联合免疫缺陷病-肠病谱
Combined immunodeficiency-multiple intestinal atresia
定义 英文原文（暂无中文）
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
别名
CID-MIA/早发性 IBD
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TTC7A | tetratricopeptide repeat domain 7A | Disease-causing germline mutation(s) (loss of function) in |
| PI4KA | phosphatidylinositol 4-kinase alpha | Disease-causing germline mutation(s) in |
临床表型 30
极常见 99–80%4
- 异位钙化 HP:0010766
- 消化道闭锁 HP:0002589
- 肠闭锁 HP:0011100
- 重症联合免疫缺陷 HP:0004430
常见 79–30%8
- 腹胀 HP:0003270
- 眉毛缺失 HP:0002223
- 便血 HP:0025085
- 免疫缺陷 HP:0002721
- 胎儿宫内发育迟缓 HP:0001511
- 空回肠溃疡 HP:0005229
- 羊水过多 HP:0001561
- 毛发稀疏 HP:0008070
偶见 29–5%8
- 胆总管形态异常 HP:0100889
- 头皮脱发 HP:0002293
- 胸腺发育不全 HP:0000778
- 肠旋转不良 HP:0002566
- 腹膜脓肿 HP:0100592
- 直肠脓肿 HP:0005224
- 反复脓肿形成 HP:0002722
- 皮肤增厚 HP:0001072
罕见 <4–1%10
- 自身免疫性溶血性贫血 HP:0001890
- 自身免疫 HP:0002960
- 先天性肺气道畸形 HP:0010959
- 桥本甲状腺炎 HP:0000872
- 肝炎 HP:0012115
- 甲营养不良 HP:0008404
- 脐膨出 HP:0001539
- 银屑病样皮炎 HP:0003765
- 1型糖尿病 HP:0100651
- 室间隔缺损 HP:0001629
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）