Autosomal dominant disease

MONDO:0000426

Autosomal dominant form of 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

699 clinical trials for this condition and its sub-types, 0 tagged with Autosomal dominant disease itself.

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Part of

↑ Autosomal genetic disease (1670)

Sub-types of Autosomal dominant disease

Neurofibromatosis 19 trials · 94 incl. sub-types
5 sub-types
- Neurofibromatosis type 1 73 trials Sub-types →
- NF2-related schwannomatosis 21 trials
- Schwannomatosis 3 trials Sub-types →
- Neurofibromatosis-Noonan syndrome 2 trials Sub-types →
- Neurofibromatosis, type IV, of Riccardi 0 trials
Lynch syndrome 81 trials · 83 incl. sub-types
5 sub-types
- Lynch syndrome 1 5 trials
- Lynch syndrome 2 3 trials
- Lynch syndrome 4 0 trials
- Lynch syndrome 5 0 trials
- Lynch syndrome 8 0 trials
Autosomal dominant polycystic kidney disease 59 trials
7 sub-types
- Polycystic kidney disease 1 1 trial
- ALG9-associated autosomal dominant polycystic kidney disease 0 trials
- Polycystic kidney disease 2 0 trials
- Polycystic kidney disease 3 with or without polycystic liver disease 0 trials
- Polycystic kidney disease 6 with or without polycystic liver disease 0 trials
- Polycystic kidney disease 7 0 trials
- Polycystic kidney disease 8 0 trials
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 53 trials
Tuberous sclerosis 41 trials · 44 incl. sub-types
2 sub-types
- Tuberous sclerosis 1 33 trials
- Tuberous sclerosis 2 2 trials
Hereditary breast ovarian cancer syndrome 35 trials · 38 incl. sub-types
2 sub-types
- Breast-ovarian cancer, familial, susceptibility to, 1 3 trials
- Breast-ovarian cancer, familial, susceptibility to, 2 2 trials
Early-onset autosomal dominant Alzheimer disease 31 trials · 37 incl. sub-types
14 sub-types
- Alzheimer disease 3 5 trials
- Alzheimer disease type 1 4 trials
- Alzheimer disease 4 3 trials
- Alzheimer disease 10 1 trial
- Alzheimer disease 11 1 trial
- Alzheimer disease 12 1 trial
- Alzheimer disease 13 1 trial
- Alzheimer disease 14 1 trial
- Alzheimer disease 5 1 trial
- Alzheimer disease 6 1 trial
- Alzheimer disease 7 1 trial
- Alzheimer disease 8 1 trial
- Alzheimer disease without neurofibrillary tangles 1 trial
- Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 0 trials
Hereditary hemorrhagic telangiectasia 34 trials
5 sub-types
- Telangiectasia, hereditary hemorrhagic, type 1 4 trials
- Hereditary hemorrhagic telangiectasia type 3 0 trials
- Hereditary hemorrhagic telangiectasia type 4 0 trials
- Telangiectasia, hereditary hemorrhagic, type 2 0 trials
- Telangiectasia, hereditary hemorrhagic, type 5 0 trials
Multiple endocrine neoplasia type 1 34 trials
Autosomal dominant cerebellar ataxia 11 trials · 33 incl. sub-types
15 sub-types
- Autosomal dominant cerebellar ataxia type I 0 trials · 16 incl. sub-types Sub-types →
- Autosomal dominant cerebellar ataxia type III 0 trials · 9 incl. sub-types Sub-types →
- Autosomal dominant cerebellar ataxia type IV 0 trials · 8 incl. sub-types Sub-types →
- Spinocerebellar ataxia 7 7 trials
- Spinocerebellar ataxia 27B, late-onset 4 trials
- Spinocerebellar ataxia 9 2 trials
- Spinocerebellar ataxia 27A 1 trial
- GRID2-related autosomal dominant spinocerebellar ataxia 0 trials
- Spinocerebellar ataxia 43 0 trials
- Spinocerebellar ataxia 44 0 trials
- Spinocerebellar ataxia 47 0 trials
- Spinocerebellar ataxia 48 0 trials
- Spinocerebellar ataxia 49 0 trials
- Spinocerebellar ataxia 50 0 trials
- Spinocerebellar ataxia 51 0 trials
Von Hippel-Lindau disease 27 trials
Intellectual disability, autosomal dominant 0 trials · 23 incl. sub-types
29 sub-types
- Autosomal dominant syndromic intellectual disability 0 trials · 15 incl. sub-types Sub-types →
- Autosomal dominant non-syndromic intellectual disability 0 trials · 8 incl. sub-types Sub-types →
- Intellectual disability, autosomal dominant 5 2 trials
