MCID: HYP466
MIFTS: 33

Hyperplastic Polyposis Syndrome malady

Gastrointestinal, Cancer categories

Summaries for Hyperplastic Polyposis Syndrome

Sources:
47OMIM, 33MalaCards
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MalaCards: Hyperplastic Polyposis Syndrome is related to colorectal cancer and n syndrome. An important gene associated with Hyperplastic Polyposis Syndrome is MBD4 (methyl-CpG binding domain protein 4), and among its related pathways are Base-Excision Repair, AP Site Formation and Resolution of Abasic Sites (AP sites). The compounds depsipeptide and guanine have been mentioned in the context of this disorder. Affiliated tissues include colon, and related mouse phenotypes are limbs/digits/tail and homeostasis/metabolism.

Description from OMIM:47 175020

Aliases & Classifications for Hyperplastic Polyposis Syndrome

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hyperplastic polyposis syndrome:
Prevalence: 1-5/10000


Aliases & Descriptions:

hyperplastic polyposis syndrome 49 47


External Ids:

OMIM47 175020
ICD10 via Orphanet26 D12.6

Related Diseases for Hyperplastic Polyposis Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hyperplastic Polyposis Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer30.8BRAF, MBD4, APC, MUTYH, KRAS, TP53
2n syndrome10.4
3micro syndrome10.2
4char syndrome10.2
5juvenile myelomonocytic leukemia10.0KRAS
6pancreatitis10.0KRAS
7adrenocortical carcinoma10.0TP53
8ulcerative colitis10.0TP53
9spitz nevus10.0BRAF
10bladder carcinoma10.0TP53
11kidney cancer10.0TP53
12glioblastoma multiforme10.0TP53
13intestinal neoplasm10.0APC
14colon adenocarcinoma10.0KRAS
15peutz-jeghers syndrome10.0APC
16turcot syndrome10.0APC
17fibrous dysplasia10.0APC
18mental retardation10.0BRAF, MBD4
19pituitary adenoma10.0APC
20lung cancer10.0KRAS, TP53
21leukemia10.0TP53, KRAS
22seminoma10.0BRAF, KRAS
23malignant mixed mullerian tumor10.0TP53, KRAS
24cystadenoma10.0BRAF, KRAS
25cardiofaciocutaneous syndrome10.0BRAF, KRAS
26costello syndrome10.0KRAS, BRAF
27thyroid cancer, anaplastic10.0BRAF, TP53
28gastric cancer, somatic10.0APC, MUTYH
29noonan syndrome10.0KRAS, BRAF
30barrett's esophagus10.0APC, TP53
31thyroid cancer10.0APC, BRAF
32cholangiocarcinoma10.0BRAF, KRAS, TP53
33non-small cell lung carcinoma10.0TP53, KRAS, BRAF
34lung adenocarcinoma10.0TP53, KRAS, BRAF
35rectum cancer10.0KRAS, MUTYH, APC
36cervical cancer10.0BRAF, KRAS, TP53
37melanoma10.0TP53, KRAS, BRAF
38thyroid adenoma10.0BRAF, APC
39papillary thyroid carcinoma10.0APC, BRAF
40gallbladder cancer10.0APC, KRAS, TP53
41lung benign neoplasm10.0APC, KRAS, TP53
42ovarian cancer10.0BRAF, KRAS, TP53
43sarcoma10.0TP53, KRAS, BRAF
44pancreatic cancer10.0TP53, KRAS, MBD4, BRAF
45esophageal cancer10.0APC, TP53
46endometrial carcinoma10.0TP53, KRAS, BRAF
47prostate cancer10.0MBD4, APC, KRAS, TP53
48adenocarcinoma10.0TP53, KRAS, APC, BRAF
49hepatocellular carcinoma10.0MBD4, APC, MUTYH, KRAS, TP53
50lynch syndrome10.0BRAF, APC, MUTYH, KRAS, TP53

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



Diseases related to hyperplastic polyposis syndrome

Clinical Features for Hyperplastic Polyposis Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

175020

Clinical synopsis from OMIM:

175020

Drugs & Therapeutics for Hyperplastic Polyposis Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Hyperplastic Polyposis Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Hyperplastic Polyposis Syndrome:

33
Colon

Animal Models for Hyperplastic Polyposis Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Hyperplastic Polyposis Syndrome

