Phenotypes associated with the disease renal cysts and diabetes syndrome (OMIM:137920):
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:137920)
- Atretic vas deferens (HP:0030997): Abnormal closure or blockage of the vas deferens. Evidence: TAS. (OMIM:137920)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: PCS. Frequency: 1/23. (PMID:15930087)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 1/23. (PMID:15930087)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. (OMIM:137920)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:137920)
- Pancreatic atrophy (HP:6000156): Wasting (shrinking) of the pancreas. Evidence: PCS. Frequency: 9/15. (PMID:16249435)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: TAS. (OMIM:137920)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: PCS. Frequency: Frequent (HP:0040282). Onset: Congenital onset (HP:0003577). (PMID:15930087)
- Abnormal renal morphology (HP:0012210): Any structural anomaly of the kidney. Evidence: PCS. Frequency: 2/23. (PMID:15930087)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:16249435)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: PCS. Frequency: 1/23. (PMID:15930087)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: PCS. (PMID:15930087)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: PCS. Frequency: 78/88. (PMID:15930087)
- Abnormality of alkaline phosphatase level (HP:0004379): An abnormality of alkaline phosphatase level. Evidence: PCS. Frequency: 4/7. (PMID:15930087)
- Epididymal cyst (HP:0030424): A smooth, extratesticular, spherical cyst in the head of the epididymis. Evidence: TAS. (OMIM:137920)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 1/23. (PMID:15930087)
- Abnormality of the genital system (HP:0000078): An abnormality of the genital system. Evidence: PCS. Frequency: 2/23. (PMID:15930087)
- Pancreatic hypoplasia (HP:0002594): Hypoplasia of the pancreas. Evidence: PCS. Frequency: 5/6. (PMID:15068978)
- Decreased numbers of nephrons (HP:0005563): A reduction in the count of nephrons per kidney. Evidence: TAS. (OMIM:137920)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: TAS. (OMIM:137920)
- Biliary tract abnormality (HP:0001080): An abnormality of the biliary tree. Evidence: PCS. (PMID:15930087)
- Impaired glucose tolerance (HP:0040270): An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. Evidence: IEA. (OMIM:137920)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:15930087)
- Multiple glomerular cysts (HP:0100611): The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. Evidence: PCS. Frequency: 4/23. (PMID:15930087)
- Exocrine pancreatic insufficiency (HP:0001738): Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. Evidence: PCS. Frequency: 6/7. (PMID:15068978)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 28/46. (PMID:15930087)
- Maturity-onset diabetes of the young (HP:0004904): The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells. Evidence: PCS. Frequency: 10/13. Onset: Adult onset (HP:0003581). (PMID:15068978)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. (OMIM:137920)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (OMIM:137920)
- Gout (HP:0001997): Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:15930087)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:15068978)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. (OMIM:137920)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:15930087)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:15930087)