Disease: Renal Cysts And Diabetes Syndrome

Name Renal Cysts And Diabetes Syndrome

Synonyms CAKUT WITH DIABETES , CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES , FJHN, ATYPICAL , GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE , GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC , HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL , MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5; MODY5

Classification developmental, endocrine, genetic, renal

Phenotypes Abnormality of alkaline phosphatase activity; Atretic vas deferens; Autosomal dominant inheritance; Bicornuate uterus; Biliary tract abnormality; Cerebral cortical atrophy; Decreased numbers of nephrons; Elevated hepatic transaminase; Elevated serum creatinine; Epididymal cyst; Exocrine pancreatic insufficiency; Glycosuria; Gout; Hyperuricemia; Hypoplasia of the uterus; Hypospadias; Impaired glucose tolerance; Maturity-onset diabetes of the young; Multiple glomerular cysts; Nephrolithiasis; Pancreatic hypoplasia; Proteinuria; Reduced sperm motility; Renal cyst; Renal hypoplasia; Stage 5 chronic kidney disease; Unilateral renal agenesis; Ureteropelvic junction obstruction

Associated Genes HNF1B (Withdrawn symbols: HNF1beta, LFB3, MODY5, TCF2, VHNF1 )

Mouse Orthologs Hnf1b (Withdrawn symbols: AI385728, AI987804, Tcf-2, Tcf2 )

Source OMIM:137920 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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