Maturity-onset diabetes of the young, type 5

Common Name(s)

Maturity-onset diabetes of the young, type 5, Familial hypoplastic, glomerulocystic kidney

The 'renal cysts and diabetes syndrome' is 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 pelvises, abnormal calyces, small kidney, single kidney, horseshoe 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 ({3:Bingham et al., 2001}; {7:Fajans et al., 2001}; {1:Bellanne-Chantelot et al., 2004}; {6:Edghill et al., 2006}). The renal abnormalities seen in the RCAD syndrome are part of a spectrum of malformations known as congenital anomalies of the kidney and urinary tract (CAKUT; see {610805}) (summary by {14:Nakayama et al., 2010}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Maturity-onset diabetes of the young, type 5" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function
 

Status: Recruiting

Condition Summary: Hepatocyte Nuclear Factor 1-Beta

 

Last Updated: 25 Sep 2008

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