CMD1GG
MCID: CRD082
MIFTS: 17

Cardiomyopathy, Dilated, 1gg (CMD1GG)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1gg

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1gg:

Name: Cardiomyopathy, Dilated, 1gg 58 13 74
Dilated Cardiomyopathy 1gg 12 30 6
Cmd1gg 58 12 76
Cardiomyopathy, Dilated, Type 1gg 41
Cardiomyopathy, Dilated 1gg 76

Characteristics:

HPO:

33
cardiomyopathy, dilated, 1gg:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110435
OMIM 58 613642
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C3150898
SNOMED-CT via HPO 70 195021004 258211005 399020009
UMLS 74 C3150898

Summaries for Cardiomyopathy, Dilated, 1gg

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Cardiomyopathy, Dilated, 1gg:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644

Clinical features from OMIM:

613642

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 30 SDHA

Anatomical Context for Cardiomyopathy, Dilated, 1gg

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1gg

Variations for Cardiomyopathy, Dilated, 1gg

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

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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