MCID: HYP466
MIFTS: 43

Hyperplastic Polyposis Syndrome malady

Gastrointestinal diseases, Cancer diseases, Rare diseases categories

Summaries for Hyperplastic Polyposis Syndrome

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48OMIM, 34MalaCards
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MalaCards: Hyperplastic Polyposis Syndrome, also known as serrated polyposis, is related to colorectal cancer and colon cancer. An important gene associated with Hyperplastic Polyposis Syndrome is MUTYH (mutY homolog), and among its related pathways are Resolution of Abasic Sites (AP sites) and DNA Repair. The compounds 8-oxo-dg and af/ap have been mentioned in the context of this disorder. Affiliated tissues include colon, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

Description from OMIM:48 175020

Aliases & Classifications for Hyperplastic Polyposis Syndrome

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50Orphanet, 48OMIM, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Rare diseases
Anatomical: Gastrointestinal diseases


Characteristics (Orphanet epidemiological data):

50
hyperplastic polyposis syndrome:
Prevalence: 1-5/10000


Aliases & Descriptions:

hyperplastic polyposis syndrome 50 48
serrated polyposis 50


External Ids:

OMIM48 175020
ICD10 via Orphanet27 D12.6

Related Diseases for Hyperplastic Polyposis Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Hyperplastic Polyposis Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer30.5KRAS, MUTYH, BRAF, TP53, APC, MBD4
2colon cancer30.1TP53, APC, BRAF, MBD4, KRAS
3inflammatory bowel disease10.2
4intestinal neoplasm10.1APC
5stomach cancer10.1TP53
6turcot syndrome10.1APC
7spitz nevus10.1BRAF
8lung cancer10.0TP53, KRAS
9malignant mixed mullerian tumor10.0KRAS, TP53
10barrett's esophagus10.0APC, TP53
11cardiofaciocutaneous syndrome10.0BRAF, KRAS
12costello syndrome10.0BRAF, KRAS
13esophageal cancer10.0APC, TP53
14cystadenoma10.0KRAS, BRAF
15noonan syndrome10.0BRAF, KRAS
16gastric cancer, somatic10.0KRAS, APC, MUTYH
17thyroid cancer, anaplastic10.0BRAF, TP53
18rectal neoplasm10.0APC, MUTYH, KRAS
19thyroid adenoma10.0BRAF, APC
20seminoma10.0KRAS, BRAF
21gallbladder cancer10.0TP53, KRAS, APC
22lung benign neoplasm10.0KRAS, TP53, APC
23papillary thyroid carcinoma10.0APC, BRAF
24retinoblastoma10.0APC, KRAS, TP53
25gastric adenocarcinoma10.0APC, KRAS
26cholangiocarcinoma10.0TP53, KRAS, BRAF
27non-small cell lung carcinoma10.0BRAF, TP53, KRAS
28lung adenocarcinoma10.0BRAF, TP53, KRAS
29endometrial carcinoma10.0TP53, BRAF, KRAS
30cervical cancer10.0BRAF, TP53, KRAS
31thyroid cancer9.9BRAF, APC
32sarcoma9.9KRAS, TP53, BRAF
33tongue squamous cell carcinoma9.9KRAS, TP53, APC
34prostate cancer9.9KRAS, TP53, APC, MBD4
35ovarian cancer9.9BRAF, KRAS, TP53
36pancreatic cancer9.9MBD4, KRAS, TP53, BRAF
37hepatocellular carcinoma9.9APC, MUTYH, KRAS, MBD4, TP53
38adenocarcinoma9.9BRAF, KRAS, TP53, APC
39lynch syndrome9.9APC, TP53, KRAS, MUTYH, BRAF
40familial adenomatous polyposis9.9APC, MUTYH, KRAS, TP53, BRAF
41adenoma9.9KRAS, MUTYH, BRAF, TP53, APC
42breast cancer9.8MBD4, APC, BRAF, TP53, KRAS

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



Diseases related to hyperplastic polyposis syndrome

Symptoms for Hyperplastic Polyposis Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

175020

Clinical features from OMIM:

175020

Drugs & Therapeutics for Hyperplastic Polyposis Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hyperplastic Polyposis Syndrome

Drug clinical trials:

Search ClinicalTrials for Hyperplastic Polyposis Syndrome

Search NIH Clinical Center for Hyperplastic Polyposis Syndrome

Search CenterWatch for Hyperplastic Polyposis Syndrome

Genetic Tests for Hyperplastic Polyposis Syndrome

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Anatomical Context for Hyperplastic Polyposis Syndrome

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34MalaCards
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MalaCards organs/tissues related to Hyperplastic Polyposis Syndrome:

34
Colon

Animal Models for Hyperplastic Polyposis Syndrome or affiliated genes

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38MGI
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Publications for Hyperplastic Polyposis Syndrome

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53PubMed
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Articles related to Hyperplastic Polyposis Syndrome:

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

Variations for Hyperplastic Polyposis Syndrome

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Expression for genes affiliated with Hyperplastic Polyposis Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperplastic Polyposis Syndrome

