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40 Possible Causes for Hypoplastic Glomerulocystic Kidney Disease

  • Renal Cysts and Diabetes Syndrome

    DISEASE, HYPOPLASTIC TYPE, GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE[mousephenotype.org] Mutations in the hepatocyte nuclear factor-1 beta gene are associated with familial hypoplastic glomerulocystic kidney disease.[medicine.exeter.ac.uk] (66% of cases) although the most specific phenotype is familial hypoplastic glomerulocystic kidney disease. 8,10,11 Renal cysts generally predate diabetes and can be found[bjd-abcd.com]

  • Maturity-Onset Diabetes of the Young

    Kidney Disease, Hypoplastic Type Glomerulocystic Kidney, Familial Hypoplastic Hyperuricemic Nephropathy, Familial Juvenile, Atypical Maturity-Onset Diabetes Of The Young,[ukgtn.nhs.uk] J Clin Endocrinol Metab 87 : 3859 – 3863 15 2002 De novo HNF-1β gene mutation in familial hypoplastic glomerulocystic kidney disease.[doi.org] Alvelos MI, Rodrigues M, Lobo L, Medeira A, Sousa AB, Simão C, Lemos MC: A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and[karger.com]

  • Central Nervous System Cyst

    De novo HNF-1β gene mutation in familial hypoplastic glomerulocystic kidney disease . Pediatr. Nephrol. 17 , 1021–1026 (2002). 57. Sagen, J.[nature.com] Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease . Am. J. Hum. Genet. 68 , 219–224 (2001). 6.[nature.com] Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases . Clin. J. Am. Soc. Nephrol. 5 , 1079–1090 (2010). 5. Bingham, C. et al .[nature.com]

  • Mayer Rokitansky Kuster Hauser Syndrome

    Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.[ncbi.nlm.nih.gov] glomerulocystic kidney disease.[doi.org] Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT: Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic[doi.org]

  • Solitary Renal Cyst

    Glomerulocystic kidney disease The kidneys appear either hypoplastic or normal in size on sonography and maintain their reniform shape.[homeopathyworldcommunity.ning.com]

  • Carrington Syndrome

    glomerulocystic kidney disease.[ojrd.biomedcentral.com] Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.[ncbi.nlm.nih.gov] Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT: Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic[ojrd.biomedcentral.com]

  • Bicornuate Uterus

    Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 2001; 68: 219-24. 15.[caribbean.scielo.org]

  • Glycogen Storage Disease Type 1

    kidney disease, hypoplastic type, glomerulocystic kidney, familial hypoplastic, congenital anomalies of the kidney and urinary tract with diabetes, cakut with diabetes;hnf1b-mody[mendelian.co] AND DIABETES SYNDROME; RCAD Is also known as maturity-onset diabetes of the young, type 5;mody5, hyperuricemic nephropathy, familial juvenile, atypical, fjhn, atypical, glomerulocystic[mendelian.co]

  • Senior Loken Syndrome

    kidney disease, hypoplastic type, glomerulocystic kidney, familial hypoplastic, congenital anomalies of the kidney and urinary tract with diabetes, cakut with diabetes;hnf1b-mody[mendelian.co] AND DIABETES SYNDROME; RCAD Is also known as maturity-onset diabetes of the young, type 5;mody5, hyperuricemic nephropathy, familial juvenile, atypical, fjhn, atypical, glomerulocystic[mendelian.co]

  • Other Specified Osteochondrodysplasias

    We report a case of concomitant hypoplastic glomerulocystic kidney disease and hepatoblastoma.[profiles.stanford.edu] T. 2009 ; 31 (7) : 527-529 Abstract Hypoplastic glomerulocystic kidney disease is an autosomal dominant disorder caused by mutations in hepatocyte nuclear factor-1beta.[profiles.stanford.edu] View details for DOI 10.1038/ejhg.2009.18 View details for Web of Science ID 000269449900004 View details for PubMedID 19277064 Hypoplastic Glomerulocystic Kidney Disease[profiles.stanford.edu]

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