Combined oxidative phosphorylation deficiency 5

Preferred Label : Combined oxidative phosphorylation deficiency 5;

Symbol : COXPD5;

CISMeF acronym : COXPD5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial ribosomal protein S22 gene (MRPS22, 605810.0001);

Laboratory abnormalities : Increased serum lactate; Increased serum ammonia; Skeletal muscle shows decreased activities of mitochondrial respiratory complexes I, III, IV, and V;

Prefixed ID : #611719;

Details

Origin ID

611719;

UMLS CUI

C2673642;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 5 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency type 5 [ICD-11 More detail]
- Hypotonia with lactic acidemia and hyperammonemia [ORDO Disease]
- combined oxidative phosphorylation deficiency 5 [DO Concept]
- combined oxidative phosphorylation deficiency 5 [MeSH concept]
- combined oxidative phosphorylation deficiency 5 [MeSH Supplementary Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 5 [DO Concept]
Genes related to phenotype
- Mitochondrial ribosomal protein s22 [OMIM gene]
HPO term(s)
- Abnormal renal tubule morphology [HPO term]
- Abnormality of the amniotic fluid [HPO term]
- Antenatal onset [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Delayed myelination [HPO term]
- Edema [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Leukoencephalopathy [HPO term]
- Low-set ears [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Posteriorly rotated ears [HPO term]
- Psychomotor retardation [HPO term]
- Redundant neck skin [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- metabolic acidosis, severe [HPO term]
ORDO concept(s)
- Hypotonia with lactic acidemia and hyperammonemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 5 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency type 5 [ICD-11 More detail]
- Hypotonia with lactic acidemia and hyperammonemia [ORDO Disease]
- combined oxidative phosphorylation deficiency 5 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 5 [MeSH concept]

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