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 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 is related to familial adenomatous polyposis and lynch syndrome i. An important gene associated with Autosomal Dominant Disease is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are Endometrial cancer and DNA Damage. 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 144)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 31.9 MLH1 MSH2 MSH6
2 lynch syndrome i 31.6 EPCAM MLH1 MSH2 MSH6 PMS2
3 beare-stevenson cutis gyrata syndrome 31.0 FGFR2 FGFR3
4 lynch syndrome 31.0 EPCAM MLH1 MLH3 MSH2 MSH6 PMS2
5 hemifacial hyperplasia 10.9 FGFR2 FGFR3
6 polycystic kidney disease 1 with or without polycystic liver disease 10.9
7 lower lip cancer 10.9 MLH1 MSH2
8 cecum adenocarcinoma 10.9 MLH1 MSH2 MSH6
9 childhood kidney cell carcinoma 10.9 MLH1 MSH2 PAX3
10 inverted follicular keratosis 10.9 HMBS SALL1
11 plagiocephaly 10.8 FGFR2 FGFR3
12 skin benign neoplasm 10.8 MLH1 MSH2 MSH6
13 anal fistula 10.8 MLH1 MSH2
14 colorectal adenocarcinoma 10.8 MLH1 MSH2 MSH6
15 appendix carcinoid tumor 10.8 MLH1 MSH2 MSH6 PMS2
16 adenosquamous colon carcinoma 10.8 MLH1 MSH2 MSH6 PMS2
17 sebaceous adenoma 10.8 MLH1 MSH2 MSH6 PMS2
18 polycystic kidney disease 2 with or without polycystic liver disease 10.8
19 attenuated familial adenomatous polyposis 10.8 MSH2 MSH6
20 sebaceous adenocarcinoma 10.8 MLH1 MSH2 MSH6 PMS2
21 osteoglophonic dysplasia 10.8 FGFR2 FGFR3
22 muir-torre syndrome 10.8 MLH1 MSH2 MSH6 PMS2
23 female reproductive organ cancer 10.7 MLH1 MSH2 MSH6 PMS2
24 muenke syndrome 10.7 FGFR2 FGFR3 PTCH1
25 bone development disease 10.7 COL2A1 FGFR2 FGFR3
26 anterior segment dysgenesis 4 10.7
27 glucocorticoid resistance, generalized 10.7
28 septopreoptic holoprosencephaly 10.6 PTCH1 SHH
29 craniosynostosis 10.6 ALX4 FGFR2 FGFR3 TGFBR2
30 autosomal genetic disease 10.6 MLH1 MSH2 MSH6 PMS2 PTCH1
31 mismatch repair cancer syndrome 10.6 MLH1 MSH2 MSH6 PAX3 PMS2
32 midline interhemispheric variant of holoprosencephaly 10.5 PTCH1 SHH
33 rhabdomyosarcoma 10.5 MSH2 MSH6 PAX3 PMS2 PTCH1
34 gastrointestinal system cancer 10.5 EPCAM MLH1 MSH2 MSH6 PMS2
35 achondroplasia 10.5
36 adult syndrome 10.5
37 ankyloblepharon-ectodermal defects-cleft lip/palate 10.5
38 townes-brocks syndrome 1 10.5
39 basal cell nevus syndrome 10.5
40 branchiooculofacial syndrome 10.5
41 popliteal pterygium syndrome 10.5
42 papillorenal syndrome 10.5
43 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 10.5
44 corneal dystrophy, fleck 10.5
45 craniofacial-deafness-hand syndrome 10.5
46 vohwinkel syndrome 10.5
47 doyne honeycomb retinal dystrophy 10.5
48 rapp-hodgkin syndrome 10.5
49 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.5
50 multiple endocrine neoplasia, type i 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:

