MCID: HYP466
MIFTS: 43

Hyperplastic Polyposis Syndrome malady

Gastrointestinal diseases, Cancer diseases, Rare diseases categories
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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, and has symptoms including 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:46 175020

Aliases & Classifications for Hyperplastic Polyposis Syndrome

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Sources:
48Orphanet, 46OMIM, 26ICD10 via Orphanet
See all sources

Hyperplastic Polyposis Syndrome, Aliases & Descriptions:

Name: Hyperplastic Polyposis Syndrome 48 46
 
Serrated Polyposis 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hyperplastic polyposis syndrome:
Prevalence: 1-5/10000


External Ids:

OMIM46 175020
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/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer29.8KRAS, MUTYH, BRAF, TP53, APC, MBD4
2intestinal neoplasm10.4APC
3stomach cancer10.4TP53
4turcot syndrome10.4APC
5spitz nevus10.3BRAF
6inflammatory bowel disease10.2
7colon cancer10.2
8meningioma10.2
9lung cancer10.2TP53, KRAS
10malignant mixed mullerian tumor10.1KRAS, TP53
11barrett's esophagus10.0APC, TP53
12cardiofaciocutaneous syndrome10.0BRAF, KRAS
13costello syndrome10.0BRAF, KRAS
14esophageal cancer10.0APC, TP53
15cystadenoma10.0KRAS, BRAF
16noonan syndrome10.0BRAF, KRAS
17gastric cancer, somatic10.0KRAS, APC, MUTYH
18thyroid cancer, anaplastic10.0BRAF, TP53
19rectal neoplasm10.0APC, MUTYH, KRAS
20thyroid adenoma9.9BRAF, APC
21seminoma9.9KRAS, BRAF
22gallbladder cancer9.9TP53, KRAS, APC
23lung benign neoplasm9.9KRAS, TP53, APC
24papillary thyroid carcinoma9.9APC, BRAF
25retinoblastoma9.8APC, KRAS, TP53
26gastric adenocarcinoma9.8APC, KRAS
27cholangiocarcinoma9.8TP53, KRAS, BRAF
28non-small cell lung carcinoma9.8BRAF, TP53, KRAS
29lung adenocarcinoma9.8BRAF, TP53, KRAS
30endometrial carcinoma9.8TP53, BRAF, KRAS
31cervical cancer9.8BRAF, TP53, KRAS
32thyroid hurthle cell carcinoma9.8BRAF, APC
33sarcoma9.8KRAS, TP53, BRAF
34tongue squamous cell carcinoma9.7KRAS, TP53, APC
35prostate cancer9.7KRAS, TP53, APC, MBD4
36ovarian cancer9.7BRAF, KRAS, TP53
37pancreatic cancer9.6MBD4, KRAS, TP53, BRAF
38liver cancer9.5APC, MUTYH, KRAS, MBD4, TP53
39adenocarcinoma9.5BRAF, KRAS, TP53, APC
40lynch syndrome9.4APC, TP53, KRAS, MUTYH, BRAF
41familial adenomatous polyposis9.4APC, MUTYH, KRAS, TP53, BRAF
42adenoma9.4KRAS, MUTYH, BRAF, TP53, APC
43colonic benign neoplasm9.4TP53, APC, BRAF, MBD4, KRAS
44breast cancer9.4MBD4, 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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Symptoms by clinical synopsis from OMIM:

175020

Clinical features from OMIM:

175020

HPO human phenotypes related to Hyperplastic Polyposis Syndrome:

id Description Frequency HPO Source Accession
1 multiple gastric polyps HP:0004394

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:

32
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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Expression patterns in normal tissues for genes affiliated with Hyperplastic Polyposis Syndrome

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Pathways for genes affiliated with Hyperplastic Polyposis Syndrome

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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 pathway37
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 Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
8.6TP53, BRAF, KRAS
26
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
8.6TP53, BRAF, KRAS
27
Show member pathways
8.6TP53, BRAF, KRAS
288.6KRAS, BRAF, TP53
29
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.6TP53, BRAF, KRAS
30
Show member pathways
MAPK signaling pathway37
8.6TP53, BRAF, KRAS
318.6KRAS, BRAF, TP53
32
Show member pathways
Signaling Pathways in Glioblastoma37
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 pathway60
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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Compounds related to Hyperplastic Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
18-oxo-dg449.9TP53, MUTYH
2af/ap449.9MUTYH, APC
38-oxoguanine449.8APC, MUTYH
4pyrimidine44 2410.8MBD4, MUTYH
5mononucleotide449.8MBD4, APC
6oxaliplatin44 50 1111.7TP53, KRAS
7sulindac44 1110.6TP53, APC
8methylmethanesulfonate449.6APC, TP53
9panitumumab44 50 1111.5KRAS, BRAF
10regorafenib50 1110.5KRAS, BRAF
11cetuximab44 50 1111.5KRAS, BRAF
12cytosine44 2410.4MBD4, APC
13nocodazole44 1110.4TP53, APC
14depsipeptide449.4TP53, BRAF
155fluorouracil449.4TP53, KRAS, MBD4
165-methylcytosine44 2410.3MBD4, TP53, APC
175-aza-2deoxycytidine449.3MBD4, TP53, APC
18geldanamycin44 50 61 1112.2BRAF, TP53
19h2o2449.2TP53, MUTYH, KRAS
20p002449.1KRAS, BRAF
21irinotecan44 50 1111.0KRAS, BRAF, TP53
22thymine44 2410.0APC, BRAF, MBD4
23paclitaxel44 50 1111.0KRAS, BRAF, TP53
24ly294002448.9KRAS, BRAF, TP53
25guanine44 24 1110.9MBD4, MUTYH, TP53, APC
26rapamycin448.9APC, BRAF, KRAS
27wortmannin448.8APC, BRAF, KRAS
28phosphoinositide448.8KRAS, BRAF, APC
29gtp44 289.8APC, BRAF, KRAS
30fatty acid448.8KRAS, BRAF, APC
31progesterone44 28 61 24 1112.7BRAF, TP53, APC
32cisplatin44 50 61 1111.6TP53, BRAF, MUTYH, KRAS
33adenine44 24 1110.6APC, BRAF, MUTYH, MBD4
34vegf448.5TP53, BRAF, KRAS
35o6-methylguanine448.4KRAS, BRAF, TP53, APC
36crcs448.4APC, TP53, BRAF, KRAS
37paraffin448.4APC, TP53, BRAF, KRAS
38estrogen448.4APC, TP53, BRAF, KRAS
39retinoic acid44 249.4KRAS, BRAF, TP53, APC
40serine448.2KRAS, BRAF, TP53, APC
41phosphatidylinositol448.2KRAS, BRAF, APC
42oligonucleotide448.0APC, 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/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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Sources for Hyperplastic Polyposis Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet