Omenn综合征
Omenn syndrome
ORPHA:39041疾病
定义 英文原文（暂无中文）
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).
别名
免疫缺陷合并嗜酸性粒细胞增多
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 10
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NUDCD3 | NudC domain containing 3 | Disease-causing germline mutation(s) in |
| ADA | adenosine deaminase | Disease-causing germline mutation(s) in |
| RAG1 | recombination activating 1 | Disease-causing germline mutation(s) in |
| RAG2 | recombination activating 2 | Disease-causing germline mutation(s) in |
| CHD7 | chromodomain helicase DNA binding protein 7 | Disease-causing germline mutation(s) in |
| DCLRE1C | DNA cross-link repair 1C | Disease-causing germline mutation(s) in |
| IL2RG | interleukin 2 receptor subunit gamma | Disease-causing germline mutation(s) in |
| RMRP | RNA component of mitochondrial RNA processing endoribonuclease | Disease-causing germline mutation(s) in |
| IL7R | interleukin 7 receptor | Disease-causing germline mutation(s) in |
| PSMB10 | proteasome 20S subunit beta 10 | Disease-causing germline mutation(s) in |
临床表型 28
极常见 99–80%8
- 淋巴细胞形态异常 HP:0004332
- 脱发 HP:0001596
- 慢性腹泻 HP:0002028
- 剥脱性皮炎 HP:0001019
- 发育迟滞 HP:0001508
- 肝脏肿大 HP:0002240
- 淋巴结肿大 HP:0002716
- 重症联合免疫缺陷 HP:0004430
常见 79–30%11
- 眉毛发育不全 HP:0100840
- 出生后皮肤剥脱 HP:0007549
- 干性皮肤 HP:0000958
- 水肿 HP:0000969
- 发热 HP:0001945
- 嗜酸性粒细胞增多症 HP:0001880
- 白细胞增多症 HP:0001974
- 肺炎 HP:0002090
- 瘙痒 HP:0000989
- 脾肿大 HP:0001744
- 皮肤增厚 HP:0001072
偶见 29–5%9
- 干骺端形态异常 HP:0000944
- 贫血 HP:0001903
- 自身免疫 HP:0002960
- 甲状腺功能减退症 HP:0000821
- 淋巴瘤 HP:0002665
- 肾病综合征 HP:0000100
- 脓毒症 HP:0100806
- 短趾 HP:0001831
- 甲状腺炎 HP:0100646
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）