MCID: ATS008
MIFTS: 28

Autosomal Dominant Disease malady

Genetic diseases (common) category
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Summaries for Autosomal Dominant Disease

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Disease Ontology:8 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.

Wikipedia:65 Dominance in genetics is a relationship between alleles of one gene, in which one allele is expressed... more...

Aliases & Classifications for Autosomal Dominant Disease

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Autosomal Dominant Disease, Aliases & Descriptions:

Name: Autosomal Dominant Disease 8 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

Disease Ontology8 DOID:0050736

Related Diseases for Autosomal Dominant Disease

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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:

36
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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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Disease

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/GeneDecks:

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

Compounds for genes affiliated with Autosomal Dominant Disease

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Sources:
44Novoseek, 28IUPHAR, 61Tocris Bioscience, 24HMDB, 11DrugBank
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Compounds related to Autosomal Dominant Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1salicylic acid44 2810.2NFKBIA, ABCC8
2phenylalanine449.0NFKBIA, ABCC8
3chloride449.0PKD1, ABCC8
4atp44 289.8HMBS, PKD1, ABCC8
5testosterone44 61 24 1111.7ABCC8, PKD1, NFKBIA
6arginine448.6HMBS, NFKBIA, ABCC8
7glutamate448.6ABCC8, PKD1, NFKBIA
8glucose448.4ABCC8, NFKBIA, HMBS
9serine448.2HMBS, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1digestive tract developmentGO:0485659.2ALX4, PKD1
2cytoplasmic sequestering of transcription factorGO:0429949.0NFKBIA, PKD1
3positive regulation of transcription from RNA polymerase II promoterGO:0459448.7NFKBIA, ALX4, PKD1

Molecular functions related to Autosomal Dominant Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.3PKD1, ABCC8

Products for genes affiliated with Autosomal Dominant Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for Autosomal Dominant Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet