RYR1-related myopathy

A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.


adenomyoma

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A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.


Drachtman Weinblatt Sitarz syndrome

A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.


cystitis cystica

A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.


spastic cerebral palsy

A form of cerebral palsy wherein spasticity is the exclusive impairment present.


genetic hypoparathyroidism

Genetic hypoparathyroidism.


rheumatic pulmonary valve disease

A rheumatologic disorder that involves the pulmonary valve.


immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein


autosomal recessive pure spastic paraplegia

Autosomal recessive form of pure hereditary spastic paraplegia.


hyperprolinemia type 2

Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.


cleft lip and alveolus

Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.


Plasmodium falciparum malaria

Malaria resulting from infection by Plasmodium falciparum.


neurodevelopmental disorder with cerebellar atrophy and with or without seizures


ring chromosome disorder

Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.


RDH12-related dominant retinopathy

A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.


orbit lymphoma

A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.


nosophobia

A specific phobia that involves an irrational fear of contracting a disease.


fatal infantile hypertonic myofibrillar myopathy


prolidase deficiency

An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.


ring chromosome 12

Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.


advanced sleep phase syndrome 2

Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.


intellectual disability, autosomal dominant 47


microcephaly 24, primary, autosomal recessive


foveal hypoplasia-presenile cataract syndrome


chromosome 1q41-q42 deletion syndrome

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.


mycosis fungoides and variants

Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.


serine biosynthesis pathway deficiency, infantile/juvenile form


acquired xanthinuria

Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.


distal myopathy

Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.


autosomal recessive secondary polycythemia not associated with VHL gene


epiphysiolysis of the hip

Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).


bone development disease

A disease involving the bone development.


placental insufficiency

Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.


short-rib thoracic dysplasia 21 without polydactyly


partial duplication of the long arm of chromosome 15

Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


hypogonadotropic hypogonadism 15 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.


spondyloepiphyseal dysplasia, nishimura type


syndactyly-telecanthus-anogenital and renal malformations syndrome

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.


immunodeficiency 18

Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.


RP1-related dominant retinopathy

An inherited retinopathy caused by bi-allelic variants in the RP1 gene.


autosomal recessive nonsyndromic hearing loss 12

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.


spondyloepimetaphyseal dysplasia, Krakow type


Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.


simultanagnosia

An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.


Weill-Marchesani syndrome 1

Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.


adult fibrosarcoma

A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.


splenic hodgkin lymphoma

A rare Hodgkin lymphoma that arises from the spleen.


pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


pseudodiastrophic dysplasia

Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.


progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.


flying phobia

An overwhelming, irrational, and persistent fear of traveling in an aircraft.


progressive bifocal chorioretinal atrophy

Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.


benign neoplasm of lymph node

A benign neoplasm that involves the lymph node.


familial cold autoinflammatory syndrome 4

Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.


non-24-hour sleep-wake syndrome

Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.


SchC6pf-Schulz-Passarge syndrome

A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.


hereditary photodermatosis

Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.


Wernicke encephalopathy

An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)


growth hormone insensitivity with immune dysregulation 1, autosomal recessive


deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


benign neoplasm of major salivary gland

A benign neoplasm that involves the major salivary gland.


postaxial polydactyly type B, unilateral


X-linked recessive ocular albinism

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.


acrocapitofemoral dysplasia

Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.


intellectual disability, autosomal dominant 24

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.


autosomal recessive nonsyndromic hearing loss 61

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.


adrenocortical hypofunction, chronic primary congenital


agammaglobulinemia 2, autosomal recessive

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.


cattle disease

Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.


catamenial pneumothorax

Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.


acute mast cell leukemia

A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.


aspirin-induced respiratory disease

An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.


mitochondrial complex 1 deficiency, nuclear type 18


osteomesopyknosis

Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.


chromosome 7 disorder

Chromosomal disorder in which chromosome 7 is affected.


acinar dysplasia caused by mutation in FGFR2

Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.


gonadal agenesis

A congenital disorder characterized by the complete absence of gonadal tissue.


humerus trochlea aplasia

Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.


spinal arachnoiditis

A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.


Seckel syndrome 2

Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.


retinal dystrophies primarily involving Bruch's membrane

A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.


