CMD1GG
MCID: CRD082
MIFTS: 19

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

Articles related to Cardiomyopathy, Dilated, 1gg:

# Title Authors Year
1
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. ( 20551992 )
2010
2
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. ( 16798039 )
2006
3
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. ( 12794685 )
2003
4
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. ( 10746566 )
2000
5
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. ( 7550341 )
1995

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 (show all 42)
# 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.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh37 Chromosome 5, 223624: 223624
4 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh38 Chromosome 5, 223509: 223509
5 SDHA NM_004168.3(SDHA): c.1753C> T (p.Arg585Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200397144 GRCh38 Chromosome 5, 251427: 251427
6 SDHA NM_004168.3(SDHA): c.1753C> T (p.Arg585Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200397144 GRCh37 Chromosome 5, 251542: 251542
7 SDHA NM_004168.3(SDHA): c.704T> C (p.Ile235Thr) single nucleotide variant Uncertain significance rs144513891 GRCh37 Chromosome 5, 228382: 228382
8 SDHA NM_004168.3(SDHA): c.704T> C (p.Ile235Thr) single nucleotide variant Uncertain significance rs144513891 GRCh38 Chromosome 5, 228267: 228267
9 SDHA NM_004168.3(SDHA): c.739A> G (p.Ile247Val) single nucleotide variant Uncertain significance rs571292356 GRCh37 Chromosome 5, 228417: 228417
10 SDHA NM_004168.3(SDHA): c.739A> G (p.Ile247Val) single nucleotide variant Uncertain significance rs571292356 GRCh38 Chromosome 5, 228302: 228302
11 SDHA NM_004168.3(SDHA): c.1973C> T (p.Pro658Leu) single nucleotide variant Uncertain significance rs377632619 GRCh37 Chromosome 5, 256513: 256513
12 SDHA NM_004168.3(SDHA): c.1973C> T (p.Pro658Leu) single nucleotide variant Uncertain significance rs377632619 GRCh38 Chromosome 5, 256398: 256398
13 SDHA NM_004168.3(SDHA): c.92G> A (p.Arg31Gln) single nucleotide variant Uncertain significance rs752532780 GRCh38 Chromosome 5, 223510: 223510
14 SDHA NM_004168.3(SDHA): c.92G> A (p.Arg31Gln) single nucleotide variant Uncertain significance rs752532780 GRCh37 Chromosome 5, 223625: 223625
15 SDHA NM_004168.3(SDHA): c.694C> T (p.Arg232Cys) single nucleotide variant Uncertain significance rs878854635 GRCh38 Chromosome 5, 228257: 228257
16 SDHA NM_004168.3(SDHA): c.694C> T (p.Arg232Cys) single nucleotide variant Uncertain significance rs878854635 GRCh37 Chromosome 5, 228372: 228372
17 SDHA NM_004168.3(SDHA): c.155C> T (p.Ser52Phe) single nucleotide variant Uncertain significance rs377470390 GRCh38 Chromosome 5, 224364: 224364
18 SDHA NM_004168.3(SDHA): c.155C> T (p.Ser52Phe) single nucleotide variant Uncertain significance rs377470390 GRCh37 Chromosome 5, 224479: 224479
19 SDHA NM_004168.3(SDHA): c.1919A> G (p.Glu640Gly) single nucleotide variant Uncertain significance rs372480044 GRCh38 Chromosome 5, 256344: 256344
20 SDHA NM_004168.3(SDHA): c.1919A> G (p.Glu640Gly) single nucleotide variant Uncertain significance rs372480044 GRCh37 Chromosome 5, 256459: 256459
21 SDHA NM_004168.3(SDHA): c.991G> A (p.Ala331Thr) single nucleotide variant Uncertain significance rs200526913 GRCh38 Chromosome 5, 233572: 233572
22 SDHA NM_004168.3(SDHA): c.991G> A (p.Ala331Thr) single nucleotide variant Uncertain significance rs200526913 GRCh37 Chromosome 5, 233687: 233687
23 SDHA NM_004168.3(SDHA): c.1055G> A (p.Arg352Gln) single nucleotide variant Uncertain significance rs199844384 GRCh38 Chromosome 5, 233636: 233636
24 SDHA NM_004168.3(SDHA): c.1055G> A (p.Arg352Gln) single nucleotide variant Uncertain significance rs199844384 GRCh37 Chromosome 5, 233751: 233751
25 SDHA NM_004168.3(SDHA): c.613T> C (p.Tyr205His) single nucleotide variant Uncertain significance rs61754481 GRCh37 Chromosome 5, 226154: 226154
26 SDHA NM_004168.3(SDHA): c.613T> C (p.Tyr205His) single nucleotide variant Uncertain significance rs61754481 GRCh38 Chromosome 5, 226039: 226039
27 SDHA NM_004168.3(SDHA): c.955A> C (p.Ile319Leu) single nucleotide variant Uncertain significance rs377509915 GRCh37 Chromosome 5, 233651: 233651
28 SDHA NM_004168.3(SDHA): c.955A> C (p.Ile319Leu) single nucleotide variant Uncertain significance rs377509915 GRCh38 Chromosome 5, 233536: 233536
29 SDHA NM_004168.3(SDHA): c.812C> G (p.Thr271Ser) single nucleotide variant Uncertain significance rs765611464 GRCh37 Chromosome 5, 231032: 231032
30 SDHA NM_004168.3(SDHA): c.812C> G (p.Thr271Ser) single nucleotide variant Uncertain significance rs765611464 GRCh38 Chromosome 5, 230917: 230917
31 SDHA NM_004168.3(SDHA): c.685G> A (p.Gly229Arg) single nucleotide variant not provided rs41495051 GRCh38 Chromosome 5, 228248: 228248
32 SDHA NM_004168.3(SDHA): c.685G> A (p.Gly229Arg) single nucleotide variant not provided rs41495051 GRCh37 Chromosome 5, 228363: 228363
33 SDHA NM_004168.3(SDHA): c.1150T> G (p.Ser384Ala) single nucleotide variant Uncertain significance rs776888362 GRCh37 Chromosome 5, 235344: 235344
34 SDHA NM_004168.3(SDHA): c.1150T> G (p.Ser384Ala) single nucleotide variant Uncertain significance rs776888362 GRCh38 Chromosome 5, 235229: 235229
35 SDHA NM_004168.3(SDHA): c.994C> T (p.Pro332Ser) single nucleotide variant Uncertain significance rs373509391 GRCh37 Chromosome 5, 233690: 233690
36 SDHA NM_004168.3(SDHA): c.994C> T (p.Pro332Ser) single nucleotide variant Uncertain significance rs373509391 GRCh38 Chromosome 5, 233575: 233575
37 SDHA NM_004168.3(SDHA): c.445G> A (p.Ala149Thr) single nucleotide variant Uncertain significance rs575617625 GRCh37 Chromosome 5, 225666: 225666
38 SDHA NM_004168.3(SDHA): c.445G> A (p.Ala149Thr) single nucleotide variant Uncertain significance rs575617625 GRCh38 Chromosome 5, 225551: 225551
39 SDHA NM_004168.3(SDHA): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance rs542980860 GRCh38 Chromosome 5, 225554: 225554
40 SDHA NM_004168.3(SDHA): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance rs542980860 GRCh37 Chromosome 5, 225669: 225669
41 SDHA NM_004168.3(SDHA): c.902A> G (p.Tyr301Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 233598: 233598
42 SDHA NM_004168.3(SDHA): c.902A> G (p.Tyr301Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 233483: 233483

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

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