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renal cysts and diabetes syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.
Uniprot Description An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and 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 (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.
Mondo Term and Equivalent IDs
MONDO:0007669:  renal cysts and diabetes syndrome
GARD:0010221: 
MESH:C535520: 
NCIT:C123018: 
Orphanet:93111: 
SCTID:446641003: 
UMLS:C0431693: 
UMLS:CN206512: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found