Endogenous Cushing syndrome
ORPHA:641613疾病组暂无中文名
定义 英文原文（暂无中文）
A rare group of endocrine disorders caused by prolonged and high exposure levels to glucocorticoids of endogenous (adrenal cortex production) origin. Typical clinical features are truncal and facial obesity, hypercatabolic syndrome (thinned skin, purple striae, ecchymosis, bruising with no obvious trauma, proximal muscle weakness with amyotrophy, osteoporosis) and, in children, weight gain with decreasing growth velocity.
别名
Endogenous CS
相关基因 8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 |
|---|---|---|
| ARMC5 | armadillo repeat containing 5 | ORPHA:189427 |
| ATRX | ATRX chromatin remodeler | ORPHA:96253 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | ORPHA:96253 |
| GNAS | GNAS complex locus | ORPHA:189427 |
| NR3C1 | nuclear receptor subfamily 3 group C member 1 | ORPHA:96253 |
| TP53 | tumor protein p53 | ORPHA:96253 |
| USP48 | ubiquitin specific peptidase 48 | ORPHA:96253 |
| USP8 | ubiquitin specific peptidase 8 | ORPHA:96253 |
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）