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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Pigmented Nodular Adrenocortical Disease, Primary, 1 (PPNAD1)
Alias:
Ppnad1
Adrenocortical Disease, Nodular, Pigmented, Primary, Type 1
Pigmented Micronodular Adrenocortical Disease, Primary, 1
Primary Pigmented Micronodular Adrenocortical Disease 1
Primary Pigmented Nodular Adrenocortical Disease 1
Primary Pigmented Nodular Adrenocortical Disease-1
Adrenocortical Nodular Dysplasia, Primary
Cushing Syndrome, Adrenal, Due to Ppnad1
Nodular Primary Adrenocortical Dysplasia
Adrenal Cushing Syndrome Due to Ppnad1
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
色素性结节性肾上腺皮质病,原发性,1型,也称为ppnad1,与原发性色素性结节性肾上腺皮质病和嗜碱性腺瘤有关,症状包括焦虑。与色素性结节性肾上腺皮质病,原发性,1型相关的基因是PRKAR1A(蛋白激酶CAMP依赖型I调节亚基α),其相关通路/超级通路包括β肾上腺素能信号通路和NFAT和心脏肥大。附属组织包括皮质和骨,相关表型为循环皮质醇水平升高和尿皮质醇水平升高。
Related ID:
MALACARDS:PGM021
OMIM:610489
MESH:D003480
Basic Information
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MALACARDS
常显
未知
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2
31
21
PGM021
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