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Serrated Polyposis Syndrome

Categories: Gastrointestinal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Serrated Polyposis Syndrome

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MalaCards integrated aliases for Serrated Polyposis Syndrome:

Name: Serrated Polyposis Syndrome 58
Hyperplastic Polyposis Syndrome 58
Serrated Polyposis 6

Characteristics:

Orphanet epidemiological data:

58
serrated polyposis syndrome
Inheritance: Autosomal dominant,Multigenic/multifactorial;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gastroenterological diseases


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Summaries for Serrated Polyposis Syndrome

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MalaCards based summary : Serrated Polyposis Syndrome, also known as hyperplastic polyposis syndrome, is related to adenoma and familial adenomatous polyposis. An important gene associated with Serrated Polyposis Syndrome is RNF43 (Ring Finger Protein 43), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include colon, breast and prostate, and related phenotypes are colorectal polyposis and adenomatous colonic polyposis

Wikipedia : 74 Serrated polyposis syndrome (SPS), previously known as hyperplastic polyposis syndrome, is a disorder... more...

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Related Diseases for Serrated Polyposis Syndrome

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 adenoma 30.2 MUTYH KRAS BRAF APC
2 familial adenomatous polyposis 30.0 MUTYH KRAS APC
3 hereditary mixed polyposis syndrome 29.7 PTEN MUTYH GREM1
4 familial colorectal cancer 29.4 MUTYH GREM1 BRAF APC
5 adenocarcinoma 29.4 PTEN KRAS BRAF APC
6 colon adenocarcinoma 29.4 PTEN KRAS BRAF APC
7 colorectal adenoma 29.2 PTEN MUTYH KRAS GREM1 APC
8 lynch syndrome 28.2 RNF43 PTEN MUTYH KRAS BRAF APC
9 colorectal cancer 10.5
10 urachal adenocarcinoma 10.2 KRAS BRAF
11 apocrine adenoma 10.2 KRAS BRAF
12 schopf-schulz-passarge syndrome 10.2
13 inflammatory bowel disease 10.2
14 acneiform dermatitis 10.2 KRAS BRAF
15 syringocystadenoma papilliferum 10.2 KRAS BRAF
16 endosalpingiosis 10.2 KRAS BRAF
17 struma ovarii 10.2 KRAS BRAF
18 rosai-dorfman disease 10.2 KRAS BRAF
19 mature teratoma 10.1 KRAS BRAF
20 ampulla of vater neoplasm 10.1 KRAS APC
21 periampullary adenoma 10.1 KRAS APC
22 primary mediastinal b-cell lymphoma 10.1 KRAS BRAF
23 rectosigmoid cancer 10.1 MUTYH KRAS
24 ovarian clear cell adenofibroma 10.0 PTEN KRAS
25 acral lentiginous melanoma 10.0 PTEN BRAF
26 duodenum cancer 10.0 MUTYH KRAS
27 familial adenomatous polyposis 2 10.0 MUTYH APC
28 duodenum disease 10.0 MUTYH KRAS
29 paroxysmal nonkinesigenic dyskinesia 1 10.0
30 lymphoma, hodgkin, classic 10.0
31 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
32 sessile serrated polyposis cancer syndrome 10.0
33 lymphoma 10.0
34 anal canal adenocarcinoma 10.0
35 47,xyy 10.0
36 mutyh polyposis 10.0
37 thyroid carcinoma 10.0
38 attenuated familial adenomatous polyposis 10.0 MUTYH APC
39 gliomatosis cerebri 10.0 PTEN BRAF
40 endometrioid ovary carcinoma 10.0 PTEN KRAS
41 large intestine adenocarcinoma 10.0 PTEN KRAS
42 pilomyxoid astrocytoma 10.0 KRAS BRAF
43 endometrial serous adenocarcinoma 10.0 PTEN KRAS
44 arteriovenous malformations of the brain 10.0 KRAS BRAF
45 female reproductive endometrioid cancer 10.0 PTEN KRAS
46 skin papilloma 10.0 PTEN KRAS
47 ulcerative colitis 10.0
48 nthl1 tumor syndrome 10.0
49 premature aging 10.0
50 uterine body mixed cancer 10.0 PTEN KRAS

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



Diseases related to Serrated Polyposis Syndrome
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Symptoms & Phenotypes for Serrated Polyposis Syndrome

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Human phenotypes related to Serrated Polyposis Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colorectal polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200063
2 adenomatous colonic polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0005227
3 gastric diverticulum 58 31 frequent (33%) Frequent (79-30%) HP:0100808
4 melanoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002861
5 breast carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0003002
6 pancreatic adenocarcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0006725
7 biliary tract neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0100574
8 ovarian neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0100615
9 hodgkin lymphoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012189
10 schwannoma 58 31 very rare (1%) Very rare (<4-1%) HP:0100008
11 prostate cancer 58 31 very rare (1%) Very rare (<4-1%) HP:0012125
12 bladder carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002862
13 germ cell neoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0100728
14 neoplasm of the large intestine 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Serrated Polyposis Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 BRAF FBLN2 KRAS MUTYH PTEN

MGI Mouse Phenotypes related to Serrated Polyposis Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 APC BRAF GREM1 KRAS MUTYH PTEN
2 digestive/alimentary MP:0005381 9.72 APC BRAF KRAS PTEN RNF43
3 limbs/digits/tail MP:0005371 9.65 APC BRAF GREM1 KRAS PTEN
4 neoplasm MP:0002006 9.63 APC BRAF KRAS MUTYH PTEN RNF43
5 pigmentation MP:0001186 9.26 APC BRAF KRAS PTEN
6 renal/urinary system MP:0005367 9.02 APC BRAF GREM1 KRAS PTEN
Sources

Drugs & Therapeutics for Serrated Polyposis Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effectiveness of a Personalized Endoscopic Surveillance Protocol for Patients With Serrated Polyposis Syndrome Completed NCT03450889
2 Panchromoendoscopy for the Surveillance of Serrated Polyposis Syndrome, a Multicenter, Prospective and Randomized Trial. Completed NCT03476434
3 Endocuff-assisted vs. Standard Colonoscopy for Surveillance of Serrated Polyposis Syndrome: A Randomized Controlled Trial Completed NCT02592603

Search NIH Clinical Center for Serrated Polyposis Syndrome

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Genetic Tests for Serrated Polyposis Syndrome

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Anatomical Context for Serrated Polyposis Syndrome

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MalaCards organs/tissues related to Serrated Polyposis Syndrome:

40
Colon, Breast, Prostate, Appendix
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Publications for Serrated Polyposis Syndrome

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Articles related to Serrated Polyposis Syndrome:

