Renal Cysts and Diabetes Syndrome (RCAD)

肾囊肿-糖尿病综合征(来自ICD-11)

别称:

Maturity-Onset Diabetes of the Young Type 5

Mody5

Congenital Anomalies of the Kidney and Urinary Tract with Diabetes

Cakut with Diabetes

Rcad

Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

Atypical Familial Juvenile Hyperuricemic Nephropathy

Familial Hypoplastic Glomerulocystic Kidney

Atypical Fjhn

Adtkd3

Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease

Hyperuricemic Nephropathy, Familial Juvenile, Atypical

Glomerulocystic Kidney Disease, Hypoplastic Type

Hypoplastic Type Glomerulocystic Kidney Disease

Renal Dysfunction-Early-Onset Diabetes Syndrome

Glomerulocystic Kidney Disease Hypoplastic Type

Maturity-Onset Diabetes of the Young, Type 5

Glomerulocystic Kidney, Familial Hypoplastic

Renal-Diabetes Mody5 Syndrome

Hnf1b-Related Nephropathy

Fjhn, Atypical

Rcad Syndrome

Adtkd-Hnf1b

Hnf1b-Mody

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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

肾囊肿和糖尿病综合征，也称为青少年型 5 型糖尿病，与 17q12 复制综合征和 17q12 缺失综合征有关。与肾囊肿和糖尿病综合征有关的重要基因是 HNF1B（HNF1 家族盒 B），其相关通路/超通路包括神经系统发育和葡萄糖/能量代谢。附属组织包括肾脏和子宫，相关表型包括肾功能不全和多囊肾发育不良。

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