ORPHA:99977
Squamous cell carcinoma of the esophagus
Synonyms: ESCC · Esophageal epidermoid carcinoma · Esophageal squamous cell carcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Squamous cell carcinoma of the esophagus | ESCC · Esophageal epidermoid carcinoma · Esophageal squamous cell carcinoma |
| fr | Carcinome épidermoïde de l'oesophage | |
| de | Plattenepithelkarzinom des Ösophagus | ESCC · Karzinom, oesophageales squamöses · Ösophageales Plattenepithelkarzinom |
| es | Carcinoma de células escamosas de esófago | Carcinoma esofágico de células escamosas · Carcinoma esofágico epidermoide · ESCC |
| it | Carcinoma a cellule squamose dell'esofago | Carcinoma epidermoide esofageo · Carcinoma esofageo a cellule squamose · ESCC |
| nl | Plaveiselcelcarcinoom van oesofagus | ESCC · Oesofageaal epidermoïd carcinoom · Oesofageaal plaveiselcelcarcinoom · Plaveiselcelcarcinoom van slokdarm |
| pt | Carcinoma de células escamosas esofágicas | |
| pl | Rak płaskonabłonkowy przełyku | ESCC · Rak nabłonkowy przełyku |
| cs | Dlaždicobuněčný karcinom jícnu | ESCC · Epidermoidní karcinom jícnu |
| uk | Плоскоклітинний рак стравоходу | ESCC · Епідермоїдна карцинома стравоходу · Плоскоклітинний рак стравоходу |
| zh | 食道鳞状细胞癌 | 食管鳞状细胞癌 |
| tr | Yemek borusunun skuamöz hücre karsinomu | ESCC · Özofageal epidermoid karsinom · Özofageal skuamöz hücreli karsinom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133239 | NTBT | validated | |
| ICD-10 | C15.0 | BTNT | attributed | validated |
| ICD-10 | C15.1 | BTNT | attributed | validated |
| ICD-10 | C15.3 | BTNT | attributed | validated |
| ICD-10 | C15.4 | BTNT | attributed | validated |
| ICD-11 | 2B70.1 | E | specific | validated |
| MONDO | 0005580 | E | validated | |
| UMLS | C0279626 | E | validated | |
| MedDRA | 10061534 | 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
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLEC1 | Candidate gene tested in | Not yet assessed | HGNC:2899 | ENSG00000008226 | 604050 | 3p22.2 | DLEC1 cilia and flagella associated protein | 10213508[PMID] |
| RNF6 | Candidate gene tested in | Not yet assessed | HGNC:10069 | ENSG00000127870 | 604242 | 13q12.13 | ring finger protein 6 | 12154016[PMID] |
| TGFBR2 | Candidate gene tested in | Not yet assessed | HGNC:11773 | ENSG00000163513 | 190182 | 3p24.1 | transforming growth factor beta receptor 2 | 17680270[PMID] |
| WWOX | Major susceptibility factor in | Assessed | HGNC:12799 | ENSG00000186153 | 605131 | 16q23.1-q23.2 | WW domain containing oxidoreductase | 11956080[PMID]_22213016[PMID] |
5
Prevalence and incidence
28 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3.357 / 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 | 5.42 / 100 000 | Europe | Value and class | Validated | 22033323[PMID]_[EXPERT]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 5.2 / 100 000 | Worldwide | Value and class | Validated | 25320104[PMID]_WHO World Health Organization (GLOBOCAN 2012)[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.122 / 100 000 | Estonia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.325 / 100 000 | Finland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 5.069 / 100 000 | France | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 4.172 / 100 000 | Germany | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.215 / 100 000 | Iceland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.443 / 100 000 | Ireland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.623 / 100 000 | Italy | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.896 / 100 000 | Latvia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.922 / 100 000 | Lithuania | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.256 / 100 000 | Malta | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.706 / 100 000 | Norway | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.996 / 100 000 | Poland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.734 / 100 000 | Portugal | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.866 / 100 000 | Slovakia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.234 / 100 000 | Slovenia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.544 / 100 000 | Spain | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.026 / 100 000 | Austria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.881 / 100 000 | Belgium | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.801 / 100 000 | Bulgaria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.79 / 100 000 | Croatia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.315 / 100 000 | Czech Republic | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.139 / 100 000 | Netherlands | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 4.186 / 100 000 | United Kingdom | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.778 / 100 000 | Switzerland | 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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001864 | Clinodactyly of the 5th toe | |
| HP:0011459 | Esophageal carcinoma | |
| HP:0008872 | Feeding difficulties in infancy | |
| Frequent (79-30%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0100749 | Chest pain | |
| HP:0012735 | Cough | |
| HP:0002017 | Nausea and vomiting | |
| Occasional (29-5%) | ||
| HP:0002716 | Lymphadenopathy | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99977
- This record as JSON: /data/d/99977.json