Renal cysts and diabetes syndrome

Preferred Label : Renal cysts and diabetes syndrome;

Symbol : RCAD;

CISMeF acronym : MODY5; RCAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital anomalies of the kidney and urinary tract with diabetes; Cakut with diabetes; MODY5; Hyperuricemic nephropathy, familial juvenile, atypical; Glomerulocystic kidney disease, hypoplastic type; Maturity-onset diabetes of the young, type 5; Glomerulocystic kidney, familial hypoplastic; Fjhn, atypical; Tubulointerstitial kidney disease, autosomal dominant, 3; ADTKD3;

Description : The 'renal cysts and diabetes syndrome' is an autosomal dominant disorder comprising (1) nondiabetic renal disease resulting from abnormal renal development, and (2) 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 (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvises, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract, including vaginal aplasia, rudimentary uterus, bicornuate uterus, epididymal cysts, and atresia of the vas deferens (Bingham et al., 2001; Fajans et al., 2001; Bellanne-Chantelot et al., 2004; Edghill et al., 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the hepatocyte nuclear factor-1-beta gene (TCF2, 189907.0001);

Laboratory abnormalities : Glucosuria; Proteinuria; Increased serum creatinine; Hyperuricemia;

Prefixed ID : #137920;

Details

Origin ID

137920;

UMLS CUI

C0431693;

Automatic exact mappings (from CISMeF team)
- CDH4 wt Allele [NCIt concept]
- Cadherin-4 [NCIt concept]
- HNF1 homeobox B [ORDO Gene]
- HNF1B wt Allele [NCIt concept]
- MODY 5 syndrome [ICD-11 More detail]
- Renal Cysts and Diabetes Syndrome [NCIt concept]
- Renal cysts and diabetes syndrome (disorder) [Inactive SNOMED CT concept]
- UFM1 specific ligase 1 [HGNC gene]
Currated CISMeF NLP mapping
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Maturity-onset diabetes of the young, type 5 (disorder) [SNOMED CT concept]
- Renal cysts and diabetes syndrome [MeSH concept]
- maturity onset diabetes of the young type 5 [Disease (Nov.)]
- maturity-onset diabetes of the young type 5 [DO Concept]
- renal cysts and diabetes syndrome [MeSH Supplementary Concept]
DO Cross reference
- maturity-onset diabetes of the young type 5 [DO Concept]
False automatic mappings
- Familial hypoplastic, glomerulocystic kidney (disorder) [SNOMED CT concept]
Genes related to phenotype
- Hnf1 homeobox b [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Abnormal renal morphology [HPO term]
- Abnormality of alkaline phosphatase level [HPO term]
- Abnormality of the genital system [HPO term]
- Abnormality of the kidney [HPO term]
- Atretic vas deferens [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Biliary tract abnormality [HPO term]
- Cerebral cortical atrophy [HPO term]
- Chronic renal failure [HPO term]
- Decreased numbers of nephrons [HPO term]
- Diabetes mellitus [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Epididymal cyst [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Glucose intolerance [HPO term]
- Glycosuria [HPO term]
- Gout [HPO term]
- Hyperuricemia [HPO term]
- Hypoplasia of the uterus [HPO term]
- Hypospadias [HPO term]
- Impaired glucose tolerance [HPO term]
- Kidney malformation [HPO term]
- Maturity-onset diabetes of the young [HPO term]
- Multiple glomerular cysts [HPO term]
- Nephrolithiasis [HPO term]
- Pancreatic hypoplasia [HPO term]
- Proteinuria [HPO term]
- Reduced sperm motility [HPO term]
- Renal cyst [HPO term]
- Renal hypoplasia [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Unilateral renal agenesis [HPO term]
- Ureteropelvic junction obstruction [HPO term]
- Variable age at onset [HPO term]
- obsolete Glucose intolerance [HPO term]
Not associated HPO term(s)
- Obesity [HPO term]
ORDO concept(s)
- Autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypoplastic, glomerulocystic kidney (disorder) [SNOMED CT concept]
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Maturity-onset diabetes of the young, type 5 (disorder) [SNOMED CT concept]
- Renal Cysts and Diabetes Syndrome [NCIt concept]
- Renal cysts and diabetes syndrome [MeSH concept]
- Renal cysts and diabetes syndrome (disorder) [Inactive SNOMED CT concept]
- maturity onset diabetes of the young type 5 [Disease (Nov.)]
- maturity-onset diabetes of the young type 5 [DO Concept]
- renal cysts and diabetes syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients