MCID: HYP466
MIFTS: 32

Hyperplastic Polyposis Syndrome malady

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Hyperplastic Polyposis Syndrome

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Hyperplastic Polyposis Syndrome:

Name: Hyperplastic Polyposis Syndrome 54
 
Serrated Polyposis 54

Characteristics:

Orphanet epidemiological data:

54
hyperplastic polyposis syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial

Classifications:



External Ids:

Orphanet54 ORPHA157798
ICD10 via Orphanet31 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 htr2a-related altered drug metabolism. An important gene associated with Hyperplastic Polyposis Syndrome is RNF43 (Ring Finger Protein 43), and among its related pathways are Copper homeostasis and Ovarian tumor domain proteases. Affiliated tissues include colon, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer29.2APC, BRAF, KRAS, MUTYH, RNF43, TP53
2htr2a-related altered drug metabolism10.2APC, MUTYH
3hereditary sensory and autonomic neuropathy with deafness and global delay10.2APC, MUTYH
4autoimmune autonomic ganglionopathy10.2APC, MUTYH
5chronic venous insufficiency10.2APC, KRAS
6glomerulosclerosis, focal segmental, 710.2APC, MUTYH
7pseudomonas stutzeri infections10.2BRAF, KRAS
8rdh12-related leber congenital amaurosis10.1BRAF, KRAS
9biliary papillomatosis10.1BRAF, KRAS
10parachordoma10.1BRAF, KRAS
11syndactyly-polydactyly-earlobe syndrome10.1BRAF, KRAS
12large cell neuroendocrine carcinoma10.1BRAF, KRAS
13rectum adenoma10.1APC, KRAS
14spastic diplegia infantile type10.0BRAF, KRAS
15well-differentiated thymic neuroendocrine carcinoma10.0BRAF, TP53
16endometrial squamous cell carcinoma10.0APC, TP53
17pineal gland astrocytoma10.0BRAF, TP53
18gastric cancer, somatic10.0APC, KRAS, MUTYH
19spondylarthropathy10.0BRAF, TP53
20tmem70 defect10.0BRAF, TP53
21scarlet fever10.0BRAF, TP53
22brain stem astrocytic neoplasm10.0BRAF, TP53
23breast ductal carcinoma10.0KRAS, TP53
24amyloid tumor10.0BRAF, TP53
25glomeruloid hemangioma10.0APC, BRAF, KRAS
26adult syndrome10.0KRAS, TP53
27postpoliomyelitis syndrome10.0KRAS, TP53
28bone deterioration disease10.0KRAS, TP53
29exudative glomerulonephritis10.0KRAS, TP53
30submucosal invasive colon adenocarcinoma10.0APC, TP53
31giant cell tumor10.0KRAS, TP53
32uterine corpus endometrial stromal sarcoma10.0KRAS, TP53
33papillary adenofibroma10.0KRAS, TP53
34tabes dorsalis10.0KRAS, TP53
35ossifying fibromyxoid tumor10.0KRAS, TP53
36aicardi-goutieres syndrome10.0KRAS, TP53
37arthus reaction10.0KRAS, TP53
38plasmacytoma9.9KRAS, TP53
39tamoxifen-related endometrial lesion9.9KRAS, TP53
40retroperitoneal neuroblastoma9.9KRAS, TP53
41asperger syndrome9.9APC, MUTYH, TP53
42inner ear cancer9.9BRAF, TP53
43myxedema9.9KRAS, TP53
44advanced sleep phase syndrome9.9KRAS, MUTYH, TP53
45congenital symblepharon9.9KRAS, MUTYH, TP53
46vestibular gland benign neoplasm9.9KRAS, MUTYH, TP53
47rectum sarcoma9.9KRAS, MUTYH, TP53
48proctitis9.9KRAS, MUTYH, TP53
49allergic contact dermatitis9.9KRAS, TP53
50hnrnpa1-related amyotrophic lateral sclerosis9.9APC, BRAF, KRAS, MUTYH

