沃克-沃伯格综合征
Walker-Warburg syndrome
ORPHA:899疾病
定义 英文原文（暂无中文）
A rare form of congenital muscular dystrophy (CMD) associated with severe brain and eye abnormalities. It is the most severe form of CMD.
别名
脑积水-无脑回畸形-视网膜发育不良综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000（United Kingdom）
相关基因 14
| 基因 | 名称 | 关联类型 |
|---|---|---|
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Disease-causing germline mutation(s) in |
| POMT1 | protein O-mannosyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in |
| POMT2 | protein O-mannosyltransferase 2 | Disease-causing germline mutation(s) (loss of function) in |
| COL4A1 | collagen type IV alpha 1 chain | Candidate gene tested in |
| FKTN | fukutin | Disease-causing germline mutation(s) (loss of function) in |
| FKRP | fukutin related protein | Disease-causing germline mutation(s) (loss of function) in |
| LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | Disease-causing germline mutation(s) in |
| DAG1 | dystroglycan 1 | Disease-causing germline mutation(s) (loss of function) in |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | Disease-causing germline mutation(s) (loss of function) in |
| POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Disease-causing germline mutation(s) (loss of function) in |
| RXYLT1 | ribitol xylosyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Disease-causing germline mutation(s) (loss of function) in |
| B4GAT1 | beta-1,4-glucuronyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in |
| POMK | protein O-mannose kinase | Disease-causing germline mutation(s) (loss of function) in |
临床表型 51
极常见 99–80%30
- 循环醛缩酶浓度异常 HP:0012400
- 血液肌酸激酶水平异常 HP:0040081
- 脑皮质沟回异常 HP:0002536
- 循环乳酸脱氢酶水平异常 HP:0045040
- 视神经形态异常 HP:0000587
- 神经细胞迁移异常 HP:0002269
- 小脑蚓部形态异常 HP:0002334
- 骨骼肌发育不良/发育不全 HP:0001460
- 神经反射消失 HP:0001284
- 小脑发育不全 HP:0001321
- 脉络膜视网膜发育不良 HP:0007731
- 全面发育迟缓 HP:0001263
- 脑积水 HP:0000238
- 腱反射减弱 HP:0001265
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 无脑回畸形 HP:0001339
- 跖骨外翻 HP:0010508
- 肌无力 HP:0001324
- 肌营养不良 HP:0003560
- 视神经萎缩 HP:0000648
- 巨脑回 HP:0001302
- 巨脑回 HP:0001302
- 多小脑回 HP:0002126
- 视网膜脱离 HP:0000541
- 视网膜发育不良 HP:0007973
- 视网膜营养不良 HP:0000556
- 骨骼肌萎缩 HP:0003202
- 特定的学习障碍 HP:0001328
- 巨脑室 HP:0002119
常见 79–30%10
- 透明隔缺如 HP:0001331
- 胼胝体发育不全 HP:0001274
- 无眼畸形 HP:0000528
- 角膜混浊 HP:0007957
- 隐睾 HP:0000028
- 第四脑室孔闭塞综合征（Dandy-Walker畸形） HP:0001305
- 青光眼 HP:0000501
- 阴茎发育不良 HP:0008736
- 巨头畸形 HP:0000256
- 小眼症 HP:0000568
偶见 29–5%11
- 悬雍垂裂 HP:0000193
- 白内障 HP:0000518
- 腭裂 HP:0000175
- 虹膜缺损 HP:0000612
- 低位耳 HP:0000369
- 小头畸形 HP:0000252
- 小角膜 HP:0000482
- 后旋耳 HP:0000358
- 招风耳 HP:0000411
- 癫痫发作 HP:0001250
- 黏膜下硬裂腭 HP:0000176
外部标识与链接
OrphanetOMIM:236670OMIM:253280OMIM:253800MONDO:0000171GARD:2599ICD-10 G71.2ICD-11 8C70.6ClinicalTrials.gov 检索
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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）