ORPHA:2494

Ménétrier disease

Synonyms: Giant hypertrophic gastritis · Hypoproteinemic hypertrophic gastropathy

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Not applicable, Unknown
Age of onset: Adolescent, Adult, Childhood
Status: active

Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Ménétrier disease	Giant hypertrophic gastritis · Hypoproteinemic hypertrophic gastropathy
fr	Maladie de Ménétrier	Gastrite hypertrophique avec hypoprotéinémie · Gastrite hypertrophique avec perte de protéines · Gastrite hypertrophique géante
de	Ménétrier-Syndrom	Hypoproteinämische hypertrophe Gastropathie · Ménétrier-Krankheit · Riesenfaltengastritis
es	Enfermedad de Ménétrier	Gastropatía hipertrófica hipoproteinémica · Gastritis hipertrófica gigante
it	Malattia di Menetrier	Gastrite ipertrofica gigante · Gastropatia ipertrofica ipoproteinemica
nl	Ziekte van Ménétrier	Gigantisch-hypertrofische gastritis · Hypoproteïnemische hypertrofische gastropathie · Reuze hypertrofische gastritis
pt	Doença de Menetrier	Gastrite hipertrófica gigante
pl	Choroba Ménétrier	Olbrzymie przerostowe zapalenie żołądka · Gastropatia przerostowa z utratą białka
cs	Ménétrierova nemoc	Hypertrofická gastritida · Hypertrofická gastropatie
uk	Хвороба Меньєра	Гігантський гіпертрофічний гастрит · Гіпопротеїнемічна гіпертрофічна гастропатія
zh	Menetrier病	低蛋白血症性肥厚性胃病
tr	Ménétrier hastalığı	Dev hipertrofik gastrit · Hipoproteinemik hipertrofik gastropati

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	137280	E		validated
ICD-10	K29.6	NTBT	attributed	validated
ICD-11	DA42.6	E	specific	validated
MONDO	0007652	E		validated
UMLS	C0017155	E		validated
GARD	2436	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97935Rare gastroenterologic disease

Parents in the classifications (1):

ORPHA:101936Rare gastroesophageal disease
rare gastroenterological diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

21 annotations · validated 2019-04-04

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0004295	Abnormality of the gastric mucosa
HP:0005246	Giant hypertrophic gastritis
Frequent (79-30%)
HP:0002027	Abdominal pain
HP:0025406	Asthenia
HP:0005202	Helicobacter pylori infection
HP:0003073	Hypoalbuminemia
HP:0003075	Hypoproteinemia
HP:0004395	Malnutrition
HP:0002018	Nausea
HP:0012398	Peripheral edema
HP:0002013	Vomiting
HP:0001824	Weight loss
Occasional (29-5%)
HP:0002039	Anorexia
HP:0002014	Diarrhea
HP:0002020	Gastroesophageal reflux
HP:0002239	Gastrointestinal hemorrhage
HP:0004840	Hypochromic microcytic anemia
HP:0004394	Multiple gastric polyps
HP:0004396	Poor appetite
HP:0012126	Stomach cancer
Very rare (<4-1%)
HP:0001907	Thromboembolism

Run the differential on the 2 obligate / very frequent terms

Annotation source: 20926644[PMID]_23303980[PMID]_29027113[PMID]_24959292[PMID]_26689786[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/2494
This record as JSON: /data/d/2494.json