MCID: ATS008
MIFTS: 46

Autosomal Dominant Disease

Categories: Genetic diseases

Aliases & Classifications for Autosomal Dominant Disease

MalaCards integrated aliases for Autosomal Dominant Disease:

Name: Autosomal Dominant Disease 12 15
Autosomal Dominant Disorder 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050736

Summaries for Autosomal Dominant Disease

Disease Ontology : 12 An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.

MalaCards based summary : Autosomal Dominant Disease, also known as autosomal dominant disorder, is related to colorectal cancer, hereditary nonpolyposis, type 7 and colorectal cancer, hereditary nonpolyposis, type 4. An important gene associated with Autosomal Dominant Disease is ALX4 (ALX Homeobox 4), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and Pathways in cancer. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autosomal Dominant Disease

Diseases related to Autosomal Dominant Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 426)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer, hereditary nonpolyposis, type 7 31.8 MLH1 MLH3 MSH2
2 colorectal cancer, hereditary nonpolyposis, type 4 31.8 MLH1 MSH2 PMS2
3 colorectal cancer, hereditary nonpolyposis, type 5 31.7 MLH1 MSH2 MSH6
4 muir-torre syndrome 31.7 MLH1 MSH2 MSH6 PMS2
5 lynch syndrome i 31.6 EPCAM MLH1 MSH2 MSH6 PMS2
6 basal cell nevus syndrome 31.6 PTCH1 PTCH2 SHH SUFU
7 lynch syndrome 31.3 EPCAM MLH1 MLH3 MSH2 MSH6 PMS2
8 basal cell carcinoma 30.1 PTCH1 PTCH2 SHH SUFU
9 aromatase excess syndrome 11.2
10 polycystic kidney disease 1 with or without polycystic liver disease 11.1
11 storm syndrome 11.0
12 polycystic kidney disease 2 with or without polycystic liver disease 11.0
13 ataxia-pancytopenia syndrome 10.9
14 beare-stevenson cutis gyrata syndrome 10.8
15 anterior segment dysgenesis 4 10.8
16 glucocorticoid resistance, generalized 10.8
17 acromicric dysplasia 10.8
18 palmoplantar keratoderma and congenital alopecia 1 10.8
19 angioedema, hereditary, type i 10.8
20 blepharocheilodontic syndrome 1 10.8
21 erythrocytosis, familial, 1 10.8
22 renal cysts and diabetes syndrome 10.8
23 hypercholesterolemia, familial 10.8
24 pallister-hall syndrome 10.8
25 insulinomatosis and diabetes mellitus 10.8
26 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.8
27 neurofibromatosis, type i 10.8
28 osseous heteroplasia, progressive 10.8
29 peutz-jeghers syndrome 10.8
30 porphyria cutanea tarda 10.8
31 liddle syndrome 1 10.8
32 axenfeld-rieger syndrome, type 1 10.8
33 singleton-merten syndrome 1 10.8
34 bleeding disorder, platelet-type, 17 10.8
35 glomerulopathy with fibronectin deposits 2 10.8
36 welander distal myopathy 10.8
37 hyperaldosteronism, familial, type ii 10.8
38 late-onset retinal degeneration 10.8
39 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 10.8
40 erythrocytosis, familial, 4 10.8
41 bosch-boonstra-schaaf optic atrophy syndrome 10.8
42 culler-jones syndrome 10.8
43 autoinflammation with infantile enterocolitis 10.8
44 thrombocytopenia 5 10.8
45 immunodeficiency 11b with atopic dermatitis 10.8
46 neurodevelopmental disorder with poor language and loss of hand skills 10.8
47 capillary malformation-arteriovenous malformation 2 10.8
48 achondroplasia 10.7
49 adult syndrome 10.7
50 ankyloblepharon-ectodermal defects-cleft lip/palate 10.7

Graphical network of the top 20 diseases related to Autosomal Dominant Disease:



Diseases related to Autosomal Dominant Disease

Symptoms & Phenotypes for Autosomal Dominant Disease

GenomeRNAi Phenotypes related to Autosomal Dominant Disease according to GeneCards Suite gene sharing:

27 (show top 50) (show all 51)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.49 PMS2 PTCH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.49 FGFR3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.49 MSH2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.49 FGFR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.49 EPCAM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.49 MSH2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.49 EPCAM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.49 PMS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.49 EPCAM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.49 EPCAM MSH2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.49 PMS2 PTCH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.49 PMS2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.49 PTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.49 PMS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.49 MSH2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.49 EPCAM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.49 MSH2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.49 MSH2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.49 PMS2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.49 FGFR3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.49 MSH2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.49 PMS2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.49 EPCAM FGFR3 MSH2 PMS2 PTCH1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.49 EPCAM PTCH1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.49 FGFR3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.49 EPCAM
27 no effect GR00402-S-1 10.46 ABCC8 ALX4 COL2A1 EFEMP1 EPCAM FGFR3
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.35 TGFBR2
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.35 TGFBR2
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.35 EPCAM
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.35 TGFBR2
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.35 TGFBR2
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.35 SALL1
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.35 SALL1 TGFBR2
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.35 EFEMP1
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.35 SALL1
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.35 EFEMP1 SALL1
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.35 EFEMP1 EPCAM SALL1 TGFBR2
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 10.35 EPCAM
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.35 TGFBR2
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.35 TGFBR2
42 Decreased viability GR00106-A-0 10.28 PTCH2
43 Decreased viability GR00107-A-1 10.28 TGFBR2
44 Decreased viability GR00221-A-1 10.28 FGFR3 PTCH2 TGFBR2
45 Decreased viability GR00221-A-2 10.28 FGFR3 PTCH2
46 Decreased viability GR00221-A-3 10.28 FGFR3 PTCH2 SHH TGFBR2
47 Decreased viability GR00221-A-4 10.28 PTCH2 TGFBR2
48 Decreased viability GR00301-A 10.28 PTCH2
49 Decreased viability GR00402-S-2 10.28 FGFR3 PTCH2 SHH TGFBR2
50 shRNA abundance <= 50% GR00343-S 9.65 ALX4 FGFR3 HMBS MSH2 PAX3 PITX2

MGI Mouse Phenotypes related to Autosomal Dominant Disease:

47 (show all 27)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.51 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 MLH1
2 homeostasis/metabolism MP:0005376 10.47 ABCC8 COL2A1 EFEMP1 EPCAM FGFR3 HMBS
3 cellular MP:0005384 10.44 COL2A1 EPCAM FGFR3 MLH1 MSH2 MSH6
4 mortality/aging MP:0010768 10.44 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 HMBS
5 immune system MP:0005387 10.43 COL2A1 EFEMP1 EPCAM FGFR3 MLH1 MSH2
6 behavior/neurological MP:0005386 10.41 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 HMBS
7 hematopoietic system MP:0005397 10.39 EFEMP1 EPCAM FGFR3 MLH1 MSH2 MSH6
8 cardiovascular system MP:0005385 10.37 COL2A1 EFEMP1 EPCAM PAX3 PITX2 PTCH1
9 growth/size/body region MP:0005378 10.37 ALX4 COL2A1 EFEMP1 EPCAM FGFR3 PAX3
10 endocrine/exocrine gland MP:0005379 10.34 ABCC8 EFEMP1 EPCAM MLH1 MLH3 PAX3
11 embryo MP:0005380 10.3 ALX4 COL2A1 EPCAM PAX3 PITX2 PTCH1
12 nervous system MP:0003631 10.3 ALX4 COL2A1 EPCAM FGFR3 HMBS MSH2
13 integument MP:0010771 10.29 ALX4 EFEMP1 FGFR3 MLH1 MSH2 MSH6
14 craniofacial MP:0005382 10.27 ALX4 COL2A1 FGFR3 PAX3 PITX2 PTCH1
15 neoplasm MP:0002006 10.22 FGFR3 MLH1 MSH2 MSH6 PAX3 PMS2
16 normal MP:0002873 10.22 ALX4 COL2A1 EFEMP1 FGFR3 HMBS PAX3
17 limbs/digits/tail MP:0005371 10.19 ALX4 COL2A1 FGFR3 PAX3 PITX2 PTCH1
18 muscle MP:0005369 10.15 ALX4 EFEMP1 HMBS PAX3 PITX2 PTCH1
19 liver/biliary system MP:0005370 10.13 COL2A1 EFEMP1 PAX3 PITX2 PMS2 SHH
20 hearing/vestibular/ear MP:0005377 10.06 COL2A1 FGFR3 PAX3 PTCH1 SALL1 SHH
21 no phenotypic analysis MP:0003012 10.03 ABCC8 EPCAM FGFR3 PAX3 PITX2 PTCH1
22 renal/urinary system MP:0005367 9.92 COL2A1 EFEMP1 FGFR3 HMBS PAX3 PTCH1
23 reproductive system MP:0005389 9.91 EFEMP1 FGFR3 MLH1 MLH3 PITX2 PMS2
24 respiratory system MP:0005388 9.85 ALX4 COL2A1 FGFR3 MLH1 PAX3 PITX2
25 pigmentation MP:0001186 9.77 EFEMP1 PAX3 PITX2 PTCH1 SUFU
26 skeleton MP:0005390 9.7 ALX4 COL2A1 EFEMP1 FGFR3 PAX3 PITX2
27 vision/eye MP:0005391 9.36 ALX4 COL2A1 EFEMP1 FGFR3 MLH1 PAX3

