Details of Disease

General Information of Disease (ID: DISBLB7M)

Disease Name Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Synonyms MTDPS15; TFAM mitochondrial DNA depletion syndrome; mitochondrial DNA depletion syndrome caused by mutation in TFAM; mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Definition Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.
Disease Hierarchy
DISIGZSM: Mitochondrial DNA depletion syndrome
DISBLB7M: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Disease Identifiers
MONDO ID
MONDO_0014943
UMLS CUI
C4310690
OMIM ID
617156
MedGen ID
934657

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TFAM OTXXV5V7 Limited 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.