MCID: CRD082
MIFTS: 17

Cardiomyopathy, Dilated, 1gg

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1gg

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1gg:

Name: Cardiomyopathy, Dilated, 1gg 53 13 69
Cmd1gg 53 12 71
Dilated Cardiomyopathy 1gg 12 28
Cardiomyopathy, Dilated 1gg 71

Characteristics:

HPO:

31
cardiomyopathy, dilated, 1gg:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613642
Disease Ontology 12 DOID:0110435
ICD10 32 I42.0
MedGen 39 C3150898
MeSH 41 D002311
SNOMED-CT via HPO 65 258211005 195021004 399020009
UMLS 69 C3150898

Summaries for Cardiomyopathy, Dilated, 1gg

UniProtKB/Swiss-Prot : 71 Cardiomyopathy, dilated 1GG: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1gg, is also known as cmd1gg, and has symptoms including dilated cardiomyopathy An important gene associated with Cardiomyopathy, Dilated, 1gg is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A). Affiliated tissues include heart.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the SDHA gene on chromosome 5p15.33.

Description from OMIM: 613642

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1gg

Clinical features from OMIM:

613642

Human phenotypes related to Cardiomyopathy, Dilated, 1gg:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1gg

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1gg

Genetic Tests for Cardiomyopathy, Dilated, 1gg

Genetic tests related to Cardiomyopathy, Dilated, 1gg:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1gg 28 SDHA

Anatomical Context for Cardiomyopathy, Dilated, 1gg

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1gg:

38
Heart

Publications for Cardiomyopathy, Dilated, 1gg

Variations for Cardiomyopathy, Dilated, 1gg

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1gg:

71
# Symbol AA change Variation ID SNP ID
1 SDHA p.Gly555Glu VAR_016879 rs137852768

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1gg:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHA NM_004168.3(SDHA): c.1664G> A (p.Gly555Glu) single nucleotide variant Pathogenic rs137852768 GRCh37 Chromosome 5, 251453: 251453

Expression for Cardiomyopathy, Dilated, 1gg

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1gg.

Pathways for Cardiomyopathy, Dilated, 1gg

GO Terms for Cardiomyopathy, Dilated, 1gg

Sources for Cardiomyopathy, Dilated, 1gg

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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