Drugs & Therapeutics for Autosomal Dominant Disease

Drugs for Autosomal Dominant Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3 Dopamine Uptake Inhibitors Phase 4
4 Neurotransmitter Uptake Inhibitors Phase 4
5 Neurotransmitter Agents Phase 4
6 Central Nervous System Stimulants Phase 4
7 Dopamine Agents Phase 4
8
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 5284616 6436030
9
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
10
Everolimus Approved Phase 3 159351-69-6 70789204 6442177
11 Immunosuppressive Agents Phase 3,Phase 2
12 Immunologic Factors Phase 3,Phase 2,Phase 1
13 Anti-Infective Agents Phase 3,Phase 2
14 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
15 Antifungal Agents Phase 3
16 Antibiotics, Antitubercular Phase 3,Phase 1
17 Angiogenesis Inhibitors Phase 2
18 Angiogenesis Modulating Agents Phase 2
19
Aclarubicin Investigational Phase 1 57576-44-0 451415
20 Adjuvants, Immunologic Phase 1
21 Aclacinomycins Phase 1
22 Topoisomerase Inhibitors Phase 1
23
Curcumin Approved, Experimental, Investigational Not Applicable 458-37-7 969516
24
Ethanol Approved 64-17-5 702
25 Sunflower Not Applicable
26 Soy Bean Not Applicable
27 Peripheral Nervous System Agents Not Applicable
28 Cola Not Applicable
29 Anti-Inflammatory Agents Not Applicable
30 Analgesics, Non-Narcotic Not Applicable
31 Antirheumatic Agents Not Applicable
32 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
33 Analgesics Not Applicable

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4 methylphenidate
2 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
3 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
4 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Active, not recruiting NCT02723448 Phase 1 aclarubicin
5 Effect of Rapeseed Oil and Sunflower Oil Unknown status NCT00924274 Not Applicable
6 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Unknown status NCT02520856
7 Soy Food Intervention Trial Unknown status NCT00924339 Not Applicable
8 Hereditary AngioEdema, Neurobiology and Psychopathology Unknown status NCT02159430
9 Analysis of Peripheral Nerve Sheath Tumors (PNSTs) in Neurofibromatosis Type 1 (NF1) Patients Unknown status NCT01218139
10 Microarray CGH Analysis of Circulating Tumoral Plasma DNA in NF1 Patients With MPNSTs Unknown status NCT01218152
11 Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom Completed NCT03009188
12 Effects of Soy Protein on Cholesterol Levels in Children Affected With Familial Hypercholesterolemia Completed NCT03563547 Not Applicable
13 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236
14 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Not Applicable Calcumin (Curcumin)
15 Analysis of NF2 Mutations in Radiation-Related Neural Tumors Completed NCT00340496
16 Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial Recruiting NCT02948179 Not Applicable
17 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
18 Longitudinal Studies of Patient With FPDMM Recruiting NCT03854318
19 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
20 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
21 Type 1 Multiple Endocrine Neoplasia Cohort Study Recruiting NCT03262129
22 Growth and Development of the Striatum in Huntington's Disease Enrolling by invitation NCT01860339
23 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial Terminated NCT02861911 Not Applicable

Search NIH Clinical Center for Autosomal Dominant Disease

Genetic Tests for Autosomal Dominant Disease

Anatomical Context for Autosomal Dominant Disease

MalaCards organs/tissues related to Autosomal Dominant Disease:

42
Kidney, Bone, Liver, Skin, Heart, Brain, Colon

Publications for Autosomal Dominant Disease

Articles related to Autosomal Dominant Disease:

(show all 50)
# Title Authors Year
1
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. ( 30967659 )
2019
2
Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings. ( 29887954 )
2018
3
Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review. ( 29375286 )
2017
4
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder. ( 28377322 )
2017
5
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. ( 27539938 )
2016
6
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia. ( 24716396 )
2014
7
Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis. ( 23329376 )
2013
8
Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. ( 23322711 )
2013
9
High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern Newfoundland. ( 21959335 )
2012
10
Apparent homozygosity for p.E1841K mutation in a patient with MYH9-related disorder: a misdiagnosis for an autosomal dominant disorder? ( 22211851 )
2012
11
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. ( 21224835 )
2011
12
Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder. ( 22346004 )
2011
13
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31. ( 21480481 )
2011
14
Late-onset lower motor neuronopathy: a new autosomal dominant disorder. ( 21715705 )
2011
15
Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL. ( 15221337 )
2004
16
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. ( 12749056 )
2003
17
Pseudo-likelihood estimates of the cumulative risk of an autosomal dominant disease from a kin-cohort study. ( 11180447 )
2001
18
Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. ( 11737429 )
2001
19
An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. ( 11673600 )
2001
20
WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. ( 10767001 )
2000
21
Polycystic bone disease: A new, autosomal dominant disorder. ( 10457258 )
1999
22
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. ( 9521591 )
1998
23
A unique autosomal dominant disorder with indifference to pain: clinicopathologic correlation of indifference to pain and thalamic gliosis. ( 9748671 )
1998
24
Malignant hyperthermia susceptibility, an autosomal dominant disorder? ( 9237497 )
1997
25
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. ( 9212761 )
1997
26
Hereditary thermosensitive neuropathy: an autosomal dominant disorder of the peripheral nervous system. ( 9191787 )
1997
27
Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay--a new autosomal dominant disorder? ( 9134293 )
1997
28
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. ( 7717420 )
1995
29
Androgenetic alopecia: an autosomal dominant disorder. ( 7825647 )
1995
30
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. ( 8456838 )
1993
31
Newly recognized autosomal dominant disorder with craniosynostosis. ( 8357019 )
1993
32
Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder. ( 8357025 )
1993
33
Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study. ( 2323526 )
1990
34
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. ( 1978558 )
1990
35
Ichthyosis follicularis in two girls: an autosomal dominant disorder. ( 1706858 )
1990
36
Genetic analysis of familial amyloidotic polyneuropathy, an autosomal dominant disease. ( 2559819 )
1989
37
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. ( 2725645 )
1989
38
Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder. ( 3352913 )
1988
39
Ichthyosis-cheek-eyebrow (ICE) syndrome: a new autosomal dominant disorder. ( 3568439 )
1987
40
Infantile myofibromatosis. Evidence for an autosomal-dominant disorder. ( 6742314 )
1984
41
Familial neonatal and infantile seizures: an autosomal-dominant disorder. ( 6476007 )
1984
42
Dyskeratosis congenita: an autosomal dominant disorder. ( 7096665 )
1982
43
The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors. ( 7079022 )
1982
44
Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorder. ( 758579 )
1979
45
[Hereditary chronic pancreatitis: an autosomal dominant disease (author's transl)]. ( 227088 )
1979
46
Dentin dysplasia, type II: a rare autosomal dominant disorder. ( 269353 )
1977
47
A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. ( 890102 )
1977
48
Familial hyperglucagonemia--an autosomal dominant disorder. ( 189188 )
1977
49
Hereditary phlebectasis of the lips. An autosomal dominant disorder. ( 1275529 )
1976
50
Complete failure of eruption of all permanent teeth: an autosomal dominant disorder. ( 4851123 )
1974

Variations for Autosomal Dominant Disease

Expression for Autosomal Dominant Disease

Search GEO for disease gene expression data for Autosomal Dominant Disease.

Pathways for Autosomal Dominant Disease

GO Terms for Autosomal Dominant Disease

Cellular components related to Autosomal Dominant Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 male germ cell nucleus GO:0001673 9.32 MLH1 MLH3
2 MutSalpha complex GO:0032301 9.26 MSH2 MSH6
3 chiasma GO:0005712 9.16 MLH1 MLH3
4 MutLalpha complex GO:0032389 9.13 MLH1 MLH3 PMS2
5 mismatch repair complex GO:0032300 9.02 MLH1 MLH3 MSH2 MSH6 PMS2

Biological processes related to Autosomal Dominant Disease according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.98 ABCC8 PMS2 PTCH1 TGFBR2
2 DNA repair GO:0006281 9.98 MLH1 MLH3 MSH2 MSH6 PMS2
3 skeletal system development GO:0001501 9.83 ALX4 COL2A1 FGFR3 SUFU
4 determination of left/right symmetry GO:0007368 9.82 PITX2 SHH SUFU
5 camera-type eye development GO:0043010 9.82 EFEMP1 PITX2 SHH
6 roof of mouth development GO:0060021 9.81 ALX4 COL2A1 SHH
7 heart looping GO:0001947 9.8 SHH SUFU TGFBR2
8 embryonic digit morphogenesis GO:0042733 9.78 ALX4 SALL1 SHH
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.77 MLH1 MSH2 MSH6
10 branching involved in ureteric bud morphogenesis GO:0001658 9.72 PTCH1 SALL1 SHH
11 skin development GO:0043588 9.71 PTCH2 SHH SUFU
12 cell fate determination GO:0001709 9.68 PTCH1 PTCH2
13 negative regulation of DNA recombination GO:0045910 9.68 MSH2 MSH6
14 somite development GO:0061053 9.67 PTCH1 SHH
15 determination of adult lifespan GO:0008340 9.67 MSH2 MSH6
16 prostate gland development GO:0030850 9.67 PTCH1 SHH
17 dorsal/ventral neural tube patterning GO:0021904 9.66 PTCH1 SHH
18 limb bud formation GO:0060174 9.66 COL2A1 SHH
19 positive regulation of isotype switching to IgG isotypes GO:0048304 9.65 MLH1 MSH2
20 positive regulation of epidermal cell differentiation GO:0045606 9.63 PTCH1 PTCH2
21 positive regulation of helicase activity GO:0051096 9.63 MSH2 MSH6
22 lung lobe morphogenesis GO:0060463 9.62 SHH TGFBR2
23 smoothened signaling pathway GO:0007224 9.62 PTCH1 PTCH2 SHH TGFBR2
24 negative regulation of smoothened signaling pathway GO:0045879 9.61 PTCH1 PTCH2 SUFU
25 maintenance of DNA repeat elements GO:0043570 9.58 MSH2 MSH6
26 limb morphogenesis GO:0035108 9.58 ALX4 COL2A1 PTCH1
27 positive regulation of isotype switching to IgA isotypes GO:0048298 9.57 MLH1 MSH2
28 spinal cord dorsal/ventral patterning GO:0021513 9.56 SHH SUFU
29 pattern specification process GO:0007389 9.56 ALX4 PTCH1 SHH TGFBR2
30 isotype switching GO:0045190 9.54 MLH1 MSH2 MSH6
31 trachea morphogenesis GO:0060439 9.49 SHH TGFBR2
32 epidermal cell fate specification GO:0009957 9.48 PTCH1 PTCH2
33 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.46 MLH1 MSH2
34 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
35 pyrimidine dimer repair GO:0006290 9.31 MSH6
36 replication fork arrest GO:0043111 9.3 MSH6
37 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
38 meiotic mismatch repair GO:0000710 9.21 MSH6
39 mismatch repair GO:0006298 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
40 cellular response to DNA damage stimulus GO:0006974 10.05 MLH1 MLH3 MSH2 MSH6 PMS2

Molecular functions related to Autosomal Dominant Disease according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.63 ABCC8 MLH1 MLH3 MSH2 MSH6 PMS2
2 HMG box domain binding GO:0071837 9.57 ALX4 PAX3
3 four-way junction DNA binding GO:0000400 9.56 MSH2 MSH6
4 patched binding GO:0005113 9.55 PTCH1 SHH
5 centromeric DNA binding GO:0019237 9.54 MLH3 MSH2
6 MutLalpha complex binding GO:0032405 9.52 MSH2 MSH6
7 MutSalpha complex binding GO:0032407 9.51 MLH1 PMS2
8 oxidized purine DNA binding GO:0032357 9.49 MSH2 MSH6
9 single thymine insertion binding GO:0032143 9.46 MSH2 MSH6
10 hedgehog family protein binding GO:0097108 9.43 PTCH1 PTCH2
11 single-stranded DNA binding GO:0003697 9.43 MLH1 MSH2 PMS2
12 hedgehog receptor activity GO:0008158 9.4 PTCH1 PTCH2
13 single guanine insertion binding GO:0032142 9.37 MSH2 MSH6
14 smoothened binding GO:0005119 9.32 PTCH1 PTCH2
15 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
16 mismatched DNA binding GO:0030983 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
17 ATP binding GO:0005524 10.08 ABCC8 FGFR3 MLH1 MLH3 MSH2 MSH6

Sources for Autosomal Dominant Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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