Coenzyme q10 deficiency, primary, 2

Preferred Label : Coenzyme q10 deficiency, primary, 2;

Symbol : COQ10D2;

CISMeF acronym : COQ10D2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the prenyl diphosphate synthase, subunit 1 gene (PDSS1, 607429.0001);

Laboratory abnormalities : Increased serum lactate;

Prefixed ID : #614651;

Details

Origin ID

614651;

UMLS CUI

C3553354;

Automatic exact mappings (from CISMeF team)
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ORDO Disease]
- primary coenzyme Q10 deficiency 2 [DO Concept]
DO Cross reference
- primary coenzyme Q10 deficiency 2 [DO Concept]
Genes related to phenotype
- Prenyl diphosphate synthase, subunit 1 [OMIM gene]
HPO term(s)
- Aortic regurgitation [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cutis marmorata [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability, mild [HPO term]
- Macrocephaly [HPO term]
- Mitral regurgitation [HPO term]
- Obesity [HPO term]
- Optic atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Pulmonary arterial hypertension [HPO term]
ORDO concept(s)
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- coenzyme Q10 deficiency disease [DO Concept]

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