Meckel综合征
Meckel syndrome
ORPHA:564疾病
定义 英文原文（暂无中文）
A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
别名
Meckel-Gruber综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前
- 患病率
- 1-9 / 100 000（France）
相关基因 17
| 基因 | 名称 | 关联类型 |
|---|---|---|
| RPGRIP1 | RPGR interacting protein 1 | Candidate gene tested in |
| CEP290 | centrosomal protein 290 | Disease-causing germline mutation(s) in |
| TMEM67 | transmembrane protein 67 | Disease-causing germline mutation(s) in |
| MKS1 | MKS transition zone complex subunit 1 | Disease-causing germline mutation(s) in |
| RPGRIP1L | RPGRIP1 like | Disease-causing germline mutation(s) in |
| CC2D2A | coiled-coil and C2 domain containing 2A | Disease-causing germline mutation(s) in |
| TMEM216 | transmembrane protein 216 | Disease-causing germline mutation(s) in |
| TCTN2 | tectonic family member 2 | Disease-causing germline mutation(s) in |
| B9D1 | B9 domain containing 1 | Disease-causing germline mutation(s) in |
| TCTN1 | tectonic family member 1 | Disease-causing germline mutation(s) (loss of function) in |
| B9D2 | B9 domain containing 2 | Disease-causing germline mutation(s) in |
| TMEM237 | transmembrane protein 237 | Disease-causing germline mutation(s) (loss of function) in |
| TCTN3 | tectonic family member 3 | Disease-causing germline mutation(s) (loss of function) in |
| TMEM231 | transmembrane protein 231 | Disease-causing germline mutation(s) (loss of function) in |
| CSPP1 | centrosome and spindle pole associated protein 1 | Disease-causing germline mutation(s) in |
| TMEM107 | transmembrane protein 107 | Disease-causing germline mutation(s) (loss of function) in |
| TXNDC15 | thioredoxin domain containing 15 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 45
极常见 99–80%6
- 先天性肝纤维化 HP:0002612
- 脑膨出 HP:0002084
- 小头畸形 HP:0000252
- 多囊性肾发育不良 HP:0000003
- 轴后多趾 HP:0001830
- 轴后多指畸形 HP:0001162
常见 79–30%19
- 外阴性别不明 HP:0000062
- 虹膜发育缺陷/不全 HP:0008053
- 白内障 HP:0000518
- 脉络膜视网膜形态异常 HP:0000532
- 腭裂 HP:0000175
- 隐睾 HP:0000028
- 鼻嵴凹陷 HP:0000457
- 脸颊丰满 HP:0000293
- 眼距过宽 HP:0000316
- 脑叶性前脑无裂畸形 HP:0006870
- 小角膜 HP:0000482
- 小下颌 HP:0000347
- 小眼症 HP:0000568
- 羊水过少 HP:0001562
- 视神经萎缩 HP:0000648
- 后旋耳 HP:0000358
- 角膜巩膜化 HP:0000647
- 额头倾斜 HP:0000340
- 畸形足 HP:0001883
偶见 29–5%20
- 心血管系统形态异常 HP:0030680
- 副脾 HP:0001747
- 无脑畸形 HP:0002323
- 无眼畸形 HP:0000528
- 胼胝体发育缺陷/发育不全 HP:0007370
- 舌未发育/舌发育不全 HP:0010295
- 无脾 HP:0001746
- 长骨弯曲 HP:0006487
- 囊性肝病 HP:0006706
- 第四脑室孔闭塞综合征（Dandy-Walker畸形） HP:0001305
- 沟裂舌 HP:0000221
- 脑积水 HP:0000238
- 男性假两性畸形 HP:0000037
- 胰腺囊肿 HP:0001737
- 胰腺纤维化 HP:0100732
- 轴前多指 HP:0001177
- 全内脏反位 HP:0001696
- 真两性畸形 HP:0010459
- 输尿管重复 HP:0000073
- 尿道闭锁 HP:0000068
外部标识与链接
OrphanetOMIM:249000OMIM:267010OMIM:603194MONDO:0018921GARD:3436ICD-10 Q61.9ICD-11 LD2F.13ClinicalTrials.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）