MCID: HYP466
MIFTS: 38

Hyperplastic Polyposis Syndrome

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Hyperplastic Polyposis Syndrome

MalaCards integrated aliases for Hyperplastic Polyposis Syndrome:

Name: Hyperplastic Polyposis Syndrome 59
Serrated Polyposis 59

Characteristics:

Orphanet epidemiological data:

59
hyperplastic polyposis syndrome
Inheritance: Autosomal dominant,Multigenic/multifactorial;

Classifications:



External Ids:

Orphanet 59 ORPHA157798
ICD10 via Orphanet 34 D12.6

Summaries for Hyperplastic Polyposis Syndrome

MalaCards based summary : Hyperplastic Polyposis Syndrome, also known as serrated polyposis, is related to adenocarcinoma and colorectal cancer. An important gene associated with Hyperplastic 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, lung and brain, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

Related Diseases for Hyperplastic Polyposis Syndrome

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 adenocarcinoma 29.7 APC BRAF KRAS TP53
2 colorectal cancer 29.6 APC BRAF KRAS MUTYH RNF43 TP53
3 adenoma 29.3 APC BRAF KRAS MUTYH TP53
4 sessile serrated polyposis cancer syndrome 12.7
5 inflammatory bowel disease 10.3
6 polyposis syndrome, hereditary mixed, 1 10.2 APC MUTYH
7 attenuated familial adenomatous polyposis 10.2 APC MUTYH
8 juvenile polyposis syndrome 10.1 APC MUTYH
9 periampullary adenoma 10.1 APC KRAS
10 duodenum cancer 10.1 KRAS MUTYH
11 urachal adenocarcinoma 10.1 BRAF KRAS
12 syringocystadenoma papilliferum 10.1 BRAF KRAS
13 colonic benign neoplasm 10.1 BRAF KRAS
14 pilocytic astrocytoma 10.1 BRAF KRAS
15 colon adenoma 10.1 APC KRAS
16 villous adenoma 10.1 BRAF KRAS
17 pilomyxoid astrocytoma 10.1 BRAF KRAS
18 pulmonic stenosis 10.1 BRAF KRAS
19 anal canal adenocarcinoma 10.0
20 cardiofaciocutaneous syndrome 1 10.0 BRAF KRAS
21 anal squamous cell carcinoma 10.0 APC TP53
22 nevus of ota 10.0 BRAF TP53
23 spitz nevus 10.0 BRAF TP53
24 pleomorphic xanthoastrocytoma 10.0 BRAF TP53
25 rare adenocarcinoma of the breast 10.0 KRAS TP53
26 nasal cavity adenocarcinoma 10.0 KRAS TP53
27 pulmonary blastoma 9.9 KRAS TP53
28 biliary papillomatosis 9.9 KRAS TP53
29 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 9.9 KRAS TP53
30 biliary tract neoplasm 9.9 KRAS TP53
31 liver angiosarcoma 9.9 KRAS TP53
32 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
33 colitis 9.9
34 lymphocytic colitis 9.9
35 pseudomyxoma peritonei 9.9 KRAS TP53
36 giant cell glioblastoma 9.9 BRAF TP53
37 ampulla of vater cancer 9.9 KRAS TP53
38 gastrointestinal system benign neoplasm 9.9 KRAS TP53
39 bile duct adenocarcinoma 9.9 KRAS TP53
40 ganglioglioma 9.9 BRAF TP53
41 barrett's adenocarcinoma 9.9 KRAS TP53
42 ovary adenocarcinoma 9.9 KRAS TP53
43 ovarian clear cell carcinoma 9.9 KRAS TP53
44 brain stem glioma 9.9 BRAF TP53
45 peutz-jeghers syndrome 9.9 APC TP53
46 lung benign neoplasm 9.9 KRAS TP53
47 ovarian cancer 1 9.9 KRAS TP53
48 malignant ovarian surface epithelial-stromal neoplasm 9.9 KRAS TP53
49 ovary epithelial cancer 9.9 KRAS TP53
50 familial colorectal cancer 9.9 APC MUTYH TP53

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



Diseases related to Hyperplastic Polyposis Syndrome

Symptoms & Phenotypes for Hyperplastic Polyposis Syndrome

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 BRAF MBD4 MUTYH TP53

MGI Mouse Phenotypes related to Hyperplastic Polyposis Syndrome:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.04 APC BRAF KRAS MBD4 MUTYH RNF43
2 digestive/alimentary MP:0005381 9.93 APC BRAF KRAS MBD4 RNF43 TP53
3 craniofacial MP:0005382 9.88 APC BRAF KRAS MBD4 TP53
4 embryo MP:0005380 9.83 APC BRAF KRAS MBD4 TP53
5 endocrine/exocrine gland MP:0005379 9.8 APC BRAF KRAS RNF43 TP53
6 neoplasm MP:0002006 9.8 APC BRAF KRAS MBD4 MUTYH RNF43
7 limbs/digits/tail MP:0005371 9.72 APC BRAF KRAS MBD4 TP53
8 hearing/vestibular/ear MP:0005377 9.67 APC BRAF KRAS TP53
9 nervous system MP:0003631 9.63 APC BRAF KRAS MBD4 MUTYH TP53
10 pigmentation MP:0001186 9.26 APC BRAF KRAS TP53
11 vision/eye MP:0005391 9.02 APC BRAF KRAS MBD4 TP53

