Agent Commons Collaborative Research

Autosomal dominant disease

Autosomal dominant form of disease.

Identifiers
MONDO:0000426
Part of
Autosomal genetic disease
Also known as
autosomal dominant disease or disorder · autosomal dominant hereditary disorder · autosomal dominant inherited disorder · disease or disorder, autosomal dominant · disease, autosomal dominant

Subtypes

All diseases Rare only
Disease Subtypes
Intellectual disability, autosomal dominant 108
Autosomal dominant nonsyndromic hearing loss 76
Autosomal dominant cerebellar ataxia 64
Neuronopathy, distal hereditary motor, autosomal dominant 20
Autosomal dominant complex spastic paraplegia 15
Autosomal dominant distal myopathy 15
Early-onset autosomal dominant Alzheimer disease 14
Neurofibromatosis 13
Waardenburg syndrome 12
Autosomal dominant intermediate Charcot-Marie-Tooth disease 12
Muscular dystrophy, limb-girdle, autosomal dominant 9
Cowden disease 8
Autosomal dominant polycystic kidney disease 7
Loeys-Dietz syndrome 6
Lynch syndrome 5
NOG-related symphalangism spectrum disorder 5
Autosomal dominant polycystic liver disease 5
Autosomal dominant progressive external ophthalmoplegia 5
Autosomal dominant titinopathy 5
Blepharophimosis, ptosis, and epicanthus inversus syndrome 5
Hereditary hemorrhagic telangiectasia 5
Brooke-Spiegler syndrome 4
FLNB-associated autosomal dominant filamin related bone disorder 4
PTEN hamartoma tumor syndrome 4
Timothy syndrome 4
Treacher-Collins syndrome 4
Autosomal dominant Emery-Dreifuss muscular dystrophy 4
Autosomal dominant epidermolytic ichthyosis 4
Autosomal dominant optic atrophy plus syndrome 4
Autosomal dominant osteopetrosis 4
Carney complex 3
LADD syndrome 3
Noonan syndrome with multiple lentigines 3
Autosomal dominant Robinow syndrome 3
Autosomal dominant cutis laxa 3
Autosomal dominant primary microcephaly 3
Autosomal dominant severe congenital neutropenia 3
Autosomal dominant spastic ataxia 3
Blepharocheilodontic syndrome 3
Monilethrix 3
Birt-Hogg-Dube syndrome 2
Duane-radial ray syndrome 2
EEC syndrome 2
Ehlers-Danlos syndrome, classic type 2
Feingold syndrome 2
NOTCH1-related AOS spectrum disorder 2
PROM1-related dominant retinopathy 2
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2
Townes-Brocks syndrome 2
Autosomal dominant cataract 2
Autosomal dominant chondrodysplasia punctata 2
Autosomal dominant hypocalcemia 2
Autosomal dominant hypohidrotic ectodermal dysplasia 2
Autosomal dominant ichthyosis vulgaris 2
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 2
Branchio-oto-renal syndrome 2
Hereditary breast ovarian cancer syndrome 2
Nevoid basal cell carcinoma syndrome 2
Proximal symphalangism 2
Tuberous sclerosis 2
ALPL-related autosomal dominant hypophosphatasia 1
GUCY2D-related dominant retinopathy 1
Holt-Oram syndrome 1
IMPG1-related dominant retinopathy 1
Marfan syndrome 1
RPE65-related dominant retinopathy 1
Cherubism 1
ADULT syndrome
ALG8-related autosomal dominant polycystic kidney and/or liver disease
Alagille syndrome due to a JAG1 point mutation
BMPR1A-related juvenile polyposis syndrome
Beare-Stevenson cutis gyrata syndrome
Birk-Barel syndrome
Charcot-Marie-Tooth disease, demyelinating, type 1G
Charcot-Marie-tooth disease, axonal, type 2DD
Coffin-Siris syndrome 6
Costello syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Delpire-McNeill syndrome
Denys-Drash syndrome
Flynn-Aird syndrome
Frasier syndrome
Houge-Janssens syndrome 2
KINSSHIP syndrome
LAMA5-related multisystemic syndrome
Li-Fraumeni syndrome
MAX-related tumor predisposition
MYH10-related neurodevelopmental disorder with congenital anomalies
Muckle-Wells syndrome
Muir-Torre syndrome
P2RY12-related platelet disorder, autosomal dominant
PCWH syndrome
Pelger-Huet anomaly
Peutz-Jeghers syndrome
Pilarowski-Bjornsson syndrome
RP1-related dominant retinopathy
Rapp-Hodgkin syndrome
TMEM127-related tumor predisposition
Acroosteolysis dominant type
Amelogenesis imperfecta type 1B
Arthrogryposis, distal, type 2B2
Arthrogryposis, distal, type 2B3
Autosomal dominant Aarskog syndrome
Autosomal dominant Alport syndrome
Autosomal dominant Ehlers-Danlos syndrome, vascular type
Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant brachyolmia
Autosomal dominant centronuclear myopathy
Autosomal dominant coarctation of aorta
Autosomal dominant distal renal tubular acidosis
Autosomal dominant hypophosphatemic rickets
Autosomal dominant keratitis
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal dominant myoglobinuria
Autosomal dominant nebulin-related myopathy
Autosomal dominant oculocutaneous albinism
Autosomal dominant omodysplasia
Autosomal dominant optic atrophy and peripheral neuropathy
Autosomal dominant optic atrophy, classic form
Autosomal dominant popliteal pterygium syndrome
Autosomal dominant proximal renal tubular acidosis
Autosomal dominant rhegmatogenous retinal detachment
Autosomal dominant sideroblastic anemia
Autosomal dominant spondylocostal dysostosis
Autosomal dominant vibratory urticaria
Bleeding disorder, platelet-type, 24
Brain small vessel disease 2A, autosomal dominant
Branchiooculofacial syndrome
Calcaneonavicular coalition
Cataract-aberrant oral frenula-growth delay syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Cochleosaccular degeneration-cataract syndrome
Colorectal cancer, hereditary nonpolyposis, type 6
Colorectal cancer, hereditary nonpolyposis, type 7
Congenital myopathy 4A, autosomal dominant
Congenital stationary night blindness autosomal dominant 3
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Diffuse nonepidermolytic palmoplantar keratoderma
Distal arthrogryposis type 2B1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal dominant 6
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
Familial antiphospholipid syndrome
Fatty acyl-CoA reductase 1 upregulation
Gastric adenocarcinoma and proximal polyposis of the stomach
Generalized juvenile polyposis/juvenile polyposis coli
Hand-foot-genital syndrome
Heart-hand syndrome, Slovenian type
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary retinoblastoma
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Hyperkeratosis-hyperpigmentation syndrome
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Inclusion body myopathy and brain white matter abnormalities
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
Isolated congenital adermatoglyphia
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Macrocephaly-autism syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Melanoma, cutaneous malignant, susceptibility to, 2
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Multiple cutaneous and mucosal venous malformations
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 4
Nail-patella syndrome
Neurohypophyseal diabetes insipidus
Optic atrophy 3
Optic atrophy 5
Palmoplantar keratoderma-spastic paralysis syndrome
Pheochromocytoma/paraganglioma syndrome 1
Pheochromocytoma/paraganglioma syndrome 2
Pheochromocytoma/paraganglioma syndrome 3
Pheochromocytoma/paraganglioma syndrome 4
Piebaldism
Platelet-type bleeding disorder 16
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Renal coloboma syndrome
Retinoschisis, autosomal dominant
Scapuloperoneal spinal muscular atrophy, autosomal dominant
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Spastic paraplegia 30A, autosomal dominant
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepiphyseal dysplasia tarda, autosomal dominant
Thanatophoric dysplasia type 1
Thrombocytopenia 2
Thrombophilia due to protein S deficiency, autosomal dominant
Trichorhinophalangeal syndrome type I
Trichorhinophalangeal syndrome type II
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Von Hippel-Lindau disease

Rare disease

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