Renal Cysts and Diabetes Syndrome (RCAD)

Alias:
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。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
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32
307
112

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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