RGDs registry under the 'Eye disorders / Ear disorders'
| Disorder Name (Total=3) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Usher syndrome Autosomal recessive |
•Retinitis pigmentosa-deafness syndrome •Retinitis pigmentosa-hearing loss syndrome •Usher Syndromes •Usher's syndrome •USH |
- |
USH2A usherin WHRN whirlin USH1G USH1 protein network component sans CLRN1 clarin 1 CDH23 cadherin related 23 PCDH15 protocadherin related 15 USH1C USH1 protein network component harmonin ADGRV1 adhesion G protein-coupled receptor V1 MYO7A myosin VIIA HARS1 histidyl-tRNA synthetase 1 PDZD7 PDZ domain containing 7 CIB2 calcium and integrin binding family member 2 PROM1 prominin 1 ESPN espin ARSG arylsulfatase G SLC9B1 solute carrier family 9 member B1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Waardenburg syndrome Autosomal dominant |
- |
PAX3 paired box 3 SOX10 SRY-box transcription factor 10 MITF melanocyte inducing transcription factor EDNRB endothelin receptor type B EDN3 endothelin 3 KITLG KIT ligand |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Atrophia bulborum hereditaria X-linked dominant |
•Norrie disease •Episkopi blindness •Fetal iritis syndrome •Norrie syndrom |
Retinal disorders |
NDP norrin cystine knot growth factor NDP TSPAN12 tetraspanin 12 |
Reports Updated as of Jan 04, 2024 |
PubMed |