GAPPS
MCID: GST086
MIFTS: 30

Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

MalaCards integrated aliases for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach:

Name: Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 57 58 6
Polyposis, Gastric 57 54 70
Polyposis of Gastric Fundus Without Polyposis Coli 57 70
Gapps 57 58
Polyposis, Gastric; Polyposis of Gastric Fundus Without Polyposis Coli 57
Familial Fundic Gland Polyposis with Gastric Cancer 58
Fundic Gland Polyposis 57
Gastric Polyposis 6

Characteristics:

Orphanet epidemiological data:

58
gastric adenocarcinoma and proximal polyposis of the stomach
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
patients do not exhibit polyposis of the duodenum or colon
mutations are located in the 1b promoter of the apc gene


HPO:

31
gastric adenocarcinoma and proximal polyposis of the stomach:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

OMIM® 57 619182
Orphanet 58 ORPHA314022
SNOMED-CT via HPO 68 263681008 78809005 87252009
UMLS 70 C0236048 C1868001

Summaries for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

OMIM® : 57 Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is characterized by autosomal dominant transmission of fundic gland polyposis (FGP) with occasional hyperplastic and adenomatous polyps, sparing of the gastric antrum, and the development of intestinal-type gastric adenocarcinoma. Colorectal polyposis is not observed, and family history does not include colorectal cancer (Worthley et al., 2012). (619182) (Updated 05-Apr-2021)

MalaCards based summary : Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, also known as polyposis, gastric, is related to adenocarcinoma and gastric adenocarcinoma. An important gene associated with Gastric Adenocarcinoma and Proximal Polyposis of the Stomach is APC (APC Regulator Of WNT Signaling Pathway). The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include colon, and related phenotypes are multiple gastric polyps and abnormality of the gastric mucosa

Wikipedia : 73 Fundic gland polyposis is a medical syndrome where the fundus and the body of the stomach develop many... more...

Related Diseases for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

Diseases related to Gastric Adenocarcinoma and Proximal Polyposis of the Stomach via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 adenocarcinoma 10.8
2 gastric adenocarcinoma 10.8
3 gastric cancer, hereditary diffuse 10.6
4 tumor predisposition syndrome 10.6
5 cutaneous telangiectasia and cancer syndrome, familial 10.6
6 inherited cancer-predisposing syndrome 10.6
7 familial adenomatous polyposis 10.5
8 apc-associated polyposis conditions 10.5
9 familial adenomatous polyposis 1 10.4
10 helicobacter pylori infection 10.4
11 gastric cancer 10.4
12 adenoma 10.4
13 gastritis 10.3
14 deficiency anemia 10.3
15 colorectal adenocarcinoma 10.3
16 adenocarcinoma in situ 10.3
17 hereditary gastric cancer 10.3
18 attenuated familial adenomatous polyposis 10.2
19 juvenile polyposis syndrome 10.1
20 intussusception 10.1
21 celiac disease 1 10.1
22 microinvasive gastric cancer 10.1
23 duodenal ulcer 10.1
24 acne 10.1
25 pernicious anemia 10.1
26 iron metabolism disease 10.1
27 polyposis, skin pigmentation, alopecia, and fingernail changes 10.0
28 myeloma, multiple 10.0
29 langerhans cell histiocytosis 10.0
30 portal hypertension 10.0
31 gastric ulcer 10.0
32 iron deficiency anemia 10.0
33 histiocytosis 10.0
34 cowden syndrome 10.0
35 inflammatory bowel disease 9.9
36 crohn's colitis 9.9
37 ulcerative colitis 9.9
38 crohn's disease 9.9
39 multiple endocrine neoplasia, type i 9.8
40 peutz-jeghers syndrome 9.8
41 fanconi anemia, complementation group a 9.8
42 mismatch repair cancer syndrome 1 9.8
43 endometrial cancer 9.8
44 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.8
45 colorectal adenoma 9.8
46 lymphoproliferative syndrome 9.8
47 bone disease 9.8
48 endocarditis 9.8
49 gastric lymphoma 9.8
50 telangiectasis 9.8

Graphical network of the top 20 diseases related to Gastric Adenocarcinoma and Proximal Polyposis of the Stomach:



Diseases related to Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

Symptoms & Phenotypes for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

Human phenotypes related to Gastric Adenocarcinoma and Proximal Polyposis of the Stomach:

31
# Description HPO Frequency HPO Source Accession
1 multiple gastric polyps 31 HP:0004394
2 abnormality of the gastric mucosa 31 HP:0004295

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen:
ascites

Neoplasia:
stomach cancer

Abdomen Gastrointestinal:
abdominal pain
melena
digestive problems
polyposis of proximal stomach
gastric adenocarcinoma of the intestinal type

Abdomen Liver:
metastases from gastric cancer

Clinical features from OMIM®:

619182 (Updated 05-Apr-2021)

Drugs & Therapeutics for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

Drugs for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin
2 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effectiveness of the Geriatric Activation Program Pellenberg (GAPP) on the Geriatric Rehabilitation Ward Completed NCT03109483
2 GAPP 1 Survey: Global Attitudes of Patients and Physicians in Insulin Therapy for Diabetes Mellitus Completed NCT01950650
3 GAPP 2 Survey: Global Attitudes of Patients and Physicians in Insulin Therapy for Type 2 Diabetes Mellitus Completed NCT01950637
4 A Personalized Surveillance and Intervention Protocol for Duodenal and Gastric Polyposis in Patients With Familial Adenomatous Polyposis Recruiting NCT04677998

Search NIH Clinical Center for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

Genetic Tests for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

Anatomical Context for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

MalaCards organs/tissues related to Gastric Adenocarcinoma and Proximal Polyposis of the Stomach:

40
Colon

Publications for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

Articles related to Gastric Adenocarcinoma and Proximal Polyposis of the Stomach:

(show all 40)
# Title Authors PMID Year
1
Two Asian families with gastric adenocarcinoma and proximal polyposis of the stomach successfully treated via laparoscopic total gastrectomy. 61 6 57
33242120 2021
2
GAPPS - Gastric Adenocarcinoma and Proximal Polyposis of the Stomach Syndrome in 8 Families Tested at Masaryk Memorial Cancer Institute - Prevention and Prophylactic Gastrectomies. 6 57 61
31409086 2019
3
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) - a rare recently described gastric polyposis syndrome - report of a case. 61 57 6
29141268 2017
4
The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature. 61 57 6
27343414 2016
5
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. 6 61 57
27087319 2016
6
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. 61 57 6
21813476 2012
7
Familial gastric polyposis revisited. Autosomal dominant inheritance confirmed. 57
1645228 1991
8
The histopathology of fundic gland polyps of the stomach. 57
3020962 1986
9
Familial gastric polyposis. A new entity. 57
7463029 1980
10
Gastric lesions in familial adenomatosis coli: their incidence and histologic analysis. 57
26633 1978
11
Gastric lesion of familial polyposis coli. 57
4852134 1974
12
Recent advances in the pathology of heritable gastric cancer syndromes. 61
33382491 2021
13
Multifocal Intramucosal Gastric Adenocarcinoma Arising in Fundic Gland Polyposis Due to Gastric Adenocarcinoma and Proximal Polyposis of the Stomach. 61
32453049 2021
14
The clinicopathological and molecular features of sporadic gastric foveolar type neoplasia. 61
32533343 2020
15
Genetic Gastric Cancer Risk Syndromes. 61
33776403 2020
16
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach Occurring With Ball Valve Syndrome. 61
32712389 2020
17
Gastric adenocarcinoma and proximal polyposis of the stomach – a rare form of hereditary gastric cancer. 61
32378851 2020
18
[Hereditary gastric cancer: Challenges for the pathologist in 2020]. 61
32147190 2020
19
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations. 61
31070935 2019
20
A Central European family with gastric adenocarcinoma and proximal polyposis of the stomach. 61
31077701 2019
21
An Update on Inherited Colon Cancer and Gastrointestinal Polyposis. 61
31409085 2019
22
First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region. 61
29968043 2018
23
Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing. 61
29397239 2018
24
Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives. 61
30584346 2018
25
Neoplastic Lesions of Gastric Adenocarcinoma and Proximal Polyposis Syndrome (GAPPS) Are Gastric Phenotype. 61
29112017 2018
26
Emerging Concepts in Gastric Neoplasia: Heritable Gastric Cancers and Polyposis Disorders. 61
29103540 2017
27
[Hereditary gastric and pancreatic cancer]. 61
28484856 2017
28
β-Catenin activation in fundic gland polyps, gastric cancer and colonic polyps in families afflicted by 'gastric adenocarcinoma and proximal polyposis of the stomach' (GAPPS). 61
27406052 2016
29
Pathology and Genetics of Syndromic Gastric Polyps. 61
26721304 2016
30
Upper gastrointestinal tumours in Japanese familial adenomatous polyposis patients. 61
26819281 2016
31
Cronkhite-Canada syndrome: a rare case report and literature review. 61
26911542 2016
32
Syndromic Gastric Polyps: At the Crossroads of Genetic and Environmental Cancer Predisposition. 61
27573780 2016
33
Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer. 61
25576241 2015
34
Familial gastric cancer: genetic susceptibility, pathology, and implications for management. 61
25638682 2015
35
Clinical characteristics of gastric cancer in patients with familial adenomatous polyposis. 61
23343691 2013
36
Hereditary gastric cancer. 61
23052347 2012
37
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. 61
21416598 2011
38
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 61
17873119 2007
39
APC-Associated Polyposis Conditions 61
20301519 1998
40
[A case of hepatic metastasis of rectal cancer with familial adenomatous polyposis treated by transarterial administration of low-dose leucovorin and 5-FU]. 54
9492838 1998

Variations for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

ClinVar genetic disease variations for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_001127511.3(APC):c.-125del Deletion Pathogenic 243004 rs879253781 GRCh37: 5:112043290-112043290
GRCh38: 5:112707593-112707593
2 APC NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) Microsatellite Pathogenic 816 rs121913224 GRCh37: 5:112175212-112175216
GRCh38: 5:112839515-112839519
3 APC NM_001127511.3(APC):c.-191T>C SNV Pathogenic 243005 rs879253783 GRCh37: 5:112043224-112043224
GRCh38: 5:112707527-112707527
4 APC NM_001127511.3(APC):c.-192A>G SNV Pathogenic 243006 rs879253784 GRCh37: 5:112043223-112043223
GRCh38: 5:112707526-112707526

Expression for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

Search GEO for disease gene expression data for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach.

Pathways for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

GO Terms for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

Sources for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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