Mitochondrial complex I deficiency, nuclear type 28

Preferred Label : Mitochondrial complex I deficiency, nuclear type 28;

Symbol : MC1DN28;

CISMeF acronym : MC1DN28;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase subunit A1 gene (NDUFA13, 609435.0002);

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

Prefixed ID : #618249;

Details

Origin ID

618249;

UMLS CUI

C4748827;

Genes related to phenotype
- Nadh-ubiquinone oxidoreductase subunit a13 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Abnormality of eye movement [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Dyskinesia [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hyperalaninemia [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Lower limb spasticity [HPO term]
- Optic atrophy [HPO term]
- Optic neuropathy [HPO term]
- Poor eye contact [HPO term]
- Poor head control [HPO term]
- Poor speech [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Leigh syndrome with leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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