Coenzyme q10 deficiency, primary, 4

Preferred Label : Coenzyme q10 deficiency, primary, 4;

Symbol : COQ10D4;

CISMeF acronym : COQ10D4; SCAR9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCAR9; Spinocerebellar ataxia, autosomal recessive 9;

Description : Primary coenzyme Q10 deficiency-4 is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. Oral coenzyme Q10 supplementation does not result in significant improvement of neurologic symptoms (summary by Mollet et al., 2008 and Lagier-Tourenne et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the AARF domain-containing kinase 3 gene (ADCK3, 606980.0001);

Laboratory abnormalities : Increased serum and CSF lactate;

Prefixed ID : #612016;

Détails

Origin ID

612016;

UMLS CUI

C2677589;

Automatic exact mappings (from CISMeF team)
- coenzyme Q8A [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive ataxia due to ubiquinone deficiency [ORDO Disease]
- primary coenzyme Q10 deficiency 4 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 9 [MeSH concept]
- spinocerebellar ataxia, autosomal recessive 9 [MeSH Supplementary Concept]
DO Cross reference
- primary coenzyme Q10 deficiency 4 [DO Concept]
Genes related to phenotype
- Coenzyme q8a [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Exercise intolerance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Increased intramyocellular lipid droplets [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Myoclonus [HPO term]
- Pes cavus [HPO term]
- Proximal muscle weakness [HPO term]
- Seizure [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal recessive ataxia due to ubiquinone deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive ataxia due to ubiquinone deficiency [ORDO Disease]
- Autosomal recessive ataxia due to ubiquinone deficiency (disorder) [SNOMED CT concept]
- spinocerebellar ataxia, autosomal recessive 9 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 9 [MeSH concept]
Validated automatic mappings to NTBT
- coenzyme Q10 deficiency disease [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients