MCID: ATS008
MIFTS: 39

Autosomal Dominant Disease

Categories: Genetic diseases

Aliases & Classifications for Autosomal Dominant Disease

MalaCards integrated aliases for Autosomal Dominant Disease:

Name: Autosomal Dominant Disease 12 14

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 is related to hereditary breast ovarian cancer syndrome and lynch syndrome i. An important gene associated with Autosomal Dominant Disease is ALX4 (ALX Homeobox 4), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, 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 135)
# Related Disease Score Top Affiliating Genes
1 hereditary breast ovarian cancer syndrome 31.6 MLH1 MSH2 MSH6
2 lynch syndrome i 31.4 EPCAM MLH1 MSH2 MSH6 PMS2
3 familial adenomatous polyposis 31.3 MLH1 MSH2 MSH6
4 lynch syndrome 31.2 EPCAM MLH1 MLH3 MSH2 MSH6 PMS2
5 beare-stevenson cutis gyrata syndrome 31.1 FGFR2 FGFR3
6 polycystic kidney disease 1 10.9
7 polycystic kidney disease 2 10.8
8 anterior segment dysgenesis 4 10.7
9 glucocorticoid resistance, generalized 10.7
10 lower lip cancer 10.6 MLH1 MSH2
11 inverted follicular keratosis 10.6 HMBS SALL1
12 cecum adenocarcinoma 10.6 MLH1 MSH2 MSH6
13 anal fistula 10.6 MLH1 MSH2
14 childhood kidney cell carcinoma 10.6 MLH1 MSH2 PAX3
15 small intestine cancer 10.6 MLH1 MSH2 MSH6
16 attenuated familial adenomatous polyposis 10.5 MSH2 MSH6
17 skin benign neoplasm 10.5 MLH1 MSH2 MSH6
18 adult syndrome 10.5
19 ankyloblepharon-ectodermal defects-cleft lip/palate 10.5
20 townes-brocks syndrome 1 10.5
21 basal cell nevus syndrome 10.5
22 branchiooculofacial syndrome 10.5
23 popliteal pterygium syndrome 10.5
24 papillorenal syndrome 10.5
25 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 10.5
26 corneal dystrophy, fleck 10.5
27 craniofacial-deafness-hand syndrome 10.5
28 vohwinkel syndrome 10.5
29 doyne honeycomb retinal dystrophy 10.5
30 rapp-hodgkin syndrome 10.5
31 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.5
32 multiple endocrine neoplasia, type i 10.5
33 erythermalgia, primary 10.5
34 fibrodysplasia ossificans progressiva 10.5
35 hand-foot-genital syndrome 10.5
36 holt-oram syndrome 10.5
37 hypochondroplasia 10.5
38 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.5
39 lacrimoauriculodentodigital syndrome 10.5
40 trichorhinophalangeal syndrome, type ii 10.5
41 larsen syndrome 10.5
42 li-fraumeni syndrome 10.5
43 skin creases, congenital symmetric circumferential, 1 10.5
44 multiple endocrine neoplasia, type iib 10.5
45 cyclic neutropenia 10.5
46 feingold syndrome 1 10.5
47 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 10.5
48 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.5
49 parietal foramina 1 10.5
50 multiple endocrine neoplasia, type iia 10.5

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:

25 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.17 PTCH1 PMS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.17 FGFR3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.17 FGFR3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.17 EPCAM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.17 MSH2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.17 EPCAM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.17 PMS2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.17 EPCAM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.17 EPCAM MSH2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.17 PTCH1 PMS2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.17 PMS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.17 PTCH1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.17 PMS2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.17 MSH2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.17 EPCAM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.17 MSH2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.17 MSH2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.17 PMS2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.17 FGFR3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.17 MSH2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.17 PMS2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.17 PTCH1 EPCAM FGFR3 MSH2 PMS2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.17 PTCH1 EPCAM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.17 FGFR3
25 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.17 EPCAM
26 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.1 SALL1 HMBS MLH1 MLH3 MSH6 PMS2

MGI Mouse Phenotypes related to Autosomal Dominant Disease:

