Mitochondrial complex iv deficiency, nuclear type 2

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

Symbol : MC4DN2;

CISMeF acronym : CEMCOX1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy; Cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency 1; CEMCOX1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae SCO2 gene (SCO2, 604272.0001);

Laboratory abnormalities : Increased serum lactate; Increased CSF lactate;

Prefixed ID : #604377;

Details

Origin ID

604377;

UMLS CUI

C5399977;

Currated CISMeF NLP mapping
- fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 [DO Concept]
DO Cross reference
- fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 [DO Concept]
Genes related to phenotype
- Sco cytochrome C oxidase assembly protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Basal ganglia gliosis [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Lactic acidosis [HPO term]
- Limited extraocular movements [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in basal ganglia [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Respiratory distress [HPO term]
ORDO concept(s)
- Fatal infantile cytochrome C oxidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fatal infantile cytochrome C oxidase deficiency [ORDO Disease]
- cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency [MeSH Supplementary Concept]
- cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency [MeSH concept]
Validated automatic mappings to NTBT
- Fatal infantile cytochrome C oxidase deficiency [ORDO Disease]
- Fatal infantile cytochrome C oxidase deficiency (disorder) [SNOMED CT concept]
- cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency [MeSH Supplementary Concept]
- cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency [MeSH concept]
- fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency [DO Concept]

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