(show top 50) (show all 144)
# Title Authors PMID Year
1
A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred. 6 61
27081527 2015
2
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. 6 61
24512911 2014
3
Serrated Lesions in Inflammatory Bowel Disease: Genotype-Phenotype Correlation. 61
33030071 2021
4
Is it time to consider prophylactic appendectomy in patients with serrated polyposis syndrome undergoing surveillance? 61
32694174 2021
5
Long-Term Outcomes of Patients with Serrated Polyposis Syndrome. 61
33307031 2021
6
Long-term surveillance in individuals with serrated polyposis syndrome. 61
33160491 2020
7
The long-term outcomes and natural disease course of serrated polyposis syndrome: over 10 years of prospective follow-up in a specialized center. 61
32360902 2020
8
Correction: Personalised surveillance for serrated polyposis syndrome: results from a prospective 5-year international cohort study. 61
32895331 2020
9
A natural language-based tool for diagnosis of serrated polyposis syndrome. 61
32417299 2020
10
RNF43 mutation analysis in serrated polyposis, sporadic serrated polyps and Lynch syndrome polyps. 61
33098683 2020
11
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility. 61
32170005 2020
12
Serrated Polyposis Syndrome with a Synchronous Colon Adenocarcinoma Treated by an Endoscopic Mucosal Resection. 61
32969364 2020
13
Optimal Endoscopic Treatment and Surveillance of Serrated Polyps. 61
31581390 2020
14
Serrated Polyposis Syndrome: Increasing Awareness and Importance. 61
32821553 2020
15
First case of serrated lesion of the duodenal papilla in a patient with serrated colonic polyposis. 61
32651077 2020
16
Update on the World Health Organization Criteria for Diagnosis of Serrated Polyposis Syndrome. 61
31982410 2020
17
Narrow-band imaging and high-definition white-light endoscopy in patients with serrated lesions not fulfilling criteria for serrated polyposis syndrome: a randomized controlled trial with tandem colonoscopy. 61
32299380 2020
18
Serrated Polyposis Syndrome. 61
31520728 2020
19
The (ir)relevance of the abandoned criterion II for the diagnosis of serrated polyposis syndrome: a retrospective cohort study. 61
31853684 2020
20
Ocular manifestations in celiac disease: an overview. 61
31916055 2020
21
A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors. 61
32051178 2020
22
Sessile Serrated Polyposis: Not an Inherited Syndrome? 61
31914111 2020
23
Personalised surveillance for serrated polyposis syndrome: results from a prospective 5-year international cohort study. 61
30981990 2020
24
Hereditary or Not? Understanding Serrated Polyposis Syndrome. 61
31673925 2019
25
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes. 61
31243857 2019
26
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing. 61
31663907 2019
27
Practical management of polyposis syndromes. 61
31656563 2019
28
Update on genetic predisposition to colorectal cancer and polyposis. 61
30862463 2019
29
Panchromoendoscopy Increases Detection of Polyps in Patients With Serrated Polyposis Syndrome. 61
30366156 2019
30
Low Incidence of Advanced Neoplasia in Serrated Polyposis Syndrome After (Sub)total Colectomy: Results of a 5-Year International Prospective Cohort Study. 61
31403493 2019
31
Serrated polyposis syndrome: time to rethink endoscopic treatment and surveillance. 61
31228973 2019
32
Endoscopic control of polyp burden and expansion of surveillance intervals in serrated polyposis syndrome. 61
30465771 2019
33
Endocuff-assisted colonoscopy for surveillance of serrated polyposis syndrome: a multicenter randomized controlled trial. 61
31174224 2019
34
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. 61
31227763 2019
35
BRAF mutation: Current and future clinical pathological applications in colorectal carcinoma. 61
30592501 2019
36
Screening Relevance of Sessile Serrated Polyps. 61
30625264 2019
37
High prevalence of advanced colorectal neoplasia and serrated polyposis syndrome in Hodgkin lymphoma survivors. 61
30561773 2019
38
Reasons why the diagnosis of serrated polyposis syndrome is missed. 61
30520764 2019
39
Diagnosis of Serrated Polyposis Syndrome in an Adolescent Patient. 61
30428696 2019
40
[French comment on article High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome]. 61
30695810 2019
41
High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome. 61
30068004 2019
42
An Update on Inherited Colon Cancer and Gastrointestinal Polyposis. 61
31409085 2019
43
Aspects of the Natural History of Sessile Serrated Adenomas/Polyps: Risk Indicators for Carcinogenesis in the Colorectal Mucosa? 61
30346367 2018
44
Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis. 61
29330307 2018
45
[French comment on article The clinical significance and synchronous polyp burden of large (≥ 20mm) sessile serrated polyps in patients without serrated polyposis syndrome]. 61
30399638 2018
46
The clinical significance and synchronous polyp burden of large (≥ 20 mm) sessile serrated polyps in patients without serrated polyposis syndrome. 61
29739023 2018
47
Adenocarcinoma of the anal canal with an exceptional immunohistochemistry in a patient with serrated polyposis syndrome: a diagnostic challenge. 61
30168336 2018
48
Serrated polyposis syndrome may go undiagnosed even in structured colorectal cancer screening programmes performed by endoscopists with otherwise good quality indices. 61
29055909 2018
49
Acetic acid spray contribution in the endoscopic diagnosis of serrated polyposis syndrome. 61
29905183 2018
50
Serrated polyposis syndrome. 61
28688626 2018
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Variations for Serrated Polyposis Syndrome

