Combined oxidative phosphorylation deficiency 13

Preferred Label : Combined oxidative phosphorylation deficiency 13;

Symbol : COXPD13;

CISMeF acronym : COXPD13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polyribonucleotide nucleotidyltransferase 1 gene (PNPT1, 610316.0001);

Laboratory abnormalities : Increased serum and CSF lactate;

Prefixed ID : #614932;

Details

Origin ID

614932;

UMLS CUI

C4706283;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 13 [ORDO Disease]
- Combined oxidative phosphorylation defect type 13 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 13 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 13 [DO Concept]
Genes related to phenotype
- Polyribonucleotide nucleotidyltransferase 1 [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Choreoathetosis [HPO term]
- Decreased mitochondrial complex III activity in liver tissue [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Growth delay [HPO term]
- Hyporeflexia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Leukodystrophy [HPO term]
- Nystagmus [HPO term]
- Poor head control [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe muscular hypotonia [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 13 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 13 [ORDO Disease]
- Combined oxidative phosphorylation defect type 13 (disorder) [SNOMED CT concept]

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