Combined oxidative phosphorylation deficiency 40

Preferred Label : Combined oxidative phosphorylation deficiency 40;

Symbol : COXPD40;

CISMeF acronym : COXPD40;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like protein 1 gene (QRSL1, 617209.0001);

Laboratory abnormalities : Increased serum alanine; Mitochondrial respiratory enzyme deficiency, combined, I, III, IV, V, in various tissues; Increased serum glutamine; Ketonuria; Urinary excretion of lactate, pyruvate, and Krebs cycle intermediates; Increased serum creatine kinase;

Prefixed ID : #618835;

Details

Origin ID

618835;

UMLS CUI

C5394232;

Currated CISMeF NLP mapping
- Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) [SNOMED CT concept]
- QRSL1-related combined oxidative phosphorylation defect [ORDO Disease]
- combined oxidative phosphorylation deficiency 40 [DO Concept]
Genes related to phenotype
- Glutaminyl-trna amidotransferase subunit qrsl1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Decreased activity of mitochondrial complex I [HPO term]
- Decreased activity of mitochondrial complex III [HPO term]
- Decreased activity of mitochondrial complex IV [HPO term]
- Decreased circulating cortisol level [HPO term]
- Decreased liver function [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hearing impairment [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoglycemia [HPO term]
- Intrauterine growth retardation [HPO term]
- Lactic acidosis [HPO term]
- Neonatal death [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Premature birth [HPO term]
ORDO concept(s)
- QRSL1-related combined oxidative phosphorylation defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) [SNOMED CT concept]

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