MCID: HYP466
MIFTS: 32

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 55
Serrated Polyposis 55

Characteristics:

Orphanet epidemiological data:

55
hyperplastic polyposis syndrome
Inheritance: Autosomal dominant,Multigenic/multifactorial;

Classifications:



External Ids:

Orphanet 55 ORPHA157798
ICD10 via Orphanet 33 D12.6

Summaries for Hyperplastic Polyposis Syndrome

MalaCards based summary : Hyperplastic Polyposis Syndrome, also known as serrated polyposis, is related to colorectal cancer and sessile serrated polyposis cancer syndrome. 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. Affiliated tissues include colon, 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 75)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer 28.5 APC BRAF KRAS MUTYH RNF43 TP53
2 sessile serrated polyposis cancer syndrome 12.5
3 polyposis syndrome, hereditary mixed, 1 10.3 APC MUTYH
4 attenuated familial adenomatous polyposis 10.3 APC MUTYH
5 duodenum cancer 10.3 KRAS MUTYH
6 periampullary adenoma 10.3 APC KRAS
7 tumor suppressor gene on chromosome 11 10.2 BRAF KRAS
8 syringocystadenoma papilliferum 10.2 BRAF KRAS
9 struma ovarii 10.2 BRAF KRAS
10 villous adenoma 10.2 BRAF KRAS
11 colon adenoma 10.2 APC KRAS
12 pulmonic stenosis 10.2 BRAF KRAS
13 small intestinal adenocarcinoma 10.1 BRAF KRAS
14 nasal cavity adenocarcinoma 10.1 KRAS TP53
15 pulmonary blastoma 10.1 KRAS TP53
16 biliary papillomatosis 10.1 KRAS TP53
17 cardiofaciocutaneous syndrome 1 10.1 BRAF KRAS
18 ovary adenocarcinoma 10.1 KRAS TP53
19 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.1 KRAS TP53
20 mixed cell type cancer 10.1 KRAS TP53
21 juvenile polyposis syndrome 10.1 APC MUTYH
22 anal squamous cell carcinoma 10.1 APC TP53
23 biliary tract neoplasm 10.1 KRAS TP53
24 liver angiosarcoma 10.1 KRAS TP53
25 pseudomyxoma peritonei 10.1 KRAS TP53
26 mucinous adenocarcinoma 10.1 KRAS TP53
27 barrett's adenocarcinoma 10.1 KRAS TP53
28 nevus of ota 10.1 BRAF TP53
29 cerebellar astrocytoma 10.1 BRAF TP53
30 bile duct adenocarcinoma 10.1 KRAS TP53
31 spitz nevus 10.1 BRAF TP53
32 ovarian clear cell carcinoma 10.1 KRAS TP53
33 lip cancer 10.1 BRAF TP53
34 acinar cell carcinoma 10.1 APC TP53
35 pleomorphic xanthoastrocytoma 10.1 BRAF TP53
36 malignant ovarian surface epithelial-stromal neoplasm 10.0 KRAS TP53
37 ovary epithelial cancer 10.0 KRAS TP53
38 lung benign neoplasm 10.0 KRAS TP53
39 ovarian serous carcinoma 10.0 KRAS TP53
40 adenosquamous carcinoma 10.0 KRAS TP53
41 ganglioglioma 10.0 BRAF TP53
42 giant cell glioblastoma 9.9 BRAF TP53
43 skin squamous cell carcinoma 9.9 BRAF TP53
44 endometrial adenocarcinoma 9.9 KRAS TP53
45 peutz-jeghers syndrome 9.9 APC TP53
46 gastrointestinal system benign neoplasm 9.9 KRAS MUTYH TP53
47 inflammatory bowel disease 9.9
48 cell type benign neoplasm 9.9 KRAS MUTYH TP53
49 colorectal adenoma 9.9 KRAS MUTYH TP53
50 rectal neoplasm 9.9 KRAS 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:

25
# 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:

43 (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 hearing/vestibular/ear MP:0005377 9.67 APC BRAF KRAS TP53
8 nervous system MP:0003631 9.63 TP53 APC BRAF KRAS MBD4 MUTYH
9 limbs/digits/tail MP:0005371 9.62 APC KRAS MBD4 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

Search Clinical Trials , 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:

