MCID: PLY073
MIFTS: 22

Polyposis, Gastric

Categories: Gastrointestinal diseases

Aliases & Classifications for Polyposis, Gastric

MalaCards integrated aliases for Polyposis, Gastric:

Name: Polyposis, Gastric 57 55 73
Gastric Polyposis 29 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
polyposis, gastric:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 175020
MedGen 42 C0236048
SNOMED-CT via HPO 69 263681008 78809005 87252009
UMLS 73 C0236048

Summaries for Polyposis, Gastric

MalaCards based summary : Polyposis, Gastric, also known as gastric polyposis, is related to polyposis, skin pigmentation, alopecia, and fingernail changes and juvenile polyposis syndrome. An important gene associated with Polyposis, Gastric is APC (APC, WNT Signaling Pathway Regulator). The drugs Amoxicillin and Clarithromycin have been mentioned in the context of this disorder. Related phenotype is multiple gastric polyps.

Description from OMIM: 175020

Related Diseases for Polyposis, Gastric

Diseases related to Polyposis, Gastric via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polyposis, skin pigmentation, alopecia, and fingernail changes 11.0
2 juvenile polyposis syndrome 9.8
3 multiple endocrine neoplasia, type i 9.7
4 familial adenomatous polyposis 1 9.7
5 gastric cancer 9.7
6 familial adenomatous polyposis 9.7

Graphical network of the top 20 diseases related to Polyposis, Gastric:



Diseases related to Polyposis, Gastric

Symptoms & Phenotypes for Polyposis, Gastric

Symptoms via clinical synopsis from OMIM:

57
GI:
multiple gastric polyps

Oncology:
stomach adenocarcinoma propensity


Clinical features from OMIM:

175020

Human phenotypes related to Polyposis, Gastric:

32
# Description HPO Frequency HPO Source Accession
1 multiple gastric polyps 32 HP:0004394

Drugs & Therapeutics for Polyposis, Gastric

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
2
Clarithromycin Approved Phase 4 81103-11-9 84029
3
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
4
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
5 Anti-Bacterial Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Cytochrome P-450 CYP3A Inhibitors Phase 4
8 Cytochrome P-450 Enzyme Inhibitors Phase 4
9 Antacids Phase 4
10 Anti-Ulcer Agents Phase 4
11 Gastrointestinal Agents Phase 4
12 Proton Pump Inhibitors Phase 4
13
Fentanyl Approved, Illicit, Investigational, Vet_approved Not Applicable 437-38-7 3345
14
Midazolam Approved, Illicit Not Applicable 59467-70-8 4192
15 Cola Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dual Therapy With High Doses of Ilaprazole and Amoxicillin for Helicobacter Pylori Infection Completed NCT02401477 Phase 4 Ilaprazole + Amoxicillin
2 Effect of H. Pylori Eradication on the Fate of H. Pylori-associated Gastric Polyp Recruiting NCT03065868 Phase 4 H. pylori eradication (Amoxaxillin, Lanston, Clarithromycin)
3 Vonoprazan Study in Patients With Erosive Esophagitis to Evaluate Long-term Safety Active, not recruiting NCT02679508 Phase 4 Vonoprazan;Lansoprazole
4 Magnetic-controlled Capsule Endoscopy vs. Gastroscopy for Detection of Gastric Diseases Completed NCT02219529 Phase 3
5 Remote-controlled Capsule Endoscopy: a Feasibility Study Unknown status NCT01946633 Not Applicable
6 Optimal Procedural Sequence in Same-day Bidirectional Endoscopy: A Prospective Randomized Controlled Study Completed NCT02708212 Not Applicable
7 Endoscopic Resection Multicenter Registry Recruiting NCT03065257
8 Fundic Gland Polyps and Proton Pump Inhibitor (PPI) Drugs Terminated NCT01130363

Search NIH Clinical Center for Polyposis, Gastric

Genetic Tests for Polyposis, Gastric

Genetic tests related to Polyposis, Gastric:

# Genetic test Affiliating Genes
1 Gastric Polyposis 29

Anatomical Context for Polyposis, Gastric

Publications for Polyposis, Gastric

Articles related to Polyposis, Gastric:

(show all 16)
# Title Authors Year
1
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) - a rare recently described gastric polyposis syndrome - report of a case. ( 29141268 )
2017
2
Massive Gastric Polyposis Associated with Juvenile Polyposis Syndrome. ( 27301526 )
2016
3
Multiple endocrine neoplasia type 1 with gastric neuroendocrine tumor presented with gastric polyposis. ( 25460558 )
2015
4
Massive gastric polyposis associated with a germline SMAD4 gene mutation. ( 26159157 )
2015
5
Gastric polyposis associated with portal hypertension. ( 23526873 )
2013
6
[Juvenile gastric polyposis in a patient with antiphospholipid syndrome]. ( 23739735 )
2013
7
A rare gastric polyposis: Cronkhite-Canada syndrome. ( 23021871 )
2012
8
Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis. ( 22826269 )
2012
9
Total gastrectomy and pancreaticoduodenectomy for gastric polyposis and duodenal ampullary adenoma in a patient with attenuated familial adenomatous polyposis. ( 21375864 )
2011
10
Degenerative gastric polyposis and pernicious anemia. ( 19505789 )
2009
11
Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature. ( 18395919 )
2008
12
Hyperplastic gastric polyposis, hypergastrinaemia and colorectal neoplasia: a description of four cases. ( 14624161 )
2003
13
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. ( 12136244 )
2002
14
Diffuse gastric polyposis: report of a case. ( 12517046 )
2002
15
Langerhans cell histiocytosis of the stomach. A cause of granulomatous gastritis and gastric polyposis. ( 7979922 )
1994
16
Gastroscopy findings confirming diagnosis in two unusual cases. (Mallory-Weiss syndrome and Gastric polyposis). ( 4518871 )
1973

Variations for Polyposis, Gastric

ClinVar genetic disease variations for Polyposis, Gastric:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APC NM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs) deletion Pathogenic rs121913224 GRCh37 Chromosome 5, 112175218: 112175222
2 APC NM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs) deletion Pathogenic rs121913224 GRCh38 Chromosome 5, 112839521: 112839525

Expression for Polyposis, Gastric

Search GEO for disease gene expression data for Polyposis, Gastric.

Pathways for Polyposis, Gastric

GO Terms for Polyposis, Gastric

Sources for Polyposis, Gastric

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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