General Information of Disease (ID: DIS0RXHE)

Disease Name Mitochondrial complex 1 deficiency, nuclear type 9
Synonyms MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9; MC1DN9
Disease Hierarchy
DISTGV31: Mitochondrial complex I deficiency, nuclear type
DIS0RXHE: Mitochondrial complex 1 deficiency, nuclear type 9
Disease Identifiers
MONDO ID
MONDO_0032615
UMLS CUI
C4748767
OMIM ID
618232
MedGen ID
1648447

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
NDUFS6 OT9IOONQ Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Comparison of free amino acid pools in dental plaque fluid from monkeys (Macaca fascicularis) fed on high and low sugar diets. Arch Oral Biol. 1978;23(11):989-92. doi: 10.1016/0003-9969(78)90254-6.