肌-眼-脑病
Muscle-eye-brain disease
ORPHA:588疾病
定义 英文原文（暂无中文）
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe intellectual disability and typical brain and eye malformations including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. A broad clinical spectrum is observed with variable involvement of each organ system.
别名
Santavuori型先天性肌营养不良症
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
相关基因 9
| 基因 | 名称 | 关联类型 |
|---|---|---|
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Disease-causing germline mutation(s) (loss of function) in |
| POMT1 | protein O-mannosyltransferase 1 | Disease-causing germline mutation(s) in |
| POMT2 | protein O-mannosyltransferase 2 | Disease-causing germline mutation(s) in |
| FKTN | fukutin | Disease-causing germline mutation(s) in |
| FKRP | fukutin related protein | Disease-causing germline mutation(s) in |
| LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | Candidate gene tested in |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | Disease-causing germline mutation(s) in |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Disease-causing germline mutation(s) (loss of function) in |
| GMPPB | GDP-mannose pyrophosphorylase B | Disease-causing germline mutation(s) in |
临床表型 23
极常见 99–80%13
- 异常言语模式 HP:0002167
- 认知功能损害 HP:0100543
- 脑电图异常 HP:0002353
- 肌电图异常 HP:0003457
- 血清肌酸磷酸激酶升高 HP:0003236
- 步态异常 HP:0001288
- 青光眼 HP:0000501
- 脑积水 HP:0000238
- 肌病 HP:0003198
- 近视 HP:0000545
- 视神经萎缩 HP:0000648
- 斜视 HP:0000486
- 视觉障碍 HP:0000505
常见 79–30%6
- 运动异常 HP:0100022
- 声音异常 HP:0001608
- 白内障 HP:0000518
- 肌张力增高 HP:0001276
- 肌张力减退 HP:0001252
- 癫痫发作 HP:0001250
偶见 29–5%4
- 小脑发育缺陷/发育不全 HP:0007360
- 偏瘫/轻偏瘫 HP:0004374
- 前脑无裂畸形 HP:0001360
- 脑脊膜膨出 HP:0002435
外部标识与链接
OrphanetOMIM:236670OMIM:253280OMIM:253800MONDO:0018939GARD:156ICD-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）