MCID: CRD082
MIFTS: 17

Cardiomyopathy, Dilated, 1gg

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1gg

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1gg:

Name: Cardiomyopathy, Dilated, 1gg 57 13 73
Dilated Cardiomyopathy 1gg 12 29 6
Cmd1gg 57 12 75
Cardiomyopathy, Dilated, Type 1gg 40
Cardiomyopathy, Dilated 1gg 75

Characteristics:

HPO:

32
cardiomyopathy, dilated, 1gg:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613642
Disease Ontology 12 DOID:0110435
ICD10 33 I42.0
MedGen 42 C3150898
MeSH 44 D002311
SNOMED-CT via HPO 69 258211005 195021004 399020009
UMLS 73 C3150898

Summaries for Cardiomyopathy, Dilated, 1gg

UniProtKB/Swiss-Prot : 75 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 dilated cardiomyopathy 1gg. An important gene associated with Cardiomyopathy, Dilated, 1gg is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A). Affiliated tissues include heart, and related phenotype is dilated cardiomyopathy.

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:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 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 29 SDHA

Anatomical Context for Cardiomyopathy, Dilated, 1gg

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1gg

Variations for Cardiomyopathy, Dilated, 1gg

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

75
# 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
2 SDHA NM_004168.3(SDHA): c.1664G> A (p.Gly555Glu) single nucleotide variant Pathogenic rs137852768 GRCh38 Chromosome 5, 251338: 251338
3 SDHA NM_004168.3(SDHA): c.685G> A (p.Gly229Arg) single nucleotide variant not provided rs41495051 GRCh38 Chromosome 5, 228248: 228248
4 SDHA NM_004168.3(SDHA): c.685G> A (p.Gly229Arg) single nucleotide variant not provided rs41495051 GRCh37 Chromosome 5, 228363: 228363

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
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
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