Mitochondrial complex III deficiency, nuclear type 5

Preferred Label : Mitochondrial complex III deficiency, nuclear type 5;

Symbol : MC3DN5;

CISMeF acronym : MC3DN5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquinol-cytochrome c reductase core protein II gene (UQCRC2, 191329.0001);

Laboratory abnormalities : Increased serum pyruvate; Hyperammonemia; Hypoglycemia; Decreased mitochondrial complex III levels and activity in fibroblasts; Increased serum lactate;

Prefixed ID : #615160;

Details

Origin ID

615160;

UMLS CUI

C3554608;

Currated CISMeF NLP mapping
- mitochondrial complex III deficiency nuclear type 5 [DO Concept]
DO Cross reference
- mitochondrial complex III deficiency nuclear type 5 [DO Concept]
Genes related to phenotype
- Ubiquinol-cytochrome C reductase core protein II [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased liver function [HPO term]
- Elevated circulating fumarate concentration [HPO term]
- Elevated circulating sebacic acid concentration [HPO term]
- Elevated circulating suberic acid concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Episodic tachypnea [HPO term]
- Episodic vomiting [HPO term]
- Global developmental delay [HPO term]
- Hyperalaninemia [HPO term]
- Hyperammonemia [HPO term]
- Hypoglycemia [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Poor suck [HPO term]
- Small for gestational age [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 5 [DO Concept]

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