CADINS disease
ORPHA:619972疾病暂无中文名
定义 英文原文（暂无中文）
A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition.
别名
CARD11-associated atopy with dominant interference of NF-kB signaling syndrome
基本事实
- 遗传方式
- 常染色体显性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CARD11 | caspase recruitment domain family member 11 | Disease-causing germline mutation(s) (loss of function) in |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）