MCID: MTC194
MIFTS: 7

Mitochondrial Disease with Hypertrophic Cardiomyopathy

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Mitochondrial Disease with Hypertrophic Cardiomyopathy

MalaCards integrated aliases for Mitochondrial Disease with Hypertrophic Cardiomyopathy:

Name: Mitochondrial Disease with Hypertrophic Cardiomyopathy 59
Cardiomyopathy, Hypertrophic, Mitochondrial 6

Classifications:



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Summaries for Mitochondrial Disease with Hypertrophic Cardiomyopathy

MalaCards based summary : Mitochondrial Disease with Hypertrophic Cardiomyopathy, also known as cardiomyopathy, hypertrophic, mitochondrial, is related to combined oxidative phosphorylation deficiency 8. An important gene associated with Mitochondrial Disease with Hypertrophic Cardiomyopathy is MT-TH (Mitochondrially Encoded TRNA-His (CAU/C)).

Related Diseases for Mitochondrial Disease with Hypertrophic Cardiomyopathy

Diseases related to Mitochondrial Disease with Hypertrophic Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 8 11.6

Symptoms & Phenotypes for Mitochondrial Disease with Hypertrophic Cardiomyopathy

Drugs & Therapeutics for Mitochondrial Disease with Hypertrophic Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Mitochondrial Disease with Hypertrophic Cardiomyopathy

Genetic Tests for Mitochondrial Disease with Hypertrophic Cardiomyopathy

Anatomical Context for Mitochondrial Disease with Hypertrophic Cardiomyopathy

Publications for Mitochondrial Disease with Hypertrophic Cardiomyopathy

Articles related to Mitochondrial Disease with Hypertrophic Cardiomyopathy:

# Title Authors PMID Year
1
A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy. 71
12560876 2003
2
A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy. 71
11038324 2000

Variations for Mitochondrial Disease with Hypertrophic Cardiomyopathy

ClinVar genetic disease variations for Mitochondrial Disease with Hypertrophic Cardiomyopathy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MT-TH m.12192G> A single nucleotide variant Pathogenic rs3134560 MT:12192-12192 MT:12192-12192

Expression for Mitochondrial Disease with Hypertrophic Cardiomyopathy

Search GEO for disease gene expression data for Mitochondrial Disease with Hypertrophic Cardiomyopathy.

Pathways for Mitochondrial Disease with Hypertrophic Cardiomyopathy

GO Terms for Mitochondrial Disease with Hypertrophic Cardiomyopathy

Sources for Mitochondrial Disease with Hypertrophic Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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