Combined immunodeficiency due to TBX1 mutation
定义 英文原文（暂无中文）
A rare combined immunodeficiency characterized by velo-cardio-facial gestalt (short and narrow palpebral fissures, tubulous nose, small mouth, micrognathia, low-set ears, flattened malar eminences, broad cheeks), congenital heart defect, abnormal thymus and parathyroid, and velopharyngeal insufficiency. Short stature and psychiatric disorders may also present. Developmental and speech delay were reported in few patients. Even though patients carrying TBX1 mutations may manifest clinical features that are overlapping with 22q11.2 deletion syndrome, the presence and frequency of these symptoms significantly differs; not all patients with TBX1 mutations have congenital heart defect, hypocalcemia, psychiatric disorders or developmental delay contrary to 22q11.2 deletion syndrome patients where these features are commonly present.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TBX1 | T-box transcription factor 1 | Disease-causing germline mutation(s) 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）