Esophageal squamous cell carcinoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO, INCLUDED ESCC, SUSCEPTIBILITY TO, INCLUDED GASTRIC CARDIA ADENOCARCINOMA, SUSCEPTIBILITY TO, INCLUDED Esophageal epidermoid carcinoma |
| Number of Symptoms | 8 |
| OrphanetNr: | 99977 |
| OMIM Id: |
133239
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| ICD-10: |
C15 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Esophageal carcinoma
-Rare gastroenterologic disease -Rare oncologic disease |
Symptom Information:
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(HPO:0002015) | Dysphagia | Very frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0100749) | Chest pain | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0100751) | Esophageal neoplasm | Very frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Frequent [Orphanet] | 134 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001608) | Abnormality of the voice | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0002716) | Lymphadenopathy | Occasional [Orphanet] | 129 / 7739 | |||
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([DEL]MedDRA:10011224) | Cough | Frequent [Orphanet] | 70 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, ... |
| Molecular genetics OMIM |
- Somatic Mutations Using a panel of 56 pairs of ESCC primary tumors and their matched normal DNAs, Li et al. (2001) refined an LOH locus to chromosome 13q12.11. Lo et al. (2002) screened for mutations ... |