Renal cysts and diabetes syndrome

An autosomal dominant disorder comprising (1) nondiabetic renal disease resulting from abnormal renal development, and (2) diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged RENAL PELVIS, abnormal calyces, small kidney, single kidney, FUSED KIDNEY, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract, including vaginal aplasia, rudimentary uterus, bicornuate uterus, epididymal cysts, and atresia of the vas deferens. Mutations in the HNF1B gene have been identified. OMIM: 137920

Also Known As:

Networked: 31 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Diabetes Mellitus
2.	Type 2 Diabetes Mellitus (MODY)
3.	Autosomal Dominant Polycystic Kidney (ADPKD)
4.	Nail-Patella Syndrome (Syndrome, Nail-Patella)
5.	Kidney Diseases (Kidney Disease)

Experts

1.	Hiesberger, Thomas: 3 articles (12/2007 - 03/2004)
2.	Igarashi, Peter: 3 articles (12/2007 - 03/2004)
3.	Bellanné-Chantelot, Christine: 3 articles (07/2007 - 04/2004)
4.	Clauin, Séverine: 3 articles (07/2007 - 04/2004)
5.	Timsit, José: 3 articles (07/2007 - 04/2004)
6.	Bingham, Coralie: 3 articles (11/2004 - 10/2001)
7.	Chujo, Daisuke: 2 articles (08/2020 - 12/2019)
8.	Lebl, Jan: 2 articles (02/2015 - 09/2014)
9.	Halbritter, Jan: 2 articles (10/2011 - 03/2008)
10.	Mayer, Christof: 2 articles (10/2011 - 03/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Renal cysts and diabetes syndrome:

1.	Hepatocyte Nuclear Factor 1-betaIBA 12/25/2019 - "We report a sporadic case of maturity-onset diabetes of the young type 5 (MODY5) with a whole-gene deletion of the hepatocyte nuclear factor-1beta (HNF1B) gene. " 04/01/2014 - "Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. " 03/01/2008 - "Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene." 12/01/2007 - "Maturity-onset diabetes of the young type 5 (MODY5) is caused by mutation of hepatocyte nuclear factor 1beta (HNF1 beta) (TCF2) gene, resulting in a wide range of phenotypes including diabetes and renal abnormalities, but little is known about the pathogenesis of the clinical spectrum. " 11/01/2005 - "Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5."
2.	Hepatocyte Nuclear FactorsIBA 07/01/2023 - "Maturity-onset diabetes of the young type 5 (MODY5) is caused by a hepatocyte nuclear factor 1β (HNF1β) gene mutation on chromosome 17q12. " 10/06/2021 - "Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report." 09/01/2019 - "Hepatocyte nuclear factor 1β (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). " 01/01/2019 - "Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. " 01/01/2016 - "The hepatocyte nuclear factor 1β gene (HNF1B) is responsible for maturity-onset diabetes of the young type 5 (MODY5), which is characterized by early-onset diabetes mellitus and urogenital malformations. "
3.	Hepatocyte Nuclear Factor 1IBA 01/01/2021 - "Renal cysts and diabetes syndrome (RCAD) is caused by gene mutations in hepatocyte nuclear factor 1-β (HNF1B), but the underlying molecular mechanism is still unclear. " 09/01/2020 - "To report 2 patients with haploinsufficiency of hepatic nuclear factor 1 homeobox B (HNF1B) that results in the onset of maturity onset diabetes of the young type 5 (MODY5) before 3 years of age. " 10/01/2018 - "Maturity-onset diabetes of the young type 5 (MODY5) is caused by mutations of the hepatocyte nuclear factor 1 homeobox β gene (HNF1B). " 02/28/2015 - "Hepatocyte nuclear factor 1-β (HNF1B) defects cause renal cysts and diabetes syndrome (RCAD), or HNF1B-maturity-onset diabetes of the young. "
4.	Transcription Factors (Transcription Factor)IBA 09/01/2014 - "The renal cysts and diabetes syndrome (RCAD), also known as HNF1B-MODYor MODY5, is caused by the deletion or point mutation of HNF1B gene which leads to the depletion of HNF1B transcription factor. " 07/01/2007 - "Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5." 03/01/2008 - "Mutations in the gene encoding the transcription factor hepatocyte nuclear factor (HNF) 1beta cause various phenotypes including maturity-onset diabetes of the young type 5 (MODY5) and kidney disease. "
5.	NFI Transcription FactorsIBA 05/01/2004 - "Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome." 08/01/2002 - "Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement."
6.	UromodulinIBA 06/01/2010 - "The following disorders are discussed by mode of inheritance: 1) Autosomal dominant: autosomal dominant polycystic kidney disease, nephropathies associated with uromodulin (medullary cystic disease and familial juvenile hyperuricemic nephropathy), renal cysts and diabetes syndrome, nail-patella syndrome, glomerulopathy with fibronectin deposits. "
7.	ProteomeIBA 01/01/2019 - "Urinary proteome signature of Renal Cysts and Diabetes syndrome in children."
8.	Proteins (Proteins, Gene)FDA Link 04/06/2004 - "Maturity-onset diabetes of the young type 5 (MODY5), a type of dominantly inherited diabetes mellitus and nephropathy, has been associated with mutations of the hepatocyte nuclear factor-1beta (HNF-1beta) gene, mostly generating truncated protein. "
9.	EnzymesIBA 10/01/2023 - "Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)."
10.	Glucagon-Like Peptide-1 ReceptorIBA 08/28/2020 - "Maturity-Onset diabetes of the young type 5 treated with the glucagon-like peptide-1 receptor agonist: A case report."

Therapies and Procedures

1.	Kidney Transplantation 10/27/2011 - "Successful simultaneous pancreas kidney transplantation in maturity-onset diabetes of the young type 5."