Gastric adenocarcinoma and proximal polyposis of the stomach
Synonyms: Familial fundic gland polyposis with gastric cancer · GAPPS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gastric adenocarcinoma and proximal polyposis of the stomach | Familial fundic gland polyposis with gastric cancer · GAPPS |
| fr | Adénocarcinome gastrique et polypose proximale de l'estomac | GAPPS · Polypose familiale des glandes fundiques avec cancer gastrique |
| de | Gastrisches Adenokarzinom und proximale Polyposis des Magens | Familiäre Drüsenkörperzysten mit Magenkarzinom · GAPPS-Syndrom |
| es | Adenocarcinoma gástrico y poliposis proximal del estómago | GAPPS · Poliposis familiar de glándulas fúndicas con cáncer gástrico |
| it | Adenocarcinoma gastrico con poliposi prossimale dello stomaco | GAPPS · Poliposi familiare delle ghiandole fundiche con cancro gastrico |
| nl | Gastrisch adenocarcinoom en proximale polyposis van maag | Familiale polyposis van fundusklieren met maagkanker · GAPPS |
| pt | Adenocarcinoma gástrico e polipose proximal do estômago | GAPPS · Polipose familiar da glândula fúndica com cancro gástrico |
| pl | Gruczolakorak żołądka i proksymalna polipowatość żołądka | GAPPS |
| cs | Adenokarcinom a proximální polypóza žaludku | Familiární polypóza žlázek fundu s karcinomem žaludku · GAPPS |
| uk | Аденокарцинома шлунка та проксимальний поліпоз шлунка | Сімейний поліпоз фундальної залози з раком шлунка · GAPPS |
| zh | 胃腺癌和胃近端息肉 | 家族性基底腺息肉伴胃癌 |
| tr | Mide adenokarsinomu ve midenin proksimal polipozu | GAPPS · Mide kanseri ile seyreden ailesel fundik bezi polipozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619182 | E | validated | |
| ICD-10 | C16.9 | NTBT | attributed | validated |
| ICD-11 | 2B72.0 | NTBT | attributed | validated |
| MONDO | 0017790 | E | validated | |
| UMLS | C1868001 | 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):
Parents in the classifications (2):
- ORPHA:423776Hereditary gastric cancer
rare gastroenterological diseases; rare neoplastic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APC | Disease-causing germline mutation(s) in | Assessed | HGNC:583 | ENSG00000134982 | 611731 | 5q22.2 | APC regulator of Wnt signaling pathway | 27087319[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 21813476[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314022
- This record as JSON: /data/d/314022.json