Coenzyme q10 deficiency, primary, 7

Preferred Label : Coenzyme q10 deficiency, primary, 7;

Symbol : COQ10D7;

CISMeF acronym : COQ10D7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae coenzyme Q4 gene (COQ4, 612898.0001);

Laboratory abnormalities : Increased urinary 2-OH glutaric acid (in some patients); Increased serum lactate;

Prefixed ID : #616276;

Details

Origin ID

616276;

UMLS CUI

C5568562;

Currated CISMeF NLP mapping
- Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) [SNOMED CT concept]
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [ORDO Disease]
- primary coenzyme Q10 deficiency 7 [DO Concept]
DO Cross reference
- primary coenzyme Q10 deficiency 7 [DO Concept]
Genes related to phenotype
- Coenzyme q4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dysphagia [HPO term]
- Epileptic encephalopathy [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoplastic left heart [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Intrauterine growth retardation [HPO term]
- Neonatal hypotonia [HPO term]
- Patent ductus arteriosus [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) [SNOMED CT concept]

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