Mitochondrial complex I deficiency, nuclear type 6

Preferred Label : Mitochondrial complex I deficiency, nuclear type 6;

Symbol : MC1DN6;

CISMeF acronym : MC1DN6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase core subunit S2 gene (NDUFS2, 602985.0001);

Laboratory abnormalities : Increased serum and CSF lactate Mitochondrial respiratory complex I deficiency in various tissues;

Prefixed ID : #618228;

Details

Origin ID

618228;

UMLS CUI

C4748759;

Genes related to phenotype
- Nadh-ubiquinone oxidoreductase fe-s protein 2 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Developmental regression [HPO term]
- Failure to thrive [HPO term]
- Hyperreflexia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Respiratory insufficiency [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Isolated complex I deficiency [ORDO Disease]
- Leigh syndrome with cardiomyopathy [ORDO Disease]
- Leigh syndrome with leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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