Papillorenal Syndrome (PAPRS)

Papillorenal综合征(来自ICD-11)

别称:

Renal Coloboma Syndrome

Coloboma of Optic Nerve with Renal Disease

Optic Nerve Coloboma with Renal Disease

Renal-Coloboma Syndrome

Congenital Anomalies of the Kidney and Urinary Tract with or Without Ocular Abnormalities

Renal-Coloboma Syndrome with Macular Abnormalities

Cakut with or Without Ocular Abnormalities

Optic Coloboma, Vesicoureteral Reflux, and Renal Anomalies

Papillo-Renal Syndrome

Paprs

Papillo-Renal Syndrome, Optic Nerve Coloboma with Renal Disease

Optic Coloboma, Vesicoureteral Reflux and Renal Anomalies

Optic Coloboma Vesicoureteral Reflux and Renal Anomalies

Optic Nerve Coloboma Renal Syndrome

Coloboma-Ureteral-Renal Syndrome

Oncr

Rcs

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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

Papillorenal Syndrome, 也被称为肾缺损综合症，与局灶性节段性肾小球硬化和小肾症有关。与Papillorenal Syndrome相关的基因是PAX2（配对盒2），其相关通路/超级通路包括神经系统发育、胚胎和诱导多能干细胞和特异性标记物。在该疾病的背景下，已提到过Pembrolizumab和免疫检查点抑制剂。附属组织包括肾脏和眼睛，相关表型为肾功能不全和视神经发育不良。

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