Combined oxidative phosphorylation deficiency 2

Preferred Label : Combined oxidative phosphorylation deficiency 2;

Symbol : COXPD2;

CISMeF acronym : COXPD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial ribosomal protein S16 (MRPS16, 609204.0001);

Laboratory abnormalities : Increased serum lactate; Abnormal liver function tests; Decreased activity of mitochondrial respiratory complexes I, II III, IV, and V; Normal complex II activity;

Prefixed ID : #610498;

Details

Origin ID

610498;

UMLS CUI

C1864843;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 2 [ORDO Disease]
- Combined oxidative phosphorylation defect type 2 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency type 2 [ICD-11 More detail]
- combined oxidative phosphorylation deficiency 2 [DO Concept]
- combined oxidative phosphorylation deficiency 2 [MeSH concept]
- combined oxidative phosphorylation deficiency 2 [MeSH Supplementary Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 2 [DO Concept]
Genes related to phenotype
- Mitochondrial ribosomal protein s16: mrps16 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal liver function tests [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Congenital onset [HPO term]
- Decreased spontaneous movements [HPO term]
- Edema [HPO term]
- Elevated hepatic transaminase [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Heterogeneous [HPO term]
- Hypokinesia [HPO term]
- Increased serum lactate [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Low-set ears [HPO term]
- Neonatal hypotonia [HPO term]
- Patent ductus arteriosus [HPO term]
- Redundant neck skin [HPO term]
- Redundant skin over the neck [HPO term]
- Small for gestational age [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 2 [ORDO Disease]
- Combined oxidative phosphorylation defect type 2 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency type 2 [ICD-11 More detail]
- combined oxidative phosphorylation deficiency 2 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 2 [MeSH concept]

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