Mitochondrial complex I deficiency, nuclear type 2

Preferred Label : Mitochondrial complex I deficiency, nuclear type 2;

Symbol : MC1DN2;

CISMeF acronym : MC1DN2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase core subunit S8 gene (NDUFS8, 602141.0001);

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

Prefixed ID : #618222;

Details

Origin ID

618222;

UMLS CUI

C4748737;

Genes related to phenotype
- Nadh-ubiquinone oxidoreductase fe-s protein 8 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Difficulty walking [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Nystagmus [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Variable expressivity [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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