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

Pathways for genes affiliated with Hyperplastic Polyposis Syndrome

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Sources:
51PathCards, 56Reactome, 31KEGG, 55R&D Systems, 13EMD Millipore, 61Thomson Reuters, 52PharmGKB, 62Tocris Bioscience, 5Cell Signaling Technology, 54QIAGEN, 39NCBI BioSystems Database
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Pathways related to Hyperplastic Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 39)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6MUTYH, MBD4
2
Show member pathways
9.6MBD4, MUTYH
39.4KRAS, TP53
49.4KRAS, TP53
59.3TP53, APC
69.1BRAF, KRAS
7
Show member pathways
9.1KRAS, BRAF
8
Show member pathways
9.1KRAS, BRAF
9
Show member pathways
9.1BRAF, KRAS
109.1KRAS, BRAF
11
Show member pathways
9.1KRAS, BRAF
12
Show member pathways
9.1KRAS, BRAF
139.1KRAS, BRAF
149.1KRAS, BRAF
15
Show member pathways
9.1TP53, BRAF
16
Show member pathways
9.1BRAF, TP53
179.1TP53, BRAF
18
Show member pathways
RAC1 signaling pathway39
9.0BRAF, APC
19
Show member pathways
8.8KRAS, TP53, APC
208.8KRAS, TP53, APC
218.8KRAS, TP53, APC
228.8KRAS, TP53, APC
23
Show member pathways
8.6KRAS, BRAF, TP53
248.6TP53, BRAF, KRAS
25
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
8.6TP53, BRAF, KRAS
26
Show member pathways
ErbB receptor signaling network39
ErbB signaling pathway39
8.6TP53, BRAF, KRAS
27
Show member pathways
8.6TP53, BRAF, KRAS
288.6KRAS, BRAF, TP53
29
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
8.6TP53, BRAF, KRAS
30
Show member pathways
MAPK signaling pathway39
8.6TP53, BRAF, KRAS
318.6KRAS, BRAF, TP53
32
Show member pathways
Signaling Pathways in Glioblastoma39
8.6TP53, BRAF, KRAS
338.6KRAS, BRAF, TP53
34
Show member pathways
8.5APC, BRAF, KRAS
358.5APC, TP53, BRAF
368.5APC, TP53, BRAF
378.0KRAS, BRAF, TP53, APC
38
Show member pathways
Signal transduction PTEN pathway61
8.0KRAS, BRAF, TP53, APC
39
Show member pathways
8.0APC, TP53, BRAF, KRAS

Compounds for genes affiliated with Hyperplastic Polyposis Syndrome

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Sources:
46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Hyperplastic Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
18-oxo-dg469.9TP53, MUTYH
2af/ap469.9MUTYH, APC
38-oxoguanine469.8APC, MUTYH
4pyrimidine46 2510.8MBD4, MUTYH
5mononucleotide469.8MBD4, APC
6oxaliplatin46 52 1211.7TP53, KRAS
7sulindac46 1210.6TP53, APC
8methylmethanesulfonate469.6APC, TP53
9panitumumab46 52 1211.5KRAS, BRAF
10regorafenib52 1210.5KRAS, BRAF
11cetuximab46 52 1211.5KRAS, BRAF
12cytosine46 2510.4MBD4, APC
13nocodazole46 1210.4TP53, APC
14depsipeptide469.4TP53, BRAF
155fluorouracil469.4TP53, KRAS, MBD4
165-methylcytosine46 2510.3MBD4, TP53, APC
175-aza-2deoxycytidine469.3MBD4, TP53, APC
18geldanamycin46 52 62 1212.2BRAF, TP53
19h2o2469.2TP53, MUTYH, KRAS
20p002469.1KRAS, BRAF
21irinotecan46 52 1211.0KRAS, BRAF, TP53
22thymine46 2510.0APC, BRAF, MBD4
23paclitaxel46 52 1211.0KRAS, BRAF, TP53
24ly294002468.9KRAS, BRAF, TP53
25guanine46 25 1210.9MBD4, MUTYH, TP53, APC
26rapamycin468.9APC, BRAF, KRAS
27wortmannin468.8APC, BRAF, KRAS
28phosphoinositide468.8KRAS, BRAF, APC
29gtp46 309.8APC, BRAF, KRAS
30fatty acid468.8KRAS, BRAF, APC
31progesterone46 30 62 25 1212.7BRAF, TP53, APC
32cisplatin46 52 62 1211.6TP53, BRAF, MUTYH, KRAS
33adenine46 25 1210.6APC, BRAF, MUTYH, MBD4
34vegf468.5TP53, BRAF, KRAS
35o6-methylguanine468.4KRAS, BRAF, TP53, APC
36crcs468.4APC, TP53, BRAF, KRAS
37paraffin468.4APC, TP53, BRAF, KRAS
38estrogen468.4APC, TP53, BRAF, KRAS
39retinoic acid46 259.4KRAS, BRAF, TP53, APC
40serine468.2KRAS, BRAF, TP53, APC
41phosphatidylinositol468.2KRAS, BRAF, APC
42oligonucleotide468.0APC, TP53, BRAF, KRAS, MBD4

GO Terms for genes affiliated with Hyperplastic Polyposis Syndrome

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17Gene Ontology
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Cellular components related to Hyperplastic Polyposis Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatinGO:0007859.2MBD4, TP53
2nucleusGO:0056347.6MBD4, MUTYH, BRAF, TP53, APC

Biological processes related to Hyperplastic Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1base-excision repair, AP site formationGO:0062859.7MBD4, MUTYH
2T cell differentiation in thymusGO:0330779.4TP53, APC
3Ras protein signal transductionGO:0072659.3KRAS, TP53
4base-excision repairGO:0062849.2MBD4, MUTYH, TP53
5activation of MAPKK activityGO:0001869.1BRAF, KRAS
6negative regulation of neuron apoptotic processGO:0435249.1KRAS, BRAF
7protein complex assemblyGO:0064619.0TP53, APC

Molecular functions related to Hyperplastic Polyposis Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.1MBD4, KRAS, MUTYH, BRAF, TP53, APC

Products for genes affiliated with Hyperplastic Polyposis Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Hyperplastic Polyposis Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet