MCID: ESP027
MIFTS: 45

Esophagus Squamous Cell Carcinoma malady

Gastrointestinal diseases, Cancer diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Esophagus Squamous Cell Carcinoma

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Sources:
48Orphanet, 8Disease Ontology, 10DISEASES, 61UMLS, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Esophagus Squamous Cell Carcinoma:

Name: Esophagus Squamous Cell Carcinoma 8 10
Squamous Cell Carcinoma of Esophagus 8 61
Squamous Cell Carcinoma of the Esophagus 48
 
Esophageal Squamous Cell Carcinoma 48
Esophageal Epidermoid Carcinoma 48
Scc of Esophagus 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
squamous cell carcinoma of the esophagus:
Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology8 DOID:3748
NCIt39 C4024
SNOMED-CT56 276804009
Orphanet48 99977
ICD10 via Orphanet26 C15

Summaries for Esophagus Squamous Cell Carcinoma

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Disease Ontology:8 An esophageal carcinoma that derives from epithelial squamous cells located in the esophagus.

MalaCards based summary: Esophagus Squamous Cell Carcinoma, also known as squamous cell carcinoma of esophagus, is related to lung cancer and melanoma, and has symptoms including weight loss, feeding difficulties in infancy and esophageal neoplasm. An important gene associated with Esophagus Squamous Cell Carcinoma is TGFBR2 (transforming growth factor, beta receptor II (70/80kDa)), and among its related pathways are Apoptotic cleavage of cellular proteins and IL-2 Gene Expression in Activated and Quiescent T-Cells. The compounds crcs and b 723 have been mentioned in the context of this disorder. Affiliated tissues include the esophagus and lymph node, and related mouse phenotypes are tumorigenesis and digestive/alimentary.

Related Diseases for Esophagus Squamous Cell Carcinoma

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Graphical network of the top 20 diseases related to Esophagus Squamous Cell Carcinoma:



Diseases related to esophagus squamous cell carcinoma

Symptoms for Esophagus Squamous Cell Carcinoma

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Symptoms:

 48 (show all 8)
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • esophageal neoplasm/tumor/carcinoma/cancer
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • thoracic/chest pain
  • cough
  • abnormal cry/voice/phonation disorder/nasal speech
  • lymphadenopathy/polyadenopathies

HPO human phenotypes related to Esophagus Squamous Cell Carcinoma:

(show all 7)
id Description Frequency HPO Source Accession
1 weight loss hallmark (90%) HP:0001824
2 feeding difficulties in infancy hallmark (90%) HP:0008872
3 esophageal neoplasm hallmark (90%) HP:0100751
4 abnormality of the voice typical (50%) HP:0001608
5 nausea and vomiting typical (50%) HP:0002017
6 chest pain typical (50%) HP:0100749
7 lymphadenopathy occasional (7.5%) HP:0002716

Drugs & Therapeutics for Esophagus Squamous Cell Carcinoma

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Drug clinical trials:

Search ClinicalTrials for Esophagus Squamous Cell Carcinoma

Search NIH Clinical Center for Esophagus Squamous Cell Carcinoma

Genetic Tests for Esophagus Squamous Cell Carcinoma

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Anatomical Context for Esophagus Squamous Cell Carcinoma

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MalaCards organs/tissues related to Esophagus Squamous Cell Carcinoma:

31
Lymph node

FMA organs/tissues related to Esophagus Squamous Cell Carcinoma:

14
The esophagus

Animal Models for Esophagus Squamous Cell Carcinoma or affiliated genes

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MGI Mouse Phenotypes related to Esophagus Squamous Cell Carcinoma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1CDH1, NOTCH1, TGFB1, TGFBR2
2MP:00053819.0RUNX3, TGFBR2, TGFB1, NOTCH1, CDH1
3MP:00053889.0RUNX3, TGFBR2, TGFB1, VIM, NOTCH1
4MP:00053698.9NOTCH1, VIM, TGFB1, TGFBR2, RUNX3
5MP:00053798.9RUNX3, TGFBR2, TGFB1, NOTCH1, CDH1
6MP:00107718.9CDH1, NOTCH1, DSE, TGFB1, RUNX3
7MP:00053808.8TGFBR2, TGFB1, VIM, NOTCH1, CDH1
8MP:00053788.4CDH1, NOTCH1, VIM, DSE, TGFB1, TGFBR2
9MP:00053878.4RUNX3, TGFBR2, TGFB1, VIM, NOTCH1, CDH1
10MP:00053848.2RUNX3, TGFBR2, TGFB1, VIM, NOTCH1, CDH1