38
Colon

Publications for Hyperplastic Polyposis Syndrome

Articles related to Hyperplastic Polyposis Syndrome:

(show all 21)
# Title Authors Year
1
[Hyperplastic polyposis syndrome: phenotypic diversity and association to colorectal cancer]. ( 22809968 )
2013
2
High prevalence of hyperplastic polyposis syndrome (serrated polyposis) in the NHS bowel cancer screening programme. ( 22851664 )
2013
3
Phenotypic characterization and familial risk in hyperplastic polyposis syndrome. ( 24047395 )
2013
4
Development of invasive colon cancer with microsatellite instability in a patient with hyperplastic polyposis syndrome. ( 22438407 )
2012
5
Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation. ( 22570761 )
2012
6
Hyperplastic polyposis syndrome and the risk of colorectal cancer. ( 21636642 )
2012
7
Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome. ( 21347319 )
2011
8
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. ( 21228663 )
2011
9
Association of hyperplastic polyposis syndrome, colorectal cancer and meningioma. ( 21982888 )
2011
10
Increased polyp detection using narrow band imaging compared with high resolution endoscopy in patients with hyperplastic polyposis syndrome. ( 21811939 )
2011
11
A serrated colorectal cancer pathway predominates over the classic WNT pathway in patients with hyperplastic polyposis syndrome. ( 21641392 )
2011
12
Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study. ( 19710031 )
2010
13
Risk factors: Hyperplastic polyposis syndrome and risk of colorectal cancer. ( 21042338 )
2010
14
Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome. ( 20584785 )
2010
15
Hyperplastic polyposis syndrome is associated with cigarette smoking, which may be a modifiable risk factor. ( 20125129 )
2010
16
A perspective on bi-allelic MUTYH mutations in patients with hyperplastic polyposis syndrome. ( 19406141 )
2009
17
Is the phenotype mixed or mistaken? Hereditary nonpolyposis colorectal cancer and hyperplastic polyposis syndrome. ( 19934914 )
2009
18
Hyperplastic polyposis syndrome: a pilot study for the differentiation of polyps by using high-resolution endoscopy, autofluorescence imaging, and narrow-band imaging. ( 19595313 )
2009
19
Molecular classification and genetic pathways in hyperplastic polyposis syndrome. ( 17503413 )
2007
20
Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. ( 16831587 )
2006
21
Colorectal carcinomas arising in the hyperplastic polyposis syndrome progress through the chromosomal instability pathway. ( 10934143 )
2000

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 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 APC BRAF KRAS TP53
2 12.5 APC BRAF KRAS TP53
3
Show member pathways
12.43 BRAF KRAS TP53
4
Show member pathways
12.4 APC BRAF KRAS TP53
5 12.38 APC BRAF KRAS
6
Show member pathways
12.34 BRAF KRAS TP53
7
Show member pathways
12.3 APC BRAF KRAS TP53
8 12.29 APC KRAS TP53
9
Show member pathways
12.25 BRAF KRAS TP53
10
Show member pathways
12.25 BRAF KRAS TP53
11 12.19 APC KRAS TP53
12
Show member pathways
12.11 APC KRAS TP53
13 12.03 BRAF KRAS TP53
14
Show member pathways
12.01 BRAF KRAS TP53
15
Show member pathways
11.99 BRAF KRAS TP53
16
Show member pathways
11.92 BRAF KRAS TP53
17
Show member pathways
11.92 APC BRAF KRAS TP53
18 11.89 BRAF KRAS TP53
19
Show member pathways
11.87 BRAF KRAS TP53
20
Show member pathways
11.85 BRAF KRAS TP53
21 11.75 BRAF KRAS TP53
22 11.64 APC KRAS TP53
23 11.48 KRAS TP53
24 11.48 KRAS TP53
25
Show member pathways
11.48 BRAF KRAS
26 11.47 APC BRAF KRAS TP53
27 11.44 BRAF KRAS
28 11.4 BRAF KRAS TP53
29 11.38 APC TP53
30 11.3 BRAF KRAS TP53
31 11.26 BRAF KRAS
32 11.19 APC TP53
33 11.14 BRAF KRAS
34 11.07 APC KRAS
35 10.99 BRAF KRAS
36 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 positive regulation of gene expression GO:0010628 9.5 BRAF KRAS 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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