MCID: HYP466
MIFTS: 36

Hyperplastic Polyposis Syndrome malady

Gastrointestinal diseases, Cancer diseases categories

Summaries for Hyperplastic Polyposis Syndrome

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46OMIM, 32MalaCards
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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 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:46 175020

Aliases & Classifications for Hyperplastic Polyposis Syndrome

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48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

hyperplastic polyposis syndrome 48 46
serrated polyposis 48


External Ids:

OMIM46 175020
ICD10 via Orphanet26 D12.6

Related Diseases for Hyperplastic Polyposis Syndrome

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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
2colon cancer30.1BRAF, MBD4, APC, MUTYH, KRAS, TP53
3image syndrome10.3
4inflammatory bowel disease10.2
5meningioma10.2
6juvenile myelomonocytic leukemia10.0KRAS
7pancreatitis10.0KRAS
8adrenocortical carcinoma10.0TP53
9ulcerative colitis10.0TP53
10spitz nevus10.0BRAF
11bladder carcinoma10.0TP53
12kidney cancer10.0TP53
13glioblastoma multiforme10.0TP53
14intestinal neoplasm10.0APC
15colon adenocarcinoma10.0KRAS
16peutz-jeghers syndrome10.0APC
17turcot syndrome10.0APC
18fibrous dysplasia10.0APC
19mental retardation10.0BRAF, MBD4
20pituitary adenoma10.0APC
21lung cancer10.0KRAS, TP53
22seminoma10.0BRAF, KRAS
23leukemia10.0TP53, KRAS
24malignant mixed mullerian tumor10.0TP53, KRAS
25cystadenoma10.0BRAF, KRAS
26cardiofaciocutaneous syndrome10.0BRAF, KRAS
27costello syndrome10.0KRAS, BRAF
28thyroid cancer, anaplastic10.0BRAF, TP53
29gastric cancer, somatic10.0APC, MUTYH
30noonan syndrome10.0KRAS, BRAF
31barrett's esophagus10.0APC, TP53
32cholangiocarcinoma10.0BRAF, KRAS, TP53
33non-small cell lung carcinoma10.0TP53, KRAS, BRAF
34lung adenocarcinoma10.0TP53, KRAS, BRAF
35rectal neoplasm10.0KRAS, 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
41ovarian cancer10.0BRAF, KRAS, TP53
42lung benign neoplasm10.0APC, KRAS, TP53
43thyroid cancer10.0TP53, APC, BRAF
44sarcoma10.0TP53, KRAS, BRAF
45pancreatic cancer10.0TP53, KRAS, MBD4, BRAF
46esophageal cancer10.0APC, TP53
47endometrial carcinoma10.0TP53, KRAS, BRAF
48prostate cancer10.0MBD4, APC, KRAS, TP53
49adenocarcinoma10.0TP53, KRAS, APC, BRAF
50hepatocellular carcinoma10.0MBD4, 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

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46OMIM
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Clinical features from OMIM:

175020

Clinical synopsis from OMIM:

175020

Drugs & Therapeutics for Hyperplastic Polyposis Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Hyperplastic Polyposis Syndrome:

36 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.3MBD4
2MP:00053769.9MUTYH, MBD4
3MP:00020069.6KRAS, BRAF
4MP:00053799.1TP53, KRAS
5MP:00107718.6TP53, KRAS, APC
6MP:00053828.2BRAF, MBD4, APC, TP53
7MP:00053708.1TP53, KRAS, APC, BRAF
8MP:00053678.1BRAF, APC, KRAS, TP53
9MP:00053698.0TP53, KRAS, APC, BRAF
10MP:00053817.9TP53, KRAS, APC, MBD4, BRAF
11MP:00053917.9BRAF, MBD4, APC, KRAS, TP53
12MP:00053807.8BRAF, MBD4, APC, KRAS, TP53
13MP:00053857.8BRAF, MBD4, APC, KRAS, TP53
14MP:00053787.5BRAF, MBD4, APC, KRAS, TP53
15MP:00036317.4BRAF, MBD4, APC, MUTYH, KRAS, TP53
16MP:00053847.4BRAF, MBD4, APC, MUTYH, KRAS, TP53
17MP:00107687.3BRAF, MBD4, APC, MUTYH, KRAS, TP53

Publications for Hyperplastic Polyposis Syndrome

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Genetic Variations for Hyperplastic Polyposis Syndrome

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Expression for genes affiliated with Hyperplastic Polyposis Syndrome

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Sources:
1BioGPS, 15Gene 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:
53Reactome, 29KEGG, 52R&D Systems, 12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 49PharmGKB
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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
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9.3KRAS, BRAF
6
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9.3BRAF, KRAS
79.3KRAS, BRAF
8
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9.3TP53, BRAF
99.1TP53, APC
10
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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

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Hyperplastic Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1depsipeptide4410.1TP53
2guanine44 11 2412.0MUTYH, MBD4
38-oxo-dg449.8TP53, MUTYH
4panitumumab44 49 1111.7KRAS, BRAF
5pyrimidine44 2410.6MUTYH, MBD4
6cetuximab44 49 1111.6KRAS, BRAF
7mononucleotide449.6APC, MBD4
8af/ap449.6APC, MUTYH
98-oxoguanine449.5MUTYH, APC
105fluorouracil449.3MBD4, KRAS, TP53
11sulindac44 1110.3TP53, APC
12oxaliplatin44 49 1111.3KRAS, TP53
13methylmethanesulfonate449.2TP53, APC
14irinotecan44 49 1111.2BRAF, KRAS, TP53
155-methylcytosine44 2410.1TP53, APC, MBD4
16paclitaxel44 49 1111.1BRAF, KRAS, TP53
175-aza-2deoxycytidine449.1TP53, APC, MBD4
18ly294002449.0TP53, KRAS, BRAF
19thymine44 2410.0APC, MBD4, BRAF
20rapamycin448.8BRAF, APC, KRAS
21wortmannin448.7BRAF, APC, KRAS
22phosphoinositide448.7BRAF, APC, KRAS
23gtp44 289.6BRAF, APC, KRAS
24adenine44 11 2410.6BRAF, MBD4, APC, MUTYH
25fatty acid448.5KRAS, APC, BRAF
26cisplatin44 49 59 1111.5TP53, KRAS, BRAF
27o6-methylguanine448.4TP53, KRAS, APC, BRAF
28crcs448.4BRAF, APC, KRAS, TP53
29paraffin448.3TP53, KRAS, APC, BRAF
30retinoic acid44 249.3BRAF, APC, KRAS, TP53
31oligonucleotide448.0BRAF, MBD4, APC, KRAS, TP53

GO Terms for genes affiliated with Hyperplastic Polyposis Syndrome

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet