Combined oxidative phosphorylation deficiency 35

Preferred Label : Combined oxidative phosphorylation deficiency 35;

Symbol : COXPD35;

CISMeF acronym : COXPD35;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tRNA isopentenyltransferase 1 gene (TRIT1, 617840.0001);

Laboratory abnormalities : Decreased activities of mitochondrial respiratory complexes I, III, and IV, variable in different tissues;

Prefixed ID : #617873;

Details

Origin ID

617873;

UMLS CUI

C4693466;

Currated CISMeF NLP mapping
- combined oxidative phosphorylation deficiency 35 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 35 [DO Concept]
Genes related to phenotype
- Trna isopentenyltransferase 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Encephalopathy [HPO term]
- Esotropia [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Myopia [HPO term]
- Optic disc hypoplasia [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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