loading...| Preferred Name |
renal cysts and diabetes syndrome |
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| Synonyms |
HNF1B-MODY RCAD renal cysts and diabetes syndrome renal cysts-maturity-onset diabetes of the young syndrome RCAD syndrome atypical familial juvenile hyperuricemic nephropathy hepatocyte nuclear Factor 1-beta-associated monogenic diabetes hypoplastic type glomerulocystic kidney disease familial hypoplastic glomerulocystic kidney maturity onset diabetes of the Young, type 5 MODY5 atypical FJHN renal dysfunction-early-onset diabetes syndrome CAKUT with diabetes HNF1B-related renal cysts and diabetes syndrome congenital anomalies of the kidney and urinary tract with diabetes glomerulocystic kidney disease, hypoplastic type glomerulocystic kidney, familial hypoplastic maturity-onset diabetes of the young type 5 FJHN atypical MODY type 5 maturity-onset diabetes of the Young, type 5 FJHN, atypical hyperuricemic nephropathy, familial juvenile, atypical |
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| Definitions |
Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007669 |
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| database_cross_reference |
NCIT:C123018 GARD:0010221 UMLS:C0431693 UMLS:CN206512 MESH:C535520 DOID:0111101 SCTID:446641003 ICD10:E11.2 Orphanet:93111 OMIM:137920 |
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| disease has basis in dysfunction of | ||
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0111101 http://linkedlifedata.com/resource/umls/id/C2959918 http://identifiers.org/snomedct/446641003 http://www.orpha.net/ORDO/Orphanet_93111 http://identifiers.org/omim/137920 http://identifiers.org/mesh/C535520 http://linkedlifedata.com/resource/umls/id/C0431693 |
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| has exact synonym |
HNF1B-MODY RCAD renal cysts and diabetes syndrome renal cysts-maturity-onset diabetes of the young syndrome RCAD syndrome atypical familial juvenile hyperuricemic nephropathy hepatocyte nuclear Factor 1-beta-associated monogenic diabetes hypoplastic type glomerulocystic kidney disease familial hypoplastic glomerulocystic kidney maturity onset diabetes of the Young, type 5 MODY5 atypical FJHN renal dysfunction-early-onset diabetes syndrome CAKUT with diabetes HNF1B-related renal cysts and diabetes syndrome congenital anomalies of the kidney and urinary tract with diabetes |
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| has related synonym |
glomerulocystic kidney disease, hypoplastic type glomerulocystic kidney, familial hypoplastic maturity-onset diabetes of the young type 5 FJHN atypical MODY type 5 maturity-onset diabetes of the Young, type 5 FJHN, atypical hyperuricemic nephropathy, familial juvenile, atypical |
|
| id |
MONDO:0007669 |
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| imported from | ||
| in_subset | ||
| label |
renal cysts and diabetes syndrome |
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| notation |
MONDO:0007669 |
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| prefLabel |
renal cysts and diabetes syndrome |
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| see also |
https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 |
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| textual definition |
Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018911 http://purl.obolibrary.org/obo/MONDO_0015620 |