Mitochondrial complex I deficiency, nuclear type 4

Preferred Label : Mitochondrial complex I deficiency, nuclear type 4;

Symbol : MC1DN4;

CISMeF acronym : MC1DN4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase flavoprotein 1 gene (NDUFV1, 161015.0001);

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

Prefixed ID : #618225;

Details

Origin ID

618225;

UMLS CUI

C4748753;

Genes related to phenotype
- Nadh-ubiquinone oxidoreductase flavoprotein 1 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Developmental regression [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Myoclonus [HPO term]
- Ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Vomiting [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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