Disorder "Deafness"
Found 2 records
Disorder information
Disorder name:
Deafness
Disoder ID:
Synonyms:
Complete deafness (finding), Bilateral Deafness, Deafness NOS, Deafness NOS (disorder), Bilateral deafness (finding), Total Deafness, Deafness NOS (finding), complete hearing loss
Definition:
An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears.A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
1
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered gene activity(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TRMU | TRMU:rs11090865 | Expressivity | Risk factor | Gene activity study | mutated TRMU worsened mitochondrial dysfunctions associated with m.1555A→G mutation, exceeding the threshold for expressing a deafness phenotype.more | more |
| TRMU:rs11090865 | Expressivity | Altered gene activity | Pedigree analysis | The mutated TRMU, acting as a modifier factor, modulates the phenotypic manifestation of the deafness-associated 12S rRNA mutationsmore | more |
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