常染色体显性遗传非综合征性感音神经性聋DFNA型
Autosomal dominant non-syndromic genetic deafness
ORPHA:90635疾病亚型
别名
常染色体显性遗传非综合征型神经感觉性耳聋DFNA型
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期
相关基因 51
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ESPN | espin | Disease-causing germline mutation(s) in |
| POU4F3 | POU class 4 homeobox 3 | Disease-causing germline mutation(s) in |
| SIX1 | SIX homeobox 1 | 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 |
| WFS1 | wolframin ER transmembrane glycoprotein | Disease-causing germline mutation(s) in |
| COCH | cochlin | Disease-causing germline mutation(s) in |
| COL11A1 | collagen type XI alpha 1 chain | Disease-causing germline mutation(s) in |
| COL11A2 | collagen type XI alpha 2 chain | Disease-causing germline mutation(s) in |
| GSDME | gasdermin E | Disease-causing germline mutation(s) in |
| EYA4 | EYA transcriptional coactivator and phosphatase 4 | Disease-causing germline mutation(s) 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 |
| KCNQ4 | potassium voltage-gated channel subfamily Q member 4 | Disease-causing germline mutation(s) in |
| MYH14 | myosin heavy chain 14 | Disease-causing germline mutation(s) in |
| MYH9 | myosin heavy chain 9 | Disease-causing germline mutation(s) in |
| MYO6 | myosin VI | Disease-causing germline mutation(s) in |
| MYO7A | myosin VIIA | Disease-causing germline mutation(s) in |
| CCDC50 | coiled-coil domain containing 50 | Disease-causing germline mutation(s) in |
| GRHL2 | grainyhead like transcription factor 2 | Disease-causing germline mutation(s) in |
| MYO1A | myosin IA | Candidate gene tested in |
| CRYM | crystallin mu | Disease-causing germline mutation(s) in |
| ACTG1 | actin gamma 1 | Disease-causing germline mutation(s) in |
| SLC17A8 | solute carrier family 17 member 8 | Disease-causing germline mutation(s) in |
| MIR96 | microRNA 96 | Disease-causing germline mutation(s) in |
| KITLG | KIT ligand | Disease-causing germline mutation(s) in |
| PTPRQ | protein tyrosine phosphatase receptor type Q | Disease-causing germline mutation(s) in |
| TBC1D24 | TBC1 domain family member 24 | Disease-causing germline mutation(s) in |
| TJP2 | tight junction protein 2 | Disease-causing germline mutation(s) in |
| CEACAM16 | CEA cell adhesion molecule 16, tectorial membrane component | Disease-causing germline mutation(s) in |
| DIABLO | diablo IAP-binding mitochondrial protein | Disease-causing germline mutation(s) in |
| DIAPH3 | diaphanous related formin 3 | Disease-causing germline mutation(s) in |
| P2RX2 | purinergic receptor P2X 2 | Disease-causing germline mutation(s) in |
| ATP11A | ATPase phospholipid transporting 11A | Disease-causing germline mutation(s) in |
| TNC | tenascin C | Disease-causing germline mutation(s) in |
| MYO1C | myosin IC | Disease-causing germline mutation(s) in |
| OSBPL2 | oxysterol binding protein like 2 | Disease-causing germline mutation(s) in |
| HOMER2 | homer scaffold protein 2 | Disease-causing germline mutation(s) in |
| DMXL2 | Dmx like 2 | 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）