Galloway-Mowat综合征
Galloway-Mowat syndrome
ORPHA:2065疾病
定义 英文原文（暂无中文）
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.
别名
小脑畸形-食管裂孔疝-肾病综合征
基本事实
- 遗传方式
- 常染色体隐性、X 连锁隐性
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 患病率
- 1-9 / 1 000 000
相关基因 10
| 基因 | 名称 | 关联类型 |
|---|---|---|
| WDR73 | WD repeat domain 73 | Disease-causing germline mutation(s) (loss of function) in |
| NUP107 | nucleoporin 107 | Disease-causing germline mutation(s) in |
| WDR4 | WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Disease-causing germline mutation(s) in |
| OSGEP | O-sialoglycoprotein endopeptidase | Disease-causing germline mutation(s) in |
| TP53RK | TP53 regulating kinase | Disease-causing germline mutation(s) in |
| TPRKB | TP53RK binding protein | Disease-causing germline mutation(s) in |
| LAGE3 | L antigen family member 3 | Disease-causing germline mutation(s) in |
| NUP133 | nucleoporin 133 | Disease-causing germline mutation(s) (loss of function) in |
| GON7 | GON7 subunit of KEOPS complex | Disease-causing germline mutation(s) in |
| YRDC | yrdC N6-threonylcarbamoyltransferase domain containing | Disease-causing germline mutation(s) in |
临床表型 28
极常见 99–80%7
- 认知功能损害 HP:0100543
- 全面发育迟缓 HP:0001263
- 耳软骨发育不全 HP:0100720
- 小头畸形 HP:0000252
- 肾病 HP:0000112
- 肾病综合征 HP:0000100
- 蛋白尿 HP:0000093
常见 79–30%9
- 神经细胞迁移异常 HP:0002269
- 脑电图异常 HP:0002353
- 裂孔疝 HP:0002036
- 胎儿宫内发育迟缓 HP:0001511
- 巨耳畸形 HP:0000400
- 巨脑回 HP:0001302
- 早产 HP:0001622
- 癫痫发作 HP:0001250
- 身材矮小 HP:0004322
偶见 29–5%12
- 椎间盘形态异常 HP:0005108
- 免疫系统功能异常 HP:0010978
- 牙列异常 HP:0000164
- 拇指内收 HP:0001181
- 中脑导水管狭窄 HP:0002410
- 手指弯曲 HP:0100490
- 偏瘫/轻偏瘫 HP:0004374
- 眼距过宽 HP:0000316
- 肌张力增高 HP:0001276
- 眼距过窄 HP:0000601
- 肌张力减退 HP:0001252
- 小下颌 HP:0000347
外部标识与链接
OrphanetOMIM:251300OMIM:301006OMIM:617729MONDO:0009627GARD:65ICD-10 Q04.3ICD-11 GB41ClinicalTrials.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）