MCID: HYP466
MIFTS: 31

Hyperplastic Polyposis Syndrome malady

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Hyperplastic Polyposis Syndrome

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Sources:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Hyperplastic Polyposis Syndrome:

Name: Hyperplastic Polyposis Syndrome 53
 
Serrated Polyposis 53

Characteristics:

Orphanet epidemiological data:

53
hyperplastic polyposis syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial

Classifications:



External Ids:

Orphanet53 ORPHA157798
ICD10 via Orphanet30 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 migraine with aura. An important gene associated with Hyperplastic Polyposis Syndrome is RNF43 (Ring Finger Protein 43), and among its related pathways are MAP2K and MAPK activation and G-protein signaling_K-RAS regulation pathway. Affiliated tissues include colon, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

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 72)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer28.2APC, BRAF, KRAS, MUTYH, RNF43, TP53
2migraine with aura10.4KRAS, MUTYH
3acquired amegakaryocytic thrombocytopenia10.4APC, MUTYH
4intrahepatic cholangiocarcinoma10.4KRAS, MUTYH
5pterygium colli mental retardation digital anomalies10.3BRAF, KRAS
6rad51c-related fanconi anemia10.3BRAF, KRAS
7pulmonary venoocclusive disease10.3BRAF, KRAS
8glomerulosclerosis, focal segmental, 710.3APC, MUTYH
9large intestine adenoma10.3APC, KRAS
10fibroma10.3BRAF, KRAS
11hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss10.3APC, RNF43
12radioulnar synostosis10.2BRAF, KRAS
13leukoencephalopathy palmoplantar keratoderma10.2BRAF, KRAS
14breast scirrhous carcinoma10.2KRAS, RNF43
15myelophthisic anemia10.2APC, BRAF
16ureter adenocarcinoma10.2KRAS, TP53
17rectum mucinous adenocarcinoma10.2KRAS, TP53
18adenofibroma10.2KRAS, TP53
19desmoid disease, hereditary10.2APC, MUTYH
20classic pulmonary blastoma10.2KRAS, TP53
21ovarian serous adenofibroma10.2KRAS, TP53
22advanced sleep phase syndrome10.2KRAS, TP53
23vibratory urticaria10.2KRAS, TP53
24ampulla of vater squamous cell carcinoma10.2APC, TP53
25gastric adenocarcinoma10.2KRAS, TP53
26leopard syndrome 110.1BRAF, KRAS
27pyoderma10.1KRAS, TP53
28pleomorphic xanthoastrocytoma10.1BRAF, TP53
29split hand split foot malformation autosomal recessive10.1BRAF, TP53
30hemangioma of lung10.1KRAS, TP53
31mucinous adenocarcinoma10.1APC, TP53
32stroma-dominant and stroma-poor composite ganglioneuroblastoma10.1KRAS, TP53
33multiple carboxylase deficiency10.1BRAF, TP53
34myoepithelial carcinoma10.1KRAS, TP53
35diencephalic astrocytomas10.1BRAF, TP53
36dental caries10.1KRAS, TP53
37cervical neuroblastoma10.1KRAS, TP53
38ovarian wilms' cancer10.1KRAS, TP53
39pancreatic somatostatinoma10.1KRAS, TP53
40gastric cancer, somatic10.1APC, KRAS, MUTYH
41rectum malignant melanoma10.0KRAS, TP53
42mixed epithelial stromal tumour10.0BRAF, TP53
43noonan syndrome 710.0BRAF, KRAS
44richter's syndrome9.9KRAS, TP53
45herpes simplex encephalitic 69.9APC, TP53
46kidney benign neoplasm9.9BRAF, TP53
47nodular degeneration of cornea9.9KRAS, TP53
48gastrointestinal neuroendocrine tumor9.9KRAS, MUTYH, TP53
49periapical granuloma9.9KRAS, MUTYH, TP53
50male reproductive organ benign neoplasm9.9KRAS, MUTYH, 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 395128-13-231401
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 [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol
2Gastrointestinal AgentsPhase 2, Phase 38109
3Cholagogues and CholereticsPhase 2, Phase 3127

Interventional clinical trials:

idNameStatusNCT IDPhase
1Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) PatientsUnknown statusNCT00134758Phase 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:

35
Colon

Animal Models for Hyperplastic Polyposis Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hyperplastic Polyposis Syndrome:

40 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0APC, KRAS, MBD4, TP53
2MP:00053778.9APC, BRAF, KRAS, TP53
3MP:00011868.8APC, BRAF, KRAS, TP53
4MP:00053798.5APC, BRAF, KRAS, RNF43, TP53
5MP:00053828.4APC, BRAF, KRAS, MBD4, TP53
6MP:00053808.4APC, BRAF, KRAS, MBD4, TP53
7MP:00053818.0APC, BRAF, KRAS, MBD4, RNF43, TP53
8MP:00036317.9APC, BRAF, KRAS, MBD4, MUTYH, TP53
9MP:00053847.6APC, BRAF, KRAS, MBD4, MUTYH, RNF43
10MP:00020067.5APC, BRAF, KRAS, MBD4, MUTYH, RNF43
11MP:00053917.5APC, BRAF, KRAS, MBD4, TP53

Publications for Hyperplastic Polyposis Syndrome

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Articles related to Hyperplastic Polyposis Syndrome:

(show all 21)
idTitleAuthorsYear
1
High prevalence of hyperplastic polyposis syndrome (serrated polyposis) in the NHS bowel cancer screening programme. (22851664)
2013
2
Phenotypic characterization and familial risk in hyperplastic polyposis syndrome. (24047395)
2013
3
Hyperplastic polyposis syndrome: phenotypic diversity and association to colorectal cancer]. (22809968)
2013
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
Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation. (22570761)
2012
7
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. (21228663)
2011
8
A serrated colorectal cancer pathway predominates over the classic WNT pathway in patients with hyperplastic polyposis syndrome. (21641392)
2011
9
Association of hyperplastic polyposis syndrome, colorectal cancer and meningioma. (21982888)
2011
10
Increased polyp detection using narrow band imaging compared with high resolution endoscopy in patients with hyperplastic polyposis syndrome. (21811939)
2011
11
Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome. (21347319)
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
A perspective on bi-allelic MUTYH mutations in patients with hyperplastic polyposis syndrome. (19406141)
2009
18
Is the phenotype mixed or mistaken? Hereditary nonpolyposis colorectal cancer and hyperplastic polyposis syndrome. (19934914)
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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Copy number variations for Hyperplastic Polyposis Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1121765184681058046865409Pathogenic mutation c.1264_1265delinsaSMAD4Serrated polyposis

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 29)
idSuper pathwaysScoreTop Affiliating Genes
19.4BRAF, KRAS
29.4BRAF, KRAS
39.4BRAF, KRAS
4
Show member pathways
9.4BRAF, KRAS
59.4BRAF, KRAS
69.2KRAS, TP53
7
Show member pathways
8.9APC, BRAF, KRAS
88.7APC, KRAS, TP53
98.7APC, KRAS, TP53
108.7APC, KRAS, TP53
118.6BRAF, KRAS, TP53
12
Show member pathways
8.6BRAF, KRAS, TP53
13
Show member pathways
8.6BRAF, KRAS, TP53
14
Show member pathways
8.6BRAF, KRAS, TP53
15
Show member pathways
8.6BRAF, KRAS, TP53
168.6BRAF, KRAS, TP53
178.6BRAF, KRAS, TP53
188.6BRAF, KRAS, TP53
19
Show member pathways
8.6BRAF, KRAS, TP53
208.6BRAF, KRAS, TP53
218.6BRAF, KRAS, TP53
22
Show member pathways
8.6BRAF, KRAS, TP53
23
Show member pathways
8.6BRAF, KRAS, TP53
24
Show member pathways
8.6BRAF, KRAS, TP53
258.1APC, BRAF, KRAS, TP53
268.1APC, BRAF, KRAS, TP53
27
Show member pathways
8.1APC, BRAF, KRAS, TP53
28
Show member pathways
8.1APC, BRAF, KRAS, TP53
298.1APC, 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:

idNameGO IDScoreTop Affiliating Genes
1visual learningGO:00085429.4BRAF, KRAS
2positive regulation of gene expressionGO:00106288.6BRAF, KRAS, TP53

Molecular functions related to Hyperplastic Polyposis Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA N-glycosylase activityGO:00191049.5MBD4, MUTYH

Sources for Hyperplastic Polyposis Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet