Rh缺乏综合征
Rh deficiency syndrome
ORPHA:71275疾病
定义 英文原文（暂无中文）
A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the RHAG gene), while the amorph type is due to mutations at the RH locus itself.
别名
Rh因子缺乏综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 无数据
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| RHAG | Rh associated glycoprotein | Disease-causing germline mutation(s) in |
| RHCE | Rh blood group CcEe antigens | Disease-causing germline mutation(s) in |
| RHD | Rh blood group D antigen | Disease-causing germline mutation(s) in |
临床表型 20
极常见 99–80%5
- 溶血性贫血 HP:0001878
- 红细胞渗透脆性增加 HP:0005502
- 直接抗球蛋白试验阳性 HP:0032366
- 结合珠蛋白水平降低 HP:0020181
- 网织红细胞增多症 HP:0001923
常见 79–30%5
- 高胆红素血症 HP:0002904
- 低色素（红细胞） HP:0032231
- 乳酸脱氢酶活性增高 HP:0025435
- 球形红细胞增多症 HP:0004444
- 口形红细胞增多症 HP:0004446
偶见 29–5%9
- 红细胞大小不均 HP:0011273
- 肝脾肿大 HP:0001433
- 低氧血症 HP:0012418
- 胎儿宫内发育迟缓 HP:0001511
- 黄疸 HP:0000952
- 羊水过少 HP:0001562
- 流产 HP:0005268
- 心动过速 HP:0001649
- 呼吸过速 HP:0002789
罕见 <4–1%1
- 大细胞性贫血 HP:0001972
外部标识与链接
OrphanetOMIM:268150OMIM:617970OMIM:619462MONDO:0019107GARD:12916ICD-10 D58.8ICD-11 3A10.YClinicalTrials.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）