MCID: GST095
MIFTS: 27

Gastritis, Familial Giant Hypertrophic malady

Categories: Rare diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Gastritis, Familial Giant Hypertrophic

Aliases & Descriptions for Gastritis, Familial Giant Hypertrophic:

Name: Gastritis, Familial Giant Hypertrophic 54 69
Menetrier Disease 12 50 52
Giant Hypertrophic Gastritis 50 56
Gastric Mucosal Hypertrophy 12 14
Hypertrophic Gastropathy 12 50
Gastritis, Hypertrophic 42 69
Hypoproteinemic Hypertrophic Gastropathy 56
Giant Hypertrophy of the Gastric Mucosa 50
Familial Giant Hypertrophic Gastritis 12
Giant Rugal Hypertrophy of Stomach 12
Gastroenteropathy, Protein Losing 50
Giant Hypertrophic Gastropathy 50
Hypertrophic Gastritis 12
Ménétrier Disease 56

Characteristics:

Orphanet epidemiological data:

56
ménétrier disease
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly;

Classifications:



External Ids:

OMIM 54 137280
Disease Ontology 12 DOID:8757
ICD10 33 K29.6
ICD9CM 35 535.2
MeSH 42 D005758
NCIt 47 C67277
Orphanet 56 ORPHA2494
UMLS via Orphanet 70 C0017155
ICD10 via Orphanet 34 K29.6
UMLS 69 C0017155

Summaries for Gastritis, Familial Giant Hypertrophic

NIH Rare Diseases : 50 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. last updated: 6/1/2016

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 hypoproteinemia, giant hypertrophic gastritis and dyspepsia. An important gene associated with Gastritis, Familial Giant Hypertrophic is BARX1 (BARX Homeobox 1), 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. The drug Cetuximab has been mentioned in the context of this disorder. Related phenotype is Increased shRNA abundance (Z-score > 2).

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:

id Related Disease Score Top Affiliating Genes
1 non-hypoproteinemic hypertrophic gastropathy 12.0
2 gastrointestinal stromal tumor 10.9
3 mucositis 9.9
4 protein-losing enteropathy 9.8
5 porencephaly, cerebellar hypoplasia, and internal malformations 9.8 ALB BMPR1A
6 inner ear disease 9.8 ALB PHYH
7 gastritis 9.7
8 temporal arteritis 9.2 ALB BARX1 BMPR1A PHYH SLCO2A1

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 by clinical synopsis from OMIM:

137280

Clinical features from OMIM:

137280

Human phenotypes related to Gastritis, Familial Giant Hypertrophic:

32
id 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.4 SLCO2A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.4 BMPR1A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.4 SLCO2A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.4 BMPR1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.4 BMPR1A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.4 SLCO2A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 SLCO2A1 BMPR1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.4 BMPR1A SLCO2A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 BMPR1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.4 BMPR1A

Drugs & Therapeutics for Gastritis, Familial Giant Hypertrophic

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 1 205923-56-4 56842117 2333

Interventional clinical trials:


id Name Status NCT ID Phase
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

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

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

id Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 8.96 BARX1 BMPR1A
2 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....