A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. [ https://orcid.org/0000-0001-5208-3432 Orphanet:294415 ]
Synonyms: Renohepaticopancreatic dysplasia Ivemark II syndrome Ivemark's syndrome
Term information
- UMLS:C2673883 (Orphanet:294415)
- Orphanet:294415 (MONDO:equivalentTo)
- GARD:17356 (Orphanet:294415)
- SCTID:763891005 (MONDO:equivalentTo)
- DOID:0060259 (MONDO:equivalentTo)
- OMIMPS:208540 (MONDO:equivalentTo)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://purl.obolibrary.org/obo/DOID_0060259
http://identifiers.org/snomedct/763891005
http://www.orpha.net/ORDO/Orphanet_294415
http://linkedlifedata.com/resource/umls/id/C2673883
https://omim.org/phenotypicSeries/PS208540
http://purl.obolibrary.org/obo/MONDO_0015214
http://purl.obolibrary.org/obo/MONDO_0019741