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



Diseases related to hyperplastic polyposis syndrome

Symptoms & Phenotypes for Hyperplastic Polyposis Syndrome

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GenomeRNAi Phenotypes related to Hyperplastic Polyposis Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-39.0BRAF, MBD4, MUTYH, TP53

MGI Mouse Phenotypes related to Hyperplastic Polyposis Syndrome according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2APC, BRAF, KRAS, TP53
2MP:00011869.1APC, BRAF, KRAS, TP53
3MP:00053718.9APC, KRAS, MBD4, TP53
4MP:00053798.8APC, 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

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 397128-13-231401
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 38402
3Cholagogues and CholereticsPhase 2, Phase 3130

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:

36
Colon

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 Identified with a BRAF Mutation. (22570761)
2012
6
Hyperplastic polyposis syndrome and the risk of colorectal cancer. (21636642)
2012
7
A serrated colorectal cancer pathway predominates over the classic WNT pathway in patients with hyperplastic polyposis syndrome. (21641392)
2011
8
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. (21228663)
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
Hyperplastic polyposis syndrome is associated with cigarette smoking, which may be a modifiable risk factor. (20125129)
2010
13
Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome. (20584785)
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
Is the phenotype mixed or mistaken? Hereditary nonpolyposis colorectal cancer and hyperplastic polyposis syndrome. (19934914)
2009
17
Hyperplastic polyposis syndrome: a pilot study for the differentiation of polyps by using high-resolution endoscopy, autofluorescence imaging, and narrow-band imaging. (19595313)
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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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 33)
idSuper pathwaysScoreTop Affiliating Genes
19.5APC, TP53
29.5APC, TP53
39.4APC, KRAS
49.3BRAF, KRAS
59.3BRAF, KRAS
69.3BRAF, KRAS
79.3BRAF, KRAS
8
Show member pathways
8.9APC, BRAF, KRAS
9
Show member pathways
8.9APC, KRAS, TP53
108.9APC, KRAS, TP53
118.9APC, KRAS, TP53
128.9APC, KRAS, TP53
13
Show member pathways
8.8BRAF, KRAS, TP53
14
Show member pathways
8.8BRAF, KRAS, TP53
15
Show member pathways
8.8BRAF, KRAS, TP53
16
Show member pathways
8.8BRAF, KRAS, TP53
178.8BRAF, KRAS, TP53
188.8BRAF, KRAS, TP53
198.8BRAF, KRAS, TP53
20
Show member pathways
8.8BRAF, KRAS, TP53
21
Show member pathways
8.8BRAF, KRAS, TP53
22
Show member pathways
8.8BRAF, KRAS, TP53
23
Show member pathways
8.8BRAF, KRAS, TP53
248.8BRAF, KRAS, TP53
25
Show member pathways
8.8BRAF, KRAS, TP53
268.8BRAF, KRAS, TP53
278.4APC, BRAF, KRAS, TP53
28
Show member pathways
8.4APC, BRAF, KRAS, TP53
29
Show member pathways
8.4APC, BRAF, KRAS, TP53
30
Show member pathways
8.4APC, BRAF, KRAS, TP53
31
Show member pathways
8.4APC, BRAF, KRAS, TP53
328.4APC, BRAF, KRAS, TP53
338.4APC, 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
1negative regulation of Wnt signaling pathwayGO:003017810.3APC, RNF43
2base-excision repairGO:000628410.2MUTYH, TP53
3visual learningGO:00085429.3BRAF, KRAS
4positive regulation of gene expressionGO:00106289.3BRAF, KRAS, TP53
5cellular response to DNA damage stimulusGO:00069748.9APC, MBD4, MUTYH, TP53

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

idNameGO IDScoreTop Affiliating Genes
1DNA N-glycosylase activityGO:00191049.2MBD4, MUTYH

Sources for Hyperplastic Polyposis Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet