eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| juvenile polyposis syndrome | ||||
| Disease ID | 236 |
|---|---|
| Disease | juvenile polyposis syndrome |
| Definition | An autosomal dominant hereditary neoplastic syndrome. Mutations in the SMAD4 or BMPR1A genes have been identified in the majority of patients. It is characterized by the presence of multiple juvenile polyps in the gastrointestinal tract. |
| Synonym | jip jps juvenile intestinal polyposis juvenile multiple polyps syndrome juvenile polyposis juvenile polyposis of infancy juvenile polyposis of intestine juvenile polyposis syndrome (disorder) juvenile polyposis, infantile pji polyposis, familial, of entire gastrointestinal tract polyposis, juvenile intestinal |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0345893 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0002871 | anemia | 1 C0685938 | gastrointestinal cancer | 1 C0010635 | mucinous cystadenoma | 1 C0033680 | protein losing enteropathy | 1 C0021831 | enteropathy | 1 C0024623 | gastric cancer | 1 C0014848 | achalasia | 1 C0039445 | hereditary hemorrhagic telangiectasia | 1 C0346169 | cystadenoma of ovary | 1 C0031269 | peutz-jeghers syndrome | 1 C0039446 | telangiectasia | 1 C0017155 | menetrier's disease | 1 C0010633 | cystadenoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 650 | BMP2 | 1.716 | DISEASES 659 | BMPR2 | 1.359 | DISEASES 79577 | CDC73 | 1.354 | DISEASES 1499 | CTNNB1 | 1.697 | DISEASES 1994 | ELAVL1 | 1.393 | DISEASES 2200 | FBN1 | 1.975 | DISEASES 56704 | JPH1 | 2.716 | DISEASES 54900 | LAX1 | 1.453 | DISEASES 9562 | MINPP1 | 3.461 | DISEASES 4595 | MUTYH | 4.326 | DISEASES 5378 | PMS1 | 1.199 | DISEASES 5728 | PTEN | 4.431 | DISEASES 6390 | SDHB | 1.142 | DISEASES 6392 | SDHD | 1.206 | DISEASES 4088 | SMAD3 | 1.555 | DISEASES 4089 | SMAD4 | 6.376 | DISEASES 4090 | SMAD5 | 2.162 | DISEASES 4093 | SMAD9 | 2.597 | DISEASES 6794 | STK11 | 3.879 | DISEASES 7046 | TGFBR1 | 1.924 | DISEASES 7048 | TGFBR2 | 1.865 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 236 |
|---|---|
| Disease | juvenile polyposis syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0001903 | Anemia | 1 HP:0002571 | Achalasia | 1 HP:0002584 | Intestinal hemorrhage | 1 HP:0004390 | Hamartomatous polyps | 1 HP:0002242 | Enteropathy | 1 HP:0002239 | Gastrointestinal hemorrhage | 1 HP:0001009 | Telangiectases | 1 HP:0012126 | Gastric cancer | 1 |
| Disease ID | 236 |
|---|---|
| Disease | juvenile polyposis syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| SMAD4 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| BMPR1A | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:69) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912577 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51067115 | C | G |
| rs121912581 | 12417513 | 4089 | SMAD4 | umls:C0345893 | UNIPROT | Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. | 0.587926175 | 2002 | SMAD4 | 18 | 51065521 | G | A |
| rs199476084 | NA | 657 | BMPR1A | umls:C0345893 | CLINVAR | NA | 0.573420204 | NA | BMPR1A | 10 | 86917173 | C | T |
| rs199476085 | NA | 657 | BMPR1A | umls:C0345893 | CLINVAR | NA | 0.573420204 | NA | BMPR1A | 10 | 86917270 | G | A |
| rs199476086 | NA | 657 | BMPR1A | umls:C0345893 | CLINVAR | NA | 0.573420204 | NA | BMPR1A | 10 | 86919316 | C | A |
| rs199476087 | NA | 657 | BMPR1A | umls:C0345893 | CLINVAR | NA | 0.573420204 | NA | BMPR1A | 10 | 86899830 | T | C |
| rs199476088 | NA | 657 | BMPR1A | umls:C0345893 | CLINVAR | NA | 0.573420204 | NA | BMPR1A | 10 | 86919430 | G | A |
| rs199476089 | NA | 657 | BMPR1A | umls:C0345893 | CLINVAR | NA | 0.573420204 | NA | BMPR1A | 10 | 86923442 | T | C |
| rs281875324 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065456 | A | G |
| rs281875324 | 12417513 | 4089 | SMAD4 | umls:C0345893 | UNIPROT | Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. | 0.587926175 | 2002 | SMAD4 | 18 | 51065456 | A | G |
| rs35619497 | 17344846 | 657 | BMPR1A | umls:C0345893 | UNIPROT | Patterns of somatic mutation in human cancer genomes. | 0.573420204 | 2007 | BMPR1A | 10 | 86921680 | C | T |
| rs377767324 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51048809 | - | AT |
| rs377767325 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51048817 | - | TGTCTGT |
| rs377767326 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51048839 | C | T |
| rs377767327 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51049289 | A | G |
| rs377767328 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51049300 | TC | - |
| rs377767329 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51049307 | T | A |
| rs377767330 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51054842 | GTCCACTGAAGG | - |
| rs377767331 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51054859 | C | G |
| rs377767332 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51054864 | C | T |
| rs377767333 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51054934 | C | - |
| rs377767334 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51058149 | - | G |
| rs377767335 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51058186 | - | CCGC |
| rs377767336 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51058381 | AC | - |
| rs377767338 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51059889 | - | GCAT |
| rs377767339 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065437 | T | C |
| rs377767340 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065438 | G | - |
| rs377767341 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065449 | - | T |
| rs377767343 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065504 | C | - |
| rs377767344 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065509 | GT | - |
| rs377767346 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065525 | A | C |
| rs377767348 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065554 | T | C |
| rs377767352 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065580 | C | - |
| rs377767353 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065606 | G | A |
| rs377767354 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065607 | G | A |
| rs377767356 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51067047 | G | A |
| rs377767357 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51067072 | G | A |
| rs377767358 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51067121 | A | - |
| rs377767359 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51067147 | G | - |
| rs377767360 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51076662 | C | T |
| rs377767361 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51076671 | C | T |
| rs377767362 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51076672 | AGCAGCAGGCGGCTACTGCACAA | - |
| rs377767363 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51076690 | CACA | - |
| rs377767364 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51076738 | - | CCCT |
| rs377767365 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51076740 | GGCCCAGGATCAGTAGGTGGAATAG | - |
| rs377767366 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51076750 | C | - |
| rs377767367 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078280 | G | T |
| rs377767368 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078286 | A | C |
| rs377767369 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078333 | T | A |
| rs377767370 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078335 | G | A |
| rs377767371 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078337 | G | T |
| rs377767372 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078352 | G | - |
| rs377767373 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078358 | - | AGAG |
| rs377767374 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078372 | CC | - |
| rs377767375 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078379 | G | T |
| rs377767376 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078395 | - | A,TA |
| rs377767377 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078396 | C | - |
| rs377767381 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078405 | C | G |
| rs377767384 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078415 | - | T |
| rs377767386 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51048861 | G | A |
| rs587783038 | NA | 657 | BMPR1A | umls:C0345893 | CLINVAR | NA | 0.573420204 | NA | BMPR1A | 10 | 86890109 | - | A |
| rs587783060 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51078355 | - | A |
| rs672601247 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51047235 | AAATGGAGC | NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN |
| rs786204125 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51076682 | - | GCTACTGCACAAGCTGCAGCAGCTGCCC |
| rs786204187 | NA | 657 | BMPR1A | umls:C0345893 | CLINVAR | NA | 0.573420204 | NA | BMPR1A | 10 | 86892139 | TTGCT | - |
| rs80338963 | 9811934 | 4089 | SMAD4 | umls:C0345893 | UNIPROT | Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. | 0.587926175 | 1998 | SMAD4 | 18 | 51065548 | C | A,G,T |
| rs80338963 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51065548 | C | A,G,T |
| rs80338964 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51067041 | C | T |
| rs80338965 | NA | 4089 | SMAD4 | umls:C0345893 | CLINVAR | NA | 0.587926175 | NA | SMAD4 | 18 | 51067123 | ACAG | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 236 |
|---|---|
| Disease | juvenile polyposis syndrome |
| Case | (Waiting for update.) |