Mitochondrial complex I deficiency, nuclear type 3

Preferred Label : Mitochondrial complex I deficiency, nuclear type 3;

Symbol : MC1DN3;

CISMeF acronym : MC1DN3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase core subunit S7 gene (NDUFS7, 601825.0001);

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

Prefixed ID : #618224;

Details

Origin ID

618224;

UMLS CUI

C4748752;

Genes related to phenotype
- Nadh-ubiquinone oxidoreductase fe-s protein 7 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hyperreflexia [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Progressive [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [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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