Disease: Juvenile polyposis syndrome ×
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 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 ChromosomalRearrangement disease ORPHANET Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. 16685657 2006
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease CLINVAR Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. 16525031 2006
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis. 20843829 2010
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation 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 BEFREE Microdeletions of one of the two predisposing genes to JP, BMPR1A, have been associated with a severe form of JP called juvenile polyposis of infancy. 21834858 2012
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease CLINVAR Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. 11536076 2001
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker disease BEFREE In order to determine whether BMPR1A could be involved in the development of JP, we screened all five patients using denaturing high-performance liquid chromatography (DHPLC) analysis. 12630959 2003
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE This is the first case report to document coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome. 25129392 2014
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Bone morphogenetic protein (BMP) receptor type 1A (BMPR1A) mutations are associated with facial dysmorphism, which is one of the main clinical signs in both juvenile polyposis and chromosome 10q23 deletion syndromes. 22773757 2012
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE In both CRCs, MSI and MSS, we found somatic mutations in the intracellular kinase domain of bone morphogenetic protein receptor 1A, BMPR1A, a gene where so far germline mutations are associated with juvenile polyposis syndrome, and show that the mutations functionally impair the protein function. 21203531 2010
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE In addition to this syndrome, gastric cancer risk is elevated in Lynch syndrome associated with germline mutations in DNA mismatch repair genes and microsatellite instability, in hereditary breast and ovarian cancer syndrome due to germline BRCA1 and BRCA2 mutations, in familial adenomatous polyposis caused by germline APC mutations, in Li-Fraumeni syndrome due to germline p53 mutations, in Peutz-Jeghers syndrome associated with germline STK11 mutations, and in juvenile polyposis syndrome associated with germline mutations in the SMAD4 and BMPR1A genes. 22846738 2013
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease UNIPROT Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. 11536076 2001
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 11381269 2001
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A. 12417513 2002
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 CTD_human
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the bone morphogenetic protein receptor type 1A (BMPR1A) are known to predispose to JP. 23433720 2013
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 CausalMutation disease CLINVAR BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. 22067610 2012
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker disease CLINGEN DNA analysis for BMPR1A was performed on a patient with juvenile polyposis syndrome. 17325551 2007
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 ChromosomalRearrangement disease ORPHANET Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach. 23331837 2013
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GeneticVariation disease BEFREE This study evaluated the differential impact of SMAD4 and BMPR1A gene mutations on cancer risk and oncological phenotype in patients with juvenile polyposis syndrome. 25389115 2015
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