MCID: HYP466
MIFTS: 34

Hyperplastic Polyposis Syndrome malady

Gastrointestinal diseases, Cancer diseases, Rare diseases categories

Aliases & Classifications for Hyperplastic Polyposis Syndrome

About this section
Sources:
48Orphanet, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Hyperplastic Polyposis Syndrome:

Name: Hyperplastic Polyposis Syndrome 48
 
Serrated Polyposis 48


Classifications:



External Ids:

Orphanet48 157798
ICD10 via Orphanet26 D12.6

Summaries for Hyperplastic Polyposis Syndrome

About this section
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.

Related Diseases for Hyperplastic Polyposis Syndrome

About this section

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

About this section

Drugs & Therapeutics for Hyperplastic Polyposis Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Hyperplastic Polyposis Syndrome

Search NIH Clinical Center for Hyperplastic Polyposis Syndrome

Genetic Tests for Hyperplastic Polyposis Syndrome

About this section

Anatomical Context for Hyperplastic Polyposis Syndrome

About this section

MalaCards organs/tissues related to Hyperplastic Polyposis Syndrome:

31
Colon

Animal Models for Hyperplastic Polyposis Syndrome or affiliated genes

About this section

Publications for Hyperplastic Polyposis Syndrome

About this section

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

About this section

Expression for genes affiliated with Hyperplastic Polyposis Syndrome

About this section
Search GEO for disease gene expression data for Hyperplastic Polyposis Syndrome.

Pathways for genes affiliated with Hyperplastic Polyposis Syndrome

About this section

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
9.6MBD4, MUTYH
2
Show member pathways
9.6MUTYH, MBD4
39.4KRAS, TP53
49.4KRAS, TP53
59.1KRAS, BRAF
6
Show member pathways
9.1KRAS, BRAF
79.1KRAS, BRAF
8
Show member pathways
9.1BRAF, KRAS
99.1BRAF, KRAS
10
Show member pathways
9.1KRAS, BRAF
11
Show member pathways
9.1KRAS, BRAF
12
Show member pathways
9.1BRAF, KRAS
139.1BRAF, KRAS
14
Show member pathways
9.1BRAF, TP53
15
Show member pathways
9.1BRAF, TP53
169.1TP53, BRAF
17
Show member pathways
RAC1 signaling pathway36
9.0APC, BRAF
188.8APC, KRAS, TP53
19
Show member pathways
8.8APC, TP53, KRAS
208.8APC, TP53, KRAS
218.8APC, TP53, KRAS
22
Show member pathways
8.6TP53, BRAF, KRAS
238.6KRAS, BRAF, TP53
24
Show member pathways
8.6KRAS, BRAF, TP53
25
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.6TP53, BRAF, KRAS
26
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells59
Oncostatin M Signaling Pathway36
8.6TP53, KRAS, BRAF
278.6KRAS, BRAF, TP53
28
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
8.6KRAS, TP53, BRAF
29
Show member pathways
MAPK signaling pathway36
8.6TP53, KRAS, BRAF
308.6KRAS, BRAF, TP53
31
Show member pathways
Signaling Pathways in Glioblastoma36
8.6BRAF, KRAS, TP53
328.6KRAS, BRAF, TP53
33
Show member pathways
8.5APC, BRAF, KRAS
348.5BRAF, TP53, APC
358.5TP53, BRAF, APC
36
Show member pathways
8.0BRAF, APC, TP53, KRAS
37
Show member pathways
Signal transduction PTEN pathway59
8.0APC, TP53, BRAF, KRAS
388.0APC, TP53, BRAF, KRAS

Compounds for genes affiliated with Hyperplastic Polyposis Syndrome

About this section

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

(show all 42)
idCompoundScoreTop Affiliating Genes
18-oxo-dg449.9TP53, MUTYH
2af/ap449.9APC, MUTYH
3pyrimidine44 2410.8MUTYH, MBD4
48-oxoguanine449.8APC, MUTYH
5mononucleotide449.8MBD4, APC
6oxaliplatin44 50 1111.7KRAS, TP53
7sulindac44 1110.6APC, TP53
8methylmethanesulfonate449.6APC, TP53
9panitumumab44 50 1111.5BRAF, KRAS
10regorafenib50 1110.5KRAS, BRAF
11cetuximab44 50 1111.5KRAS, BRAF
12cytosine44 2410.4MBD4, APC
13nocodazole44 1110.4TP53, APC
14depsipeptide449.4BRAF, TP53
155fluorouracil449.4TP53, KRAS, MBD4
165-methylcytosine44 2410.3APC, TP53, MBD4
175-aza-2deoxycytidine449.3TP53, APC, MBD4
18geldanamycin44 50 60 1112.2TP53, BRAF
19h2o2449.2MUTYH, TP53, KRAS
20p002449.1KRAS, BRAF
21irinotecan44 50 1111.0BRAF, KRAS, TP53
22thymine44 2410.0BRAF, MBD4, APC
23paclitaxel44 50 1111.0KRAS, BRAF, TP53
24ly294002448.9KRAS, BRAF, TP53
25guanine44 24 1110.9MBD4, TP53, APC, MUTYH
26rapamycin448.9KRAS, BRAF, APC
27wortmannin448.8BRAF, APC, KRAS
28phosphoinositide448.8BRAF, KRAS, APC
29gtp44 289.8APC, BRAF, KRAS
30fatty acid448.8BRAF, APC, KRAS
31progesterone44 28 60 24 1112.7APC, BRAF, TP53
32cisplatin44 50 60 1111.6BRAF, KRAS, TP53, MUTYH
33adenine44 24 1110.6APC, BRAF, MUTYH, MBD4
34vegf448.5KRAS, TP53, BRAF
35o6-methylguanine448.4APC, KRAS, BRAF, TP53
36crcs448.4BRAF, TP53, APC, KRAS
37paraffin448.4TP53, BRAF, KRAS, APC
38estrogen448.4APC, TP53, BRAF, KRAS
39retinoic acid44 249.4BRAF, APC, TP53, KRAS
40serine448.2KRAS, BRAF, APC, TP53
41phosphatidylinositol448.2KRAS, BRAF, APC
42oligonucleotide448.0MBD4, APC, TP53, BRAF, KRAS

GO Terms for genes affiliated with Hyperplastic Polyposis Syndrome

About this section

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

Sources for Hyperplastic Polyposis Syndrome

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet