Details of Disease | DrugMAP

General Information of Disease (ID: DIS4IB4B)

Disease Name	FASTKD2-related infantile mitochondrial encephalomyopathy
Disease Hierarchy	DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS4IB4B: FASTKD2-related infantile mitochondrial encephalomyopathy
Disease Identifiers	MONDO ID MONDO_0015632 UMLS CUI C4755278 MedGen ID 1665220 Orphanet ID 166105 SNOMED CT ID 778029000

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
FASTKD2	OTD635WX	Supportive	Autosomal recessive	[1]
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References

1	FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4.