Details of Disease | DrugMAP

General Information of Disease (ID: DISGOCEA)

Disease Name	Mitochondrial complex 2 deficiency, nuclear type 4
Synonyms	mitochondrial complex II deficiency, nuclear type 4; mitochondrial complex 2 deficiency, nuclear type 4; MC2DN4
Disease Hierarchy	DISDSOUD: Mitochondrial complex II deficiency, nuclear type DISGOCEA: Mitochondrial complex 2 deficiency, nuclear type 4
Disease Identifiers	MONDO ID MONDO_0030974 UMLS CUI C5543176 OMIM ID 619224 MedGen ID 1782861

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
SDHB	OTRE1M1T	Strong	Autosomal recessive	[1]
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References

1	Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet. 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.