25,729 articles
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Autosomal dominant childhood-onset proximal spinal muscular atrophy (SMALED, ORPHA:363447, OMIM 158600) is a rare genetic motor neuron disease with childhood-onset, proximal lower limb weakness, usually static or mildly progressive, caused mainly by DYNC1H1 or BICD2 mutations.
Autosomal dominant cutis laxa
Autosomal dominant cutis laxa (ADCL, OMIM 123700) is a rare inherited connective tissue disorder with sagging, inelastic skin, mainly caused by ELN gene variants, rarely FBLN5 or ALDH18A1, generally mild with normal life expectancy.
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant deafness-onychodystrophy syndrome (DDOD, OMIM 124480) is a rare ATP6V1B2-related disorder with congenital sensorineural deafness, onychodystrophy, and small or absent terminal phalanges, distinguished from recessive DOOR syndrome by absent intellectual disability.
Autosomal dominant dopa-responsive dystonia
Autosomal dominant dopa-responsive dystonia, also known as Segawa disease or DYT5a, is a genetic disorder causing childhood-onset dystonia that responds dramatically to low-dose levodopa and results from GCH1 gene mutations.
Autosomal dominant drusen
Autosomal dominant drusen (Doyne honeycomb retinal dystrophy, Malattia Leventinese, OMIM 126600) is a rare EFEMP1 R345W macular dystrophy with early-onset radial macular and peripapillary drusen, CNV risk, and anti-VEGF treatment.
Autosomal dominant epidermolytic ichthyosis
Autosomal dominant epidermolytic ichthyosis (EI, EHK, bullous congenital ichthyosiform erythroderma, OMIM 113800) is a rare keratinopathic ichthyosis from KRT1 or KRT10 mutations, causing neonatal blistering that becomes hyperkeratotic, with palmoplantar keratoderma linked to KRT1.
Autosomal dominant focal dystonia, DYT25 type
DYT25 (DYT-GNAL) is a rare autosomal dominant dystonia caused by heterozygous loss-of-function GNAL variants on 18p11.21, causing adult-onset isolated focal dystonia, typically cervical, with laryngeal and hand-forearm involvement, reduced penetrance, and benefit from botulinum toxin and GPi-DBS.
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Severe autosomal dominant generalized epidermolysis bullosa simplex, formerly Dowling-Meara type (EBS-DM, ORPHA:79396, OMIM 131760): herpetiform generalized blistering from birth, KRT5/KRT14 mutations, clumped tonofilaments, improves with age.
Autosomal dominant hereditary spastic paraplegia
Autosomal dominant hereditary spastic paraplegia (AD-HSP, SPG4/SPAST, SPG3A/ATL1) is a group of inherited disorders causing progressive lower-limb spasticity from corticospinal tract axonal degeneration; prevalence 1-5 per 100,000, SPAST about 40% of cases, treatment symptomatic.
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
STAT3-HIES, formerly Job or Buckley syndrome, is a rare autosomal dominant primary immunodeficiency from dominant-negative STAT3 mutations, causing high IgE, cold staphylococcal abscesses, recurrent pneumonia with pneumatoceles, Th17 deficiency, and skeletal, dental, and vascular abnormalities.
Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets (ADHR, MIM 193100), also called autosomal dominant hypophosphataemia, is a rare FGF23 mutation disorder causing renal phosphate wasting, hypophosphatemia, and rickets, triggered by iron deficiency and treatable with calcitriol, phosphate, and iron.
Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
Rahman syndrome, also called HIST1H1E or H1-4-related neurodevelopmental disorder, is an ultra-rare autosomal dominant disorder caused by de novo C-terminal frameshift variants in H1-4, causing intellectual disability, hypotonia, macrocephaly, dysmorphic facies, and skeletal, cardiac, thyroid, and ectodermal features.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
CMTDID (OMIM 607791, ORPHA:100046) is a rare autosomal dominant Charcot-Marie-Tooth neuropathy caused by MPZ mutations, with intermediate nerve conduction velocities of 25-45 m/s and mixed axonal and demyelinating features.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
CMTDIE (ORPHA:93114, OMIM 614455), also called Charcot-Marie-Tooth disease-nephropathy syndrome, is a rare autosomal dominant intermediate CMT caused by INF2 mutations on 14q32, combining typical CMT neuropathy with focal segmental glomerulosclerosis and sometimes hearing loss.
Autosomal dominant keratitis
Autosomal dominant keratitis (hereditary keratitis, OMIM 148190) is a rare PAX6-related inflammatory corneal disorder with peripheral stromal opacification, vascularization, foveal hypoplasia, and childhood onset.
Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia (ORPHA:140957) is a rare inherited thrombocytopenia with abnormally large platelets, caused by heterozygous variants in ITGB3, TUBB1, ACTN1, and GP1BB, prevalence under 1 per million.
Autosomal dominant multiple pterygium syndrome
Autosomal dominant multiple pterygium syndrome, also called distal arthrogryposis type 8 (DA8, OMIM 178110), is a rare MYH3-related disorder with pterygia, joint contractures, vertebral fusions, scoliosis, and short stature.
Autosomal dominant neovascular inflammatory vitreoretinopathy
ADNIV (CAPN5-related neovascular inflammatory vitreoretinopathy) is a rare autosomal dominant eye disease from gain-of-function CAPN5 mutations, progressing through uveitis, retinal degeneration, and neovascularization to tractional detachment and blindness.
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy and cataract (ADOAC, OPA3-related, OMIM 165300) is a rare dominant disorder with childhood bilateral optic atrophy, later cortical cataract, hearing loss, and neurological signs, caused by OPA3 mutations at 19q13.32.
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy plus syndrome (ADOA+, DOA+) is a rare OPA1-gene mitochondrial disorder combining progressive childhood optic atrophy with deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy in about 20% of ADOA cases.
Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, classic form (Kjer optic atrophy, optic atrophy type 1, OPA1): a hereditary optic neuropathy with childhood-onset bilateral visual loss, tritan color defects, and temporal disc pallor, caused mainly by OPA1 haploinsufficiency.
Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited condition in which fluid-filled cysts progressively enlarge both kidneys, causing kidney failure in about half of patients by age 60.
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (PKDTS, TSC2/PKD1 contiguous gene syndrome) is a rare chromosome 16p13.3 deletion disorder causing severe early-onset polycystic kidneys plus tuberous sclerosis features, with end-stage kidney disease typically in the second or third decade.
Autosomal dominant popliteal pterygium syndrome
Autosomal dominant popliteal pterygium syndrome (PPS, facio-genito-popliteal syndrome): rare IRF6-related cleft lip/palate disorder with popliteal knee webbing, lip pits, syndactyly, genital and nail anomalies, about 1 in 300,000.
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH, HOMG2, renal hypomagnesemia 2, OMIM 154020) is a rare FXYD2-related kidney disorder causing renal magnesium wasting with hypocalciuria, tetany, seizures, and chondrocalcinosis.
Autosomal dominant severe congenital neutropenia
Autosomal dominant severe congenital neutropenia (ORPHA:486, OMIM 202700) is a rare primary immunodeficiency with ANC below 0.5 x 10^9/L, ELANE mutations, maturation arrest, and early-onset bacterial infections, treated with G-CSF.
Autosomal dominant spastic ataxia type 1
Autosomal dominant spastic ataxia type 1 (SPAX1, OMIM 108600) is a rare hereditary spastic ataxia from VAMP1 variants on 12p13, causing lower-limb spasticity, ataxia, dysarthria, and dysphagia with onset around ages 10 to 20.
Autosomal dominant spastic paraplegia type 10
SPG10 (OMIM 604187), autosomal dominant hereditary spastic paraplegia from KIF5A variants at 12q13; pure or complicated lower limb spasticity, neuropathy, parkinsonism; prevalence under 1/1,000,000.
Autosomal dominant spastic paraplegia type 12
SPG12 (OMIM 604805), also called autosomal dominant spastic paraplegia type 12, is a rare pure hereditary spastic paraplegia caused by RTN2 variants at 19q13.32, with onset before age 20, lower limb spasticity, and haploinsufficiency as mechanism.
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 13 (SPG13, OMIM 605280) is a rare pure hereditary spastic paraplegia caused by the HSPD1 V72I (p.V98I) mutation in mitochondrial chaperonin Hsp60, first found in a French family, with adolescent-adult onset.