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Wolcott-Rallison syndrome

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
Uniprot Description A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, mental retardation and cardiovascular abnormalities.
Disease Ontology Description A characterized by autosomal recessive inheritance of permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the EIF2AK3 gene on chromosome 2p11.2.
Mondo Term and Equivalent IDs
MONDO:0009192:  Wolcott-Rallison syndrome
GARD:0005589: 
MESH:C536739: 
NCIT:C131007: 
Orphanet:1667: 
SCTID:254066006: 
UMLS:C0432217: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)