- Intellectual developmental disorder, autosomal dominant 64 0 trials
- Intellectual developmental disorder, autosomal dominant 65 0 trials
- Intellectual developmental disorder, autosomal dominant 66 0 trials
- Intellectual developmental disorder, autosomal dominant 67 0 trials
- Intellectual developmental disorder, autosomal dominant 68 0 trials
- Intellectual developmental disorder, autosomal dominant 69 0 trials
- Intellectual developmental disorder, autosomal dominant 70 0 trials
- Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 trials
- Intellectual developmental disorder, autosomal dominant 72 0 trials
- Intellectual developmental disorder, autosomal dominant 74 0 trials
- Intellectual developmental disorder, autosomal dominant 75 0 trials
- Intellectual developmental disorder, autosomal dominant 76 0 trials
- Intellectual disability, autosomal dominant 1 0 trials
- Intellectual disability, autosomal dominant 10 0 trials
- Intellectual disability, autosomal dominant 11 0 trials
- Intellectual disability, autosomal dominant 2 0 trials
- Intellectual disability, autosomal dominant 24 0 trials
- Intellectual disability, autosomal dominant 3 0 trials
- Intellectual disability, autosomal dominant 38 0 trials
- Intellectual disability, autosomal dominant 39 0 trials
- Intellectual disability, autosomal dominant 4 0 trials
- Intellectual disability, autosomal dominant 40 0 trials
- Intellectual disability, autosomal dominant 42 0 trials
- Intellectual disability, autosomal dominant 6 0 trials
- Intellectual disability, autosomal dominant 9 0 trials
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 trials
Marfan syndrome 21 trials
1 sub-type
- Neonatal Marfan syndrome 0 trials
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
2 sub-types
- Aortic valve disease 1 16 trials
- Adams-Oliver syndrome 5 0 trials
Cowden disease 11 trials
8 sub-types
- Cowden syndrome 1 1 trial
- Cowden syndrome 2 0 trials
- Cowden syndrome 3 0 trials
- Cowden syndrome 4 0 trials
- Cowden syndrome 5 0 trials
- Cowden syndrome 6 0 trials
- Cowden syndrome 7 0 trials
- Sacral hemangiomas multiple congenital abnormalities 0 trials
Autosomal dominant hypocalcemia 9 trials · 10 incl. sub-types
2 sub-types
- Autosomal dominant hypocalcemia 1 4 trials
- Autosomal dominant hypocalcemia 2 1 trial
Peutz-Jeghers syndrome 9 trials
Neurohypophyseal diabetes insipidus 9 trials
PTEN hamartoma tumor syndrome 6 trials · 8 incl. sub-types
4 sub-types
- Proteus syndrome 2 trials
- Bannayan-Riley-Ruvalcaba syndrome 1 trial
- Proteus-like syndrome 0 trials
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 0 trials
Costello syndrome 7 trials
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 7 trials
2 sub-types
- Familial juvenile hyperuricemic nephropathy type 1 0 trials
- Tubulointerstitial kidney disease, autosomal dominant, 2 0 trials
Loeys-Dietz syndrome 6 trials
6 sub-types
- Loeys-Dietz syndrome 1 0 trials
- Loeys-Dietz syndrome 2 0 trials
- Loeys-Dietz syndrome 4 0 trials
- Loeys-Dietz syndrome 6 0 trials
- Rienhoff syndrome 0 trials
- Aneurysm-osteoarthritis syndrome 0 trials
Autosomal dominant optic atrophy 6 trials
6 sub-types
- Autosomal dominant optic atrophy, classic form 3 trials
- Al Gazali Khidr Prem Chandran syndrome 0 trials
- Autosomal dominant optic atrophy and peripheral neuropathy 0 trials
- Autosomal dominant optic atrophy plus syndrome 0 trials Sub-types →
- Optic atrophy 3 0 trials
- Optic atrophy 5 0 trials
Melanoma, cutaneous malignant, susceptibility to, 2 6 trials
Nevoid basal cell carcinoma syndrome 5 trials
2 sub-types
- Basal cell nevus syndrome 1 0 trials
- Basal cell nevus syndrome 2 0 trials
Carney complex 4 trials
3 sub-types
- Carney complex - trismus - pseudocamptodactyly syndrome 0 trials
- Carney complex type 2 0 trials
- Carney complex, type 1 0 trials
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
8 sub-types
Muckle-Wells syndrome 3 trials
Noonan syndrome with multiple lentigines 3 trials
3 sub-types
- LEOPARD syndrome 1 0 trials
- LEOPARD syndrome 2 0 trials
- LEOPARD syndrome 3 0 trials
Autosomal dominant polycystic liver disease 3 trials
5 sub-types
- SEC61B-related polycystic liver disease 0 trials
- Polycystic liver disease 1 0 trials
- Polycystic liver disease 2 0 trials
- Polycystic liver disease 3 with or without kidney cysts 0 trials
- Polycystic liver disease 4 with or without kidney cysts 0 trials
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 3 trials
Autosomal dominant Emery-Dreifuss muscular dystrophy 0 trials · 3 incl. sub-types
4 sub-types
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant 3 trials
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 trials
- Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 trials
- Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 trials
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 trials · 3 incl. sub-types
8 sub-types
- Charcot-Marie-Tooth disease dominant intermediate D 0 trials · 3 incl. sub-types Sub-types →
- Charcot-Marie-Tooth disease dominant intermediate B 0 trials · 1 incl. sub-types Sub-types →
- Charcot-Marie-Tooth Disease, axonal, type 2GG 0 trials
- Charcot-Marie-Tooth disease dominant intermediate C 0 trials
- Charcot-Marie-Tooth disease dominant intermediate E 0 trials
- Charcot-Marie-Tooth disease dominant intermediate F 0 trials
- Charcot-Marie-Tooth disease, dominant intermediate A 0 trials
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 0 trials
Birt-Hogg-Dube syndrome 2 trials
2 sub-types
- Birt-Hogg-Dube syndrome 1 0 trials
- Birt-Hogg-Dube syndrome 2 0 trials
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
75 sub-types
- Autosomal dominant nonsyndromic hearing loss 9 1 trial
- Autosomal dominant auditory neuropathy 1 0 trials
- Autosomal dominant nonsyndromic hearing loss 1 0 trials
- Autosomal dominant nonsyndromic hearing loss 10 0 trials
- Autosomal dominant nonsyndromic hearing loss 11 0 trials
- Autosomal dominant nonsyndromic hearing loss 12 0 trials
- Autosomal dominant nonsyndromic hearing loss 13 0 trials
- Autosomal dominant nonsyndromic hearing loss 15 0 trials
- Autosomal dominant nonsyndromic hearing loss 16 0 trials
- Autosomal dominant nonsyndromic hearing loss 17 0 trials
- Autosomal dominant nonsyndromic hearing loss 18 0 trials
- Autosomal dominant nonsyndromic hearing loss 20 0 trials
- Autosomal dominant nonsyndromic hearing loss 21 0 trials
- Autosomal dominant nonsyndromic hearing loss 22 0 trials
- Autosomal dominant nonsyndromic hearing loss 23 0 trials
- Autosomal dominant nonsyndromic hearing loss 24 0 trials
- Autosomal dominant nonsyndromic hearing loss 25 0 trials
- Autosomal dominant nonsyndromic hearing loss 27 0 trials
- Autosomal dominant nonsyndromic hearing loss 28 0 trials
- Autosomal dominant nonsyndromic hearing loss 2A 0 trials
- Autosomal dominant nonsyndromic hearing loss 2B 0 trials
- Autosomal dominant nonsyndromic hearing loss 30 0 trials
- Autosomal dominant nonsyndromic hearing loss 31 0 trials
- Autosomal dominant nonsyndromic hearing loss 33 0 trials
- Autosomal dominant nonsyndromic hearing loss 36 0 trials
- Autosomal dominant nonsyndromic hearing loss 3A 0 trials
- Autosomal dominant nonsyndromic hearing loss 3B 0 trials
- Autosomal dominant nonsyndromic hearing loss 40 0 trials
- Autosomal dominant nonsyndromic hearing loss 41 0 trials
- Autosomal dominant nonsyndromic hearing loss 43 0 trials
- Autosomal dominant nonsyndromic hearing loss 44 0 trials
- Autosomal dominant nonsyndromic hearing loss 47 0 trials
- Autosomal dominant nonsyndromic hearing loss 48 0 trials
- Autosomal dominant nonsyndromic hearing loss 49 0 trials
- Autosomal dominant nonsyndromic hearing loss 4A 0 trials
- Autosomal dominant nonsyndromic hearing loss 4B 0 trials
