MCID: HYP466
MIFTS: 29

Hyperplastic Polyposis Syndrome malady

Gastrointestinal diseases, Cancer diseases, Rare diseases categories

Aliases & Classifications for Hyperplastic Polyposis Syndrome

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Hyperplastic Polyposis Syndrome:

Name: Hyperplastic Polyposis Syndrome 51
 
Serrated Polyposis 51


Classifications:



External Ids:

Orphanet51 157798
ICD10 via Orphanet28 D12.6

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 colonic disease. An important gene associated with Hyperplastic Polyposis Syndrome is MUTYH (MutY DNA Glycosylase), and among its related pathways are Long-term depression and Vemurafenib Pathway, Pharmacodynamics. Affiliated tissues include colon, and related mouse phenotypes are pigmentation and liver/biliary system.

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 top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer30.1APC, BRAF, KRAS, MUTYH, TP53
2colonic disease30.1APC, BRAF, MUTYH
3colorectal cancer 510.2
4colorectal adenoma10.2
5colon adenoma10.2
6adenoma10.2
7colonic benign neoplasm10.2
8large intestine cancer10.2
9withdrawal disorder10.2
10cap polyposis10.2
11cerebellar disease10.1BRAF, TP53
12splenogonadal fusion limb defects micrognatia10.1BRAF, TP53
13thyroid cancer, childhood10.1BRAF, TP53
14progesterone-receptor positive breast cancer10.1BRAF, TP53
15arteritic anterior ischemic optic neuropathy10.1BRAF, KRAS
16punctate acrokeratoderma freckle like pigmentation10.1BRAF, KRAS
17kidney hemangiopericytoma10.1KRAS, TP53
18pancreatic islet cell tumors10.1KRAS, TP53
19infiltrating bladder urothelial carcinoma sarcomatoid variant10.1KRAS, TP53
20toxic encephalopathy10.1KRAS, TP53
21pulmonary embolism10.1KRAS, TP53
22ovary epithelial cancer10.1KRAS, TP53
23mixed epithelial tumor of ovary10.1KRAS, TP53
24mixed epithelial stromal tumour10.1BRAF, TP53
25fallopian tube squamous cell carcinoma10.1KRAS, TP53
26plantar fascial fibromatosis10.1KRAS, TP53
27biliary tract disease10.1KRAS, TP53
28bile duct adenoma10.1KRAS, TP53
29lung combined type small cell carcinoma10.1KRAS, TP53
30adult liposarcoma10.1KRAS, TP53
31mixed oligodendroglioma-astrocytoma10.1KRAS, TP53
32pilodental dysplasia with refractive errors10.1BRAF, KRAS
33ampullary signet ring cell adenocarcinoma10.1KRAS, TP53
34chief cell adenoma10.1KRAS, TP53
35malignant peripheral nerve sheath tumor10.1KRAS, TP53
36ovary sarcoma10.0KRAS, TP53
37skin papilloma10.0BRAF, TP53
38pancreatic ductal adenocarcinoma10.0KRAS, TP53
39atypical mole syndrome10.0APC, MUTYH
40endometrial stromal tumor10.0KRAS, TP53
41cardiofaciocutaneous syndrome10.0BRAF, KRAS
42rectum adenocarcinoma10.0KRAS, TP53
43hyperinsulinism-hyperammonemia syndrome10.0APC, MUTYH
44cerebellopontine angle tumor10.0APC, TP53
45angioedema10.0APC, TP53
46small intestine carcinoid neuroendocrine tumor10.0APC, KRAS
47mature teratoma of the ovary9.9BRAF, KRAS, TP53
48pancreatic somatostatinoma9.9KRAS, TP53
49female reproductive system disease9.9KRAS, TP53
50amyotrophic lateral sclerosis type 149.9BRAF, KRAS, TP53

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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Drugs for Hyperplastic Polyposis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ursodeoxycholic acidapproved, investigationalPhase 2, Phase 374128-13-231401
Synonyms:
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oic acid
(3a,5b,7b)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta,8xi)-3,7-dihydroxycholan-24-oic acid
(3α,5β,7β)-3,7-dihydroxycholan-24-oic acid
(4R)-4-[(3R,5S,7S,8R,9S,10S,13R,14S,17R)-3,7-dihydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]pentanoic acid
128-13-2
17-beta-(1-Methyl-3-carboxypropyl)etiocholane-3-alpha,7-beta-diol
3 alpha,7 beta-Dihydroxy-5 beta-cholan-24-oic Acid
3,7-Dihydroxycholan-24-oic acid
3-alpha,7-beta-Dihydroxy-5-beta-cholanoic acid
3-alpha,7-beta-Dihydroxycholanic acid
3-alpha,7-beta-Dioxycholanic acid
3a,7b-Dihydroxy-5b-cholan-24-oate
3a,7b-Dihydroxy-5b-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholanic acid
4-10-00-01604 (Beilstein Handbook Reference)
50809-41-1
5beta-Cholan-24-oic acid-3alpha,7beta-diol
5beta-Cholanic Acid-3alpha,7beta-diol
7-beta-Hydroxylithocholic acid
7beta-Hydroxylithocholic acid
80225-86-1
AB00513977
AC-18919
AC-2081
AC1L1LJH
Acide ursodesoxycholique
Acide ursodesoxycholique [INN-French]
Acido ursodeossicolico
Acido ursodeossicolico [Italian]
Acido ursodeoxicolico
Acido ursodeoxicolico [INN-Spanish]
Acidum ursodeoxycholicum
Acidum ursodeoxycholicum [INN-Latin]
Actigall
Actigall (TN)
Antigall
Arsacol
BB_NC-2372
BPBio1_001052
BRN 3219888
BSPBio_000956
C07880
C24H40O4
CCRIS 5502
CHEBI:9907
CHEMBL1551
CHEMBL73390
CID11516715
CID31401
CPD-10534
CPD000058403
Cholan-24-oic acid, 3,7-dihydroxy-, (3-alpha,5-beta,7-beta)- (9CI)
Cholit-ursan
D00734
DB01586
Delursan
Deoxyursocholic Acid
Destolit
Deursil
Dom-ursodiol c
EINECS 204-879-3
HMS1570P18
ISO-URSODEOXYCHOLIC ACID
 
IU5
LMST04010033
LS-53033
Litursol
Lyeton
MLS000028461
MLS001066373
MolPort-001-794-630
MolPort-005-932-884
NCGC00179363-01
NCI60_028904
NSC 657950
NSC 683769
PHL-ursodiol c
PMS-ursodiol c
Peptarom
Prestwick0_000958
Prestwick1_000958
Prestwick2_000958
Prestwick3_000958
S1643_Selleck
SAM002264653
SMP2_000012
SMR000058403
SPBio_003105
Sodium Ursodeoxycholate
Solutrat
U-9000
U0030
U5127_SIGMA
UDCA
UDCS
UNII-724L30Y2QR
URSODEOXYCHOLIC ACID
UrSO
Urosdesoxycholate
Urosdesoxycholic acid
Urosiol
Ursacholic Acid
Ursacol
Urso
Urso (TN)
Urso 250
Urso DS
Urso Forte
Ursobilin
Ursochol
Ursodamor
Ursodeoxy cholic acid
Ursodeoxycholate
Ursodeoxycholic acid
Ursodeoxycholic acid (JP15/INN)
Ursodeoxycholic acid, UDCA, Ursosan, Ursofalk, Urso Forte, Udiliv, Ursodiol
Ursodeoxycholicacid
Ursodesoxycholic acid
Ursodexycholate
Ursodexycholic Acid
Ursodexycholic acid
Ursodiol
Ursodiol (USP)
Ursodiol Tablets, 250 mg
Ursodiol Tablets, 500 mg
Ursodiol [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) PatientsActive, not recruitingNCT00134758Phase 2, Phase 3
2Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime TimeCompletedNCT02196402

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:

33
Colon

Animal Models for Hyperplastic Polyposis Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hyperplastic Polyposis Syndrome:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7APC, BRAF, KRAS, TP53
2MP:00053708.5APC, BRAF, KRAS, TP53
3MP:00053828.5APC, BRAF, MBD4, TP53
4MP:00053698.4APC, BRAF, KRAS, TP53
5MP:00053678.4APC, BRAF, KRAS, TP53
6MP:00053718.4APC, KRAS, MBD4, TP53
7MP:00053817.9APC, BRAF, KRAS, MBD4, TP53
8MP:00053807.8APC, BRAF, KRAS, MBD4, TP53
9MP:00053857.8APC, BRAF, KRAS, MBD4, TP53
10MP:00053917.7APC, BRAF, KRAS, MBD4, TP53
11MP:00053847.4APC, BRAF, KRAS, MBD4, MUTYH, TP53
12MP:00107687.3APC, BRAF, KRAS, MBD4, MUTYH, TP53
13MP:00020067.1APC, BRAF, KRAS, MBD4, MUTYH, TP53
14MP:00036317.0APC, BRAF, KRAS, MBD4, MUTYH, TP53
15MP:00053766.8APC, BRAF, KRAS, MBD4, MUTYH, TP53

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 30)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5BRAF, KRAS
29.5BRAF, KRAS
39.5BRAF, KRAS
4
Show member pathways
9.5BRAF, KRAS
59.5BRAF, KRAS
69.4KRAS, TP53
7
Show member pathways
9.0BRAF, KRAS, TP53
89.0BRAF, KRAS, TP53
99.0BRAF, KRAS, TP53
10
Show member pathways
9.0BRAF, KRAS, TP53
11
Show member pathways
9.0BRAF, KRAS, TP53
12
Show member pathways
9.0BRAF, KRAS, TP53
139.0BRAF, KRAS, TP53
149.0BRAF, KRAS, TP53
15
Show member pathways
9.0BRAF, KRAS, TP53
169.0BRAF, KRAS, TP53
17
Show member pathways
9.0BRAF, KRAS, TP53
189.0BRAF, KRAS, TP53
19
Show member pathways
9.0BRAF, KRAS, TP53
208.8KRAS, MBD4, TP53
21
Show member pathways
8.7APC, BRAF, KRAS
22
Show member pathways
8.6APC, KRAS, TP53
238.6APC, KRAS, TP53
248.6APC, KRAS, TP53
258.6APC, KRAS, TP53
268.2APC, BRAF, KRAS, TP53
27
Show member pathways
8.2APC, BRAF, KRAS, TP53
288.2APC, BRAF, KRAS, TP53
29
Show member pathways
8.2APC, BRAF, KRAS, TP53
308.2APC, BRAF, KRAS, TP53

GO Terms for genes affiliated with Hyperplastic Polyposis Syndrome

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1base-excision repair, AP site formationGO:000628510.0MBD4, MUTYH
2cellular response to drugGO:00356909.6BRAF, TP53
3chromosome organizationGO:00512769.5APC, TP53
4T cell differentiation in thymusGO:00330779.5APC, TP53
5somatic stem cell population maintenanceGO:00350199.5APC, BRAF
6base-excision repairGO:00062849.1MBD4, MUTYH, TP53
7positive regulation of gene expressionGO:00106289.0BRAF, KRAS, TP53
8DNA repairGO:00062818.8MBD4, MUTYH, TP53
9Ras protein signal transductionGO:00072658.7BRAF, KRAS, TP53

Sources for Hyperplastic Polyposis Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet