Mitochondrial complex I deficiency, nuclear type 9

Preferred Label : Mitochondrial complex I deficiency, nuclear type 9;

Symbol : MC1DN9;

CISMeF acronym : MC1DN9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase subunit S6 gene (NDUFS6, 603848.0001);

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

Prefixed ID : #618232;

Details

Origin ID

618232;

UMLS CUI

C4748767;

Genes related to phenotype
- Nadh-ubiquinone oxidoreductase fe-s protein 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Breathing dysregulation [HPO term]
- Encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Hypoventilation [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
ORDO concept(s)
- Isolated complex I deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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