Mitochondrial complex I deficiency, nuclear type 8

Preferred Label : Mitochondrial complex I deficiency, nuclear type 8;

Symbol : MC1DN8;

CISMeF acronym : MC1DN8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase core subunit S3 gene (NDUFS3, 603846.0001);

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

Prefixed ID : #618230;

Details

Origin ID

618230;

UMLS CUI

C4748766;

Genes related to phenotype
- Nadh-ubiquinone oxidoreductase fe-s protein 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Kyphoscoliosis [HPO term]
- Lactic acidosis [HPO term]
- Pancreatitis [HPO term]
- Respiratory insufficiency [HPO term]
- Tetraparesis [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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