KCNH1 associated disorder

Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.


osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

An osteogenesis imperfecta found in a single South African family.


obesity due to pro-opiomelanocortin deficiency

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.


syndromic dyslipidemia

A inherited lipid metabolism disorder that is part of a larger syndrome.


persistent hyperplastic primary vitreous, autosomal recessive

Autosomal recessive form of persistent hyperplastic primary vitreous.


bladder dome cancer

Cancer of the upper, convex surface of the bladder.


familial primary hypomagnesemia with hypocalcuria


autosomal recessive spastic paraplegia type 82


Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.


classic homocystinuria

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.


acute myeloid leukemia, WT1 gene mutation

Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)


Klippel-Feil syndrome 2, autosomal recessive

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.


fish disease

Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).


musculoskeletal system benign neoplasm

A benign neoplasm that involves the musculoskeletal system.


habitual spontaneous abortion

Three or more consecutive spontaneous abortions.


congenital anomaly of cardiovascular system

A disease that has its basis in the disruption of cardiovascular system development.


qualitative or quantitative defects of dystrophin


polyomavirus infectious disease

Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).


essential iris atrophy

Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.


congenital analbuminemia

Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).


DDOST-congenital disorder of glycosylation

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).


otopalatodigital syndrome type 2

A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.


renal tubular dysgenesis due to twin-twin transfusion

An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).


lethal congenital glycogen storage disease of heart

Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.


lumbar disc disease

A vertebral column disorder caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.


Treponema infectious disease

An disease caused by infection with Treponema.


X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.


spinocerebellar ataxia type 13

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.


malignant syringoma

A malignant form of syringoma.


adult malignant mesenchymoma

A malignant mesenchymoma occurring in adults.


monkeypox

An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.


acute myeloid leukemia, t(10;11)(p11.2;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)


hereditary spastic paraplegia 41

Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.


glycogen storage disease due to aldolase A deficiency

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.


western equine encephalitis

An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.


polymorphous low grade neuroepithelial tumour of the young

A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.


scrotum cancer

A primary or metastatic malignant neoplasm affecting the scrotum.


segmental odontomaxillary dysplasia

Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.


mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


mandibulofacial dysostosis with alopecia

A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.


hereditary motor and sensory neuropathy

A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)


acral self-healing collodion baby

Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.


congenital pulmonary airway malformation type 4


Smith-McCort dysplasia

Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.


Hailey-Hailey disease

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).


autosomal recessive nonsyndromic hearing loss 83

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.


bizarre leiomyoma

A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.


absent thumb-short stature-immunodeficiency syndrome

An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.


scapuloperoneal spinal muscular atrophy, autosomal recessive


acute myeloid leukemia, monoallelic CEBPA gene mutation

Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)


specific granule deficiency 2

Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).


spastic ataxia-corneal dystrophy syndrome

Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.


brachydactyly type A7

Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.


inborn disorder of ornithine metabolism

An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process.


postprandial hypotension

Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines.


Filippi syndrome

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.


hypothalamic disorder

Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.


X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


optic nerve neoplasm

Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.


IDH3B-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.


neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


inherited primary ovarian failure

An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.


mitochondrial complex III deficiency, nuclear type


Riley-Day syndrome

A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.


amyotrophic lateral sclerosis type 9

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene.


renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


skeletal fluorosis

A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.


spondyloepiphyseal dysplasia, Cantu type

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).


allergic respiratory disease

A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.


familial partial lipodystrophy, Kobberling type

Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.


X-linked dystonia-parkinsonism

X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.


pentosuria

Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.


rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.


BH4-deficient hyperphenylalaninemia A

An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.


ciliary dyskinesia with excessively long cilia


HTRA1-related cerebral small vessel disease


neuronal ceroid lipofuscinosis 13

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.


fungal discitis

Discitis caused by infection with fungi.


pericoronitis

Inflammation of the gingiva surrounding the crown of a tooth.


peeling skin syndrome type A

Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.


vestibular ataxia

Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.


obesity due to congenital leptin deficiency

Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.


non-distal monosomy 10q

Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.


autosomal dominant isolated diffuse palmoplantar keratoderma

Autosomal dominant form of isolated diffuse palmoplantar keratoderma.


paranoid schizophrenia

A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.


toxocara canis infection (canine roundworms)


ocular cystinosis

Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.


secondary antiphospholipid syndrome

An antiphospholipid syndrome that occurs alongside another autoimmune disorder.


IgG4-related dacryoadenitis and sialadenitis

IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.


intradermal nevus

A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.


dissociative amnesia

A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.


dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.


posterior hypospadias

Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.


recombinase activating gene 1 deficiency

A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


odonto-onycho-dermal dysplasia

A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.


benign neoplasm of prostate

A benign neoplasm that involves the prostate gland.


mast cell activation syndrome

A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).


epidermolysis bullosa simplex 5C, with pyloric atresia

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.


epidermolysis bullosa simplex 2C, localized


Quebec platelet disorder

Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.


mixed neoplasm

A neoplasm composed of at least two distinct cellular populations.


sleep disorder, initiating and maintaining sleep


FADD-related immunodeficiency

A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.


Brugada syndrome 3

Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.


trichostrongyloidiasis

Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.


neonatal-onset severe multisystemic autoinflammatory disease with increased IL18


deafness-infertility syndrome

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.


undifferentiated pleomorphic sarcoma, inflammatory variant

An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.


Revesz syndrome

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.


FNIP1-associated syndrome

Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.


hypotrichosis 7

Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.


CANOMAD syndrome

CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.


familial abdominal aortic aneurysm

An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.


chromosome 19 disorder

Chromosomal disorder in which chromosome 19 is affected.


Mills syndrome

A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.


hypomyelinating leukodystrophy 6

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.


lymphoproliferative syndrome 2

Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.


palmoplantar keratoderma, nonepidermolytic, focal 1

Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.


hereditary spastic paraplegia 15

Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.


Charcot-Marie-Tooth disease, demyelinating, type 1G

A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.


titinopathy with congenital contractures

A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.


Langerhans cell histiocytosis specific to childhood

Langerhans cell histiocytosis that occurs during childhood.


infantile-onset generalized dyskinesia with orofacial involvement


iliac vein thrombophlebitis

A thrombophlebitis that involves the iliac vein.


46,XX disorder of sex development induced by fetoplacental androgens excess


calpain-3-related limb-girdle muscular dystrophy D4


hereditary spastic paraplegia 5A

Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.


bilateral renal agenesis

Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.


genetic skin disorder

An instance of skin disease that is caused by a modification of the individual's genome.


spondyloperipheral dysplasia

A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterised by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.


vas deferens, congenital bilateral aplasia of, X-linked


non-neoplastic nevus

A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.


urinary schistosomiasis

A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.


babesiosis

Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms.


EWSR1-negative small round cell tumor

A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.


Echovirus infectious disease

Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.


atrophic muscular disease

A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.


leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


neonatal jaundice due to ABO incompatibility

Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.


neurological pain disorder

A nervous system disorder that has pain as a major feature.


relapsed/refractory diffuse large B-cell lymphoma

A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.


benign neoplasm of minor salivary gland

A benign neoplasm that involves the minor salivary gland.


pulmonary vein leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells.


dystonia 28, childhood-onset

Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.


nystagmus, congenital, autosomal recessive


chromosome 5 disorder

Chromosomal disorder in which chromosome 5 is affected.


X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.


anismus

A focal dystonia of the pelvic floor muscles during attempted defecation.


brachydactyly type A1C

Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.


intellectual disability, autosomal recessive 3

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.


retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome


furuncular myiasis due to Cordylobia rodhaini


acute myeloid leukemia with t(8;21)(q22;q22) translocation


age related macular degeneration 8

Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.


autosomal recessive nonsyndromic hearing loss 62

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.


complete septate uterus

Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.


rhabdoid tumor

An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.


suppurative uveitis

Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.


neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


SLC6A3-related dopamine transporter deficiency syndrome

A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.


hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.


acrodermatitis chronica atrophicans

An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.


X-linked reticulate pigmentary disorder

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.


acute myeloblastic leukemia without maturation

An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)


autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.


cardiac anomalies-heterotaxy syndrome

Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.


idiopathic CD4 lymphocytopenia

A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.


deficiency of coenzyme q cytochrome c reductase


thalassemia minor

The inheritance of only one mutated beta-globin allele (beta+ or beta0).


gestational diabetes insipidus

A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.


preeclampsia/eclampsia 5

Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.


hereditary sensory neuropathy-deafness-dementia syndrome

A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.


autosomal dominant hypocalcemia 2

An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


isolated anorectal malformation

Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.


generalized peeling skin syndrome

Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.


Pasteurella hemorrhagic septicemia

Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.


spondylocostal dysostosis 1, autosomal recessive


autosomal recessive nonsyndromic hearing loss 7

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome


giant axonal neuropathy

A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.


Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.


alopecia - contractures - dwarfism - intellectual disability syndrome

Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.


rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies


dysspondyloenchondromatosis

Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.


neurometabolic disorder due to serine deficiency

Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.


atypical lichen myxedematosus

Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.


brachydactyly type A1D

Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.


odontomicronychial dysplasia

Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.


X-linked intellectual disability, Cilliers type

X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).


autosomal dominant distal renal tubular acidosis

Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.


enamel caries

A dental caries that involves the enamel.


Brugada syndrome 9

Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.


chromomycosis

Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.


vulvar liposarcoma

A rare malignant adipose tissue neoplasm of the vulva.


hypertrichosis of eyelid

A hypertrichosis (disease) that involves the eyelid.


papillary urothelial hyperplasia

A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003


combined oxidative phosphorylation defect type 7

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.


glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.


neoplastic disease or syndrome

Either an isolated neoplasm or a syndrome with neoplasm as a major feature.


acute myeloid leukemia, inv(16)(p13.3;q24.3)

Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)


A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.


malignant olfactory nerve neoplasm

A primary or metastatic malignant neoplasm affecting the olfactory nerve.


acute myeloid leukemia and myelodysplastic syndromes related to radiation

Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.


qualitative or quantitative defects of selenoprotein N1


ghosal hematodiaphyseal dysplasia

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.


platelet-type bleeding disorder 18

Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.


diaph1-related sensorineural hearing loss-thrombocytopenia syndrome


intellectual developmental disorder, autosomal recessive 76


central nervous system lupus

Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.


leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.


TPM3-related myopathy

TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.


progressive nodular histiocytosis

Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.


neonatal/infantile epilepsy syndrome

An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.


uvea neoplasm

A neoplasm (disease) that involves the uvea.


hydrocephalus, nonsyndromic, autosomal recessive 2

Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.


juvenile dermatitis herpetiformis

Dermatitis herpetiformis in children


microcephaly 1, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.


childhood cerebellar neoplasm

A neoplasm that affects the cerebellum and occurs during childhood.


neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


Liddle syndrome 2

Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.


giant axonal neuropathy 1

Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy.


coxopodopatellar syndrome

Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.


muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15


Leber congenital amaurosis 2

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.


epidermodysplasia verruciformis

A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.


hereditary neutrophilia

A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.


neurodevelopmental disorder with spasticity and poor growth


branched-chain keto acid dehydrogenase kinase deficiency

A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.


bone marrow cancer

Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003


non-psychogenic polydipsia

A form of primary polydipsia not caused by underlying psychiatric symptoms.


silver-Russell syndrome due to 11p15 microduplication


croup

Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.


Frank-Ter Haar syndrome

A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.


sensory system cancer

A malignant neoplasm involving the sensory system


X-linked immunoneurologic disorder

X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.


acute sensory ataxic neuropathy

Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.


chromosome 15 disorder

Chromosomal disorder in which chromosome 15 is affected.


combined oxidative phosphorylation deficiency 41


X-linked severe syndromic thoracic aortic aneurysm and dissection


autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome


isolated microphthalmia 1

A microphthalmia that has material basis in variation in the chromosomal region 14q32.


mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition


idiopathic torsion dystonia

Torsion dystonia for which no underlying cause has been identified.


combined immunodeficiency due to MALT1 deficiency

Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.


PLIN1-related familial partial lipodystrophy


acinar dysplasia caused by mutation in FGF10

Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.


macular dystrophy with central cone involvement


congenital stationary night blindness 1F

Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.


cone-rod dystrophy 16

Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.


autosomal dominant ichthyosis vulgaris

Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.


male infertility due to acephalic spermatozoa


retinitis pigmentosa 74

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.


xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).


chromosome 1 disorder

Chromosomal disorder in which chromosome 1 is affected.


pseudohermaphroditism

A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.


symptomatic form of hemophilia B in female carriers

A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.


cataract 34 multiple types

Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.


benign neoplasm of neck

A benign neoplasm that involves the neck.


autoimmune lymphoproliferative syndrome type 4

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.


relapsing polychondritis

A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.


integumentary system disorder

A disease involving the integumental system.


moderate heart failure

Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.


hyper-IgE recurrent infection syndrome 1, autosomal dominant

A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.


male urethral cancer

A cancer involving a male urethra.


odontohypophosphatasia

Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.


acute myeloid leukemia, t(3;3)(q21.3;q26.2)

Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


partial deletion of the long arm of chromosome 6

Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


aniridia 3

Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.


RPE65-related dominant retinopathy

A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.


complex cortical dysplasia with other brain malformations 7

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.


Cowden syndrome 2

Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.


familial vesicoureteral reflux

Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.


NMNAT1-related retinopathy

A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.


mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia


intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.


camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.


lissencephaly with cerebellar hypoplasia type B

Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.


malignant Sertoli-Leydig cell tumor

A malignant form of Sertoli-leydig cell tumor.


autosomal dominant nonsyndromic hearing loss 9

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.


hyperlipoproteinemia type V

A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.


acute opioid poisoning

Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.


Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.


sphenocavernous meningioma

A meningioma that affects the sphenocavernous region.


frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.


bipolar II disorder

A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.


spermatic cord cancer

A malignant neoplasm involving the spermatic cord.


idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy


pseudohypoaldosteronism type 2C

Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.


Senior-Loken syndrome 6

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.


acute myeloid leukemia, MLL gene rearrangement

Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)


typhoidal tularemia

A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.


acquired aneurysmal subarachnoid hemorrhage

Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.


antibody mediated epilepsy

An immune epilepsy where the underlying cause is antibody mediated.


pachyonychia congenita 1

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.


atrial fibrillation, familial, 7

Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.


maternally-inherited Leigh syndrome

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.


Fontaine progeroid syndrome

A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.


Usher syndrome, type 1D/F

Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes.


micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


allescheriosis

A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.


atypical juvenile parkinsonism

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.


mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.


otodental syndrome

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.


benign paroxysmal tonic upgaze of childhood with ataxia

Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.


multifocal pattern dystrophy simulating fundus flavimaculatus

Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.


precancerous condition

A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.


syndrome with synostosis or other joint formation defect


ribose-5-P isomerase deficiency

Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.


type II complement component 8 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.


COL4A1 or COL4A2-related cerebral small vessel disease


Charcot-Marie-Tooth disease axonal type 2H

Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.


Desbuquois dysplasia 2

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.


hypomyelinating leukodystrophy 10

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.


neurodevelopmental disorder with spasticity, seizures, and brain abnormalities


stromal keratitis

Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.


ravine syndrome

Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.


combined immunodeficiency with faciooculoskeletal anomalies

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).


blood platelet disease

Disorders caused by abnormalities in platelet count or function.


aleutian mink disease

A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.


late-onset familial hypoaldosteronism

A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.


paraurethral gland cancer

A malignant neoplasm involving the paraurethral gland.


chondrodysplasia Blomstrand type

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.


diffuse lipomatosis

A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.


ventricular fibrillation, paroxysmal familial, type 1


spondylocostal dysostosis 3, autosomal recessive

Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.


West Nile fever

A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)


hyper-IgE recurrent infection syndrome 4, autosomal recessive


mitochondrial complex 1 deficiency, nuclear type 12


age related macular degeneration 2

An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.


iminoglycinuria

A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.


bronchial endocrine tumor

A neuroendocrine neoplasm that involves the bronchus.


tetrasomy

A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.


autosomal recessive lymphoproliferative disease

A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.


acral dystrophic epidermolysis bullosa

Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.


exostoses, multiple, type 2

This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.


intracranial meningioma

A meningioma that arises within the cranial cavity.


intellectual disability, autosomal recessive 61

An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.


partial trisomy/tetrasomy of chromosome 9


achromatopsia 3

Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.


severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


familial partial lipodystrophy

Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.


pili gemini

Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.


hemangioendothelioma

A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.


geleophysic dysplasia

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').