MCID: GST095
MIFTS: 41

Gastritis, Familial Giant Hypertrophic

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Gastritis, Familial Giant Hypertrophic

MalaCards integrated aliases for Gastritis, Familial Giant Hypertrophic:

Name: Gastritis, Familial Giant Hypertrophic 57 70
Menetrier Disease 57 12 20 58 54
Gastric Mucosal Hypertrophy 12 15 17
Giant Hypertrophic Gastritis 20 58
Hypertrophic Gastropathy 12 20
Gastritis, Hypertrophic 44 70
Hypoproteinemic Hypertrophic Gastropathy 58
Giant Hypertrophy of the Gastric Mucosa 20
Familial Giant Hypertrophic Gastritis 12
Giant Rugal Hypertrophy of Stomach 12
Gastroenteropathy, Protein Losing 20
Giant Hypertrophic Gastropathy 20
Hypertrophic Gastritis 12
Menetrier's Disease 73

Characteristics:

Orphanet epidemiological data:

58
menetrier disease
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly;

OMIM®:

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

Miscellaneous:
patients may present with asthenia


HPO:

31
gastritis, familial giant hypertrophic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Gastritis, Familial Giant Hypertrophic

GARD : 20 Menetrier disease is a gastrointestinal condition characterized by overgrowth of the mucous cells (foveola) in the mucous membrane lining the stomach, causing enlarged gastric folds. This leads to excessive mucus production, causing protein loss from the stomach and low or absent levels of stomach acid. Symptoms may include pain in the upper middle region of the stomach, nausea, vomiting, and diarrhea. The cause of Menetrier disease is largely not known, although some cases are associated with infection, particularly pediatric cases, which can be caused by CMV infections. Treatment may include medications such as cetuximab and gastrectomy in severe cases.

MalaCards based summary : Gastritis, Familial Giant Hypertrophic, also known as menetrier disease, is related to lymphocytic gastritis and protein-losing enteropathy, and has symptoms including dyspepsia An important gene associated with Gastritis, Familial Giant Hypertrophic is TGFA (Transforming Growth Factor Alpha), and among its related pathways/superpathways are Gastric acid production and Secretion of Hydrochloric Acid in Parietal Cells. The drugs Cetuximab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Related phenotypes are giant hypertrophic gastritis and vomiting

More information from OMIM: 137280

Related Diseases for Gastritis, Familial Giant Hypertrophic

Diseases related to Gastritis, Familial Giant Hypertrophic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 211)
# Related Disease Score Top Affiliating Genes
1 lymphocytic gastritis 30.5 ATP4A ATP12A
2 protein-losing enteropathy 30.3 SERPINA1 ALB
3 autoimmune gastritis 30.2 GAST ATP4A
4 eosinophilic gastroenteritis 30.1 ATP12A ALB
5 granulomatous gastritis 30.1 GAST ATP4A ATP12A
6 diarrhea 30.1 SERPINA1 GAST ALB
7 pernicious anemia 30.1 GAST ATP4A ATP12A
8 peptic ulcer disease 30.0 GAST ATP4A ATP12A
9 zollinger-ellison syndrome 30.0 GAST ATP4A ATP12A
10 exanthem 30.0 ATP4A ATP12A ALB
11 duodenitis 29.8 GAST ATP4A ATP12A ALB
12 hernia, hiatus 29.7 GAST BARX1 ATP4A ATP12A
13 atrophic gastritis 29.5 TFF2 MUC6 GAST
14 gastritis 29.4 TGFA TFF2 MUC6 GAST ATP4A
15 microinvasive gastric cancer 29.4 TFF2 MUC6 GAST ATP4A ATP12A
16 non-hypoproteinemic hypertrophic gastropathy 11.3
17 ostertagiasis 10.3 GAST ALB
18 laryngitis 10.3 ATP4A ATP12A
19 vagus nerve disease 10.3 ATP4A ATP12A
20 necrotizing gastritis 10.3 ATP4A ATP12A
21 scalp dermatosis 10.3 ATP4A ATP12A
22 hemangioma of intra-abdominal structure 10.3 ATP4A ATP12A
23 acquired gastric outlet stenosis 10.3 ATP4A ATP12A
24 lingual goiter 10.3 ATP4A ATP12A
25 bacterial esophagitis 10.3 ATP4A ATP12A
26 cascade stomach 10.3 ATP4A ATP12A
27 benzylpenicillin allergy 10.3 ATP4A ATP12A
28 median arcuate ligament syndrome 10.3 ATP4A ATP12A
29 cervix erosion 10.3 ATP4A ATP12A
30 angiodysplasia of intestine 10.3 ATP4A ATP12A
31 angiodysplasia 10.3 ATP4A ATP12A
32 laryngeal tuberculosis 10.3 ATP4A ATP12A
33 fungal esophagitis 10.3 ATP4A ATP12A
34 dieulafoy lesion 10.3 ATP4A ATP12A
35 esophagus melanoma 10.3 ATP4A ATP12A
36 cefuroxime allergy 10.3 ATP4A ATP12A
37 emphysematous cholecystitis 10.3 ATP4A ATP12A
38 superior mesenteric artery syndrome 10.3 ATP4A ATP12A
39 pneumatosis cystoides intestinalis 10.3 ATP4A ATP12A
40 postgastrectomy syndrome 10.3 GAST ATP12A
41 chronic laryngitis 10.3 ATP4A ATP12A
42 gastroduodenal crohn's disease 10.3 ATP4A ATP12A
43 splenic abscess 10.3 ATP12A ALB
44 central nervous system origin vertigo 10.3 ATP4A ATP12A
45 rumination disorder 10.3 ATP4A ATP12A
46 internal hemorrhoid 10.3 ATP4A ATP12A
47 acute laryngitis 10.3 ATP4A ATP12A
48 barbiturate abuse 10.2 ATP4A ATP12A
49 gastric dilatation 10.2 ATP4A ATP12A
50 gastric fundus cancer 10.2 GAST ALB

Comorbidity relations with Gastritis, Familial Giant Hypertrophic via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Esophagitis

Graphical network of the top 20 diseases related to Gastritis, Familial Giant Hypertrophic:



Diseases related to Gastritis, Familial Giant Hypertrophic

Symptoms & Phenotypes for Gastritis, Familial Giant Hypertrophic

Human phenotypes related to Gastritis, Familial Giant Hypertrophic:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 giant hypertrophic gastritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005246
2 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
3 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
4 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
5 hypoalbuminemia 58 31 frequent (33%) Frequent (79-30%) HP:0003073
6 hypoproteinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003075
7 peripheral edema 58 31 frequent (33%) Frequent (79-30%) HP:0012398
8 malnutrition 58 31 frequent (33%) Frequent (79-30%) HP:0004395
9 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
10 helicobacter pylori infection 58 31 frequent (33%) Frequent (79-30%) HP:0005202
11 asthenia 58 31 frequent (33%) Frequent (79-30%) HP:0025406
12 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
13 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
14 multiple gastric polyps 58 31 occasional (7.5%) Occasional (29-5%) HP:0004394
15 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
16 stomach cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0012126
17 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
18 poor appetite 58 31 occasional (7.5%) Occasional (29-5%) HP:0004396
19 hypochromic microcytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004840
20 thromboembolism 58 31 very rare (1%) Very rare (<4-1%) HP:0001907
21 abnormality of the gastric mucosa 58 Very frequent (99-80%)
22 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
anemia

Laboratory Abnormalities:
hypoproteinemia
hypochlorhydria

Abdomen:
abdominal pain

Abdomen Gastrointestinal:
giant hypertrophic gastritis
enlarged gastric mucosal folds
gastric glandular proliferation with nuclear polarity preservation and cystic dilatation of gland base

Clinical features from OMIM®:

137280 (Updated 05-Apr-2021)

UMLS symptoms related to Gastritis, Familial Giant Hypertrophic:


dyspepsia

MGI Mouse Phenotypes related to Gastritis, Familial Giant Hypertrophic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.17 ALB ATP12A ATP4A BARX1 GAST TFF2

Drugs & Therapeutics for Gastritis, Familial Giant Hypertrophic

Drugs for Gastritis, Familial Giant Hypertrophic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
2 Antineoplastic Agents, Immunological Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Ménétrier's Disease With EGF Receptor Blockade Completed NCT00477880 Phase 1

Search NIH Clinical Center for Gastritis, Familial Giant Hypertrophic

Cochrane evidence based reviews: gastritis, hypertrophic

Genetic Tests for Gastritis, Familial Giant Hypertrophic

Anatomical Context for Gastritis, Familial Giant Hypertrophic

Publications for Gastritis, Familial Giant Hypertrophic

Articles related to Gastritis, Familial Giant Hypertrophic:

(show all 44)
# Title Authors PMID Year
1
Menetrier disease in a child of a consanguineous union. 61 57
8123171 1993
2
Ménétrier disease and gastrointestinal stromal tumors: hyperproliferative disorders of the stomach. 57
17200708 2007
3
Normal cations and abnormal membrane lipids in the red blood cells of dogs with familial stomatocytosis-hypertrophic gastritis. 57
8043871 1994
4
Familial giant hypertrophic gastritis (Ménétrier's disease). 57
3322957 1987
5
Pachydermoperiostosis, hypertrophic gastropathy, and peptic ulcer. 57
6825994 1983
6
Menetrier disease and Cytomegalovirus infection in paediatric age: report of three cases and a review of the literature. 61
32803424 2021
7
Unusual case of adult familial Menetrier disease in siblings. 61
31645399 2019
8
Cytomegalovirus-Associated Menetrier Disease in Childhood. 61
27380791 2017
9
[MENETRIER DISEASE]. 61
26155704 2015
10
Menetrier disease in childhood: a reparative phenomenon. 61
23444269 2013
11
Invasive pneumococcal infection secondary to hypogammaglobulinemia due to Menetrier disease. 61
23838661 2013
12
[Early gastric adenocarcinoma]. 61
20415204 2010
13
CCR7 deficiency causes ectopic lymphoid neogenesis and disturbed mucosal tissue integrity. 61
17018859 2007
14
[Menetrier disease and ulcerative colitis--an unusual association]. 61
17075461 2006
15
Involvement of cyclooxygenase-2 in gastric mucosal hypertrophy in gastrin transgenic mice. 54
16254046 2006
16
Giant fold gastritis with consecutive gastric carcinoma in a patient with peutz-jeghers syndrome. 61
16001347 2005
17
Evidence for repatterning of the gastric fundic epithelium associated with Ménétrier's disease and TGFalpha overexpression. 54
15887112 2005
18
Pathologic quiz case. Edema and diarrhea in a 2-year-old boy. Menetrier disease with cytomegalovirus gastritis. 61
15338547 2004
19
Menetrier disease of early infancy: a separate entity? 61
15269624 2004
20
Menetrier disease. 61
14960509 2004
21
Foveolar hyperplasia secondary to cow's milk protein hypersensitivity presenting with clinical features of pyloric stenosis. 61
14694404 2004
22
Image of the month. Menetrier disease with premalignant transformation. 61
12360455 2002
23
[Menetrier disease of the child: a case report]. 61
11677463 2001
24
Marked gastric foveolar hyperplasia associated with active cytomegalovirus infection. 54
11197257 2001
25
Gastric sarcoidosis. 61
9107643 1997
26
[Menetrier disease associated with ulcerative colitis. Response to the treatment with octreotide. Review of the diagnostic criteria and etiopathogenesis]. 61
9280610 1997
27
Ménétrier disease of childhood: role of cytomegalovirus and transforming growth factor alpha. 54
8636814 1996
28
Immunolocalization of transforming growth factor-alpha in normal and diseased human gastric mucosa. 54
8522306 1995
29
Roles for transforming growth factor-alpha in the stomach. 54
8774988 1995
30
[A case of Menetrier disease]. 61
7716944 1994
31
Transforming growth factor alpha in Ménétrier's disease. 54
8229556 1993
32
Possible role of transforming growth factor alpha in the pathogenesis of Ménétrier's disease: supportive evidence form humans and transgenic mice. 54
1451986 1992
33
Roles for transforming growth factor-alpha in gastric physiology and pathophysiology. 54
1341072 1992
34
Hypertrophic gastropathy resembling Ménétrier's disease in transgenic mice overexpressing transforming growth factor alpha in the stomach. 54
1522224 1992
35
[Menetrier disease. Clinico-pathologic study of a case]. 61
2761753 1989
36
[Menetrier disease. Clinicotherapeutic considerations: apropos of a case]. 61
3291021 1988
37
[Menetrier disease simulating pyloric stenosis and gastric bezoar]. 61
3682624 1987
38
Home parenteral nutrition in a child with Menetrier disease. 61
3082640 1986
39
[Menetrier disease in children]. 61
3909092 1985
40
[Endoscopic macrobiopsy in the diagnosis of Menetrier disease]. 61
6535205 1984
41
[Menetrier disease]. 61
6322248 1983
42
[Clinical and morphological aspects of Menetrier disease or gastritis hypertrophica gigantea (GHG)]. 61
6613128 1983
43
Radiological case of the month: Menetrier disease. 61
1266827 1976
44
[Clinical contribution on Balzer-Menetrier disease in Erytrean subjects]. 61
13901725 1962

Variations for Gastritis, Familial Giant Hypertrophic

Expression for Gastritis, Familial Giant Hypertrophic

Search GEO for disease gene expression data for Gastritis, Familial Giant Hypertrophic.

Pathways for Gastritis, Familial Giant Hypertrophic

Pathways related to Gastritis, Familial Giant Hypertrophic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.8 MUC6 GAST
2 9.32 GAST ATP4A

GO Terms for Gastritis, Familial Giant Hypertrophic

Cellular components related to Gastritis, Familial Giant Hypertrophic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 TGFA TFF2 SERPINA1 MUC6 GAST ATP4A

Biological processes related to Gastritis, Familial Giant Hypertrophic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular sodium ion homeostasis GO:0006883 9.37 ATP4A ATP12A
2 maintenance of gastrointestinal epithelium GO:0030277 9.32 TFF2 MUC6
3 sodium ion export across plasma membrane GO:0036376 9.26 ATP4A ATP12A
4 cellular potassium ion homeostasis GO:0030007 9.16 ATP4A ATP12A
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 8.96 ATP4A ATP12A
6 digestive system development GO:0055123 8.62 HIP1R BARX1

Molecular functions related to Gastritis, Familial Giant Hypertrophic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP4A ATP12A
2 potassium-transporting ATPase activity GO:0008556 8.96 ATP4A ATP12A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

Sources for Gastritis, Familial Giant Hypertrophic

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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