Previous symbols: DFNB12, USH1D. Aliases: CDHR23.
CDH23 encodes cadherin-23, a large calcium-dependent adhesion protein with multiple splice isoforms. In sensory hair cells, its extracellular region contributes to the upper part of stereociliary tip links and its cytoplasmic tail binds harmonin, supporting hair-bundle organization and mechanotransduction. CDH23 can also form homophilic adhesive contacts; experiments in human epithelial cell lines link its expression to cell aggregation and migration behavior. Pathogenic variants cause nonsyndromic hearing loss or Usher syndrome with auditory, vestibular and retinal involvement.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| CDH23-associated pituitary adenoma 5 | risk factor germline unknown |
mechanism: Germline CDH23 variant association; Predicted impaired CDH23-mediated cell adhesion
|
| Usher Syndrome Type 1 | causative |
mechanism: Hair Bundle Cohesion and Tip-Link Tension Failure; Photoreceptor Calyceal Process Network Disruption; Upper Tip-Link Density Complex Disruption
subtype: USH1D; USH1DF
scoped to subtype: USH1D
|
| Semicircular Canal Dehiscence Syndrome |
untyped
Risk Factor
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| nonsyndromic genetic hearing loss MONDO:0019497 | AR | Definitive 2018-05-22 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.