Coenzyme q10 deficiency, primary, 3

Preferred Label : Coenzyme q10 deficiency, primary, 3;

Symbol : COQ10D3;

CISMeF acronym : COQ10D3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the prenyl diphosphate synthase, subunit 2 gene (PDSS2, 610564.0001);

Laboratory abnormalities : Increased serum lactate; Proteinuria;

Prefixed ID : #614652;

Details

Origin ID

614652;

UMLS CUI

C3553358;

Automatic exact mappings (from CISMeF team)
- Leigh syndrome with nephrotic syndrome [ORDO Disease]
- primary coenzyme Q10 deficiency 3 [DO Concept]
DO Cross reference
- primary coenzyme Q10 deficiency 3 [DO Concept]
Genes related to phenotype
- Prenyl diphosphate synthase, subunit 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Edema [HPO term]
- Feeding difficulties [HPO term]
- Increased serum lactate [HPO term]
- Neonatal hypotonia [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Leigh syndrome with nephrotic 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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