ORPHA:99976
Adenocarcinoma of the oesophagus and oesophagogastric junction
Synonyms: Adenocarcinoma of the esophagus and the gastroesophageal junction · Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC) affecting the glandular cells of the lower esophagus at the junction with the stomach.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adenocarcinoma of the oesophagus and oesophagogastric junction | Adenocarcinoma of the esophagus and the gastroesophageal junction · Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction |
| fr | Adénocarcinome de l'oesophage et de la jonction oesogastrique | |
| de | Adenokarzinom der Speiseröhre und des ösophago-gastralen Übergangs | Adenokarzinom des Ösophagus und des gastroösophagealen Übergangs |
| es | Adenocarcinoma de esófago y de la unión esofagogástrica | Adenocarcinoma esofágico y adenocarcinoma de la unión esofagogástrica |
| it | Adenocarcinoma dell'esofago e della giunzione esofago-gastrica | Adenocarcinoma dell'esofago e della giunzione gastroesofagea · Adenocarcinoma esofageo e adenocarcinoma della giunzione esofago-gastrica |
| nl | Adenocarcinoom van oesofagus en oesofagogastrische overgang | Oesofageaal adenocarcinoom en adenocarcinoom van oesofagogastrische overgang · Adenocarcinoom van slokdarm en gastro-oesofageale overgang |
| pt | Adenocarcinoma do esófago | Adenocarcinoma esofágico |
| pl | Gruczolakorak przełyku | Gruczolakorak przełyku i połączenia przełykowo-żołądkowego |
| cs | Adenokarcinom jícnu | Ezofageální adenokarcinom |
| uk | Аденокарцинома стравоходу | Аденокарцинома стравоходу |
| zh | 食道腺癌 | 食管腺癌 |
| tr | Yemek borusu adenokarsinomu | Özofageal adenokarsinom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614266 | NTBT | validated | |
| ICD-10 | C15.2 | BTNT | attributed | validated |
| ICD-10 | C15.5 | BTNT | attributed | validated |
| ICD-11 | 2B70.0 | E | specific | validated |
| MONDO | 0005028 | E | validated | |
| MeSH | C562730 | E | validated | |
| UMLS | C0279628 | E | validated | |
| MedDRA | 10030137 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:70482Carcinoma of esophagus
rare gastroenterological diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERBB2 | Biomarker tested in | Assessed | HGNC:3430 | ENSG00000141736 | 164870 | 17q12 | erb-b2 receptor tyrosine kinase 2 | 27468182[PMID] |
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Prevalence and incidence
28 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3.264 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | 22033323[PMID]_[EXPERT]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Lifetime Prevalence | 1-9 / 100 000 | 5.55 / 100 000 | Europe | Value and class | Validated | 22033323[PMID]_[EXPERT]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.7 / 100 000 | Worldwide | Value and class | Validated | 25320104[PMID]_WHO World Health Organization (GLOBOCAN 2012)[OTHER] |
| Annual incidence | 1-9 / 100 000 | 6.592 / 100 000 | United Kingdom | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.848 / 100 000 | Norway | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.178 / 100 000 | Spain | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.485 / 100 000 | Croatia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.28 / 100 000 | Czech Republic | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.305 / 100 000 | Estonia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.5 / 100 000 | Finland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.681 / 100 000 | France | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.636 / 100 000 | Germany | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.471 / 100 000 | Iceland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.736 / 100 000 | Ireland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.947 / 100 000 | Italy | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.39 / 100 000 | Latvia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.235 / 100 000 | Austria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.918 / 100 000 | Belgium | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.364 / 100 000 | Bulgaria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.526 / 100 000 | Lithuania | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.319 / 100 000 | Malta | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.315 / 100 000 | Poland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.829 / 100 000 | Portugal | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.578 / 100 000 | Slovakia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.651 / 100 000 | Slovenia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.612 / 100 000 | Switzerland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 5.196 / 100 000 | Netherlands | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100580 | Barrett esophagus | |
| HP:0001864 | Clinodactyly of the 5th toe | |
| HP:0011459 | Esophageal carcinoma | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001513 | Obesity | |
| Frequent (79-30%) | ||
| HP:0100749 | Chest pain | |
| HP:0012735 | Cough | |
| HP:0002017 | Nausea and vomiting | |
| Occasional (29-5%) | ||
| HP:0002716 | Lymphadenopathy | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99976
- This record as JSON: /data/d/99976.json