MCID: HYP466
MIFTS: 32

Hyperplastic Polyposis Syndrome malady

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Hyperplastic Polyposis Syndrome

Aliases & Descriptions for Hyperplastic Polyposis Syndrome:

Name: Hyperplastic Polyposis Syndrome 56
Serrated Polyposis 56

Characteristics:

Orphanet epidemiological data:

56
hyperplastic polyposis syndrome
Inheritance: Autosomal dominant,Multigenic/multifactorial;

Classifications:



External Ids:

Orphanet 56 ORPHA157798
ICD10 via Orphanet 34 D12.6

Summaries for Hyperplastic Polyposis Syndrome

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/superpathways are Glioma and Development HGF signaling pathway. The drugs Ursodeoxycholic acid and Cholagogues and Choleretics have been mentioned in the context of this disorder. Affiliated tissues include colon, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

Related Diseases for Hyperplastic Polyposis Syndrome

Diseases related to Hyperplastic Polyposis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 29.2 APC BRAF KRAS MUTYH RNF43 TP53
2 htr2a-related altered drug metabolism 10.2 APC MUTYH
3 hereditary sensory and autonomic neuropathy with deafness and global delay 10.2 APC MUTYH
4 autoimmune autonomic ganglionopathy 10.2 APC MUTYH
5 chronic venous insufficiency 10.2 APC KRAS
6 glomerulosclerosis, focal segmental, 7 10.2 APC MUTYH
7 pseudomonas stutzeri infections 10.2 BRAF KRAS
8 rdh12-related leber congenital amaurosis 10.1 BRAF KRAS
9 biliary papillomatosis 10.1 BRAF KRAS
10 parachordoma 10.1 BRAF KRAS
11 syndactyly-polydactyly-earlobe syndrome 10.1 BRAF KRAS
12 large cell neuroendocrine carcinoma 10.1 BRAF KRAS
13 rectum adenoma 10.1 APC KRAS
14 spastic diplegia infantile type 10.0 BRAF KRAS
15 well-differentiated thymic neuroendocrine carcinoma 10.0 BRAF TP53
16 endometrial squamous cell carcinoma 10.0 APC TP53
17 pineal gland astrocytoma 10.0 BRAF TP53
18 gastric cancer, somatic 10.0 APC KRAS MUTYH
19 spondylarthropathy 10.0 BRAF TP53
20 tmem70 defect 10.0 BRAF TP53
21 scarlet fever 10.0 BRAF TP53
22 brain stem astrocytic neoplasm 10.0 BRAF TP53
23 breast ductal carcinoma 10.0 KRAS TP53
24 amyloid tumor 10.0 BRAF TP53
25 glomeruloid hemangioma 10.0 APC BRAF KRAS
26 adult syndrome 10.0 KRAS TP53
27 postpoliomyelitis syndrome 10.0 KRAS TP53
28 bone deterioration disease 10.0 KRAS TP53
29 exudative glomerulonephritis 10.0 KRAS TP53
30 submucosal invasive colon adenocarcinoma 10.0 APC TP53
31 giant cell tumor 10.0 KRAS TP53
32 uterine corpus endometrial stromal sarcoma 10.0 KRAS TP53
33 papillary adenofibroma 10.0 KRAS TP53
34 tabes dorsalis 10.0 KRAS TP53
35 ossifying fibromyxoid tumor 10.0 KRAS TP53
36 aicardi-goutieres syndrome 10.0 KRAS TP53
37 arthus reaction 10.0 KRAS TP53
38 plasmacytoma 9.9 KRAS TP53
39 tamoxifen-related endometrial lesion 9.9 KRAS TP53
40 retroperitoneal neuroblastoma 9.9 KRAS TP53
41 asperger syndrome 9.9 APC MUTYH TP53
42 inner ear cancer 9.9 BRAF TP53
43 myxedema 9.9 KRAS TP53
44 advanced sleep phase syndrome 9.9 KRAS MUTYH TP53
45 congenital symblepharon 9.9 KRAS MUTYH TP53
46 vestibular gland benign neoplasm 9.9 KRAS MUTYH TP53
47 rectum sarcoma 9.9 KRAS MUTYH TP53
48 proctitis 9.9 KRAS MUTYH TP53
49 allergic contact dermatitis 9.9 KRAS TP53
50 hnrnpa1-related amyotrophic lateral sclerosis 9.9 APC 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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 MUTYH TP53 BRAF MBD4

MGI Mouse Phenotypes related to Hyperplastic Polyposis Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.04 MUTYH BRAF RNF43 TP53 KRAS APC
2 digestive/alimentary MP:0005381 9.93 BRAF RNF43 TP53 KRAS APC MBD4
3 craniofacial MP:0005382 9.88 MBD4 BRAF TP53 KRAS APC
4 embryo MP:0005380 9.83 APC MBD4 BRAF TP53 KRAS
5 endocrine/exocrine gland MP:0005379 9.8 TP53 APC RNF43 BRAF KRAS
6 neoplasm MP:0002006 9.8 BRAF MUTYH RNF43 TP53 KRAS APC
7 hearing/vestibular/ear MP:0005377 9.67 BRAF TP53 KRAS APC
8 nervous system MP:0003631 9.63 APC MBD4 MUTYH BRAF TP53 KRAS
9 limbs/digits/tail MP:0005371 9.62 TP53 APC MBD4 KRAS
10 pigmentation MP:0001186 9.26 BRAF TP53 KRAS APC
11 vision/eye MP:0005391 9.02 MBD4 BRAF TP53 KRAS APC

Drugs & Therapeutics for Hyperplastic Polyposis Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
2 Cholagogues and Choleretics Phase 2, Phase 3
3 Gastrointestinal Agents Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients Unknown status NCT00134758 Phase 2, Phase 3
2 Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime Time Completed NCT02196402

Search NIH Clinical Center for Hyperplastic Polyposis Syndrome

Genetic Tests for Hyperplastic Polyposis Syndrome

Anatomical Context for Hyperplastic Polyposis Syndrome

MalaCards organs/tissues related to Hyperplastic Polyposis Syndrome:

39
Colon

Publications for Hyperplastic Polyposis Syndrome

Articles related to Hyperplastic Polyposis Syndrome:

(show all 21)
id Title Authors Year
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

Copy number variations for Hyperplastic Polyposis Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 121765 18 46810580 46865409 Pathogenic mutation c.1264_1265delinsa SMAD4 Serrated polyposis

Expression for Hyperplastic Polyposis Syndrome

Search GEO for disease gene expression data for Hyperplastic Polyposis Syndrome.

Pathways for Hyperplastic Polyposis Syndrome

Pathways related to Hyperplastic Polyposis Syndrome according to GeneCards Suite gene sharing:

(show all 33)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 APC BRAF KRAS TP53
2
Show member pathways
12.49 APC BRAF KRAS TP53
3
Show member pathways
12.42 BRAF KRAS TP53
4 12.39 APC BRAF KRAS
5 12.33 APC BRAF KRAS TP53
6
Show member pathways
12.32 BRAF KRAS TP53
7 12.29 APC KRAS TP53
8 12.21 APC KRAS TP53
9
Show member pathways
12.14 APC KRAS TP53
10
Show member pathways
12.09 APC BRAF KRAS TP53
11
Show member pathways
12.07 BRAF KRAS TP53
12
Show member pathways
12.05 BRAF KRAS TP53
13 12.05 BRAF KRAS TP53
14
Show member pathways
11.95 BRAF KRAS TP53
15
Show member pathways
11.93 BRAF KRAS TP53
16
Show member pathways
11.91 APC BRAF KRAS TP53
17 11.9 BRAF KRAS TP53
18
Show member pathways
11.88 BRAF KRAS TP53
19
Show member pathways
11.83 BRAF KRAS TP53
20 11.77 BRAF KRAS TP53
21 11.69 APC KRAS TP53
22 11.67 APC BRAF KRAS TP53
23 11.51 BRAF KRAS TP53
24 11.44 BRAF KRAS
25 11.41 BRAF KRAS TP53
26 11.38 APC TP53
27 11.2 APC TP53
28 11.15 BRAF KRAS
29 11.09 APC KRAS
30 11.05 BRAF KRAS
31 11.02 BRAF KRAS
32 10.97 APC BRAF KRAS TP53
33 10.59 BRAF KRAS TP53

GO Terms for Hyperplastic Polyposis Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.43 BRAF KRAS TP53
2 negative regulation of Wnt signaling pathway GO:0030178 9.32 APC RNF43
3 visual learning GO:0008542 9.16 BRAF KRAS
4 base-excision repair GO:0006284 8.96 MUTYH TP53
5 cellular response to DNA damage stimulus GO:0006974 8.92 APC MBD4 MUTYH TP53

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

id Name GO ID Score Top Affiliating Genes
1 DNA N-glycosylase activity GO:0019104 8.62 MBD4 MUTYH

Sources for Hyperplastic Polyposis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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