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| GENATLAS PHENOTYPE |
| last update : 26-10-2018 |
| Symbol | CTPP3 |
| Location | 20q11.22 |
| Name | cataract, posterior polar (subcapsular) 3 |
| Other name(s) |
|
| Corresponding gene | CHMP4B |
| Other symbol(s) | CTPP3, CPP3, CTRCT31 |
| Main clinical features | progressive childhood posterior subcapsular cataract, in the absence of other ocular or systemic abnormalities, in both eyes as disc-shaped posterior subcapsular opacities, progressing with age to affect the nucleus and anterior subcapsular regions of the lens |
| Genetic determination | autosomal dominant |
| Function/system disorder | eye |
| Type | disease |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| missense | abnormal protein/gain of function | gain-of-function defects in an endosome-sorting complex (ESCRT-III) subunit triggers loss of lens transparency |
| Remark(s) |