常染色体隐性遗传非综合征性感音神经性聋DFNB型
Autosomal recessive non-syndromic genetic deafness
ORPHA:90636疾病亚型
别名
常染色体隐性遗传非综合征型神经感觉性耳聋DFNB型
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
相关基因 76
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PDZD7 | PDZ domain containing 7 | Disease-causing germline mutation(s) in |
| SLC26A4 | solute carrier family 26 member 4 | Disease-causing germline mutation(s) in |
| BSND | barttin CLCNK type accessory subunit beta | Disease-causing germline mutation(s) in |
| CDH23 | cadherin related 23 | Disease-causing germline mutation(s) in |
| TECTA | tectorin alpha | Disease-causing germline mutation(s) in |
| TMC1 | transmembrane channel like 1 | Disease-causing germline mutation(s) in |
| TMIE | transmembrane inner ear | Disease-causing germline mutation(s) in |
| TMPRSS3 | transmembrane serine protease 3 | Disease-causing germline mutation(s) in |
| USH1C | USH1 protein network component harmonin | Disease-causing germline mutation(s) in |
| COL11A2 | collagen type XI alpha 2 chain | Disease-causing germline mutation(s) in |
| GJA1 | gap junction protein alpha 1 | Candidate gene tested in |
| GJB2 | gap junction protein beta 2 | Disease-causing germline mutation(s) in |
| GJB3 | gap junction protein beta 3 | Disease-causing germline mutation(s) in |
| GJB6 | gap junction protein beta 6 | Disease-causing germline mutation(s) in |
| MET | MET proto-oncogene, receptor tyrosine kinase | Disease-causing germline mutation(s) in |
| MYO15A | myosin XVA | Disease-causing germline mutation(s) in |
| MYO6 | myosin VI | Disease-causing germline mutation(s) in |
| MYO7A | myosin VIIA | Disease-causing germline mutation(s) in |
| OTOF | otoferlin | Disease-causing germline mutation(s) in |
| PCDH15 | protocadherin related 15 | Disease-causing germline mutation(s) in |
| WHRN | whirlin | Disease-causing germline mutation(s) in |
| STRC | stereocilin | Disease-causing germline mutation(s) in |
| TRIOBP | TRIO and F-actin binding protein | Disease-causing germline mutation(s) in |
| RDX | radixin | Disease-causing germline mutation(s) in |
| LHFPL5 | LHFPL tetraspan subfamily member 5 | Disease-causing germline mutation(s) in |
| ESPN | espin | Disease-causing germline mutation(s) in |
| ESRRB | estrogen related receptor beta | Disease-causing germline mutation(s) in |
| MARVELD2 | MARVEL domain containing 2 | Disease-causing germline mutation(s) in |
| MYO3A | myosin IIIA | Disease-causing germline mutation(s) in |
| SLC26A5 | solute carrier family 26 member 5 | Disease-causing germline mutation(s) in |
| OTOA | otoancorin | Disease-causing germline mutation(s) in |
| PJVK | pejvakin | Disease-causing germline mutation(s) in |
| CLDN14 | claudin 14 | Disease-causing germline mutation(s) in |
| LRTOMT | leucine rich transmembrane and O-methyltransferase domain containing | Disease-causing germline mutation(s) in |
| HGF | hepatocyte growth factor | Disease-causing germline mutation(s) in |
| LOXHD1 | lipoxygenase homology PLAT domains 1 | Disease-causing germline mutation(s) in |
| GRXCR1 | glutaredoxin and cysteine rich domain containing 1 | Disease-causing germline mutation(s) in |
| TPRN | taperin | Disease-causing germline mutation(s) in |
| PTPRQ | protein tyrosine phosphatase receptor type Q | Disease-causing germline mutation(s) in |
| SERPINB6 | serpin family B member 6 | Disease-causing germline mutation(s) in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）