MCID: HYP466
MIFTS: 34

Hyperplastic Polyposis Syndrome malady

Gastrointestinal diseases, Cancer diseases, Rare diseases categories

Summaries for Hyperplastic Polyposis Syndrome

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MalaCards based summary: Hyperplastic Polyposis Syndrome, also known as serrated polyposis, is related to colorectal cancer and intestinal neoplasm. 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.

Aliases & Classifications for Hyperplastic Polyposis Syndrome

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Sources:
47Orphanet, 26ICD10 via Orphanet
See all sources

Hyperplastic Polyposis Syndrome, Aliases & Descriptions:

Name: Hyperplastic Polyposis Syndrome 47
 
Serrated Polyposis 47


Classifications:

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


External Ids:

Orphanet47 157798
ICD10 via Orphanet26 D12.6

Related Diseases for Hyperplastic Polyposis Syndrome

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer30.0TP53, APC, BRAF, MBD4, KRAS
2intestinal neoplasm10.4APC
3stomach cancer10.4TP53
4mismatch repair cancer syndrome10.3APC
5spitz nevus10.3BRAF
6inflammatory bowel disease10.2
7lung cancer10.1TP53, KRAS
8malignant mixed mullerian tumor10.1KRAS, TP53
9barrett esophagus/esophageal adenocarcinoma10.0APC, TP53
10cardiofaciocutaneous syndrome10.0BRAF, KRAS
11costello syndrome10.0BRAF, KRAS
12esophageal cancer10.0APC, TP53
13cystadenoma10.0KRAS, BRAF
14noonan syndrome 110.0BRAF, KRAS
15thyroid cancer, anaplastic10.0BRAF, TP53
16rectal neoplasm10.0APC, MUTYH, KRAS
17thyroid adenoma9.9BRAF, APC
18seminoma9.9KRAS, BRAF
19gallbladder cancer9.9TP53, KRAS, APC
20lung benign neoplasm9.9KRAS, TP53, APC
21thyroid carcinoma, papillary9.9APC, BRAF
22retinoblastoma9.8APC, KRAS, TP53
23gastric adenocarcinoma9.8APC, KRAS
24cholangiocarcinoma9.8TP53, KRAS, BRAF
25lung cancer susceptibility 39.8BRAF, TP53, KRAS
26endometrial cancer9.8TP53, BRAF, KRAS
27cervical cancer, somatic9.8BRAF, TP53, KRAS
28thyroid cancer9.8BRAF, APC
29sarcoma9.8KRAS, TP53, BRAF
30tongue squamous cell carcinoma9.7KRAS, TP53, APC
31prostate cancer9.7KRAS, TP53, APC, MBD4
32ovarian cancer, somatic9.6BRAF, KRAS, TP53
33pancreatic cancer9.6MBD4, KRAS, TP53, BRAF
34hepatocellular carcinoma9.5APC, MUTYH, KRAS, MBD4, TP53
35adenocarcinoma9.5BRAF, KRAS, TP53, APC
36lynch syndrome9.4APC, TP53, KRAS, MUTYH, BRAF
37adenomatous polyposis coli9.4APC, MUTYH, KRAS, TP53, BRAF
38adenoma9.4KRAS, MUTYH, BRAF, TP53, APC
39gastric cancer, somatic9.4APC, MUTYH, BRAF, KRAS, TP53
40breast cancer9.3MBD4, 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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Drugs & Therapeutics for Hyperplastic Polyposis Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hyperplastic Polyposis Syndrome

Search NIH Clinical Center for Hyperplastic Polyposis Syndrome

Genetic Tests for Hyperplastic Polyposis Syndrome

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Anatomical Context for Hyperplastic Polyposis Syndrome

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MalaCards organs/tissues related to Hyperplastic Polyposis Syndrome:

31
Colon

Animal Models for Hyperplastic Polyposis Syndrome or affiliated genes

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Publications for Hyperplastic Polyposis Syndrome

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Articles related to Hyperplastic Polyposis Syndrome:

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

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Expression for genes affiliated with Hyperplastic Polyposis Syndrome

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

Pathways for genes affiliated with Hyperplastic Polyposis Syndrome

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

(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
59.1BRAF, KRAS
6
Show member pathways
9.1KRAS, BRAF
7
Show member pathways
9.1KRAS, BRAF
8
Show member pathways
9.1BRAF, KRAS
99.1KRAS, BRAF
10
Show member pathways
9.1KRAS, BRAF
11
Show member pathways
9.1KRAS, BRAF
129.1KRAS, BRAF
139.1KRAS, BRAF
14
Show member pathways
9.1TP53, BRAF
15
Show member pathways
9.1BRAF, TP53
169.1TP53, BRAF
17
Show member pathways
RAC1 signaling pathway36
9.0BRAF, APC
18
Show member pathways
8.8KRAS, TP53, APC
198.8KRAS, TP53, APC
208.8KRAS, TP53, APC
218.8KRAS, TP53, APC
22
Show member pathways
8.6KRAS, BRAF, TP53
238.6TP53, BRAF, KRAS
24
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
8.6TP53, BRAF, KRAS
25
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.6TP53, BRAF, KRAS
26
Show member pathways
8.6TP53, BRAF, KRAS
278.6KRAS, BRAF, TP53
28
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
8.6TP53, BRAF, KRAS
29
Show member pathways
MAPK signaling pathway36
8.6TP53, BRAF, KRAS
308.6KRAS, BRAF, TP53
31
Show member pathways
Signaling Pathways in Glioblastoma36
8.6TP53, BRAF, KRAS
328.6KRAS, BRAF, TP53
33
Show member pathways
8.5APC, BRAF, KRAS
348.5APC, TP53, BRAF
358.5APC, TP53, BRAF
368.0KRAS, BRAF, TP53, APC
37
Show member pathways
Signal transduction PTEN pathway58
8.0KRAS, BRAF, TP53, APC
38
Show member pathways
8.0APC, TP53, BRAF, KRAS

Compounds for genes affiliated with Hyperplastic Polyposis Syndrome

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

(show all 42)
idCompoundScoreTop Affiliating Genes
18-oxo-dg439.9TP53, MUTYH
2af/ap439.9MUTYH, APC
38-oxoguanine439.8APC, MUTYH
4pyrimidine43 2410.8MBD4, MUTYH
5mononucleotide439.8MBD4, APC
6oxaliplatin43 49 1211.7TP53, KRAS
7sulindac43 1210.6TP53, APC
8methylmethanesulfonate439.6APC, TP53
9panitumumab43 49 1211.5KRAS, BRAF
10regorafenib49 1210.5KRAS, BRAF
11cetuximab43 49 1211.5KRAS, BRAF
12cytosine43 2410.4MBD4, APC
13nocodazole43 1210.4TP53, APC
14depsipeptide439.4TP53, BRAF
155fluorouracil439.4TP53, KRAS, MBD4
165-methylcytosine43 2410.3MBD4, TP53, APC
175-aza-2deoxycytidine439.3MBD4, TP53, APC
18geldanamycin43 49 59 1212.2BRAF, TP53
19h2o2439.2TP53, MUTYH, KRAS
20p002439.1KRAS, BRAF
21irinotecan43 49 1211.0KRAS, BRAF, TP53
22thymine43 2410.0APC, BRAF, MBD4
23paclitaxel43 49 1211.0KRAS, BRAF, TP53
24ly294002438.9KRAS, BRAF, TP53
25guanine43 24 1210.9MBD4, MUTYH, TP53, APC
26rapamycin438.9APC, BRAF, KRAS
27wortmannin438.8APC, BRAF, KRAS
28phosphoinositide438.8KRAS, BRAF, APC
29gtp43 289.8APC, BRAF, KRAS
30fatty acid438.8KRAS, BRAF, APC
31progesterone43 28 59 24 1212.7BRAF, TP53, APC
32cisplatin43 49 59 1211.6TP53, BRAF, MUTYH, KRAS
33adenine43 24 1210.6APC, BRAF, MUTYH, MBD4
34vegf438.5TP53, BRAF, KRAS
35o6-methylguanine438.4KRAS, BRAF, TP53, APC
36crcs438.4APC, TP53, BRAF, KRAS
37paraffin438.4APC, TP53, BRAF, KRAS
38estrogen438.4APC, TP53, BRAF, KRAS
39retinoic acid43 249.4KRAS, BRAF, TP53, APC
40serine438.2KRAS, BRAF, TP53, APC
41phosphatidylinositol438.2KRAS, BRAF, APC
42oligonucleotide438.0APC, TP53, BRAF, KRAS, MBD4

GO Terms for genes affiliated with Hyperplastic Polyposis Syndrome

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Cellular components related to Hyperplastic Polyposis Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatinGO:00007859.2MBD4, TP53
2nucleusGO:00056347.6MBD4, MUTYH, BRAF, TP53, APC

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1base-excision repair, AP site formationGO:00062859.7MBD4, MUTYH
2T cell differentiation in thymusGO:00330779.4TP53, APC
3Ras protein signal transductionGO:00072659.3KRAS, TP53
4base-excision repairGO:00062849.2MBD4, MUTYH, TP53
5activation of MAPKK activityGO:00001869.1BRAF, KRAS
6negative regulation of neuron apoptotic processGO:00435249.1KRAS, BRAF
7protein complex assemblyGO:00064619.0TP53, APC

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055157.1MBD4, KRAS, MUTYH, BRAF, TP53, APC

Products for genes affiliated with Hyperplastic Polyposis Syndrome

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Sources for Hyperplastic Polyposis Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet