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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Renal Cysts and Diabetes Syndrome, also known as maturity-onset diabetes of the young type 5, is related to chromosome 17q12 duplication syndrome and chromosome 17q12 deletion syndrome. An important gene associated with Renal Cysts and Diabetes Syndrome is HNF1B (HNF1 Homeobox B), and among its related pathways/superpathways are Nervous system development and Glucose / Energy Metabolism. Affiliated tissues include kidney and uterus, and related phenotypes are renal insufficiency and multicystic kidney dysplasia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
--
32
307
112

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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