Disease #00639
| Official abbreviation |
COQ10D7 |
| Name |
COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7 |
| OMIM ID |
616276 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Individuals reported having this disease |
0 |
| Phenotype entries for this disease |
0 |
| Associated with 1 gene |
COQ4 |
| Associated tissues |
- |
| Disease features |
Primary coenzyme Q10 deficiency-7 (COQ10D7) is caused by homozygous or compound heterozygous mutation in the COQ4 gene (612898) on chromosome 9q34.
▼ Description
Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). |
| Remarks |
- |
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