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Up to: Autosomal genetic disease

Autosomal dominant disease

Autosomal dominant form of disease.

0 trials tagged with this condition →

Neurofibromatosis 19 trials · 94 incl. sub-types Sub-types →
Lynch syndrome 81 trials · 83 incl. sub-types Sub-types →
Autosomal dominant polycystic kidney disease 59 trials Sub-types →
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 53 trials
Tuberous sclerosis 41 trials · 44 incl. sub-types Sub-types →
Hereditary breast ovarian cancer syndrome 35 trials · 38 incl. sub-types Sub-types →
Early-onset autosomal dominant Alzheimer disease 31 trials · 37 incl. sub-types Sub-types →
Hereditary hemorrhagic telangiectasia 34 trials Sub-types →
Multiple endocrine neoplasia type 1 34 trials
Autosomal dominant cerebellar ataxia 11 trials · 33 incl. sub-types Sub-types →
Von Hippel-Lindau disease 27 trials
Intellectual disability, autosomal dominant 0 trials · 23 incl. sub-types Sub-types →
Marfan syndrome 21 trials Sub-types →
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 19 trials
Li-Fraumeni syndrome 16 trials
NOTCH1-related AOS spectrum disorder 0 trials · 16 incl. sub-types Sub-types →
Cowden disease 11 trials Sub-types →
Autosomal dominant hypocalcemia 9 trials · 10 incl. sub-types Sub-types →
Peutz-Jeghers syndrome 9 trials
Neurohypophyseal diabetes insipidus 9 trials
PTEN hamartoma tumor syndrome 6 trials · 8 incl. sub-types Sub-types →
Costello syndrome 7 trials
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 7 trials Sub-types →
Loeys-Dietz syndrome 6 trials Sub-types →
Autosomal dominant optic atrophy 6 trials Sub-types →
Melanoma, cutaneous malignant, susceptibility to, 2 6 trials
Nevoid basal cell carcinoma syndrome 5 trials Sub-types →
Carney complex 4 trials Sub-types →
Crouzon syndrome-acanthosis nigricans syndrome 4 trials
Multiple endocrine neoplasia type 2A 4 trials
Piebaldism 4 trials
Muscular dystrophy, limb-girdle, autosomal dominant 0 trials · 4 incl. sub-types Sub-types →
Muckle-Wells syndrome 3 trials
Noonan syndrome with multiple lentigines 3 trials Sub-types →
Autosomal dominant polycystic liver disease 3 trials Sub-types →
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 3 trials
Autosomal dominant Emery-Dreifuss muscular dystrophy 0 trials · 3 incl. sub-types Sub-types →
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 trials · 3 incl. sub-types Sub-types →
Birt-Hogg-Dube syndrome 2 trials Sub-types →
Muir-Torre syndrome 2 trials
Autosomal dominant vibratory urticaria 2 trials
Hereditary retinoblastoma 2 trials
Multiple endocrine neoplasia type 2B 2 trials
Nail-patella syndrome 2 trials
Autosomal dominant nonsyndromic hearing loss 1 trial · 2 incl. sub-types Sub-types →
Autosomal dominant progressive external ophthalmoplegia 1 trial · 2 incl. sub-types Sub-types →
Brooke-Spiegler syndrome 0 trials · 2 incl. sub-types Sub-types →
Denys-Drash syndrome 1 trial
Duane-radial ray syndrome 1 trial Sub-types →
EEC syndrome 1 trial Sub-types →
Timothy syndrome 1 trial Sub-types →
Waardenburg syndrome 1 trial Sub-types →
Brain small vessel disease 2A, autosomal dominant 1 trial
Cherubism 1 trial Sub-types →
Colorectal cancer, hereditary nonpolyposis, type 6 1 trial
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 trial
Gastric adenocarcinoma and proximal polyposis of the stomach 1 trial
Macrocephaly-autism syndrome 1 trial
Microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 trial
