Esophageal 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 cancer
Number of Symptoms 15
OrphanetNr: 70482
OMIM Id: 133239
ICD-10: C15
UMLs: C0152018
MeSH:
MedDRA: 10030155
Snomed: 372138000

Prevalence, inheritance and age of onset:

Prevalence: 12.2 of 100 000 [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Gastro-esophageal tumor
 -Rare gastroenterologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000464) Abnormality of the neck Frequent [Orphanet] 31 / 7739
2
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
3
 (HPO:0100749) Chest pain Frequent [Orphanet] 92 / 7739
4
 (HPO:0100580) Barrett esophagus Occasional [Orphanet] 4 / 7739
5
 (HPO:0100247) Recurrent singultus Frequent [Orphanet] 7 / 7739
6
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
7
 (HPO:0100751) Esophageal neoplasm Very frequent [Orphanet] 8 / 7739
8
 (HPO:0002250) Abnormality of the large intestine Occasional [Orphanet] 32 / 7739
9
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
10
 (HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
11
 (HPO:0002860) Squamous cell carcinoma 18 / 7739
12
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
13
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 ([DEL]MedDRA:10011224) Cough Frequent [Orphanet] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...