Mitochondrial complex I deficiency, nuclear type 5

Preferred Label : Mitochondrial complex I deficiency, nuclear type 5;

Symbol : MC1DN5;

CISMeF acronym : MC1DN5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase core subunit S1 gene (NDUFS1, 157655.0001);

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

Prefixed ID : #618226;

Details

Origin ID

618226;

UMLS CUI

C4748754;

Genes related to phenotype
- Nadh-ubiquinone oxidoreductase fe-s protein 1 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Brain atrophy [HPO term]
- Cerebellar atrophy [HPO term]
- Developmental regression [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Irritability [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Leukodystrophy [HPO term]
- Leukoencephalopathy [HPO term]
- Nystagmus [HPO term]
- Ophthalmoplegia [HPO term]
- Optic atrophy [HPO term]
- Poor speech [HPO term]
- Progressive [HPO term]
- Progressive microcephaly [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency [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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