非获得性联合垂体激素缺乏症
Non-acquired combined pituitary hormone deficiency
ORPHA:467疾病组
定义 英文原文（暂无中文）
A group of rare disorders characterized by multiple pituitary hormone deficiencies, including somatotropin, thyrotropin, lactotropin, corticotropin and gonadotropin deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Clinical presentation varies depending on the type and severity of the deficiencies as well as the age at diagnosis. If left untreated, the main symptoms include short stature, cognitive impairment and delayed puberty.
别名
先天性联合垂体激素缺乏症
基本事实
- 发病年龄
- 各年龄段
- 患病率
- 1-5 / 10 000（Europe）
相关基因 21来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| CDON | cell adhesion associated, oncogene regulated | ORPHA:280200 |
| CRIPTO | cripto, EGF-CFC family member | ORPHA:280200 |
| DISP1 | dispatched RND transporter family member 1 | ORPHA:280200 |
| DLL1 | delta like canonical Notch ligand 1 | ORPHA:280200 |
| FGF8 | fibroblast growth factor 8 | ORPHA:280200 |
| FOXH1 | forkhead box H1 | ORPHA:280200 |
| GAS1 | growth arrest specific 1 | ORPHA:280200 |
| GLI2 | GLI family zinc finger 2 | ORPHA:420584 |
| GLI3 | GLI family zinc finger 3 | ORPHA:672 |
| LHX4 | LIM homeobox 4 | ORPHA:85442 |
| NFKB2 | nuclear factor kappa B subunit 2 | ORPHA:293978 |
| NODAL | nodal growth differentiation factor | ORPHA:280200 |
| PLCH1 | phospholipase C eta 1 | ORPHA:93925 |
| PTCH1 | patched 1 | ORPHA:280200 |
| RBM28 | RNA binding motif protein 28 | ORPHA:157954 |
| SHH | sonic hedgehog signaling molecule | ORPHA:280200 |
| SIX3 | SIX homeobox 3 | ORPHA:280200 |
| STAG2 | STAG2 cohesin complex component | ORPHA:93925 |
| STIL | STIL centriolar assembly protein | ORPHA:93924 |
| TGIF1 | TGFB induced factor homeobox 1 | ORPHA:280200 |
| ZIC2 | Zic family zinc finger 2 | ORPHA:280200 |
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）