43 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.48 EPCAM FGFR2 FGFR3 GJB2 MLH1 MSH2
2 mortality/aging MP:0010768 10.45 ALX4 DLX3 EPCAM FGFR2 FGFR3 GJB2
3 behavior/neurological MP:0005386 10.4 ALX4 EPCAM FGFR2 FGFR3 HMBS PAX3
4 digestive/alimentary MP:0005381 10.4 MSH2 PAX3 PITX2 PMS2 PTCH1 SALL1
5 homeostasis/metabolism MP:0005376 10.39 PAX3 PITX2 PMS2 PTCH1 SHH TGFBR2
6 growth/size/body region MP:0005378 10.38 VCP ALX4 DLX3 EPCAM FGFR2 FGFR3
7 cardiovascular system MP:0005385 10.35 DLX3 EPCAM FGFR2 GJB2 PAX3 PITX2
8 embryo MP:0005380 10.32 GJB2 PAX3 PITX2 PTCH1 SALL1 SHH
9 endocrine/exocrine gland MP:0005379 10.32 SHH TGFBR2 DLX3 EPCAM FGFR2 MLH1
10 immune system MP:0005387 10.31 EPCAM FGFR2 FGFR3 GJB2 MSH2 PAX3
11 integument MP:0010771 10.3 FGFR2 FGFR3 GJB2 MLH1 MSH2 MSH6
12 nervous system MP:0003631 10.28 ALX4 EPCAM FGFR2 FGFR3 GJB2 HMBS
13 craniofacial MP:0005382 10.25 ALX4 FGFR2 FGFR3 GJB2 PAX3 PITX2
14 limbs/digits/tail MP:0005371 10.21 ALX4 FGFR2 FGFR3 GJB2 PAX3 PITX2
15 neoplasm MP:0002006 10.16 MLH1 MSH2 MSH6 PAX3 PMS2 PTCH1
16 muscle MP:0005369 10.13 ALX4 FGFR2 HMBS PAX3 PITX2 PTCH1
17 normal MP:0002873 10.11 ALX4 FGFR2 FGFR3 GJB2 HMBS PAX3
18 hearing/vestibular/ear MP:0005377 10.1 FGFR2 FGFR3 GJB2 PAX3 PTCH1 SALL1
19 no phenotypic analysis MP:0003012 10.01 SHH EPCAM FGFR2 FGFR3 GJB2 PAX3
20 reproductive system MP:0005389 9.91 FGFR2 FGFR3 GJB2 MLH1 MLH3 PITX2
21 renal/urinary system MP:0005367 9.87 FGFR2 FGFR3 HMBS PAX3 PTCH1 SALL1
22 respiratory system MP:0005388 9.81 ALX4 FGFR2 FGFR3 MLH1 PAX3 PITX2
23 skeleton MP:0005390 9.7 ALX4 FGFR2 FGFR3 GJB2 PAX3 PITX2
24 vision/eye MP:0005391 9.32 FGFR3 GJB2 MLH1 PAX3 PITX2 PTCH1

Drugs & Therapeutics for Autosomal Dominant Disease

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 3 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 6436030 5284616
4 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
5 Antibiotics, Antitubercular Phase 3,Phase 1
6 Antifungal Agents Phase 3
7 Anti-Infective Agents Phase 3,Phase 2
8 Immunosuppressive Agents Phase 3,Phase 2
9 Angiogenesis Inhibitors Phase 2
10 Angiogenesis Modulating Agents Phase 2
11
Aclarubicin Investigational Phase 1 57576-44-0 451415
12 Aclacinomycins Phase 1
13 Adjuvants, Immunologic Phase 1
14 Topoisomerase Inhibitors Phase 1
15
Ethanol Approved 64-17-5 702
16 Sunflower Nutraceutical
17 Soy Bean Nutraceutical

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease Unknown status NCT02055079 Phase 3 Sirolimus;Placebo
2 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
3 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Recruiting NCT02723448 Phase 1 aclarubicin
4 Effect of Rapeseed Oil and Sunflower Oil Unknown status NCT00924274
5 Soy Food Intervention Trial Unknown status NCT00924339
6 Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial Recruiting NCT02948179
7 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
8 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial Recruiting NCT02861911
9 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Recruiting NCT02520856
10 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
11 Growth and Development of the Striatum in Huntington's Disease Recruiting NCT01860339
12 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505

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:

38
Kidney

Publications for Autosomal Dominant Disease

Articles related to Autosomal Dominant Disease:

# Title Authors Year
1
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. ( 27539938 )
2016
2
High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern Newfoundland. ( 21959335 )
2012
3
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES). ( 22981789 )
2012
4
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. ( 21224835 )
2011
5
Pseudo-likelihood estimates of the cumulative risk of an autosomal dominant disease from a kin-cohort study. ( 11180447 )
2001
6
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. ( 9521591 )
1998
7
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. ( 1978558 )
1990
8
Genetic analysis of familial amyloidotic polyneuropathy, an autosomal dominant disease. ( 2559819 )
1989

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 9.37 MLH1 MLH3
2 MutLalpha complex GO:0032389 9.26 MLH1 PMS2
3 MutSalpha complex GO:0032301 9.16 MSH2 MSH6
4 chiasma GO:0005712 8.96 MLH1 MLH3
5 mismatch repair complex GO:0032300 8.8 MLH1 MLH3 MSH2
6 nucleus GO:0005634 10.17 ALX4 DLX3 FGFR2 FGFR3 MLH1 MLH3

