Details of Disease | DrugMAP

General Information of Disease (ID: DISTR4JU)

Disease Name	Mitochondrial complex 4 deficiency, nuclear type 19
Synonyms	MC4DN19; mitochondrial complex IV deficiency, nuclear type 19
Disease Hierarchy	DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type DISTR4JU: Mitochondrial complex 4 deficiency, nuclear type 19
Disease Identifiers	MONDO ID MONDO_0033654 UMLS CUI C5436723 OMIM ID 619063 MedGen ID 1729504

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
PET117	OT76T8O0	Limited	Unknown	[1]
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References

1	Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. Hum Genet. 2017 Jun;136(6):759-769. doi: 10.1007/s00439-017-1794-7. Epub 2017 Apr 6.