Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (GCKDHI)

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OMIM 57 609886 MedGen 42 C1835934

MeSH 44 D052177 SNOMED-CT via HPO 69 263681008 236423003 42399005 35885006 more

OMIM : ⁵⁷ Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal convoluted tubule. Both sporadic and familial occurrences have been observed. Sharp et al. (1997) noted that GCKD had primarily been recognized in infants with a family history of classic, autosomal dominant polycystic kidney disease (PKD). However, dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. Hypoplastic GCKD has been identified in some families with mutations in the TCF2 gene (189907) as part of the clinical phenotype of renal cysts and diabetes syndrome (137920). (609886)

MalaCards based summary : Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria, is also known as kidney disease, glomerulocystic, with hyperuricemia and isosthenuria. An important gene associated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is UMOD (Uromodulin). Affiliated tissues include kidney, and related phenotypes are renal insufficiency and hyperuricemia

UniProtKB/Swiss-Prot : ⁷⁵ Glomerulocystic kidney disease with hyperuricemia and isosthenuria: A renal disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due to low fractional excretion of uric acid and severe impairment of urine concentrating ability.

Clinical features from OMIM:

609886

Search Clinical Trials , NIH Clinical Center for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Search GEO for disease gene expression data for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria.