Mitochondrial complex I deficiency, nuclear type 7

Preferred Label : Mitochondrial complex I deficiency, nuclear type 7;

Symbol : MC1DN7;

CISMeF acronym : MC1DN7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase flavoprotein 2 gene (NDUFV2, 600532.0002);

Laboratory abnormalities : Mitochondrial respiratory complex I deficiency in various tissues; Increased lactate:pyruvate ratio;

Prefixed ID : #618229;

Details

Origin ID

618229;

UMLS CUI

C4748760;

Genes related to phenotype
- Nadh-ubiquinone oxidoreductase flavoprotein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Developmental regression [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Isolated complex I deficiency [ORDO Disease]
- Leigh syndrome with leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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