MCID: GST095
MIFTS: 39

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 73
Menetrier Disease 57 12 53 55
Giant Hypertrophic Gastritis 53 59
Gastric Mucosal Hypertrophy 12 15
Hypertrophic Gastropathy 12 53
Gastritis, Hypertrophic 44 73
Hypoproteinemic Hypertrophic Gastropathy 59
Giant Hypertrophy of the Gastric Mucosa 53
Familial Giant Hypertrophic Gastritis 12
Giant Rugal Hypertrophy of Stomach 12
Gastroenteropathy, Protein Losing 53
Giant Hypertrophic Gastropathy 53
Hypertrophic Gastritis 12
Menetrier's Disease 76
Ménétrier Disease 59

Characteristics:

Orphanet epidemiological data:

59
ménétrier disease
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
gastritis, familial giant hypertrophic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 137280
Disease Ontology 12 DOID:8757
ICD10 33 K29.6
ICD9CM 35 535.2
MeSH 44 D005758
NCIt 50 C67277
SNOMED-CT 68 60002000
Orphanet 59 ORPHA2494
UMLS via Orphanet 74 C0017155 C2936660
ICD10 via Orphanet 34 K29.6
MedGen 42 C2936660

Summaries for Gastritis, Familial Giant Hypertrophic

NIH Rare Diseases : 53 Ménétrier 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 Ménétrier 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 protein-losing enteropathy and non-hypoproteinemic hypertrophic gastropathy, and has symptoms including dyspepsia An important gene associated with Gastritis, Familial Giant Hypertrophic is SLCO2A1 (Solute Carrier Organic Anion Transporter Family Member 2A1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Transport of vitamins, nucleosides, and related molecules. Affiliated tissues include skin, liver and colon, and related phenotypes are hypoproteinemia and giant hypertrophic gastritis

Wikipedia : 76 Ménétrier disease (also known as hypoproteinemic hypertrophic gastropathy; named after a French... more...

Description 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 all 40)
# Related Disease Score Top Affiliating Genes
1 protein-losing enteropathy 29.8 SERPINA1 ALB
2 non-hypoproteinemic hypertrophic gastropathy 12.3
3 gastrointestinal stromal tumor 11.1
4 ulcerative colitis 10.2
5 colitis 10.2
6 acroosteolysis 10.0 SLCO2A1 ALB
7 atrophic gastritis 10.0
8 hernia, hiatus 10.0
9 human venous malformation 10.0
10 primary hypertrophic osteoarthropathy 10.0
11 adenocarcinoma 10.0
12 gastric adenocarcinoma 10.0
13 lymphocytic gastritis 10.0
14 granulomatous gastritis 10.0
15 cytomegalovirus infection 9.9
16 diarrhea 9.9
17 agammaglobulinemia 9.9
18 gastritis 9.9
19 autoimmune gastritis 9.9
20 constrictive pericarditis 9.9 SERPINA1 ALB
21 hepatic tuberculosis 9.9 SERPINA1 ALB
22 polyposis, gastric 9.9
23 zollinger-ellison syndrome 9.9
24 pyloric stenosis 9.9
25 plasmacytoma 9.9
26 linitis plastica 9.9
27 carcinoid syndrome 9.9
28 endodermal sinus tumor 9.9 SERPINA1 ALB
29 polyposis, skin pigmentation, alopecia, and fingernail changes 9.9 SERPINA1 ALB
30 blind loop syndrome 9.8 SERPINA1 ALB
31 transient arthritis 9.8 SERPINA1 ALB
32 hennekam syndrome 9.8 SERPINA1 ALB
33 alpha-1-antitrypsin deficiency 9.8 SERPINA1 ALB
34 testicular yolk sac tumor 9.8 SERPINA1 ALB
35 bronchitis 9.8 SERPINA1 ALB
36 viral hepatitis 9.8 SERPINA1 ALB
37 respiratory system disease 9.8 SERPINA1 ALB
38 respiratory failure 9.8 SERPINA1 ALB
39 gastrointestinal system disease 9.7 SERPINA1 ALB
40 liver cirrhosis 9.6 SERPINA1 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

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypoproteinemia
hypochlorhydria

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

Human phenotypes related to Gastritis, Familial Giant Hypertrophic:

32
# Description HPO Frequency HPO Source Accession
1 hypoproteinemia 32 HP:0003075
2 giant hypertrophic gastritis 32 HP:0005246
3 dilatation 32 HP:0002617

UMLS symptoms related to Gastritis, Familial Giant Hypertrophic:


dyspepsia

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.47 SLCO2A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.47 MIB2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.47 MIB2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.47 MIB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.47 SLCO2A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.47 SLCO2A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.47 SLCO2A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.47 MIB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.47 MIB2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.47 MIB2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.47 MIB2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.47 MIB2 SLCO2A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.47 MIB2

Drugs & Therapeutics for Gastritis, Familial Giant Hypertrophic

Search Clinical Trials , 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

MalaCards organs/tissues related to Gastritis, Familial Giant Hypertrophic:

41
Skin, Liver, Colon

Publications for Gastritis, Familial Giant Hypertrophic

Articles related to Gastritis, Familial Giant Hypertrophic:

(show all 31)
# Title Authors Year
1
Cytomegalovirus-Associated Menetrier Disease in Childhood. ( 27380791 )
2017
2
FDG PET/CT Findings of Ménétrier Disease. ( 26825202 )
2016
3
Ménétrier disease manifested by polyposis and involved in both the small bowel and entire colon: A Case Report. ( 27603362 )
2016
4
Ménétrier Disease and Ulcerative Colitis. ( 26084007 )
2015
5
Illustration of protein loss from the stomach by using SPECT/CT: a case of Ménétrier disease. ( 24662651 )
2014
6
Case 189: Pediatric Ménétrier disease. ( 23264528 )
2013
7
Menetrier disease in childhood: a reparative phenomenon. ( 23444269 )
2013
8
Invasive pneumococcal infection secondary to hypogammaglobulinemia due to Menetrier disease. ( 23838661 )
2013
9
Ménétrier disease and gastric adenocarcinoma in 3 Cairn terrier littermates. ( 22411550 )
2012
10
A case of Ménétrier disease in a child. ( 22391924 )
2012
11
Case of pediatric Ménétrier disease with cytomegalovirus and Helicobacter pylori co-infection. ( 20958864 )
2010
12
The Association of Ménétrier Disease with Ulcerative Colitis: A Case Report with Implications on the Pathogenesis of Ménétrier Disease. ( 21103230 )
2010
13
Ménétrier disease. ( 19168850 )
2009
14
Quest for the diagnosis. Case 2: abdominal discomfort and generalized oedema in a 6-year-old boy. Ranitidine-resistant Ménétrier disease. ( 18254916 )
2008
15
The edematous toddler: a case of pediatric Ménétrier disease. ( 19240670 )
2008
16
Cytomegalovirus and Helicobacter pylori co-infection in a child with Ménétrier disease. ( 16858581 )
2007
17
Contrast-enhanced ultrasonographic assessment of the response of Ménétrier disease to Helicobacter pylori eradication therapy. ( 16870907 )
2006
18
Pathologic quiz case: a 39-year-old woman with nausea, vomiting, diarrhea, and weight loss. Ménétrier disease. ( 15737045 )
2005
19
Menetrier disease. ( 14960509 )
2004
20
Menetrier disease of early infancy: a separate entity? ( 15269624 )
2004
21
Pathologic quiz case. Edema and diarrhea in a 2-year-old boy. Menetrier disease with cytomegalovirus gastritis. ( 15338547 )
2004
22
Image of the month. Menetrier disease with premalignant transformation. ( 12360455 )
2002
23
Role of cytomegalovirus in Ménétrier disease in children. ( 9108878 )
1997
24
Menetrier disease in a child of a consanguineous union. ( 8123171 )
1993
25
Ménétrier disease. ( 1727360 )
1992
26
Ménétrier disease in a child. ( 2072238 )
1991
27
Ménétrier disease in a child of 18 months: diagnosis by ultrasonography. ( 3292252 )
1988
28
Home parenteral nutrition in a child with Menetrier disease. ( 3082640 )
1986
29
Radiological case of the month: Menetrier disease. ( 1266827 )
1976
30
Letter: Ménétrier disease. ( 4366247 )
1974
31
Ménétrier disease and cytomegalovirus infection in childhood. ( 4357211 )
1973

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

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 platelet alpha granule lumen GO:0031093 8.62 ALB SERPINA1

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

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 8.62 ALB SERPINA1

Sources for Gastritis, Familial Giant Hypertrophic

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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