Disorder "Primary coenzyme Q10 deficiency 1"
Found 2 records
Disorder information
Disorder name:
Primary coenzyme Q10 deficiency 1
Disoder ID:
OMIM entry:
Synonyms:
coenzyme Q deficiency 1, ubiquinone deficiency 1, CoQ10 deficiency, primary, 1, COQ10D1, CoQ deficiency 1
Definition:
A primary coenzyme q10 deficiency that has_material_basis_in an autosomal recessive mutation of coq2 on chromosome 4q21.22-q21.23.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| mitochondria | mitochondria:c.A1555G | Expressivity | Altered severity | Gene activity study | Both mutations lead to loss of protein stability and decreased levels of ubiquinone that correlate with the severity of mitochondrial dysfunctionmore | more |
| COQ7 | COQ7:rs11074359 | Expressivity | Altered severity | Gene activity study | Both mutations lead to loss of protein stability and decreased levels of ubiquinone that correlate with the severity of mitochondrial dysfunctionmore | more |
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