Drugs & Therapeutics for Hyperplastic Polyposis Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chromoendoscopy for Serrated Polyposis Syndrome Completed NCT03476434 Not Applicable
2 Endocuff for Surveillance of Serrated Polyposis Syndrome Completed NCT02592603 Not Applicable
3 Study of Narrow Band Imaging in the Characterization of Serrated Lesions Completed NCT02406547 Not Applicable
4 Personalized Surveillance Protocol for Serrated Polyposis Syndrome Active, not recruiting NCT03450889

Search NIH Clinical Center for Hyperplastic Polyposis Syndrome

Genetic Tests for Hyperplastic Polyposis Syndrome

Anatomical Context for Hyperplastic Polyposis Syndrome

MalaCards organs/tissues related to Hyperplastic Polyposis Syndrome:

41
Colon, Lung, Brain, Liver, Bone, Ovary, Thyroid

Publications for Hyperplastic Polyposis Syndrome

Articles related to Hyperplastic Polyposis Syndrome:

(show top 50) (show all 83)
# Title Authors Year
1
Atypical Colonoscopic Presentation of Lymphocytic Colitis Mimicking Hyperplastic Polyposis Syndrome. ( 29637040 )
2018
2
Adenocarcinoma of the anal canal with an exceptional immunohistochemistry in a patient with serrated polyposis syndrome: a diagnostic challenge. ( 30168336 )
2018
3
Serrated polyposis syndrome. ( 28688626 )
2018
4
Serrated polyposis syndrome may go undiagnosed even in structured colorectal cancer screening programmes performed by endoscopists with otherwise good quality indices. ( 29055909 )
2018
5
Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis. ( 29330307 )
2018
6
Serrated Polyposis Syndrome in a Single-Center 10-Year Experience. ( 29400307 )
2018
7
The clinical significance and synchronous polyp burden of large (≥ 20 mm) sessile serrated polyps in patients without serrated polyposis syndrome. ( 29739023 )
2018
8
Acetic acid spray contribution in the endoscopic diagnosis of serrated polyposis syndrome. ( 29905183 )
2018
9
High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome. ( 30068004 )
2018
10
Panchromoendoscopy Increases Detection of Polyps in Patients With Serrated Polyposis Syndrome. ( 30366156 )
2018
11
Diagnosis of Serrated Polyposis Syndrome in an Adolescent Patient. ( 30428696 )
2018
12
Endoscopic control of polyp burden and expansion of surveillance intervals in serrated polyposis syndrome. ( 30465771 )
2018
13
Reasons why the diagnosis of serrated polyposis syndrome is missed. ( 30520764 )
2018
14
Detection rate of serrated polyps and serrated polyposis syndrome in colorectal cancer screening cohorts: a European overview. ( 26911398 )
2017
15
Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study. ( 27582512 )
2017
16
Reassessment colonoscopy to diagnose serrated polyposis syndrome in a colorectal cancer screening population. ( 27741536 )
2017
17
Prevalence of serrated polyposis syndrome in an FIT-based colorectal cancer screening cohort in Italy. ( 27852794 )
2017
18
Reducing the polyp burden in serrated polyposis by serial colonoscopy: the impact of nationally coordinated community surveillance. ( 28253245 )
2017
19
A Case with Serrated Polyposis Syndrome Controlled by Multiple Applications of Endoscopic Mucosal Resection and Endoscopic Submucosal Dissection. ( 28341823 )
2017
20
Serrated lesions and serrated polyposis syndrome. ( 28530106 )
2017
21
Clinical characteristics of patients with serrated polyposis syndrome in Korea: comparison with Western patients. ( 28670238 )
2017
22
Clinical predictors for sessile serrated polyposis syndrome: A case control study. ( 28979711 )
2017
23
Serrated polyposis syndrome associated with long-standing inflammatory bowel disease. ( 29027468 )
2017
24
Multiple Serrated Polyps and Serrated Polyposis Syndrome: Equally Hazardous? ( 29107712 )
2017
25
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). ( 29213343 )
2017
26
Colorectal cancer risk factors in patients with serrated polyposis syndrome: a large multicentre study. ( 26264224 )
2016
27
Endoscopic and histologic findings in serrated polyposis syndrome. ( 26518523 )
2016
28
Serrated polyposis syndrome: a silent killer when undetected. ( 26890540 )
2016
29
Serrated polyposis syndrome: risk stratification or reduction? ( 26907826 )
2016
30
Type 1 serrated polyposis represents a predominantly female disease with a high prevalence of dysplastic serrated adenomas, without germline mutation in MUTYH, APC, and PTEN genes. ( 27087961 )
2016
31
Serrated polyposis associated with a family history of colorectal cancer and/or polyps: The preferential location of polyps in the colon and rectum defines two molecular entities. ( 27430658 )
2016
32
The molecular characteristics of colonic neoplasms in serrated polyposis: a systematic review and meta-analysis. ( 27499922 )
2016
33
Yield of screening colonoscopy in first-degree relatives of patients with serrated polyposis syndrome. ( 24583756 )
2015
34
Narrow-band imaging for the detection of polyps in patients with serrated polyposis syndrome: a multicenter, randomized, back-to-back trial. ( 25088921 )
2015
35
Prevalence of serrated polyposis syndrome and its association with synchronous advanced adenoma and lifestyle. ( 25469272 )
2015
36
Risk of Colorectal and Other Cancers in Patients With Serrated Polyposis. ( 25681317 )
2015
37
Clinicopathological Characteristics of Serrated Polyposis Syndrome in Korea: Single Center Experience. ( 26064099 )
2015
38
Low prevalence of serrated polyposis syndrome in screening populations: a systematic review. ( 26126164 )
2015
39
Three Colon Adenocarcinomas Arising in a Patient with Serrated Polyposis Syndrome: Case Report and Review of the Literature. ( 26286237 )
2014
40
Is one colonoscopy sufficient to diagnose serrated polyposis syndrome? ( 24362048 )
2014
41
Incidence of colonic neoplasia in patients with serrated polyposis syndrome who undergo annual endoscopic surveillance. ( 24657624 )
2014
42
The endoscopist's guide to serrated polyposis. ( 24702773 )
2014
43
Colorectal cancer: serrated polyposis--should we screen first-degree relatives? ( 24751913 )
2014
44
Phenotype characteristics of patients with colonic serrated polyposis syndrome: a study of 23 cases. ( 24795265 )
2014
45
Utilization of colonoscopy and pathology reports for identifying patients meeting the world health organization criteria for serrated polyposis syndrome. ( 24901685 )
2014
46
Serrated polyposis syndrome. ( 24952723 )
2014
47
A rare case series of concomitant inflammatory bowel disease, sporadic adenomas, and serrated polyposis syndrome. ( 25047878 )
2014
48
Endoscopic management for patients with serrated polyposis syndrome is feasible and effective: a prospective observational study at a tertiary centre. ( 25111719 )
2014
49
Phenotypic characterization and familial risk in hyperplastic polyposis syndrome. ( 24047395 )
2013
50
High prevalence of hyperplastic polyposis syndrome (serrated polyposis) in the NHS bowel cancer screening programme. ( 22851664 )
2013

Variations for Hyperplastic Polyposis Syndrome

Copy number variations for Hyperplastic Polyposis Syndrome from CNVD:

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

Expression for Hyperplastic Polyposis Syndrome

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

Pathways for Hyperplastic Polyposis Syndrome

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

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 APC BRAF KRAS TP53
2 12.48 APC BRAF KRAS TP53
3 12.38 APC BRAF KRAS
4
Show member pathways
12.37 APC BRAF KRAS TP53
5
Show member pathways
12.29 BRAF KRAS TP53
6 12.27 APC KRAS TP53
7
Show member pathways
12.25 APC BRAF KRAS TP53
8
Show member pathways
12.24 BRAF KRAS TP53
9
Show member pathways
12.17 APC BRAF KRAS
10 12.17 APC KRAS TP53
11 12.03 BRAF KRAS TP53
12
Show member pathways
11.99 BRAF KRAS TP53
13
Show member pathways
11.96 BRAF KRAS TP53
14
Show member pathways
11.92 BRAF KRAS TP53
15
Show member pathways
11.92 APC BRAF KRAS TP53
16 11.89 BRAF KRAS TP53
17
Show member pathways
11.85 BRAF KRAS TP53
18
Show member pathways
11.83 APC RNF43 TP53
19 11.73 BRAF KRAS TP53
20 11.6 APC KRAS TP53
21 11.47 KRAS TP53
22 11.47 KRAS TP53
23 11.47 APC BRAF KRAS TP53
24
Show member pathways
11.46 BRAF KRAS
25 11.42 BRAF KRAS
26 11.37 APC TP53
27 11.3 BRAF KRAS TP53
28 11.25 BRAF KRAS
29 11.18 APC TP53
30 11.14 BRAF KRAS
31 11.05 APC KRAS
32 11 BRAF KRAS
33 10.97 APC BRAF KRAS TP53

GO Terms for Hyperplastic Polyposis Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to drug GO:0035690 9.32 BRAF TP53
2 negative regulation of Wnt signaling pathway GO:0030178 9.26 APC RNF43
3 visual learning GO:0008542 9.16 BRAF KRAS
4 base-excision repair GO:0006284 8.96 MUTYH TP53
5 cellular response to DNA damage stimulus GO:0006974 8.92 APC MBD4 MUTYH TP53

Molecular functions related to Hyperplastic Polyposis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA N-glycosylase activity GO:0019104 8.62 MBD4 MUTYH

Sources for Hyperplastic Polyposis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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