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.99 PITX2 PTCH1 SHH TGFBR2
2 heart development GO:0007507 9.99 PITX2 SALL1 SHH TGFBR2
3 palate development GO:0060021 9.88 ALX4 SHH TGFBR2
4 DNA repair GO:0006281 9.88 MLH1 MLH3 MSH2 MSH6 PMS2 VCP
5 smoothened signaling pathway GO:0007224 9.86 PTCH1 SHH TGFBR2
6 embryonic digit morphogenesis GO:0042733 9.85 ALX4 SALL1 SHH
7 vasculogenesis GO:0001570 9.85 PITX2 SHH TGFBR2
8 odontogenesis of dentin-containing tooth GO:0042475 9.84 DLX3 PITX2 SHH
9 pattern specification process GO:0007389 9.83 ALX4 PTCH1 SHH
10 in utero embryonic development GO:0001701 9.83 FGFR2 MSH2 PITX2 PTCH1 TGFBR2
11 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.82 MLH1 MSH2 MSH6
12 ureteric bud development GO:0001657 9.8 EPCAM FGFR2 SALL1
13 branching involved in ureteric bud morphogenesis GO:0001658 9.79 PTCH1 SALL1 SHH
14 positive regulation of Wnt signaling pathway GO:0030177 9.78 FGFR2 SALL1 SHH
15 lung development GO:0030324 9.78 FGFR2 PITX2 SHH TGFBR2
16 embryonic organ development GO:0048568 9.77 FGFR2 PTCH1 SHH
17 digestive tract development GO:0048565 9.77 ALX4 FGFR2 TGFBR2
18 odontogenesis GO:0042476 9.76 FGFR2 PITX2 SHH
19 branching involved in blood vessel morphogenesis GO:0001569 9.73 PITX2 SHH TGFBR2
20 embryonic hindlimb morphogenesis GO:0035116 9.72 ALX4 PITX2 SHH
21 animal organ morphogenesis GO:0009887 9.72 FGFR2 PAX3 PITX2 PTCH1 TGFBR2
22 prostate gland development GO:0030850 9.71 PTCH1 SHH
23 somite development GO:0061053 9.71 PTCH1 SHH
24 dorsal/ventral neural tube patterning GO:0021904 9.71 PTCH1 SHH
25 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 FGFR2 SHH TGFBR2
26 determination of adult lifespan GO:0008340 9.7 MSH2 MSH6
27 branching involved in salivary gland morphogenesis GO:0060445 9.7 FGFR2 SHH
28 limb bud formation GO:0060174 9.7 FGFR2 SHH
29 membranous septum morphogenesis GO:0003149 9.69 FGFR2 TGFBR2
30 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 MLH1 MSH2
31 positive regulation of phospholipase activity GO:0010518 9.68 FGFR2 FGFR3
32 lung-associated mesenchyme development GO:0060484 9.68 FGFR2 SHH
33 endochondral bone growth GO:0003416 9.67 FGFR2 FGFR3
34 positive regulation of helicase activity GO:0051096 9.65 MSH2 MSH6
35 negative regulation of DNA recombination GO:0045910 9.65 MSH2 MSH6
36 maintenance of DNA repeat elements GO:0043570 9.64 MSH2 MSH6
37 positive regulation of isotype switching to IgA isotypes GO:0048298 9.64 MLH1 MSH2
38 branching involved in prostate gland morphogenesis GO:0060442 9.63 FGFR2 SHH
39 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.63 FGFR2 SHH
40 embryonic digestive tract morphogenesis GO:0048557 9.63 FGFR2 PITX2 SHH
41 trachea morphogenesis GO:0060439 9.61 SHH TGFBR2
42 prostate epithelial cord elongation GO:0060523 9.58 FGFR2 SHH
43 mesenchymal cell proliferation involved in lung development GO:0060916 9.57 FGFR2 SHH
44 isotype switching GO:0045190 9.54 MLH1 MSH2 MSH6
45 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.51 MLH1 MSH2
46 lung lobe morphogenesis GO:0060463 9.43 FGFR2 SHH TGFBR2
47 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
48 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
49 mismatch repair GO:0006298 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
50 positive regulation of cell proliferation GO:0008284 10.1 EPCAM FGFR2 FGFR3 SHH TGFBR2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.93 DLX3 MLH1 MLH3 MSH6 PITX2
2 ATPase activity GO:0016887 9.63 MLH1 MLH3 MSH2 MSH6 PMS2 VCP
3 single-stranded DNA binding GO:0003697 9.62 MLH1 MLH3 MSH2 PMS2
4 ADP binding GO:0043531 9.61 MSH2 MSH6 VCP
5 four-way junction DNA binding GO:0000400 9.57 MSH2 MSH6
6 patched binding GO:0005113 9.55 PTCH1 SHH
7 oxidized purine DNA binding GO:0032357 9.52 MSH2 MSH6
8 centromeric DNA binding GO:0019237 9.51 MLH3 MSH2
9 MutLalpha complex binding GO:0032405 9.49 MSH2 MSH6
10 MutSalpha complex binding GO:0032407 9.48 MLH1 PMS2
11 fibroblast growth factor-activated receptor activity GO:0005007 9.46 FGFR2 FGFR3
12 single guanine insertion binding GO:0032142 9.4 MSH2 MSH6
13 single thymine insertion binding GO:0032143 9.26 MSH2 MSH6
14 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
15 mismatched DNA binding GO:0030983 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
16 protein binding GO:0005515 10.49 DLX3 EPCAM FGFR2 FGFR3 FTL MLH1
17 ATP binding GO:0005524 10.02 FGFR2 FGFR3 MLH1 MLH3 MSH2 MSH6

Sources for Autosomal Dominant Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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