Combined oxidative phosphorylation deficiency 29

Preferred Label : Combined oxidative phosphorylation deficiency 29;

Symbol : COXPD29;

CISMeF acronym : COXPD29;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thioredoxin 2 gene (TXN2, 609063.0001);

Laboratory abnormalities : Increased CSF lactate; Increased serum lactate;

Prefixed ID : #616811;

Details

Origin ID

616811;

UMLS CUI

C5567607;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 29 [ORDO Disease]
- Combined oxidative phosphorylation defect type 29 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 29 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 29 [DO Concept]
Genes related to phenotype
- Thioredoxin 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Cerebellar atrophy [HPO term]
- Congenital onset [HPO term]
- Decreased activity of mitochondrial complex I [HPO term]
- Decreased activity of mitochondrial complex III [HPO term]
- Delayed CNS myelination [HPO term]
- Dystonia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Increased CSF lactate [HPO term]
- Increased CSF protein [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Microcephaly [HPO term]
- Optic atrophy [HPO term]
- Optic neuropathy [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive [HPO term]
- Retinopathy [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Spasticity [HPO term]
- Subependymal cysts [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 29 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 29 (disorder) [SNOMED CT concept]

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