Combined oxidative phosphorylation deficiency 17

Preferred Label : Combined oxidative phosphorylation deficiency 17;

Symbol : COXPD17;

CISMeF acronym : COXPD17;

Type : Phenotype, molecular basis known;

Description : Combined oxidative phosphorylation deficiency-17 is an autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the elaC ribonuclease Z 2 gene (ELAC2, 605367.0006);

Laboratory abnormalities : Increased urinary orotic acid (in some patients); Increased urinary organic acids (in some patients); Accumulation of unprocessed mt-tRNA intermediates in skeletal muscle cells and fibroblasts;

Prefixed ID : #615440;

Details

Origin ID

615440;

UMLS CUI

C3809526;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 17 [ORDO Disease]
- Combined oxidative phosphorylation defect type 17 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 17 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 17 [DO Concept]
Genes related to phenotype
- Elac ribonuclease z 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congestive heart failure [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 17 [ORDO Disease]
See also inter- (CISMeF)
- ELAC2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 17 (disorder) [SNOMED CT concept]

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