Renal cysts and diabetes syndrome [Supplementary Concept]
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
Date introduced: August 25, 2010
MeSH Unique ID: C535520
Heading Mapped to:
Entry Terms:
- Glomerulocystic kidney, familial hypoplastic
- Glomerulocystic kidney disease, hypoplastic type
- Maturity-onset diabetes of the young, type 5
- Hyperuricemic nephropathy, familial juvenile, atypical