Publications for Esophagus Squamous Cell Carcinoma

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Articles related to Esophagus Squamous Cell Carcinoma:

idTitleAuthorsYear
1
Human papillomavirus types 16 and 18 in esophagus squamous cell carcinoma: a meta-analysis. (23916383)
2013
2
Notch1 is a 5-fluorouracil resistant and poor survival marker in human esophagus squamous cell carcinomas. (23409141)
2013
3
Prognostic Value of Tumor-Infiltrating Mast Cells in Outcome of Patients with Esophagus Squamous Cell Carcinoma. (24091743)
2013
4
Prediagnostic smoking and postoperative survival in lymph node-negative esophagus squamous cell carcinoma patients. (22913634)
2012
5
Retrospective study of gemcitabine based chemotherapy for unresectable or recurrent esophagus squamous cell carcinoma refractory to first line chemotherapy. (23098537)
2012
6
Dermatan sulfate is involved in the tumorigenic properties of esophagus squamous cell carcinoma. (22350411)
2012
7
Analysis of the RUNX3 gene methylation in serum DNA from esophagus squamous cell carcinoma, gastric and colorectal adenocarcinoma patients. (22234069)
2011
8
Transforming growth factor beta1 regulation of epithelial-mesenchymal transition in esophagus squamous cell carcinoma]. (19094466)
2008
9
Human papillomavirus DNA sequences in esophagus squamous cell carcinoma. (7912679)
1994

Variations for Esophagus Squamous Cell Carcinoma

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Clinvar genetic disease variations for Esophagus Squamous Cell Carcinoma:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBR2NM_003242.5(TGFBR2): c.1576G> C (p.Glu526Gln)single nucleotide variantPathogenicrs121918714GRCh37Chr 3, 30732963: 30732963

Expression for genes affiliated with Esophagus Squamous Cell Carcinoma

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Search GEO for disease gene expression data for Esophagus Squamous Cell Carcinoma.

Pathways for genes affiliated with Esophagus Squamous Cell Carcinoma

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Pathways related to Esophagus Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8CDH1, VIM
2
Show member pathways
9.8TGFB1, TGFBR2
39.8TGFBR2, TGFB1
4
Show member pathways
9.8TGFBR2, TGFB1
59.8TGFB1, TGFBR2
6
Show member pathways
9.8TGFB1, TGFBR2
79.8TGFBR2, TGFB1
89.8TGFBR2, TGFB1
9
Show member pathways
ALK1 pathway36
9.8TGFBR2, TGFB1
109.7TGFB1, NOTCH1
119.5TGFB1, RUNX3, TGFBR2
129.5TGFB1, RUNX3, TGFBR2
139.5RUNX3, TGFB1, TGFBR2
149.5TGFB1, CDH1, TGFBR2
159.5TGFBR2, TGFB1, CDH1
169.5CDH1, TGFBR2, TGFB1
17
Show member pathways
Signal transduction PTEN pathway59
9.5CDH1, TGFB1, TGFBR2
189.2VIM, RAB11A, CDH1
199.2RAB11A, TGFB1, TGFBR2
20
Show member pathways
9.1TGFBR2, NOTCH1, CDH1, TGFB1
21
Show member pathways
8.9CDH1, RAB11A, TGFB1, TGFBR2
22
Show member pathways
8.8TGFB1, CDH1, TGFBR2, VIM, NOTCH1
23
Show member pathways
8.7RPL7, TGFB1, RPL28
247.8RPL7, DSE, RPL28, NOTCH1, TGFB1, TGFBR2

