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Renal cysts and diabetes syndrome MeSH Supplementary Concept Data 2023

MeSH Supplementary
Renal cysts and diabetes syndrome
Unique ID
RDF Unique Identifier
Entry Term(s)
Glomerulocystic kidney disease, hypoplastic type
Glomerulocystic kidney, familial hypoplastic
Hyperuricemic nephropathy, familial juvenile, atypical
Maturity-onset diabetes of the young, type 5
Registry Number
Heading Mapped to
*Central Nervous System Diseases
Dental Enamel / *abnormalities
*Diabetes Mellitus, Type 2
*Kidney Diseases, Cystic
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 of Entry
Revision Date
Renal cysts and diabetes syndrome Preferred
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