Combined oxidative phosphorylation deficiency 7

Preferred Label : Combined oxidative phosphorylation deficiency 7;

Symbol : COXPD7;

CISMeF acronym : COXPD7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 12 open reading frame 65 gene (C12ORF65, 613541.0001);

Laboratory abnormalities : Increased serum lactate; Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V;

Prefixed ID : #613559;

Details

Origin ID

613559;

UMLS CUI

C3150801;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 7 [ORDO Disease]
- Combined oxidative phosphorylation defect type 7 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency type 7 [ICD-11 More detail]
- combined oxidative phosphorylation deficiency 7 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 7 [DO Concept]
Genes related to phenotype
- Mitochondrial translation release factor in rescue [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Developmental regression [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Facial diplegia [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Ophthalmoplegia [HPO term]
- Optic atrophy [HPO term]
- Paralytic ileus [HPO term]
- Polyneuropathy [HPO term]
- Progressive [HPO term]
- Psychomotor retardation [HPO term]
- Ptosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 7 [ORDO Disease]
- Combined oxidative phosphorylation defect type 7 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency type 7 [ICD-11 More detail]

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