- Autosomal dominant nonsyndromic hearing loss 5 0 trials
- Autosomal dominant nonsyndromic hearing loss 50 0 trials
- Autosomal dominant nonsyndromic hearing loss 51 0 trials
- Autosomal dominant nonsyndromic hearing loss 53 0 trials
- Autosomal dominant nonsyndromic hearing loss 54 0 trials
- Autosomal dominant nonsyndromic hearing loss 56 0 trials
- Autosomal dominant nonsyndromic hearing loss 58 0 trials
- Autosomal dominant nonsyndromic hearing loss 59 0 trials
- Autosomal dominant nonsyndromic hearing loss 6 0 trials
- Autosomal dominant nonsyndromic hearing loss 64 0 trials
- Autosomal dominant nonsyndromic hearing loss 65 0 trials
- Autosomal dominant nonsyndromic hearing loss 66 0 trials
- Autosomal dominant nonsyndromic hearing loss 67 0 trials
- Autosomal dominant nonsyndromic hearing loss 68 0 trials
- Autosomal dominant nonsyndromic hearing loss 69 0 trials
- Autosomal dominant nonsyndromic hearing loss 7 0 trials
- Autosomal dominant nonsyndromic hearing loss 70 0 trials
- Hearing loss, autosomal dominant 34, with or without inflammation 0 trials
- Hearing loss, autosomal dominant 37 0 trials
- Hearing loss, autosomal dominant 71 0 trials
- Hearing loss, autosomal dominant 72 0 trials
- Hearing loss, autosomal dominant 73 0 trials
- Hearing loss, autosomal dominant 74 0 trials
- Hearing loss, autosomal dominant 75 0 trials
- Hearing loss, autosomal dominant 76 0 trials
- Hearing loss, autosomal dominant 77 0 trials
- Hearing loss, autosomal dominant 78 0 trials
- Hearing loss, autosomal dominant 79 0 trials
- Hearing loss, autosomal dominant 80 0 trials
- Hearing loss, autosomal dominant 81 0 trials
- Hearing loss, autosomal dominant 82 0 trials
- Hearing loss, autosomal dominant 83 0 trials
- Hearing loss, autosomal dominant 84 0 trials
- Hearing loss, autosomal dominant 85 0 trials
- Hearing loss, autosomal dominant 86 0 trials
- Hearing loss, autosomal dominant 87 0 trials
- Hearing loss, autosomal dominant 88 0 trials
- Hearing loss, autosomal dominant 89 0 trials
- Hearing loss, autosomal dominant 90 0 trials
Autosomal dominant progressive external ophthalmoplegia 1 trial · 2 incl. sub-types
5 sub-types
Brooke-Spiegler syndrome 0 trials · 2 incl. sub-types
2 sub-types
- Familial cylindromatosis 2 trials
- Familial multiple trichoepithelioma 0 trials Sub-types →
Denys-Drash syndrome 1 trial
Duane-radial ray syndrome 1 trial
2 sub-types
- Okihiro syndrome due to 20q13 microdeletion 0 trials
- Okihiro syndrome due to a point mutation 0 trials
EEC syndrome 1 trial
2 sub-types
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0 trials
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 trials
Timothy syndrome 1 trial
2 sub-types
- Timothy syndrome, classic type 0 trials · 1 incl. sub-types Sub-types →
- Timothy syndrome, atypical type 0 trials
Waardenburg syndrome 1 trial
5 sub-types
- Waardenburg syndrome type 1 1 trial
- Waardenburg syndrome type 2 1 trial Sub-types →
- Waardenburg syndrome type 3 0 trials
- Waardenburg syndrome, IIa 2F 0 trials
- Waardenburg-Shah syndrome 0 trials Sub-types →
Brain small vessel disease 2A, autosomal dominant 1 trial
Cherubism 1 trial
1 sub-type
- Al Gazali Khidr Prem Chandran syndrome 0 trials
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
2 sub-types
- Proximal symphalangism 1A 0 trials
- Symphalangism, proximal, 1B 0 trials
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
1 sub-type
- Mild hypophosphatasia 0 trials
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
2 sub-types
- Ehlers-Danlos syndrome, classic type, 1 0 trials
- Ehlers-Danlos syndrome, classic type, 2 0 trials
FLNB-associated autosomal dominant filamin related bone disorder 0 trials
4 sub-types
- Boomerang dysplasia 0 trials
- Larsen syndrome 0 trials
- Atelosteogenesis type I 0 trials
- Atelosteogenesis type III 0 trials
Feingold syndrome 0 trials
2 sub-types
- Feingold syndrome type 1 0 trials
- Feingold syndrome type 2 0 trials
Flynn-Aird syndrome 0 trials
Frasier syndrome 0 trials
GUCY2D-related dominant retinopathy 0 trials
1 sub-type
- Choroidal dystrophy, central areolar, 1 0 trials
Holt-Oram syndrome 0 trials
1 sub-type
- Heart-hand syndrome type 3 0 trials
Houge-Janssens syndrome 2 0 trials
IMPG1-related dominant retinopathy 0 trials
1 sub-type
- Benign concentric annular macular dystrophy 0 trials
KINSSHIP syndrome 0 trials
LADD syndrome 0 trials
3 sub-types
- LADD syndrome 1 0 trials
- Lacrimoauriculodentodigital syndrome 2 0 trials
- Lacrimoauriculodentodigital syndrome 3 0 trials
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
5 sub-types
- Brachydactyly type B2 0 trials
- Multiple synostoses syndrome 1 0 trials
- Proximal symphalangism 1A 0 trials
- Stapes ankylosis with broad thumbs and toes 0 trials
- Tarsal-carpal coalition syndrome 0 trials
PCWH syndrome 0 trials
PROM1-related dominant retinopathy 0 trials
2 sub-types
- Stargardt disease 4 0 trials
- Retinal macular dystrophy type 2 0 trials
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 trials
2 sub-types
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 0 trials
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 0 trials
Pelger-Huet anomaly 0 trials
Pilarowski-Bjornsson syndrome 0 trials
RP1-related dominant retinopathy 0 trials
RPE65-related dominant retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 87 with choroidal involvement 0 trials
Rapp-Hodgkin syndrome 0 trials
TMEM127-related tumor predisposition 0 trials
Townes-Brocks syndrome 0 trials
2 sub-types
- Townes-Brocks syndrome 1 0 trials
- Townes-Brocks syndrome 2 0 trials
Treacher-Collins syndrome 0 trials
4 sub-types
- Treacher Collins syndrome 1 0 trials
- Treacher Collins syndrome 2 0 trials
- Treacher Collins syndrome 3 0 trials
- Treacher Collins syndrome 4 0 trials
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
3 sub-types
- Autosomal dominant Robinow syndrome 1 0 trials
- Autosomal dominant Robinow syndrome 2 0 trials
- Autosomal dominant Robinow syndrome 3 0 trials
Autosomal dominant brachyolmia 0 trials
Autosomal dominant cataract 0 trials
1 sub-type
- Autosomal dominant non-nuclear cataract 0 trials
Autosomal dominant centronuclear myopathy 0 trials
Autosomal dominant chondrodysplasia punctata 0 trials
2 sub-types
- Chondrodysplasia punctata, brachytelephalangic, autosomal 0 trials
- Chondrodysplasia punctata, tibial-metacarpal type 0 trials
Autosomal dominant coarctation of aorta 0 trials
Autosomal dominant complex spastic paraplegia 0 trials
13 sub-types
- Autosomal dominant spastic paraplegia type 9 0 trials Sub-types →
- Hereditary spastic paraplegia 17 0 trials
- Hereditary spastic paraplegia 29 0 trials
- Hereditary spastic paraplegia 36 0 trials
- Hereditary spastic paraplegia 38 0 trials
- Spastic paraplegia 18a, autosomal dominant 0 trials
- Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 trials
- Spastic paraplegia-Paget disease of bone syndrome 0 trials
- Spastic paraplegia-epilepsy-intellectual disability syndrome 0 trials
- Spastic paraplegia-facial-cutaneous lesions syndrome 0 trials
- Spastic paraplegia-nephritis-deafness syndrome 0 trials
- Spastic paraplegia-neuropathy-poikiloderma syndrome 0 trials
- Spastic paraplegia-precocious puberty syndrome 0 trials
Autosomal dominant cutis laxa 0 trials
3 sub-types
- Cutis laxa, autosomal dominant 1 0 trials
- Cutis laxa, autosomal dominant 2 0 trials
- Cutis laxa, autosomal dominant 3 0 trials
Autosomal dominant distal myopathy 0 trials
15 sub-types
- Finnish upper limb-onset distal myopathy 0 trials
- KLHL9-related early-onset distal myopathy 0 trials
- TARDBP-related predominantly upper-limb distal myopathy 0 trials
- Adult-onset distal myopathy due to VCP mutation 0 trials
- Asymetric thumb-handgrip weakness-distal myopathy 0 trials
- Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy 0 trials
- Distal myopathy with posterior leg and anterior hand involvement 0 trials
- Distal myopathy with vocal cord weakness 0 trials
- Distal myopathy, Tateyama type 0 trials
- Distal myopathy, Welander type 0 trials
- Myofibrillar myopathy 2 0 trials
- Myofibrillar myopathy 3 0 trials
- Myofibrillar myopathy 4 0 trials
- Myopathy, myofibrillar, 9, with early respiratory failure 0 trials
- Tibial muscular dystrophy 0 trials
Autosomal dominant distal renal tubular acidosis 0 trials
Autosomal dominant epidermolytic ichthyosis 0 trials
2 sub-types
- Annular epidermolytic ichthyosis 0 trials Sub-types →
- Epidermolytic hyperkeratosis 2A, autosomal dominant 0 trials
Autosomal dominant hypohidrotic ectodermal dysplasia 0 trials
2 sub-types
- Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 trials
- Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant 0 trials
Autosomal dominant hypophosphatemic rickets 0 trials
Autosomal dominant ichthyosis vulgaris 0 trials
2 sub-types
- Mild ichthyosis vulgaris 0 trials
- Severe ichthyosis vulgaris 0 trials
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
4 sub-types
- Autosomal dominant osteopetrosis 1 0 trials
- Autosomal dominant osteopetrosis 2 0 trials
- Osteopetrosis, autosomal dominant 3 0 trials
- Osteopetrosis, autosomal dominant 4 0 trials
Autosomal dominant popliteal pterygium syndrome 0 trials
Autosomal dominant primary microcephaly 0 trials
3 sub-types
- Microcephaly 18, primary, autosomal dominant 0 trials
- Microcephaly 26, primary, autosomal dominant 0 trials
- Microcephaly 27, primary, autosomal dominant 0 trials
Autosomal dominant proximal renal tubular acidosis 0 trials
Autosomal dominant rhegmatogenous retinal detachment 0 trials
Autosomal dominant severe congenital neutropenia 0 trials
3 sub-types
- Neutropenia, lethal congenital, with eosinophilia 0 trials
- Neutropenia, severe congenital, 1, autosomal dominant 0 trials
- Neutropenia, severe congenital, 2, autosomal dominant 0 trials
Autosomal dominant sideroblastic anemia 0 trials
Autosomal dominant spastic ataxia 0 trials
3 sub-types
- Spastic ataxia 1 0 trials
- Spastic ataxia 11, autosomal dominant 0 trials
- Spastic ataxia 7 0 trials
Autosomal dominant spondylocostal dysostosis 0 trials
Autosomal dominant titinopathy 0 trials
4 sub-types
- Dilated cardiomyopathy 1G 0 trials
- Hypertrophic cardiomyopathy 9 0 trials
- Myopathy, myofibrillar, 9, with early respiratory failure 0 trials
- Tibial muscular dystrophy 0 trials
Blepharocheilodontic syndrome 0 trials
3 sub-types
- Martinez Monasterio Pinheiro syndrome 0 trials
- Blepharocheilodontic syndrome 1 0 trials
- Blepharocheilodontic syndrome 2 0 trials
Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 trials
5 sub-types
Branchio-oto-renal syndrome 0 trials
2 sub-types
- Branchiootorenal syndrome 1 0 trials
- Branchiootorenal syndrome 2 0 trials
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
3 sub-types
- Monilethrix-1 0 trials
- Monilethrix-2 0 trials
- Monilethrix-3 0 trials
Multiple endocrine neoplasia type 4 0 trials
Neuronopathy, distal hereditary motor, autosomal dominant 0 trials
11 sub-types
- Distal hereditary motor neuropathy type 2 0 trials Sub-types →
- Distal hereditary motor neuropathy type 7 0 trials Sub-types →
- Hereditary spastic paraplegia 17 0 trials
- Myopathy, myofibrillar, 13, with rimmed vacuoles 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 1 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 10 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 11 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 15 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 8 0 trials
- Neuronopathy, distal hereditary motor, type 5 0 trials Sub-types →
- Neuronopathy, distal hereditary motor, type 9 0 trials
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

Most studied deeper sub-types

Machado-Joseph disease (11) Spinocerebellar ataxia type 1 (10) Spinocerebellar ataxia type 2 (10) Spinocerebellar ataxia type 6 (9) Intellectual developmental disorder 61 (5) Dentatorubral-pallidoluysian atrophy (4) Severe intellectual disability-progressive spastic diplegia syndrome (4) Spinocerebellar ataxia type 10 (4) Spinocerebellar ataxia type 8 (4) Charcot-Marie-Tooth disease type 1B (3) Charcot-Marie-Tooth disease type 2J (2) Intellectual disability-severe speech delay-mild dysmorphism syndrome (2) KBG syndrome (2) Machado-Joseph disease type 3 (2) Mowat-Wilson syndrome (2) Spinocerebellar ataxia type 27 (2) Autism spectrum disorder due to AUTS2 deficiency (1) Autosomal dominant Charcot-Marie-Tooth disease type 2M (1) Bohring-Opitz syndrome (1) Charcot-Marie-Tooth disease type 2I (1)

Including sub-types (699) Tagged with Autosomal dominant disease (0)

Trials to join now! 288 Not yet recruiting 74 Not yet finished but already full! 173 Completed 139 Terminated 25

Autosomal dominant disease

Where it sits in the disease tree

Most studied deeper sub-types

Cancer drug tested against deadly infant heart disease

Could a daily pill tame rare cancers in teens? new trial investigates

Can targeted brain zaps ease movement problems in a rare ataxia?

Immune cells tailored to attack lung cancer show promise in early trial

Can brain stimulation tame ataxia?

Blood test may let cancer patients take safe breaks from immunotherapy

Can a Two-Drug combo stop a rare, aggressive nerve tumor?

Purple potatoes put to the test: a Heart-Healthy superfood in the making?

Can a gentle electric field fix a racing heart?

Could a common cholesterol pill be the key to slowing a deadly kidney disease?

New platform trial takes on NF2 tumors with multiple drug strategies

Could a cancer drug shrink brain tumors and save hearing in a rare nerve disorder?

Drug combo aims to shrink NF2 tumors and save hearing

Could a sublingual tablet repair the Brain's leaky barrier in CADASIL?

New daily pill aims to tame stubborn seizures in tuberous sclerosis

Can a Low-Carb diet calm kidney disease inflammation?

New study could change how Men's UTIs are treated

Could a cancer drug boost social abilities in rare genetic condition?

Smart patches could save hearts: hospital trial tests continuous monitoring

Glowing goggles could prevent calcium crash after thyroid surgery

First human trial of TS1-ASO aims to tame rare genetic brain disorder

Sound waves may help clear Alzheimer's brain clogs

New registry to monitor Belzutifan's Real-World impact on rare VHL tumors

Could Low-Dose radiation slow Alzheimer's? new trial aims to find out

Could stem cells help people with spinocerebellar ataxia? new trial aims to find out

New drug combo aims to tackle tough brain tumors in NF1 patients

Can a cholesterol drug stop a heart valve from hardening?

Could a High-Fat diet prevent aortic surgery in marfan patients?

One-Patient trial aims to treat Ultra-Rare genetic disorder

Could stem cells help people with spinocerebellar ataxia?

Could immunotherapy spare some colon cancer patients from surgery?

Dietary intervention aims to slow kidney cyst progression

New pill aims to shrink tumors in rare nerve disorder

Can a simple blood test spot ovarian cancer before it starts?

Liquid biopsies may let lynch syndrome patients skip half their colonoscopies

Could a pill camera replace the colonoscopy for lynch syndrome patients?

AI-Powered 1-Minute ECG could spot hidden heart risks

Saliva test may unlock genetic secrets missed by blood tests

New DNA sequencer could make genetic testing cheaper and faster

Could a vaccine stop cancer before it starts in lynch syndrome?

Personalized vaccine aims to stop lynch syndrome cancers before they start

New ointment could tame HHT nosebleeds

Thinking through tasks: a new therapy aims to help kids with intellectual disability master daily life

Rewiring the brain to silence chronic pain — a bold psychological therapy is put to the test

Vibrating needles could ease back pain without extra risk

Robot-Assisted mastectomy: could it mean less pain and faster healing?

Could you help scientists unlock genetic cancer secrets?

Why do some children arrive at the ER with a racing or skipping heart?

Patients and staff team up to redesign hospital clinics for sensory needs

A routine calcium reading could reveal how sick a sepsis patient really is

Wearable patches could spot heart danger hiding in cancer treatment

Will a kidney disease drug alter birth control?

New online toolkit aims to boost cancer screening in lynch syndrome families

New program aims to keep High-Risk cancer gene carriers on track with screenings

New program aims to boost family communication about genetic risks

Scientists track hidden brain tumors in children with rare genetic condition

Thyroid hormones may hold clues to kidney disease progression

French biobank aims to unlock secrets of rare brain vessel diseases

Blood test may reveal hidden heart damage in AFib patients

Rare syndrome linked to higher post-transplant cancer risk – study aims to find out why

Could lynch syndrome raise your risk of gum disease?

New online program aims to boost genetic cancer testing in african american families

Can a simple walk test spot motor trouble in kids with NF1?

Could a greener anesthesia method be safer for your heart?

New drug interaction study launches for polycystic kidney disease treatment

Can reusing heart catheters be safe and green? new study investigates

Rare syndrome study aims to map dental and facial patterns

New study to measure daily life impact of rare bleeding disorder in youth

New Drug's heart effects under microscope in early safety trial

Healthy men to help unravel how new kidney drug is processed

What keeps marfan patients from exercising? new study aims to find out

1,100-Patient study aims to predict repeat heart ablation success

New kidney drug interaction study launches in healthy volunteers

Researchers to examine bone density in rare genetic disorders