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.19 PMS2 PTCH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.19 FGFR3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.19 MSH2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.19 FGFR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.19 EPCAM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.19 MSH2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.19 EPCAM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.19 PMS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.19 EPCAM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.19 MSH2 EPCAM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.19 PMS2 PTCH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.19 PMS2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.19 PTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.19 PMS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.19 MSH2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.19 EPCAM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.19 MSH2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.19 MSH2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.19 PMS2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.19 FGFR3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.19 MSH2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.19 PMS2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.19 FGFR3 MSH2 PMS2 PTCH1 EPCAM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.19 PTCH1 EPCAM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.19 FGFR3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.19 EPCAM
27 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.1 HMBS MLH1 MLH3 MSH6 PMS2 SALL1

MGI Mouse Phenotypes related to Autosomal Dominant Disease:

46 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.52 COL2A1 EPCAM FGFR2 FGFR3 GJB2 MLH1
2 mortality/aging MP:0010768 10.47 PMS2 PTCH1 SALL1 SHH TGFBR2 VCP
3 digestive/alimentary MP:0005381 10.45 ALX4 COL2A1 EPCAM FGFR2 FGFR3 MLH1
4 behavior/neurological MP:0005386 10.44 EPCAM FGFR2 FGFR3 HMBS PAX3 PITX2
5 growth/size/body region MP:0005378 10.43 SHH TGFBR2 VCP ALX4 COL2A1 DLX3
6 homeostasis/metabolism MP:0005376 10.43 COL2A1 EPCAM FGFR2 FGFR3 GJB2 HMBS
7 cardiovascular system MP:0005385 10.4 COL2A1 DLX3 EPCAM FGFR2 GJB2 PAX3
8 immune system MP:0005387 10.39 EPCAM FGFR2 FGFR3 GJB2 MSH2 MSH6
9 embryo MP:0005380 10.38 ALX4 COL2A1 DLX3 EPCAM FGFR2 GJB2
10 endocrine/exocrine gland MP:0005379 10.33 DLX3 EPCAM FGFR2 MLH1 MLH3 PAX3
11 craniofacial MP:0005382 10.31 PITX2 PTCH1 SHH TGFBR2 ALX4 COL2A1
12 hematopoietic system MP:0005397 10.31 EPCAM FGFR2 FGFR3 MSH2 TGFBR2 VCP
13 integument MP:0010771 10.31 ALX4 DLX3 FGFR2 FGFR3 GJB2 MLH1
14 nervous system MP:0003631 10.31 ALX4 COL2A1 EPCAM FGFR2 FGFR3 GJB2
15 limbs/digits/tail MP:0005371 10.26 ALX4 COL2A1 FGFR2 FGFR3 GJB2 PAX3
16 hearing/vestibular/ear MP:0005377 10.18 COL2A1 FGFR2 FGFR3 GJB2 PAX3 PTCH1
17 neoplasm MP:0002006 10.16 TGFBR2 FGFR2 FGFR3 MLH1 MSH2 MSH6
18 normal MP:0002873 10.15 FGFR3 GJB2 HMBS PAX3 PITX2 PTCH1
19 muscle MP:0005369 10.13 SHH TGFBR2 VCP ALX4 FGFR2 HMBS
20 liver/biliary system MP:0005370 10.05 COL2A1 FGFR2 PAX3 PITX2 PMS2 SHH
21 no phenotypic analysis MP:0003012 10.01 EPCAM FGFR2 FGFR3 GJB2 PAX3 PITX2
22 renal/urinary system MP:0005367 9.92 COL2A1 FGFR2 FGFR3 HMBS PAX3 PTCH1
23 reproductive system MP:0005389 9.91 FGFR2 FGFR3 GJB2 MLH1 MLH3 PITX2
24 respiratory system MP:0005388 9.85 PAX3 PITX2 PTCH1 SHH TGFBR2 ALX4
25 skeleton MP:0005390 9.73 ALX4 COL2A1 FGFR2 FGFR3 GJB2 PAX3
26 vision/eye MP:0005391 9.36 ALX4 COL2A1 FGFR2 FGFR3 GJB2 MLH1