Multiple cutaneous and mucosal venous malformations 1 trial
Proximal symphalangism 1 trial Sub-types →
Trichorhinophalangeal syndrome type II 1 trial
ADULT syndrome 0 trials
ALG8-related autosomal dominant polycystic kidney and/or liver disease 0 trials
ALPL-related autosomal dominant hypophosphatasia 0 trials Sub-types →
Alagille syndrome due to a JAG1 point mutation 0 trials
BMPR1A-related juvenile polyposis syndrome 0 trials
Beare-Stevenson cutis gyrata syndrome 0 trials
Birk-Barel syndrome 0 trials
Charcot-Marie-Tooth disease, demyelinating, type 1G 0 trials
Charcot-Marie-tooth disease, axonal, type 2DD 0 trials
Coffin-Siris syndrome 1 0 trials
Delpire-McNeill syndrome 0 trials
Ehlers-Danlos syndrome, classic type 0 trials Sub-types →
FLNB-associated autosomal dominant filamin related bone disorder 0 trials Sub-types →
Feingold syndrome 0 trials Sub-types →
Flynn-Aird syndrome 0 trials
Frasier syndrome 0 trials
GUCY2D-related dominant retinopathy 0 trials Sub-types →
Holt-Oram syndrome 0 trials Sub-types →
Houge-Janssens syndrome 2 0 trials
IMPG1-related dominant retinopathy 0 trials Sub-types →
KINSSHIP syndrome 0 trials
LADD syndrome 0 trials Sub-types →
LAMA5-related multisystemic syndrome 0 trials
MAX-related tumor predisposition 0 trials
MYH10-related neurodevelopmental disorder with congenital anomalies 0 trials
NOG-related symphalangism spectrum disorder 0 trials Sub-types →
PCWH syndrome 0 trials
PROM1-related dominant retinopathy 0 trials Sub-types →
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 trials Sub-types →
Pelger-Huet anomaly 0 trials
Pilarowski-Bjornsson syndrome 0 trials
RP1-related dominant retinopathy 0 trials
RPE65-related dominant retinopathy 0 trials Sub-types →
Rapp-Hodgkin syndrome 0 trials
TMEM127-related tumor predisposition 0 trials
Townes-Brocks syndrome 0 trials Sub-types →
Treacher-Collins syndrome 0 trials Sub-types →
Acroosteolysis dominant type 0 trials
Amelogenesis imperfecta type 1B 0 trials
Arthrogryposis, distal, type 2B2 0 trials
Arthrogryposis, distal, type 2B3 0 trials
Autosomal dominant Aarskog syndrome 0 trials
Autosomal dominant Alport syndrome 0 trials
Autosomal dominant Ehlers-Danlos syndrome, vascular type 0 trials
Autosomal dominant Kenny-Caffey syndrome 0 trials
Autosomal dominant Robinow syndrome 0 trials Sub-types →
Autosomal dominant brachyolmia 0 trials
Autosomal dominant cataract 0 trials Sub-types →
Autosomal dominant centronuclear myopathy 0 trials
Autosomal dominant chondrodysplasia punctata 0 trials Sub-types →
Autosomal dominant coarctation of aorta 0 trials
Autosomal dominant complex spastic paraplegia 0 trials Sub-types →
Autosomal dominant cutis laxa 0 trials Sub-types →
Autosomal dominant distal myopathy 0 trials Sub-types →
Autosomal dominant distal renal tubular acidosis 0 trials
Autosomal dominant epidermolytic ichthyosis 0 trials Sub-types →
Autosomal dominant hypohidrotic ectodermal dysplasia 0 trials Sub-types →
Autosomal dominant hypophosphatemic rickets 0 trials
Autosomal dominant ichthyosis vulgaris 0 trials Sub-types →
Autosomal dominant keratitis 0 trials
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 0 trials
Autosomal dominant myoglobinuria 0 trials
Autosomal dominant nebulin-related myopathy 0 trials
Autosomal dominant oculocutaneous albinism 0 trials
Autosomal dominant omodysplasia 0 trials
Autosomal dominant osteopetrosis 0 trials Sub-types →
Autosomal dominant popliteal pterygium syndrome 0 trials
