Coenzyme q10 deficiency, primary, 6

Preferred Label : Coenzyme q10 deficiency, primary, 6;

Symbol : COQ10D6;

CISMeF acronym : COQ10D6;

Type : Phenotype, molecular basis known;

Description : Primary coenzyme Q10 deficiency-6 is an autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis (FSGS). Some patients may show a favorable response to oral coenzyme Q supplementation (summary by Heeringa et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278) and NPHS1 (256300).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae COQ6 gene (COQ6, 614647.0001);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #614650;

Details

Origin ID

614650;

UMLS CUI

C3553349;

Automatic exact mappings (from CISMeF team)
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness [ORDO Disease]
- primary coenzyme Q10 deficiency 6 [DO Concept]
DO Cross reference
- primary coenzyme Q10 deficiency 6 [DO Concept]
Genes related to phenotype
- Coenzyme q6, monooxygenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Infantile onset [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Rapidly progressive [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness [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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