Mitochondrial complex iv deficiency, nuclear type 4

Preferred Label : Mitochondrial complex iv deficiency, nuclear type 4;

Symbol : MC4DN4;

Type : Phenotype, molecular basis known;

Prefixed ID : #619048;

Details

Origin ID

619048;

UMLS CUI

C5436683;

Genes related to phenotype
- Synthesis of cytochrome C oxidase 1 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Brain atrophy [HPO term]
- Congestive heart failure [HPO term]
- Decreased plasma free carnitine [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperalaninemia [HPO term]
- Hypoglycemia [HPO term]
- Increased serum lactate [HPO term]
- Increased urine succinate level [HPO term]
- Intrauterine growth retardation [HPO term]
- Left ventricular hypertrophy [HPO term]
- Metabolic acidosis [HPO term]
- Ventricular hypertrophy [HPO term]
ORDO concept(s)
- Isolated cytochrome C oxidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Isolated cytochrome C oxidase deficiency [ORDO Disease]

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