Compounds for genes affiliated with Esophagus Squamous Cell Carcinoma

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Compounds related to Esophagus Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 40)
idCompoundScoreTop Affiliating Genes
1crcs4410.2TGFBR2, CDH1
2b 7234410.1VIM, CDH1
3n-(4-hydroxyphenyl)retinamide449.9TGFBR2, VIM
4methylcellulose449.9CDH1, TGFB1
5aristolochic acid44 110.8CDH1, VIM, TGFB1
6acetaldehyde28 44 2411.8VIM, CDH1
7cytochalasin d44 6010.8TGFB1, CDH1, VIM
8hyaluronic acid44 2410.8VIM, CDH1, TGFB1
9methionine449.8NOTCH1, VIM, TGFBR2
10formaldehyde44 2410.8TGFB1, VIM, CDH1
11methotrexate50 44 1111.8CDH1, TGFB1, VIM
12etoposide44 50 60 1112.7TGFB1, CDH1, VIM
13indomethacin44 28 60 1112.7CDH1, TGFB1, VIM
1412-o-tetradecanoylphorbol 13-acetate449.7TGFB1, VIM, CDH1
15sb 20358044 6010.7CDH1, TGFB1, VIM
16wortmannin449.7TGFBR2, VIM, CDH1
17butyrate449.7CDH1, TGFB1, VIM
185-aza-2deoxycytidine449.7RUNX3, CDH1, TGFBR2, VIM
19streptozotocin449.6TGFB1, VIM
20paclitaxel44 50 1111.6VIM, TGFB1, CDH1
21rapamycin449.6VIM, NOTCH1, CDH1
22histamine44 28 2411.6TGFB1, VIM, CDH1
23dihydrotestosterone44 28 24 1112.6CDH1, VIM, TGFB1, TGFBR2
24tgf beta1449.5CDH1, TGFBR2, TGFB1, VIM
25tamoxifen44 50 28 1112.5TGFB1, TGFBR2, CDH1, VIM
26vitamin d449.5TGFBR2, TGFB1, VIM, CDH1
27glutamine449.5TGFBR2, TGFB1, CDH1, VIM
28oligonucleotide449.5TGFBR2, TGFB1, VIM, RUNX3
29ly294002449.5TGFBR2, CDH1, NOTCH1, TGFB1
30actinomycin d449.5TGFB1, VIM, TGFBR2
31matrigel449.4CDH1, TGFB1, VIM, NOTCH1
32glutamate449.4CDH1, NOTCH1, TGFBR2, VIM
33doxorubicin44 50 1111.4VIM, NOTCH1, CDH1, TGFB1
34alanine449.4TGFBR2, VIM, CDH1, TGFB1
35dexamethasone44 50 28 1112.2CDH1, VIM, TGFB1, TGFBR2, NOTCH1
36glycogen44 2410.1CDH1, NOTCH1, VIM
37estrogen449.1CDH1, TGFBR2, NOTCH1, VIM, TGFB1
38vegf448.9RUNX3, TGFBR2, TGFB1, VIM, NOTCH1, CDH1
39retinoic acid44 249.9TGFBR2, TGFB1, VIM, NOTCH1, CDH1, RUNX3
40serine448.8RUNX3, TGFBR2, VIM, NOTCH1, CDH1, TGFB1

GO Terms for genes affiliated with Esophagus Squamous Cell Carcinoma

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Cellular components related to Esophagus Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolic large ribosomal subunitGO:00226259.1RPL28, RPL7

Biological processes related to Esophagus Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1common-partner SMAD protein phosphorylationGO:000718210.1TGFB1, TGFBR2
2response to cholesterolGO:007072310.1TGFBR2, TGFB1
3pathway-restricted SMAD protein phosphorylationGO:006038910.1TGFB1, TGFBR2
4myeloid dendritic cell differentiationGO:004301110.1TGFB1, TGFBR2
5digestive tract developmentGO:004856510.1TGFBR2, TGFB1
6negative regulation of cell-cell adhesionGO:002240810.0CDH1, TGFB1
7negative regulation of myoblast differentiationGO:004566210.0TGFB1, NOTCH1
8hair follicle morphogenesisGO:003106910.0NOTCH1, RUNX3
9negative regulation of ossificationGO:003027910.0TGFB1, NOTCH1
10endoderm developmentGO:00074929.9TGFB1, NOTCH1
11chondrocyte differentiationGO:00020629.9TGFB1, RUNX3
12positive regulation of epithelial to mesenchymal transitionGO:00107189.9NOTCH1, TGFB1
13epithelial to mesenchymal transitionGO:00018379.9TGFB1, NOTCH1
14negative regulation of cell cycleGO:00457869.8RUNX3, TGFB1
15negative regulation of epithelial cell proliferationGO:00506809.8CDH1, TGFB1, RUNX3
16cellular component disassembly involved in execution phase of apoptosisGO:00069219.7VIM, CDH1
17protein localization to plasma membraneGO:00726599.6CDH1, RAB11A
18organ regenerationGO:00311009.5TGFB1, TGFBR2
19protein phosphorylationGO:00064689.5TGFB1, TGFBR2, RUNX3
20response to drugGO:00424939.5CDH1, TGFB1, TGFBR2
21viral life cycleGO:00190589.0RPL28, RPL7, TGFB1

Molecular functions related to Esophagus Squamous Cell Carcinoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.8CDH1, VIM
2protein bindingGO:00055156.2CDH1, RUNX3, TGFBR2, TGFB1, VIM, RPL7

Sources for Esophagus Squamous Cell Carcinoma

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet