loading...| Preferred Name |
Renal cysts and diabetes syndrome |
| Synonyms |
Maturity-onset diabetes of the young, type 5 |
| ID |
http://purl.bioontology.org/ontology/MESH/C535520 |
| altLabel |
Maturity-onset diabetes of the young, type 5 Glomerulocystic kidney disease, hypoplastic type Glomerulocystic kidney, familial hypoplastic Hyperuricemic nephropathy, familial juvenile, atypical |
| cui |
C0431693 |
| Has mapping qualifier | |
| HM |
D003743/Q000002 D003924 D002493 D052177 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D052177 http://purl.bioontology.org/ontology/MESH/D003924 |
| MDA |
20100825 |
| MeSH Frequency |
20 |
| MMR |
20150927 |
| notation |
C535520 |
| prefLabel |
Renal cysts and diabetes syndrome |
| SC |
3 |
| Scope Statement |
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 PELVIS, abnormal calyces, small kidney, single kidney, FUSED 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. Mutations in the HNF1B gene have been identified. OMIM: 137920 |
| TERMUI |
T736377 T736374 T736372 T736370 T736376 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |