Disease: Wolcott-Rallison syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Wolcott-Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report. 30906465 2019
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Wolcott-Rallison syndrome (WRS) is caused by a biallelic mutation in the gene encoding eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3) on chromosome 2p11.2. 30922274 2019
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. 25659842 2015
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Our findings support the concept that dysregulated eIF2α phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome or increased by mutation of the phosphatase (PPP1R15B), is deleterious to β-cells and other secretory tissues, resulting in diabetes associated with multisystem abnormalities. 26159176 2015
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 CausalMutation disease CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome. 24168455 2014
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Wolcott-Rallison syndrome (WRS) is a very rare genetic disorder, which is transmitted by autosomal recessive inheritance and results from mutations in the gene encoding the eukaryotic initiation factor 2-α kinase-3 (EIF2AK3). 24859506 2014
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE A 3 year old patient with NDM diagnosed at 3 months of age, who previously tested negative for INS, KCNJ11 and ABCC8 mutations, was found to carry a novel homozygous mutation in EIF2AK3 (associated with Wolcott-Rallison syndrome), a gene not previously suspected because consanguinity, delayed growth, abnormal bone development and hepatic complications had not been reported. 25306193 2014
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Background Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis. 28156240 2013
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis. 23759358 2013
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation. 23585173 2013
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE On reevaluation, further investigation revealed an EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made. 23644647 2013
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene. 22672868 2012
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome. 21518408 2011
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE A novel EIF2AK3 mutation leading to Wolcott-Rallison syndrome in a Chinese child. 21648287 2011
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Loss-of-function mutations in Perk (EIF2AK3) result in permanent neonatal diabetes in humans (Wolcott-Rallison Syndrome) and mice. 20530744 2010
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. 20202148 2010
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GermlineCausalMutation disease ORPHANET Wolcott-Rallison syndrome. 21050479 2010
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. 19837917 2009
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Mutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. 19837917 2009
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 Biomarker disease MGD PERK eIF2 alpha kinase is required to regulate the viability of the exocrine pancreas in mice. 17727724 2007
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome. 16813601 2006
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Mutations in PERK (EIF2AK3) result in permanent neonatal diabetes as well as several other anomalies that underlie the human Wolcott-Rallison syndrome, and these anomalies are mirrored in Perk knockout mice. 17141632 2006
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Retrospective case notes review of three children presenting to the diabetic unit at our institution; mutation analysis of the EIF2AK3 gene in our most recent patient; and review of the literature on Wolcott-Rallison syndrome. 15384883 2004
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the EIF2AK3 gene underlie susceptibility to the Wolcott-Rallison syndrome, which is a monogenic disease associated with insulin-deficient neonatal diabetes. 15483661 2004