Alport综合征-智力障碍-面中部发育不全-椭圆形红细胞增多症综合征
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
ORPHA:86818疾病
定义 英文原文（暂无中文）
A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.
别名
AMME综合征
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 产前、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ACSL4 | acyl-CoA synthetase long chain family member 4 | Role in the phenotype of |
| AMMECR1 | AMMECR nuclear protein 1 | Role in the phenotype of |
| KCNE5 | potassium voltage-gated channel subfamily E regulatory subunit 5 | Role in the phenotype of |
临床表型 22
极常见 99–80%9
- 毛发形态异常 HP:0001595
- 鼻孔前翻 HP:0000463
- 鼻梁塌陷 HP:0005280
- 下斜睑裂 HP:0000494
- 肾小球病 HP:0100820
- 重度智力障碍 HP:0010864
- 颧骨扁平 HP:0000272
- 镜下血尿症 HP:0002907
- 蛋白尿 HP:0000093
常见 79–30%7
- 椭圆形红细胞增多症 HP:0004445
- 听力受损 HP:0000365
- 肌张力减退 HP:0001252
- 肾功能不全 HP:0000083
- 锥形指 HP:0001182
- 厚红唇缘 HP:0012471
- 下红唇薄 HP:0000233
偶见 29–5%6
- 主动脉瓣形态异常 HP:0001646
- 干骺端形态异常 HP:0000944
- 近视 HP:0000545
- 动脉导管未闭 HP:0001643
- 斜视 HP:0000486
- 多生牙 HP:0011069
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）