SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. 19438883 2010
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease CLINVAR The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date. 18823382 2009
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease CLINVAR SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. 24398790 2014
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Recently, germline mutations of the BMPR1A (ALK3) gene were reported in JP cases without SMAD4 mutations. 12630959 2003
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS. 23599658 2013
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker disease BEFREE Our results confirm that SMAD4 is a gene predisposing to JP and suggest the existence of further JP loci other than the SMAD2, SMAD3, or SMAD7 genes. 10441006 1999
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors. 15014009 2004
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE We examined 29 patients with the clinical diagnosis of JPS for germline mutations in the MADH4 or BMPR1A genes and identified MADH4 mutations in seven (24%) and BMPR1A mutations in five patients (17%). 12136244 2002
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker disease BEFREE The Smad4 gene is genetically responsible for familial juvenile polyposis, an autosomal dominant disease characterized by predisposition to gastrointestinal polyps and cancer. 12821112 2003
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Our findings support that SMAD4 mutations carriers have symptoms of both HHT and JPS and that the frequency of PAVM and gastric involvement with polyps is higher than in patients with HHT or JPS not caused by a SMAD4 mutation. 26572829 2016
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder predisposing to gastrointestinal hamartomatous polyps and cancer with a pathogenic SMAD4 or BMPR1A germline mutation (1st-hit) being identified in about 40-50% of patients. 26171675 2015
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity? 22748914 2012
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker disease BEFREE Genetic analysis of the CDC73 gene [for Hyperparathyroidism-jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for Paraganglioma/Pheochromocytoma susceptibility, VHL for von Hippel-Lindau Syndrome, BMPR1A and SMAD4 for Juvenile Polyposis Syndrome (JPS) (sequencing and MLPA), karyotype and array CGH (44 K) were all normal. 23242522 2013
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119 2007
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709 2000
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR A total of 77 JP cases were sequenced for mutations in the MADH4, BMPR1A, BMPR1B, BMPR2, and/or ACVR1 (activin A receptor) genes. 15235019 2004
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Alternatively, because simultaneous disruption of both the PTEN and TGF-β/SMAD4 pathways is associated with development of esophageal cancer in a mouse model and because SMAD4 mutations cause gastrointestinal hamartomas in juvenile polyposis syndrome, the SMAD7 mutation may represent an additional modifier of these individuals' PTEN-mutant phenotype. 25554686 2015
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Pathogenic germline mutations in both the SMAD4 and BMPR1A genes involved in the transforming growth factor beta pathway account for 40% of cases of JPS. 17573831 2007
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping syndrome of HHT and juvenile polyposis (JPS).We present one such family. 20012952 2010
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Large genomic deletions of SMAD4, BMPR1A and PTEN are a common cause of JPS. 18178612 2008
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 23239472 2013
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Nine affected SMAD4 mutation-positive family members were screened and treated for manifestations of JPS. 22617360 2012
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504 2014
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006