Details of Disease

General Information of Disease (ID: DIS1WWEQ)

Disease Name Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Synonyms
MTDPS14; mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type); OPA1 mitochondrial DNA depletion syndrome; mitochondrial DNA depletion syndrome caused by mutation in OPA1; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Definition Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.
Disease Hierarchy
DISIGZSM: Mitochondrial DNA depletion syndrome
DIS1WWEQ: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Disease Identifiers
MONDO ID
MONDO_0014820
UMLS CUI
C4225163
OMIM ID
616896
MedGen ID
903789

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
OPA1 TTTU49Q Strong Autosomal recessive [1]
OPA1 TTTU49Q Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OPA1 OTJGNWPW Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11.