MCID: SRR001
MIFTS: 42

Serrated Polyposis Syndrome

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Serrated Polyposis Syndrome

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:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Serrated Polyposis Syndrome

MalaCards based summary : Serrated Polyposis Syndrome, also known as hyperplastic polyposis syndrome, is related to adenoma and familial adenomatous polyposis 2. 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 : 73 Serrated polyposis syndrome (SPS), previously known as hyperplastic polyposis syndrome, is a disorder... more...

Related Diseases for Serrated Polyposis Syndrome

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

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 adenoma 30.2 MUTYH KRAS BRAF APC
2 familial adenomatous polyposis 2 30.1 MUTYH APC
3 attenuated familial adenomatous polyposis 30.1 MUTYH APC
4 familial adenomatous polyposis 30.0 MUTYH KRAS APC
5 myh-associated polyposis 29.8 MUTYH KRAS APC
6 hereditary mixed polyposis syndrome 29.7 PTEN MUTYH GREM1
7 familial colorectal cancer 29.4 MUTYH GREM1 BRAF APC
8 adenocarcinoma 29.4 PTEN KRAS BRAF APC
9 colon adenocarcinoma 29.4 PTEN KRAS BRAF APC
10 colorectal adenoma 29.2 PTEN MUTYH KRAS GREM1 APC
11 lynch syndrome 28.2 RNF43 PTEN MUTYH KRAS BRAF APC
12 colorectal cancer 10.5
13 urachal adenocarcinoma 10.2 KRAS BRAF
14 apocrine adenoma 10.2 KRAS BRAF
15 schopf-schulz-passarge syndrome 10.2
16 inflammatory bowel disease 10.2
17 acneiform dermatitis 10.2 KRAS BRAF
18 syringocystadenoma papilliferum 10.2 KRAS BRAF
19 endosalpingiosis 10.2 KRAS BRAF
20 struma ovarii 10.2 KRAS BRAF
21 rosai-dorfman disease 10.2 KRAS BRAF
22 mature teratoma 10.1 KRAS BRAF
23 thyroid tumor 10.1 PTEN BRAF
24 ampulla of vater benign neoplasm 10.1 KRAS APC
25 periampullary adenoma 10.1 KRAS APC
26 rectosigmoid cancer 10.1 MUTYH KRAS
27 ovarian clear cell adenofibroma 10.0 PTEN KRAS
28 acral lentiginous melanoma 10.0 PTEN BRAF
29 duodenum cancer 10.0 MUTYH KRAS
30 paroxysmal nonkinesigenic dyskinesia 1 10.0
31 lymphoma, hodgkin, classic 10.0
32 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
33 gastric cancer 10.0
34 sessile serrated polyposis cancer syndrome 10.0
35 lymphoma 10.0
36 anal canal adenocarcinoma 10.0
37 47,xyy 10.0
38 mutyh polyposis 10.0
39 thyroid carcinoma 10.0
40 duodenum disease 10.0 MUTYH KRAS
41 primary mediastinal b-cell lymphoma 10.0 KRAS BRAF
42 gliomatosis cerebri 10.0 PTEN BRAF
43 endometrioid ovary carcinoma 10.0 PTEN KRAS
44 large intestine adenocarcinoma 10.0 PTEN KRAS
45 endometrial serous adenocarcinoma 10.0 PTEN KRAS
46 female reproductive endometrioid cancer 10.0 PTEN KRAS
47 skin papilloma 10.0 PTEN KRAS
48 tumor predisposition syndrome 10.0
49 cutaneous telangiectasia and cancer syndrome, familial 10.0
50 ulcerative colitis 10.0

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



Diseases related to Serrated Polyposis Syndrome

Symptoms & Phenotypes for Serrated Polyposis Syndrome

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

Drugs & Therapeutics for Serrated Polyposis Syndrome

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 Endocuff-assisted vs. Standard Colonoscopy for Surveillance of Serrated Polyposis Syndrome: A Randomized Controlled Trial Completed NCT02592603
3 Panchromoendoscopy for the Surveillance of Serrated Polyposis Syndrome, a Multicenter, Prospective and Randomized Trial. Completed NCT03476434

Search NIH Clinical Center for Serrated Polyposis Syndrome

Genetic Tests for Serrated Polyposis Syndrome

Anatomical Context for Serrated Polyposis Syndrome

MalaCards organs/tissues related to Serrated Polyposis Syndrome:

40
Colon, Breast, Prostate, Appendix

Publications for Serrated Polyposis Syndrome

Articles related to Serrated Polyposis Syndrome:

(show top 50) (show all 146)
# Title Authors PMID Year
1
A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred. 61 6
27081527 2015
2
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. 61 6
24512911 2014
3
RNF43 mutation analysis in serrated polyposis, sporadic serrated polyps and Lynch syndrome polyps. 61
33098683 2021
4
Long-Term Incidence of Advanced Colorectal Neoplasia in Patients with Serrated Polyposis Syndrome: Experience in a Single Academic Centre. 61
33802297 2021
5
Serrated Lesions in Inflammatory Bowel Disease: Genotype-Phenotype Correlation. 61
33030071 2021
6
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome. 61
33672345 2021
7
Long-Term Outcomes of Patients with Serrated Polyposis Syndrome. 61
33307031 2021
8
Is it time to consider prophylactic appendectomy in patients with serrated polyposis syndrome undergoing surveillance? 61
32694174 2021
9
Long-term surveillance in individuals with serrated polyposis syndrome. 61
33160491 2020
10
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
11
Correction: Personalised surveillance for serrated polyposis syndrome: results from a prospective 5-year international cohort study. 61
32895331 2020
12
A natural language-based tool for diagnosis of serrated polyposis syndrome. 61
32417299 2020
13
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility. 61
32170005 2020
14
Serrated Polyposis Syndrome with a Synchronous Colon Adenocarcinoma Treated by an Endoscopic Mucosal Resection. 61
32969364 2020
15
Serrated Polyposis Syndrome: Increasing Awareness and Importance. 61
32821553 2020
16
First case of serrated lesion of the duodenal papilla in a patient with serrated colonic polyposis. 61
32651077 2020
17
Optimal Endoscopic Treatment and Surveillance of Serrated Polyps. 61
31581390 2020
18
Update on the World Health Organization Criteria for Diagnosis of Serrated Polyposis Syndrome. 61
31982410 2020
19
Serrated Polyposis Syndrome. 61
31520728 2020
20
The (ir)relevance of the abandoned criterion II for the diagnosis of serrated polyposis syndrome: a retrospective cohort study. 61
31853684 2020
21
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
22
Ocular manifestations in celiac disease: an overview. 61
31916055 2020
23
A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors. 61
32051178 2020
24
Sessile Serrated Polyposis: Not an Inherited Syndrome? 61
31914111 2020
25
Personalised surveillance for serrated polyposis syndrome: results from a prospective 5-year international cohort study. 61
30981990 2020
26
Hereditary or Not? Understanding Serrated Polyposis Syndrome. 61
31673925 2019
27
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes. 61
31243857 2019
28
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing. 61
31663907 2019
29
Practical management of polyposis syndromes. 61
31656563 2019
30
Update on genetic predisposition to colorectal cancer and polyposis. 61
30862463 2019
31
Panchromoendoscopy Increases Detection of Polyps in Patients With Serrated Polyposis Syndrome. 61
30366156 2019
32
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
33
Endocuff-assisted colonoscopy for surveillance of serrated polyposis syndrome: a multicenter randomized controlled trial. 61
31174224 2019
34
Endoscopic control of polyp burden and expansion of surveillance intervals in serrated polyposis syndrome. 61
30465771 2019
35
Serrated polyposis syndrome: time to rethink endoscopic treatment and surveillance. 61
31228973 2019
36
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. 61
31227763 2019
37
Screening Relevance of Sessile Serrated Polyps. 61
30625264 2019
38
BRAF mutation: Current and future clinical pathological applications in colorectal carcinoma. 61
30592501 2019
39
High prevalence of advanced colorectal neoplasia and serrated polyposis syndrome in Hodgkin lymphoma survivors. 61
30561773 2019
40
Reasons why the diagnosis of serrated polyposis syndrome is missed. 61
30520764 2019
41
Diagnosis of Serrated Polyposis Syndrome in an Adolescent Patient. 61
30428696 2019
42
[French comment on article High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome]. 61
30695810 2019
43
High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome. 61
30068004 2019
44
An Update on Inherited Colon Cancer and Gastrointestinal Polyposis. 61
31409085 2019
45
Aspects of the Natural History of Sessile Serrated Adenomas/Polyps: Risk Indicators for Carcinogenesis in the Colorectal Mucosa? 61
30346367 2018
46
Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis. 61
29330307 2018
47
[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
48
The clinical significance and synchronous polyp burden of large (≥ 20 mm) sessile serrated polyps in patients without serrated polyposis syndrome. 61
29739023 2018
49
Adenocarcinoma of the anal canal with an exceptional immunohistochemistry in a patient with serrated polyposis syndrome: a diagnostic challenge. 61
30168336 2018
50
Serrated polyposis syndrome may go undiagnosed even in structured colorectal cancer screening programmes performed by endoscopists with otherwise good quality indices. 61
29055909 2018

Variations for Serrated Polyposis Syndrome

ClinVar genetic disease variations for Serrated Polyposis Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF43 NM_001305545.1(RNF43):c.-45C>T SNV Pathogenic 254140 rs1567880628 GRCh37: 17:56448310-56448310
GRCh38: 17:58370949-58370949
2 RNF43 NM_017763.5(RNF43):c.394C>T (p.Arg132Ter) SNV Pathogenic 190226 rs786205215 GRCh37: 17:56440943-56440943
GRCh38: 17:58363582-58363582
3 APC NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) Microsatellite Pathogenic 816 rs121913224 GRCh37: 5:112175212-112175216
GRCh38: 5:112839515-112839519
4 RNF43 NM_017763.6(RNF43):c.1976dup (p.Pro660fs) Duplication Pathogenic 1031999 GRCh37: 17:56435160-56435161
GRCh38: 17:58357799-58357800

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

Expression for Serrated Polyposis Syndrome

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

Pathways for Serrated Polyposis Syndrome

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 PTEN KRAS BRAF APC
2 12.43 PTEN KRAS BRAF APC
3
Show member pathways
12.29 PTEN KRAS BRAF APC
4 12.26 PTEN KRAS APC
5
Show member pathways
12.13 PTEN KRAS BRAF
6
Show member pathways
12.09 PTEN KRAS BRAF APC
7
Show member pathways
11.96 PTEN KRAS BRAF
8 11.89 KRAS BRAF APC
9 11.87 PTEN KRAS BRAF
10 11.8 PTEN KRAS BRAF
11
Show member pathways
11.73 PTEN KRAS BRAF APC
12
Show member pathways
11.68 PTEN KRAS BRAF
13 11.49 PTEN KRAS APC
14 11.34 PTEN APC
15 11.22 KRAS BRAF
16 11.16 KRAS BRAF
17 11.14 PTEN APC
18 11.07 KRAS BRAF
19 11.01 PTEN KRAS
20 11 KRAS APC
21 10.97 PTEN KRAS BRAF APC
22 10.94 KRAS BRAF

GO Terms for Serrated Polyposis Syndrome

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

Sources for Serrated 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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