Disorder "Age-Related Hearing Impairment"
Found 1 record
Disorder information
Disorder name:
Age-Related Hearing Impairment
Disoder ID:
Definition:
Age-related hearing impairment (ARHI), or presbycusis, is the progressive bilaterally symmetric deterioration of hearing ability that occurs with aging
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CDH23 | CDH23:c.753A/G* | Expressivity | Altered severity | Study on mouse strains | This variant of Cdh23(753A/G) also was shown to modify hearing loss associated with the Atp2b2(dfw-2J) and Mass1(frings) mutations. Recently, a variant of the human ATP2B2 gene was shown to exacerbate hearing loss in individuals homozygous for a CDH23 mutation, similar to the Atp2b2(dfw-2J)-Cdh23(753A/G) interaction affecting hearing in mice.more | more |
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