MCID: CRD082
MIFTS: 30

Cardiomyopathy, Dilated, 1gg malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1gg

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1gg:

Name: Cardiomyopathy, Dilated, 1gg 50 12
Cardiomyopathy, Dilated 1gg 68 25
 
Cmd1gg 68

Characteristics:

HPO:

62
cardiomyopathy, dilated, 1gg:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 613642
MedGen35 C3150898
MeSH37 D002311

Summaries for Cardiomyopathy, Dilated, 1gg

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UniProtKB/Swiss-Prot:68 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 dilated cardiomyopathy An important gene associated with Cardiomyopathy, Dilated, 1gg is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A), and among its related pathways are Alzheimer's disease and Carbon metabolism. Affiliated tissues include heart.

Description from OMIM:50 613642

Related Diseases for Cardiomyopathy, Dilated, 1gg

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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 Dmd-Related Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines
Mypn-Related Cardiomyopathy Abcc9-Related Dilated Cardiomyopathy
Actc1-Related Dilated Cardiomyopathy Actn2-Related Dilated Cardiomyopathy
Ankrd1-Related Dilated Cardiomyopathy Bag3-Related Dilated Cardiomyopathy
Cryab-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-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 19)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1a10.0
2cowden syndrome 29.8SDHA, SDHB
3paragangliomas 59.8SDHA, SDHB
4albinism, oculocutaneous, type iv9.8SDHA, SDHB
5paragangliomas 49.8SDHA, SDHB
6neuroendocrine carcinoma of the cervix9.8SDHA, SDHB
7paraganglioma and gastric stromal sarcoma9.8SDHA, SDHB
8lung abscess9.8SDHA, SDHB
9mercaptolactate-cysteine disulfiduria9.8SDHA, SDHB
10large cell medulloblastoma9.7SDHA, SDHB
11hidrotic ectodermal dysplasia 29.7SDHA, SDHB
12steroid-induced glaucoma9.7SDHA, SDHB
13glycogen storage disease ib9.7SDHA, SDHB
14opitz-gbbb syndrome9.6SDHA, SDHB
15endocrine gland cancer9.6SDHA, SDHB
16tumor predisposition syndrome9.5SDHA, SDHB
17leigh syndrome9.5SDHA, SDHB
18gastrointestinal stromal tumor9.4SDHA, SDHB
19pheochromocytoma9.2SDHA, SDHB

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



Diseases related to cardiomyopathy, dilated, 1gg

Symptoms for Cardiomyopathy, Dilated, 1gg

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Clinical features from OMIM:

613642

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

id Description Frequency HPO Source Accession
1 dilated cardiomyopathy HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1gg

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Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1gg

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Genetic tests related to Cardiomyopathy, Dilated, 1gg:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1gg25

Anatomical Context for Cardiomyopathy, Dilated, 1gg

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

34
Heart

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

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Publications for Cardiomyopathy, Dilated, 1gg

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Variations for Cardiomyopathy, Dilated, 1gg

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

68
id Symbol AA change Variation ID SNP ID
1SDHAp.Gly555GluVAR_016879rs137852768

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

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1gg

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

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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:00057499.7SDHA, SDHB
2mitochondrial inner membraneGO:00057439.1SDHA, SDHB

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

idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:00061059.3SDHA, SDHB
2respiratory electron transport chainGO:00229049.3SDHA, SDHB
3tricarboxylic acid cycleGO:00060999.1SDHA, SDHB

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:00081779.1SDHA, SDHB

Sources for Cardiomyopathy, Dilated, 1gg

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet