MCID: GST095
MIFTS: 29

Gastritis, Familial Giant Hypertrophic

Categories: Rare diseases, Gastrointestinal diseases, Genetic 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
Orphanet 59 ORPHA2494
UMLS via Orphanet 74 C0017155 C2936660
ICD10 via Orphanet 34 K29.6
MedGen 42 C2936660
SNOMED-CT via HPO 69 258211005 8900005

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 non-hypoproteinemic hypertrophic gastropathy and gastrointestinal stromal tumor, and has symptoms including dyspepsia An important gene associated with Gastritis, Familial Giant Hypertrophic is MIB2 (Mindbomb E3 Ubiquitin Protein Ligase 2), and among its related pathways/superpathways is Transport of vitamins, nucleosides, and related molecules. The drug Cetuximab has been mentioned in the context of this disorder. 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:

# Related Disease Score Top Affiliating Genes
1 non-hypoproteinemic hypertrophic gastropathy 12.2
2 gastrointestinal stromal tumor 11.0
3 mucositis 10.0
4 protein-losing enteropathy 9.9
5 gastritis 9.8
6 lymphocytic gastritis 9.7
7 acroosteolysis 9.1 ALB SLCO2A1
8 aleutian mink disease 9.0 ALB PHYH

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

Laboratory Abnormalities:
hypochlorhydria
hypoproteinemia


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

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cetuximab in Treating Patients With Ménétrier Disease at High Risk of Developing Stomach Cancer 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:

# Title Authors Year
1
Canine giant hypertrophic gastritis treated successfully with partial gastrectomy. ( 24216500 )
2014

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

GO Terms for Gastritis, Familial Giant Hypertrophic

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

# Name GO ID Score Top Affiliating Genes
1 sodium-independent organic anion transport GO:0043252 8.62 ALB SLCO2A1

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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