MCID: MTC194
MIFTS: 6

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 58
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.

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. 6
12560876 2003
2
A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy. 6
11038324 2000

Variations for Mitochondrial Disease with Hypertrophic Cardiomyopathy

ClinVar genetic disease variations for Mitochondrial Disease with Hypertrophic Cardiomyopathy:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TH m.12192G>ASNV Benign 9608 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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