Autosomal dominant primary microcephaly 0 trials Sub-types →
Autosomal dominant proximal renal tubular acidosis 0 trials
Autosomal dominant rhegmatogenous retinal detachment 0 trials
Autosomal dominant severe congenital neutropenia 0 trials Sub-types →
Autosomal dominant sideroblastic anemia 0 trials
Autosomal dominant spastic ataxia 0 trials Sub-types →
Autosomal dominant spondylocostal dysostosis 0 trials
Autosomal dominant titinopathy 0 trials Sub-types →
Blepharocheilodontic syndrome 0 trials Sub-types →
Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 trials Sub-types →
Branchio-oto-renal syndrome 0 trials Sub-types →
Branchiooculofacial syndrome 0 trials
Calcaneonavicular coalition 0 trials
Cataract-aberrant oral frenula-growth delay syndrome 0 trials
Cochleosaccular degeneration-cataract syndrome 0 trials
Colorectal cancer, hereditary nonpolyposis, type 7 0 trials
Congenital stationary night blindness autosomal dominant 3 0 trials
Diffuse nonepidermolytic palmoplantar keratoderma 0 trials
Distal arthrogryposis type 2B1 0 trials
Dyskeratosis congenita, autosomal dominant 2 0 trials
Dyskeratosis congenita, autosomal dominant 3 0 trials
Dyskeratosis congenita, autosomal dominant 6 0 trials
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 0 trials
Familial antiphospholipid syndrome 0 trials
Fatty acyl-CoA reductase 1 upregulation 0 trials
Generalized juvenile polyposis/juvenile polyposis coli 0 trials
Hand-foot-genital syndrome 0 trials
Heart-hand syndrome, Slovenian type 0 trials
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 0 trials
Hyperkeratosis-hyperpigmentation syndrome 0 trials
Hypopigmentation-punctate palmoplantar keratoderma syndrome 0 trials
Inclusion body myopathy and brain white matter abnormalities 0 trials
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 trials
Intellectual disability, autosomal dominant 14 0 trials
Intellectual disability, autosomal dominant 15 0 trials
Intellectual disability, autosomal dominant 16 0 trials
Intellectual disability, autosomal dominant 29 0 trials
Intellectual disability, autosomal dominant 30 0 trials
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 trials
Isolated congenital adermatoglyphia 0 trials
Juvenile cataract-microcornea-renal glucosuria syndrome 0 trials
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 trials
Mandibulofacial dysostosis-microcephaly syndrome 0 trials
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
Monilethrix 0 trials Sub-types →
Multiple endocrine neoplasia type 4 0 trials
Neuronopathy, distal hereditary motor, autosomal dominant 0 trials Sub-types →
Palmoplantar keratoderma-spastic paralysis syndrome 0 trials
Pheochromocytoma/paraganglioma syndrome 1 0 trials
Pheochromocytoma/paraganglioma syndrome 2 0 trials
Pheochromocytoma/paraganglioma syndrome 3 0 trials
Pheochromocytoma/paraganglioma syndrome 4 0 trials
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
Renal coloboma syndrome 0 trials
Retinoschisis, autosomal dominant 0 trials
Scapuloperoneal spinal muscular atrophy, autosomal dominant 0 trials
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0 trials
Spastic paraplegia 30A, autosomal dominant 0 trials
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 trials
Spondyloepiphyseal dysplasia tarda, autosomal dominant 0 trials
Thanatophoric dysplasia type 1 0 trials
Thrombophilia due to protein S deficiency, autosomal dominant 0 trials
Trichorhinophalangeal syndrome type I 0 trials