Sources:
51PubMed
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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
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
Association of hyperplastic polyposis syndrome, colorectal cancer and meningioma. (21982888)
2011
7
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. (21228663)
2011
8
Increased polyp detection using narrow band imaging compared with high resolution endoscopy in patients with hyperplastic polyposis syndrome. (21811939)
2011
9
Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome. (21347319)
2011
10
A serrated colorectal cancer pathway predominates over the classic WNT pathway in patients with hyperplastic polyposis syndrome. (21641392)
2011
11
Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome. (20584785)
2010
12
Hyperplastic polyposis syndrome is associated with cigarette smoking, which may be a modifiable risk factor. (20125129)
2010
13
Risk factors: Hyperplastic polyposis syndrome and risk of colorectal cancer. (21042338)
2010
14
Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study. (19710031)
2010
15
Hyperplastic polyposis syndrome: a pilot study for the differentiation of polyps by using high-resolution endoscopy, autofluorescence imaging, and narrow-band imaging. (19595313)
2009
16
Is the phenotype mixed or mistaken? Hereditary nonpolyposis colorectal cancer and hyperplastic polyposis syndrome. (19934914)
2009
17
A perspective on bi-allelic MUTYH mutations in patients with hyperplastic polyposis syndrome. (19406141)
2009
18
Molecular classification and genetic pathways in hyperplastic polyposis syndrome. (17503413)
2007
19
Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. (16831587)
2006
20
Distinct secreted Frizzled receptor protein 1 staining pattern in patients with hyperplastic polyposis coli syndrome. (15335268)
2004
21
Colorectal carcinomas arising in the hyperplastic polyposis syndrome progress through the chromosomal instability pathway. (10934143)
2000

Genetic Variations for Hyperplastic Polyposis Syndrome

Expression for genes affiliated with Hyperplastic Polyposis Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 53R&D Systems, 12EMD Millipore, 52QIAGEN, 38NCBI BioSystems Database, 50PharmGKB
See all sources

Pathways related to Hyperplastic Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6MBD4, MUTYH
2
Hide members
9.6MUTYH, MBD4
39.4TP53, KRAS
49.3BRAF, KRAS
5
Hide members
9.3KRAS, BRAF
6
Hide members
9.3BRAF, KRAS
79.3KRAS, BRAF
8
Hide members
9.3TP53, BRAF
99.1TP53, APC
10
Hide members
8.8TP53, KRAS, BRAF
118.8BRAF, KRAS, TP53
128.8BRAF, KRAS, TP53
13
Hide members
8.8TP53, KRAS, BRAF
14
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
8.8TP53, KRAS, BRAF
15
Hide members
8.8BRAF, KRAS, TP53
168.8TP53, KRAS, BRAF
178.8BRAF, KRAS, TP53
18
Hide members
8.8TP53, KRAS, BRAF
198.6TP53, KRAS, APC
208.6APC, KRAS, TP53
218.6APC, KRAS, TP53
22
Hide members
8.6TP53, KRAS, APC
23
Hide members
8.5KRAS, APC, BRAF
248.5TP53, APC, BRAF
258.5TP53, APC, BRAF
26
Hide members
8.0BRAF, APC, KRAS, TP53
278.0BRAF, APC, KRAS, TP53
28
Hide members
8.0TP53, KRAS, APC, BRAF

Compounds for genes affiliated with Hyperplastic Polyposis Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Hyperplastic Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1depsipeptide4510.1TP53
2guanine45 11 2412.0MUTYH, MBD4
38-oxo-dg459.8TP53, MUTYH
4panitumumab45 50 1111.7KRAS, BRAF
5pyrimidine45 2410.6MUTYH, MBD4
6cetuximab45 50 1111.6KRAS, BRAF
7mononucleotide459.6APC, MBD4
8af/ap459.6APC, MUTYH
98-oxoguanine459.5MUTYH, APC
105fluorouracil459.3MBD4, KRAS, TP53
11sulindac45 1110.3TP53, APC
12oxaliplatin45 50 1111.3KRAS, TP53
13methylmethanesulfonate459.2TP53, APC
14irinotecan45 50 1111.2BRAF, KRAS, TP53
155-methylcytosine45 2410.1TP53, APC, MBD4
16paclitaxel45 50 1111.1BRAF, KRAS, TP53
175-aza-2deoxycytidine459.1TP53, APC, MBD4
18ly294002459.0TP53, KRAS, BRAF
19thymine45 2410.0APC, MBD4, BRAF
20rapamycin458.8BRAF, APC, KRAS
21wortmannin458.7BRAF, APC, KRAS
22phosphoinositide458.7BRAF, APC, KRAS
23gtp45 299.6BRAF, APC, KRAS
24adenine45 11 2410.6BRAF, MBD4, APC, MUTYH
25fatty acid458.5KRAS, APC, BRAF
26cisplatin45 50 60 1111.5TP53, KRAS, BRAF
27o6-methylguanine458.4TP53, KRAS, APC, BRAF
28crcs458.4BRAF, APC, KRAS, TP53
29paraffin458.3TP53, KRAS, APC, BRAF
30retinoic acid45 249.3BRAF, APC, KRAS, TP53
31oligonucleotide458.0BRAF, MBD4, APC, KRAS, TP53

GO Terms for genes affiliated with Hyperplastic Polyposis Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1chromatinGO:0007859.5TP53, MBD4

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

idNameGO IDScoreTop Affiliating Genes
1base-excision repair, AP site formationGO:0062859.7MUTYH, MBD4
2Ras protein signal transductionGO:0072659.4TP53, KRAS
3activation of MAPKK activityGO:0001869.2BRAF, KRAS
4base-excision repairGO:0062849.2TP53, MUTYH, MBD4
5T cell differentiation in thymusGO:0330779.1TP53, APC
6negative regulation of apoptotic processGO:0430668.2TP53, APC, BRAF

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

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

Products for genes affiliated with Hyperplastic Polyposis Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperplastic Polyposis Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet