Combined oxidative phosphorylation deficiency 14

Preferred Label : Combined oxidative phosphorylation deficiency 14;

Symbol : COXPD14;

CISMeF acronym : COXPD14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial phenylalanyl-tRNA synthetase 2 gene (FARS2, 611592.0001);

Laboratory abnormalities : Increased serum lactate; Aminoaciduria (rare);

Prefixed ID : #614946;

Details

Origin ID

614946;

UMLS CUI

C4755312;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 14 [ORDO Disease]
- Combined oxidative phosphorylation defect type 14 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 14 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 14 [DO Concept]
Genes related to phenotype
- Phenylalanyl-trna synthetase 2, mitochondrial [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Anemia [HPO term]
- Atrophy/Degeneration affecting the brainstem [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Death in infancy [HPO term]
- Diffuse cerebral atrophy [HPO term]
- EEG abnormality [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Profound global developmental delay [HPO term]
- Seizure [HPO term]
- Thrombocytopenia [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 14 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 14 (disorder) [SNOMED CT concept]

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