Mitochondrial complex III deficiency, nuclear type 3

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

Symbol : MC3DN3;

CISMeF acronym : MC3DN3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquinol-cytochrome c reductase-protein gene (UQCRB, 191330.0001).;

Laboratory abnormalities : Increased serum lactate during metabolic crisis; Decreased mitochondrial complex III activity in liver and fibroblasts; Hypoglycemia;

Prefixed ID : #615158;

Details

Origin ID

615158;

UMLS CUI

C3554606;

Currated CISMeF NLP mapping
- mitochondrial complex III deficiency nuclear type 3 [DO Concept]
DO Cross reference
- mitochondrial complex III deficiency nuclear type 3 [DO Concept]
Genes related to phenotype
- Ubiquinol-cytochrome C reductase-binding protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hepatomegaly [HPO term]
- Hypoglycemia [HPO term]
- Increased serum lactate [HPO term]
- Metabolic acidosis [HPO term]
Not associated HPO term(s)
- Neurodevelopmental abnormality [HPO term]
ORDO concept(s)
- Isolated complex III deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mitochondrial complex III deficiency nuclear type 3 [DO Concept]

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