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ClinVar genetic disease variations for Serrated Polyposis Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNF43 NM_001305545.1(RNF43):c.-45C>T SNV Pathogenic 254140 rs1567880628 17:56448310-56448310 17:58370949-58370949
2 RNF43 NM_017763.5(RNF43):c.394C>T (p.Arg132Ter) SNV Pathogenic 190226 rs786205215 17:56440943-56440943 17:58363582-58363582
3 APC NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) Microsatellite Pathogenic 816 rs121913224 5:112175212-112175216 5:112839515-112839519

Copy number variations for Serrated Polyposis Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 121765 18 46810580 46865409 Pathogenic mutation c.1264_1265delinsa SMAD4 Serrated polyposis
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Expression for Serrated Polyposis Syndrome

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Search GEO for disease gene expression data for Serrated Polyposis Syndrome.
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Pathways for Serrated Polyposis Syndrome

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Pathways related to Serrated Polyposis Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Endometrial cancer 36
Show member pathways
 12.5 PTEN KRAS BRAF APC
2
Pathways in cancer 36
12.43 PTEN KRAS BRAF APC
3
Gastric cancer 36
Show member pathways
 12.29 PTEN KRAS BRAF APC
4
MicroRNAs in cancer 36
12.26 PTEN KRAS APC
5
B cell receptor signaling pathway (KEGG) 36
Show member pathways
 12.13 PTEN KRAS BRAF
6
Development HGF signaling pathway 23
Show member pathways
 12.09 PTEN KRAS BRAF APC
7
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 11.96 PTEN KRAS BRAF
8
Colorectal Cancer Metastasis 63
11.89 KRAS BRAF APC
9
EGF/EGFR Signaling Pathway 1
11.87 PTEN KRAS BRAF
10
Integrated Breast Cancer Pathway 1
11.8 PTEN KRAS BRAF
11
mTOR signaling pathway (KEGG) 36
Show member pathways
 11.73 PTEN KRAS BRAF APC
12
FoxO signaling pathway 36
Show member pathways
 11.68 PTEN KRAS BRAF
13
DNA Damage Response (only ATM dependent) 1
11.49 PTEN KRAS APC
14
Copper homeostasis 1
11.34 PTEN APC
15
Vemurafenib Pathway, Pharmacodynamics 60
11.22 KRAS BRAF
16
Crizotinib Pathway, Pharmacokinetics/Pharmacodynamics 60
11.16 KRAS BRAF
17
Ovarian tumor domain proteases 65
11.14 PTEN APC
18
BDNF-TrkB Signaling 1
11.07 KRAS BRAF
19
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 1
11.01 PTEN KRAS
20
Extracellular vesicle-mediated signaling in recipient cells 1
11 KRAS APC
21
Glioblastoma Multiforme 63
10.97 PTEN KRAS BRAF APC
22
G-protein signaling_K-RAS regulation pathway 23
10.94 KRAS BRAF
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GO Terms for Serrated Polyposis Syndrome

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Biological processes related to Serrated Polyposis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 9.4 PTEN BRAF
2 visual learning GO:0008542 9.37 KRAS BRAF
3 cellular response to nerve growth factor stimulus GO:1990090 9.32 PTEN BRAF
4 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.26 PTEN APC
5 endothelial cell migration GO:0043542 9.16 PTEN GREM1
6 regulation of synaptic transmission, GABAergic GO:0032228 8.96 PTEN KRAS
7 regulation of axon regeneration GO:0048679 8.62 PTEN BRAF
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Sources for Serrated Polyposis Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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