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 5284616 6436030 46835353
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 Not Applicable
17 Soy Bean Nutraceutical Not Applicable

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 Not Applicable
5 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Unknown status NCT02520856
6 Soy Food Intervention Trial Unknown status NCT00924339 Not Applicable
7 Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial Recruiting NCT02948179 Not Applicable
8 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families Recruiting NCT00230620
9 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial Recruiting NCT02861911 Not Applicable
10 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Recruiting NCT03348501
11 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
12 Growth and Development of the Striatum in Huntington's Disease Enrolling by invitation NCT01860339

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:

41
Kidney

Publications for Autosomal Dominant Disease

Articles related to Autosomal Dominant Disease:

# Title Authors Year
1
Comparative analysis of the two extremes of <i>FLNB</i>-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings. ( 29887954 )
2018
2
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. ( 27539938 )
2016
3
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES). ( 22981789 )
2012
4
High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern Newfoundland. ( 21959335 )
2012
5
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. ( 21224835 )
2011
6
Pseudo-likelihood estimates of the cumulative risk of an autosomal dominant disease from a kin-cohort study. ( 11180447 )
2001
7
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. ( 9521591 )
1998
8
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. ( 1978558 )
1990
9
Genetic analysis of familial amyloidotic polyneuropathy, an autosomal dominant disease. ( 2559819 )
1989
10
[Hereditary chronic pancreatitis: an autosomal dominant disease (author's transl)]. ( 227088 )
1979

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 mismatch repair complex GO:0032300 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
5 chiasma GO:0005712 8.96 MLH1 MLH3
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 57)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.91 MLH1 MLH3 MSH2 MSH6 PMS2 VCP
2 smoothened signaling pathway GO:0007224 9.88 PTCH1 SHH TGFBR2
3 vasculogenesis GO:0001570 9.87 PITX2 SHH TGFBR2
4 embryonic digit morphogenesis GO:0042733 9.87 ALX4 SALL1 SHH
5 odontogenesis of dentin-containing tooth GO:0042475 9.86 DLX3 PITX2 SHH
6 pattern specification process GO:0007389 9.86 ALX4 PTCH1 SHH
7 inner ear development GO:0048839 9.85 COL2A1 GJB2 SHH
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.85 MLH1 MSH2 MSH6
9 in utero embryonic development GO:0001701 9.85 FGFR2 MSH2 PITX2 PTCH1 TGFBR2
10 branching involved in ureteric bud morphogenesis GO:0001658 9.83 PTCH1 SALL1 SHH
11 ureteric bud development GO:0001657 9.82 EPCAM FGFR2 SALL1
12 digestive tract development GO:0048565 9.82 ALX4 FGFR2 TGFBR2
13 skeletal system morphogenesis GO:0048705 9.81 ALX4 COL2A1 FGFR2
14 lung development GO:0030324 9.81 FGFR2 PITX2 SHH TGFBR2
15 embryonic organ development GO:0048568 9.8 FGFR2 PTCH1 SHH
16 positive regulation of Wnt signaling pathway GO:0030177 9.79 FGFR2 SALL1 SHH
17 odontogenesis GO:0042476 9.79 FGFR2 PITX2 SHH
18 roof of mouth development GO:0060021 9.78 ALX4 COL2A1 SHH TGFBR2
19 branching involved in blood vessel morphogenesis GO:0001569 9.76 PITX2 SHH TGFBR2
20 embryonic hindlimb morphogenesis GO:0035116 9.75 ALX4 PITX2 SHH
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.74 FGFR2 SHH TGFBR2
22 prostate gland development GO:0030850 9.72 PTCH1 SHH
23 somite development GO:0061053 9.72 PTCH1 SHH
24 dorsal/ventral neural tube patterning GO:0021904 9.72 PTCH1 SHH
25 animal organ morphogenesis GO:0009887 9.72 FGFR2 PAX3 PITX2 PTCH1 TGFBR2
26 determination of adult lifespan GO:0008340 9.71 MSH2 MSH6
27 branching involved in salivary gland morphogenesis GO:0060445 9.71 FGFR2 SHH
28 membranous septum morphogenesis GO:0003149 9.71 FGFR2 TGFBR2
29 positive regulation of isotype switching to IgG isotypes GO:0048304 9.7 MLH1 MSH2
30 positive regulation of phospholipase activity GO:0010518 9.7 FGFR2 FGFR3
31 lung-associated mesenchyme development GO:0060484 9.7 FGFR2 SHH
32 limb morphogenesis GO:0035108 9.7 ALX4 COL2A1 PTCH1
33 endochondral bone growth GO:0003416 9.69 FGFR2 FGFR3
34 positive regulation of helicase activity GO:0051096 9.68 MSH2 MSH6
35 negative regulation of DNA recombination GO:0045910 9.67 MSH2 MSH6
36 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.67 FGFR2 SHH
37 embryonic digestive tract morphogenesis GO:0048557 9.67 FGFR2 PITX2 SHH
38 branching involved in prostate gland morphogenesis GO:0060442 9.66 FGFR2 SHH
39 maintenance of DNA repeat elements GO:0043570 9.66 MSH2 MSH6
40 positive regulation of isotype switching to IgA isotypes GO:0048298 9.65 MLH1 MSH2
41 trachea morphogenesis GO:0060439 9.63 SHH TGFBR2
42 meiotic mismatch repair GO:0000710 9.63 MSH2 MSH6
43 mesenchymal cell proliferation involved in lung development GO:0060916 9.61 FGFR2 SHH
44 prostate epithelial cord elongation GO:0060523 9.6 FGFR2 SHH
45 isotype switching GO:0045190 9.58 MLH1 MSH2 MSH6
46 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.55 MLH1 MSH2
47 limb bud formation GO:0060174 9.54 COL2A1 FGFR2 SHH
48 lung lobe morphogenesis GO:0060463 9.43 FGFR2 SHH TGFBR2
49 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
50 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.97 FGFR2 FGFR3 MLH1 MLH3 MSH2 MSH6
2 chromatin binding GO:0003682 9.96 DLX3 MLH1 MLH3 MSH6 PITX2
3 ATPase activity GO:0016887 9.73 MLH1 MLH3 MSH2 MSH6 PMS2 VCP
4 single-stranded DNA binding GO:0003697 9.71 MLH1 MLH3 MSH2 PMS2
5 ADP binding GO:0043531 9.63 MSH2 MSH6 VCP
6 four-way junction DNA binding GO:0000400 9.58 MSH2 MSH6
7 patched binding GO:0005113 9.55 PTCH1 SHH
8 oxidized purine DNA binding GO:0032357 9.54 MSH2 MSH6
9 MutLalpha complex binding GO:0032405 9.52 MSH2 MSH6
10 centromeric DNA binding GO:0019237 9.51 MLH3 MSH2
11 MutSalpha complex binding GO:0032407 9.49 MLH1 PMS2
12 fibroblast growth factor-activated receptor activity GO:0005007 9.48 FGFR2 FGFR3
13 single guanine insertion binding GO:0032142 9.43 MSH2 MSH6
14 single thymine insertion binding GO:0032143 9.37 MSH2 MSH6
15 guanine/thymine mispair binding GO:0032137 9.33 MLH1 MSH2 MSH6
16 single base insertion or deletion binding GO:0032138 9.13 MSH2 MSH6 PMS2
17 mismatched DNA binding GO:0030983 9.02 MLH1 MLH3 MSH2 MSH6 PMS2
18 protein binding GO:0005515 10.5 COL2A1 DLX3 EPCAM FGFR2 FGFR3 MLH1

Sources for Autosomal Dominant Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....