Details of Disease

General Information of Disease (ID: DIS3L6GZ)

Disease Name Renal-hepatic-pancreatic dysplasia
Synonyms Renohepaticopancreatic dysplasia; Ivemark's syndrome; Ivemark II syndrome
Definition
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.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3L6GZ: Renal-hepatic-pancreatic dysplasia
Disease Identifiers
MONDO ID
MONDO_0017417
UMLS CUI
C2673883
MedGen ID
382215
Orphanet ID
294415
SNOMED CT ID
763891005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NEK8 TT8AH9I Supportive Autosomal recessive [1]
NEK8 TT8AH9I Strong Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEK8 OT8AD4JC Supportive Autosomal recessive [1]
NPHP3 OT8U8ELA Supportive Autosomal recessive [3]
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References

1 Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14.
2 Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.J Med Genet. 2016 May;53(5):338-47. doi: 10.1136/jmedgenet-2015-103469. Epub 2016 Feb 9.
3 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. J Mol Diagn. 2010 Jan;12(1):125-31. doi: 10.2353/jmoldx.2010.090033. Epub 2009 Dec 10.