MCID: ATS008
MIFTS: 22

Autosomal Dominant Disease malady

Summaries for Autosomal Dominant Disease

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Disease Ontology:9 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 cystic fibrosis and metabolic syndrome x. An important gene associated with Autosomal Dominant Disease is CRYBA1 (crystallin, beta A1), and among its related pathways is Development Leptin signaling via PI3K dependent pathway. The compounds salicylic acid and phenylalanine have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and normal.

Aliases & Classifications for Autosomal Dominant Disease

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Autosomal Dominant Disease, Aliases & Descriptions:

Name: Autosomal Dominant Disease 9 11


External Ids:

Disease Ontology9 DOID:0050736

Related Diseases for Autosomal Dominant Disease

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

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis10.0PKD1, ABCC8
2metabolic syndrome x9.9ABCC8, HMBS
3fibrodysplasia ossificans progressiva9.9
4larsen syndrome9.9
5adult syndrome9.9
6huntington disease9.9
7polycystic kidney disease 29.9
8iridogoniodysgenesis, type 29.9
9pseudohypoaldosteronism, type iid9.9
10axenfeld-rieger syndrome, type 39.9
11branchiooculofacial syndrome9.9
12surfactant metabolism dysfunction, pulmonary, 29.9
13trichorhinophalangeal syndrome, type i9.9
14trichorhinophalangeal syndrome, type iii9.9
15venous malformations, multiple cutaneous and mucosal9.9
16denys-drash syndrome9.9
17timothy syndrome9.9
18blau syndrome9.9
19townes-brocks syndrome9.9
20carney complex variant9.9
21tarsal-carpal coalition syndrome9.9
22rubinstein-taybi syndrome9.9
23li-fraumeni syndrome9.9
24symphalangism, proximal9.9
25roussy-levy syndrome9.9
26corneal fleck dystrophy9.9
27ladd syndrome9.9
28adenomatous polyposis coli9.9
29multiple endocrine neoplasia iia9.9
30multiple endocrine neoplasia iib9.9
31polyposis, juvenile intestinal9.9
32multiple endocrine neoplasia 19.9
33polycystic kidney disease, adult type i9.9
34mccune-albright syndrome, somatic, mosaic9.9
35hereditary hemorrhagic telangiectasia9.9
36retinitis pigmentosa9.9
37cowden disease9.9
38polycystic kidney disease9.9
39hereditary breast ovarian cancer9.9
40short qt syndrome9.9
41cold-induced sweating syndrome9.9
42polyneuropathy9.9
43retinitis9.9
44myotonic dystrophy9.9
45familial thoracic aortic aneurysm and dissection9.9
46hyper ige syndrome9.9
47vestibulocochlear dysfunction, progressive9.9
48leukemia, chronic myeloid9.7HMBS, NFKBIA

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



Diseases related to autosomal dominant disease

Symptoms for Autosomal Dominant Disease

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Drugs & Therapeutics for Autosomal Dominant Disease

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Drug clinical trials:

Search ClinicalTrials for Autosomal Dominant Disease

Search NIH Clinical Center for Autosomal Dominant Disease

Genetic Tests for Autosomal Dominant Disease

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Anatomical Context for Autosomal Dominant Disease

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Animal Models for Autosomal Dominant Disease or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Dominant Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0HMBS, ALX4, PKD1
2MP:00028737.9HMBS, NFKBIA, ALX4, PKD1

Publications for Autosomal Dominant Disease

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Articles related to Autosomal Dominant Disease:

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

Variations for Autosomal Dominant Disease

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Expression for genes affiliated with Autosomal Dominant Disease

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

Pathways for genes affiliated with Autosomal Dominant Disease

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Pathways related to Autosomal Dominant Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0NFKBIA, ABCC8

Compounds for genes affiliated with Autosomal Dominant Disease

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Sources:
43Novoseek, 28IUPHAR, 59Tocris Bioscience, 24HMDB, 12DrugBank
See all sources

Compounds related to Autosomal Dominant Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1salicylic acid43 2810.2NFKBIA, ABCC8
2phenylalanine439.0NFKBIA, ABCC8
3chloride439.0PKD1, ABCC8
4atp43 289.8HMBS, PKD1, ABCC8
5testosterone43 59 24 1211.7ABCC8, PKD1, NFKBIA
6arginine438.6HMBS, NFKBIA, ABCC8
7glutamate438.6ABCC8, PKD1, NFKBIA
8glucose438.4ABCC8, NFKBIA, HMBS
9serine438.2HMBS, NFKBIA, PKD1, ABCC8

GO Terms for genes affiliated with Autosomal Dominant Disease

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

idNameGO IDScoreTop Affiliating Genes
1digestive tract developmentGO:00485659.2ALX4, PKD1
2cytoplasmic sequestering of transcription factorGO:00429949.0NFKBIA, PKD1
3positive regulation of transcription from RNA polymerase II promoterGO:00459448.7NFKBIA, ALX4, PKD1

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.3PKD1, ABCC8

Products for genes affiliated with Autosomal Dominant Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Autosomal Dominant Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet