Isolated primary pigmented nodular adrenocortical disease
ORPHA:647772疾病暂无中文名
定义 英文原文（暂无中文）
A rare adrenocortical nodular disease characterized by increased to normal sized adrenal glands containing multiple small (less than 1 cm in diameter) cortical pigmented (lipofuscin) nodules, surrounded by internodular adrenocortical atrophy. It is typically associated with the development of a form of adrenal Cushing syndrome (CS). Rarely, it has been associated with adrenal macronodules.
别名
Isolated PPNAD、i-PPNAD
基本事实
- 遗传方式
- 常染色体显性
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PRKAR1A | protein kinase cAMP-dependent type I regulatory subunit alpha | Disease-causing germline mutation(s) in |
| PDE11A | phosphodiesterase 11A | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:610475OMIM:610489MONDO:0958262MONDO:958262ICD-10 E24.8ICD-11 5A70.YClinicalTrials.gov 检索
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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）