Coenzyme q10 deficiency, primary, 1

Preferred Label : Coenzyme q10 deficiency, primary, 1;

Symbol : COQ10D1;

CISMeF acronym : COQ10D1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Coq10 deficiency, primary, 1; Ubiquinone deficiency 1; Coenzyme q deficiency 1; Coq deficiency 1;

Description : Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009). The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. - Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency See also COQ10D2 (614651), caused by mutation in the PDSS1 gene (607429) on chromosome 10p12; COQ10D3 (614652), caused by mutation in the PDSS2 gene (610564) on chromosome 6q21; COQ10D4 (612016), caused by mutation in the COQ8 gene (ADCK3; 606980) on chromosome 1q42; COQ10D5 (614654), caused by mutation in the COQ9 gene (612837) on chromosome 16q21; and COQ10D6 (614650), caused by mutation in the COQ6 gene (614647) on chromosome 14q24. A single patient with primary CoQ10 deficiency associated with a de novo heterozygous 3.9-Mb deletion on chromosome 9q34 has been reported; the deleted region included at least 80 genes, 1 of which was COQ4 (612898) (Salviati et al., 2012). Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; 231680), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Coenzyme Q2, polyprenyltransferase gene (COQ2, 609825.0001);

Laboratory abnormalities : Decreased activity of coenzyme Q10-dependent respiratory chain complexes; Decreased levels of coenzyme Q10 in skeletal muscle (5-35%); Increased serum creatine kinase;

Prefixed ID : #607426;

Details

Origin ID

607426;

UMLS CUI

C3551954;

Automatic exact mappings (from CISMeF team)
- Leigh syndrome with nephrotic syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- primary coenzyme Q10 deficiency 1 [DO Concept]
DO Cross reference
- primary coenzyme Q10 deficiency 1 [DO Concept]
Genes related to phenotype
- Coenzyme q2, polyprenyltransferase [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Encephalopathy [HPO term]
- Fatigue [HPO term]
- Glomerular sclerosis [HPO term]
- Hepatic failure [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Motor delay [HPO term]
- Myoglobinuria, episodic [HPO term]
- Nephrotic syndrome [HPO term]
- Nystagmus [HPO term]
- Onset [HPO term]
- Pancytopenia [HPO term]
- Postural instability [HPO term]
- Progressive muscle weakness [HPO term]
- Ragged-red muscle fibers [HPO term]
- Recurrent myoglobinuria [HPO term]
- Rod-cone dystrophy [HPO term]
- Scanning speech [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Specific learning disability [HPO term]
- Variable age at onset [HPO term]
- Visual loss [HPO term]
Matching ORDO disease(s)
- Coenzyme Q10 deficiency [ORDO Disease]
ORDO concept(s)
- Leigh syndrome with nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- coenzyme Q10 deficiency disease [DO Concept]
Validated automatic mappings to NTBT
- Coenzyme Q10 deficiency [ORDO Disease]
- coenzyme Q10 deficiency [MeSH concept]
- coenzyme Q10 deficiency [MeSH Supplementary Concept]
- coenzyme Q10 deficiency disease [DO Concept]

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