Details of Disease | DrugMAP

General Information of Disease (ID: DISTXS4G)

Disease Name	Mitochondrial complex III deficiency nuclear type 1
Synonyms	mitochondrial complex III deficiency, nuclear type 1; mitochondrial Complex 3 deficiency, nuclear type 1; Complex 3 mitochondrial respiratory chain deficiency; MC3DN1; mitochondrial complex III deficiency; mitochondrial complex III deficiency caused by mutation in BCS1L; BCS1L mitochondrial complex III deficiency
Definition	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.
Disease Hierarchy	DISNWMK9: Mitochondrial complex III deficiency, nuclear type DISSUPJ6: Mitochondrial complex III deficiency DISTXS4G: Mitochondrial complex III deficiency nuclear type 1
Disease Identifiers	MONDO ID MONDO_0007415 UMLS CUI C3541471 OMIM ID 124000 MedGen ID 762097

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCS1L	OT5PY5CY	Strong	Autosomal recessive	[1]
TTC19	OTQ0QH1P	Definitive	Autosomal recessive	[2]
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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	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.