MCID: CRD082
MIFTS: 30

Cardiomyopathy, Dilated, 1gg malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases categories

Aliases & Classifications for Cardiomyopathy, Dilated, 1gg

About this section

Aliases & Descriptions for Cardiomyopathy, Dilated, 1gg:

Name: Cardiomyopathy, Dilated, 1gg 49 11 24
Cardiomyopathy, Dilated 1gg 67
 
Cmd1gg 67


Classifications:



External Ids:

OMIM49 613642
MedGen34 C3150898
MeSH36 D002311

Summaries for Cardiomyopathy, Dilated, 1gg

About this section
UniProtKB/Swiss-Prot:67 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, also known as cardiomyopathy, dilated 1gg, is related to cardiomyopathy, dilated, 1a and cowden syndrome 2, and has symptoms including autosomal recessive inheritanceand dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1gg is SDHA (Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp)), and among its related pathways are Carbon metabolism and Alzheimers disease. Affiliated tissues include heart.

Description from OMIM:49 613642

Related Diseases for Cardiomyopathy, Dilated, 1gg

About this section

Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
cardiomyopathy, dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Psen1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Scn5a-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

Diseases related to Cardiomyopathy, Dilated, 1gg via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1a10.1
2cowden syndrome 29.9SDHA, SDHB
3cardiomyopathy, dilated, 1gg9.9SDHA, SDHB
4rothmund-thomson syndrome type 29.9SDHA, SDHB
5paragangliomas 59.9SDHA, SDHB
6paragangliomas 49.9SDHA, SDHB
7neuroaxonal dystrophy renal tubular acidosis9.9SDHA, SDHB
8verruciform xanthoma of skin9.9SDHA, SDHB
9paraganglioma and gastric stromal sarcoma9.9SDHA, SDHB
10lung abscess9.9SDHA, SDHB
11seminoma9.9SDHA, SDHB
12carnitine palmitoyltransferase i deficiency , muscle9.9SDHA, SDHB
13mitochondrial complex ii deficiency9.9SDHA, SDHB
14heritable pulmonary arterial hypertension9.9SDHA, SDHB
15primary progressive multiple sclerosis9.9SDHA, SDHB
16endocrine organ benign neoplasm9.8SDHA, SDHB
17gastrointestinal system disease9.8SDHA, SDHB
18leigh syndrome9.8SDHA, SDHB
19gastrointestinal stromal tumor9.8SDHA, SDHB
20pheochromocytoma9.7SDHA, SDHB

Graphical network of diseases related to Cardiomyopathy, Dilated, 1gg:



Diseases related to cardiomyopathy, dilated, 1gg

Symptoms for Cardiomyopathy, Dilated, 1gg

About this section


Clinical features from OMIM:

613642

HPO human phenotypes related to Cardiomyopathy, Dilated, 1gg:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 dilated cardiomyopathy HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1gg

About this section

Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1gg

About this section

Genetic tests related to Cardiomyopathy, Dilated, 1gg:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1gg24

Anatomical Context for Cardiomyopathy, Dilated, 1gg

About this section

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

33
Heart

Animal Models for Cardiomyopathy, Dilated, 1gg or affiliated genes

About this section

Publications for Cardiomyopathy, Dilated, 1gg

About this section

Variations for Cardiomyopathy, Dilated, 1gg

About this section

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

67
id Symbol AA change Variation ID SNP ID
1SDHAp.Gly555GluVAR_016879

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1SDHANM_004168.3(SDHA): c.1664G> A (p.Gly555Glu)single nucleotide variantPathogenicrs137852768GRCh37Chr 5, 251453: 251453

Expression for genes affiliated with Cardiomyopathy, Dilated, 1gg

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1gg

About this section

GO Terms for genes affiliated with Cardiomyopathy, Dilated, 1gg

About this section

Cellular components related to Cardiomyopathy, Dilated, 1gg according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057499.6SDHA, SDHB
2mitochondrial inner membraneGO:00057439.1SDHA, SDHB

Biological processes related to Cardiomyopathy, Dilated, 1gg according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:00060999.7SDHA, SDHB
2succinate metabolic processGO:00061059.7SDHA, SDHB
3respiratory electron transport chainGO:00229049.4SDHA, SDHB
4cellular metabolic processGO:00442379.4SDHA, SDHB
5oxidation-reduction processGO:00551149.1SDHA, SDHB

Molecular functions related to Cardiomyopathy, Dilated, 1gg according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:00081779.6SDHA, SDHB
2oxidoreductase activityGO:00164919.1SDHA, SDHB

Sources for Cardiomyopathy, Dilated, 1gg

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet