MCID: INT358
MIFTS: 25

Intestinal Polyposis Syndrome

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Intestinal Polyposis Syndrome

MalaCards integrated aliases for Intestinal Polyposis Syndrome:

Name: Intestinal Polyposis Syndrome 58
Intestinal Polyposis 29 6

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

MESH via Orphanet 45 D044483
UMLS via Orphanet 72 C0345891 C1257915
Orphanet 58 ORPHA104010

Summaries for Intestinal Polyposis Syndrome

MalaCards based summary : Intestinal Polyposis Syndrome, also known as intestinal polyposis, is related to juvenile polyposis syndrome and peutz-jeghers syndrome. An important gene associated with Intestinal Polyposis Syndrome is STK11 (Serine/Threonine Kinase 11). The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and small intestine.

Related Diseases for Intestinal Polyposis Syndrome

Diseases related to Intestinal Polyposis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis syndrome 11.6
2 peutz-jeghers syndrome 11.5
3 familial adenomatous polyposis 11.3
4 genetic intestinal polyposis 11.3
5 familial adenomatous polyposis 1 11.2
6 intussusception 10.2
7 medulloblastoma 10.0
8 mismatch repair cancer syndrome 1 10.0
9 adenoma 10.0
10 intestinal obstruction 10.0
11 sotos syndrome 1 10.0
12 birt-hogg-dube syndrome 10.0
13 polyposis, skin pigmentation, alopecia, and fingernail changes 10.0
14 myeloma, multiple 10.0
15 lymphoma 10.0
16 diarrhea 10.0
17 alopecia 10.0
18 thyroid carcinoma 10.0
19 achondroplasia 9.8
20 burkitt lymphoma 9.8
21 epidermoid cysts 9.8
22 marfan syndrome 9.8
23 cowden syndrome 1 9.8
24 dowling-degos disease 1 9.8
25 schistosoma mansoni infection, susceptibility/ 9.8
26 thyroid cancer, nonmedullary, 1 9.8
27 lymphoma, hodgkin, classic 9.8
28 testicular germ cell tumor 9.8
29 ascaris lumbricoides infection 9.8
30 lymphoma, non-hodgkin, familial 9.8
31 taeniasis 9.8
32 diffuse large b-cell lymphoma 9.8
33 mantle cell lymphoma 9.8
34 salmonellosis 9.8
35 fibrous dysplasia 9.8
36 polycystic kidney disease 9.8
37 plasmablastic lymphoma 9.8
38 mismatch repair cancer syndrome 9.8
39 cysticercosis 9.8
40 dermatomyositis 9.8
41 protein-losing enteropathy 9.8
42 chagas disease 9.8
43 goiter 9.8
44 shigellosis 9.8
45 telangiectasis 9.8
46 ancylostomiasis 9.8
47 schistosomiasis 9.8
48 basal cell carcinoma 9.8
49 testicular cancer 9.8
50 glioblastoma 9.8

Graphical network of the top 20 diseases related to Intestinal Polyposis Syndrome:



Diseases related to Intestinal Polyposis Syndrome

Symptoms & Phenotypes for Intestinal Polyposis Syndrome

Drugs & Therapeutics for Intestinal Polyposis Syndrome

Drugs for Intestinal Polyposis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
4 Antifungal Agents Phase 2
5 Immunosuppressive Agents Phase 2
6 Antibiotics, Antitubercular Phase 2
7 Anti-Infective Agents Phase 2
8 Anti-Bacterial Agents Phase 2
9 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus for the Treatment of Severe Intestinal Polyposis in Patients With Familial Adenomatous Polyposis (FAP): a Pilot Study Completed NCT03095703 Phase 2 Sirolimus
2 Multi Center, Observational, Retrospective Data Collection of Patients Treated With the ColonRing in Routine Clinical Practice. This Study to Continue RETROPRESS Study ID NCT01301417 Unknown status NCT01880918
3 a RETROspective Data Collection of comPRESSion Anastomosis Using the ColonRing ™ Completed NCT01301417
4 Single Incision Laparoscopic Surgery (SILS) for Colorectal Disease - A Novel Approach Completed NCT01656746
5 European Novel Motorized Spiral Endoscopy Trial Completed NCT02965209
6 Intestinal Stem Cells Characterization in Intestinal Organoid Culture From Inflammatory Bowel Disease and Intestinal Polyposis Patients Recruiting NCT02874365

Search NIH Clinical Center for Intestinal Polyposis Syndrome

Genetic Tests for Intestinal Polyposis Syndrome

Genetic tests related to Intestinal Polyposis Syndrome:

# Genetic test Affiliating Genes
1 Intestinal Polyposis 29

Anatomical Context for Intestinal Polyposis Syndrome

MalaCards organs/tissues related to Intestinal Polyposis Syndrome:

40
Colon, Skin, Small Intestine, T Cells, Appendix

Publications for Intestinal Polyposis Syndrome

Articles related to Intestinal Polyposis Syndrome:

(show top 50) (show all 389)
# Title Authors PMID Year
1
A case of multiple recurrent intussusceptions due to multiple lymphomatous polyposis associated with diffuse large B-cell lymphoma of gastrointestinal tract in a 15-year-old child: A rare case report. 61
33422851 2020
2
Gardner syndrome with giant abdominal desmoid tumor during pregnancy: a case report. 61
33183289 2020
3
Discovery of 4-(3,5-dimethoxy-4-(((4-methoxyphenethyl)amino)methyl)phenoxy)-N-phenylaniline as a novel c-myc inhibitor against colorectal cancer in vitro and in vivo. 61
32387836 2020
4
Winnie-APCMin/+ Mice: A Spontaneous Model of Colitis-Associated Colorectal Cancer Combining Genetics and Inflammation. 61
32340123 2020
5
PTEN in Hereditary and Sporadic Cancer. 61
31570378 2020
6
50 Years Ago in TheJournalofPediatrics: Infantile Intestinal Polyposis Is Still Rare with High Morbidity and Mortality. 61
32204798 2020
7
Acarbose improved survival for Apc+/Min mice. 61
31903726 2020
8
Validation of serrated polyps (SPs) in Swedish pathology registers. 61
31892305 2019
9
Pediatric craniopharyngioma in association with familial adenomatous polyposis. 61
30919136 2019
10
Active-Site Tryptophan, the Target of Antineoplastic C-Terminal Binding Protein Inhibitors, Mediates Inhibitor Disruption of CtBP Oligomerization and Transcription Coregulatory Activities. 61
31036695 2019
11
A Rare Cause of Intestinal Polyposis. 61
31366428 2019
12
Serum metabolite profiling of familial adenomatous polyposis using ultra performance liquid chromatography and tandem mass spectrometry. 61
30983515 2019
13
Gardner syndrome with maxillofacial manifestation: A case report. 61
30417483 2019
14
[Small Bowel Tumors and Polyposis: How to Approach and Manage?] 61
30642146 2018
15
Kaposi sarcoma-associated herpesvirus/human herpesvirus 8-associated extracavitary primary effusion lymphoma presenting as multiple lymphomatous polyposis. 61
29505765 2018
16
The Canonical Wnt Pathway Drives Macropinocytosis in Cancer. 61
29871936 2018
17
An intestinal stem cell niche in Apc mutated neoplasia targetable by CtBP inhibition. 61
30197752 2018
18
LKB1 deficiency in T cells promotes the development of gastrointestinal polyposis. 61
30049881 2018
19
Collaborating genomic, transcriptomic and microbiomic alterations lead to canine extreme intestinal polyposis. 61
30018743 2018
20
Antibiotic-mediated bacteriome depletion in ApcMin/+ mice is associated with reduction in mucus-producing goblet cells and increased colorectal cancer progression. 61
29624892 2018
21
Chir99021 and Valproic acid reduce the proliferative advantage of Apc mutant cells. 61
29449562 2018
22
KLF5 mediates the hyper-proliferative phenotype of the intestinal epithelium in mice with intestine-specific endogenous K-RasG12D expression. 61
29736317 2018
23
Laugier-Hunziker syndrome in endocrine clinical practice. 61
30087778 2018
24
Sporadic Burkitt Lymphoma Presenting as Intestinal Polyposis in a Child. 61
27941561 2017
25
Transforming activity and therapeutic targeting of C-terminal-binding protein 2 in Apc-mutated neoplasia. 61
28414304 2017
26
Cowden syndrome: clinical case and a brief review. 61
29469739 2017
27
Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhea. 61
28725309 2017
28
A metagenomic study of the preventive effect of Lactobacillus rhamnosus GG on intestinal polyp formation in ApcMin/+ mice. 61
28004480 2017
29
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. 61
29168369 2017
30
Light/Dark Shifting Promotes Alcohol-Induced Colon Carcinogenesis: Possible Role of Intestinal Inflammatory Milieu and Microbiota. 61
27918452 2016
31
Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts. 61
28035305 2016
32
A case series of intestinal adenomatous polyposis of unidentified etiology; a late effect of irradiation? 61
27821077 2016
33
High-Fat Diet-Induced Complement Activation Mediates Intestinal Inflammation and Neoplasia, Independent of Obesity. 61
27535705 2016
34
Efficacy and safety of eflornithine (CPP-1X)/sulindac combination therapy versus each as monotherapy in patients with familial adenomatous polyposis (FAP): design and rationale of a randomized, double-blind, Phase III trial. 61
27480131 2016
35
Gardner Syndrome With Unusual Maxillofacial Manifestation. 61
27391496 2016
36
Giant rectal polyp prolapse in an adult patient with the Peutz-Jeghers syndrome. 61
27444139 2016
37
Intestinal Polyposis Syndromes. 61
27272866 2016
38
Endogenous conversion of ω-6 to ω-3 polyunsaturated fatty acids in fat-1 mice attenuated intestinal polyposis by either inhibiting COX-2/β-catenin signaling or activating 15-PGDH/IL-18. 61
26650508 2016
39
Gardner's Syndrome revisited: a clinical case and overview of the literature. 61
25907321 2016
40
A distinct variant of papillary thyroid carcinoma indicating familial adenomatous polyposis (FAP): a case report and brief review. 61
26681171 2015
41
CLINICAL, EPIDEMIOLOGIC, AND ENDOSCOPIC PROFILE IN CHILDREN AND ADOLESCENTS WITH COLONIC POLYPS IN TWO REFERENCE CENTERS. 61
26840472 2015
42
Chemopreventive Action of Anthocyanin-rich Black Soybean Fraction in APC (Min/+) Intestinal Polyposis Model. 61
26473158 2015
43
IL-33 activates tumor stroma to promote intestinal polyposis. 61
25918379 2015
44
[Multiple myeloma recurring as small intestinal polyposis after autologous hematopoietic stem cell transplantation]. 61
25971270 2015
45
A Patient With Gardner's Syndrome and Familial Adenomatous Polyposis Presenting With Extra-abdominal Desmoid Tumors and Diffuse Intestinal Polyposis. 61
26157940 2015
46
Treatment with anti-interleukin-6 receptor antibody ameliorates intestinal polyposis in Apc(Min/+) mice under high-fat diet conditions. 61
25746084 2015
47
Promotion of colorectal cancer invasion and metastasis through activation of NOTCH-DAB1-ABL-RHOGEF protein TRIO. 61
25432929 2015
48
Zileuton, 5-lipoxygenase inhibitor, acts as a chemopreventive agent in intestinal polyposis, by modulating polyp and systemic inflammation. 61
25747113 2015
49
CXCR2 inhibition enhances sulindac-mediated suppression of colon cancer development. 61
24338666 2014
50
Minor class splicing shapes the zebrafish transcriptome during development. 61
24516132 2014

Variations for Intestinal Polyposis Syndrome

ClinVar genetic disease variations for Intestinal Polyposis Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STK11 NM_000455.4(STK11):c.856_858delCTG Microsatellite Likely pathogenic 374005 rs1057518830 19:1221330-1221332 19:1221331-1221333

Expression for Intestinal Polyposis Syndrome

Search GEO for disease gene expression data for Intestinal Polyposis Syndrome.

Pathways for Intestinal Polyposis Syndrome

GO Terms for Intestinal Polyposis Syndrome

Sources for Intestinal Polyposis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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