MCID: ANL004
MIFTS: 41

Anal Canal Squamous Cell Carcinoma

Categories: Gastrointestinal diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Anal Canal Squamous Cell Carcinoma

MalaCards integrated aliases for Anal Canal Squamous Cell Carcinoma:

Name: Anal Canal Squamous Cell Carcinoma 12 15 73
Squamous Cell Carcinoma of the Anal Canal 59

Characteristics:

Orphanet epidemiological data:

59
squamous cell carcinoma of the anal canal
Inheritance: Not applicable;

Classifications:



Summaries for Anal Canal Squamous Cell Carcinoma

Disease Ontology : 12 An anal canal cancer that derives from epithelial squamous cells.

MalaCards based summary : Anal Canal Squamous Cell Carcinoma, also known as squamous cell carcinoma of the anal canal, is related to sweat gland disease and squamous cell carcinoma. An important gene associated with Anal Canal Squamous Cell Carcinoma is FLT1 (Fms Related Tyrosine Kinase 1), and among its related pathways/superpathways are ERK Signaling and PI3K-Akt signaling pathway. The drugs nivolumab and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and liver, and related phenotypes are anal canal squamous cell carcinoma and abdominal pain

Related Diseases for Anal Canal Squamous Cell Carcinoma

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



Diseases related to Anal Canal Squamous Cell Carcinoma

Symptoms & Phenotypes for Anal Canal Squamous Cell Carcinoma

Human phenotypes related to Anal Canal Squamous Cell Carcinoma:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anal canal squamous cell carcinoma 59 32 obligate (100%) Obligate (100%) HP:0030438
2 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
3 intestinal bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0002584
4 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
5 papilloma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012740
6 anal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002025
7 rectal prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0002035
8 neoplasm of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0002896
9 neoplasm of the skeletal system 59 32 occasional (7.5%) Occasional (29-5%) HP:0010622
10 neoplasm of the lung 59 32 occasional (7.5%) Occasional (29-5%) HP:0100526
11 neoplasm of the rectum 59 32 occasional (7.5%) Occasional (29-5%) HP:0100743
12 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042

MGI Mouse Phenotypes related to Anal Canal Squamous Cell Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.17 C1QTNF3 CDKN2A EGF FLT1 NCSTN PSEN1

Drugs & Therapeutics for Anal Canal Squamous Cell Carcinoma

Drugs for Anal Canal Squamous Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
nivolumab Approved Phase 2 946414-94-4
2 Antibodies Phase 2
3 Immunoglobulins Phase 2
4 Antibodies, Monoclonal Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nivolumab in Treating Patients With Refractory Metastatic Anal Canal Cancer Active, not recruiting NCT02314169 Phase 2

Search NIH Clinical Center for Anal Canal Squamous Cell Carcinoma

Genetic Tests for Anal Canal Squamous Cell Carcinoma

Anatomical Context for Anal Canal Squamous Cell Carcinoma

MalaCards organs/tissues related to Anal Canal Squamous Cell Carcinoma:

41
Skin, Lung, Liver, Lymph Node

Publications for Anal Canal Squamous Cell Carcinoma

Articles related to Anal Canal Squamous Cell Carcinoma:

# Title Authors Year
1
Prognostic value of serum CYFRA 21-1 1 in patients with anal canal squamous cell carcinoma treated with radio(chemo)therapy. ( 29653564 )
2018
2
Extended-Field Chemoradiation Therapy for Definitive Treatment of Anal Canal Squamous Cell Carcinoma Involving the Para-Aortic Lymph Nodes. ( 29907489 )
2018
3
The prospect of endoscopic submucosal dissection for early anal canal squamous cell carcinoma. ( 27738909 )
2016
4
Superficial anal canal squamous cell carcinoma diagnosed using narrow-band imaging and treated by endoscopic submucosal dissection. ( 25801993 )
2015
5
Education and Imaging. Gastrointestinal: advanced untreated anal canal squamous cell carcinoma. ( 23692575 )
2013
6
Establishment and characterization of the human SaTM-1 anal canal squamous cell carcinoma cell line derived from lymph node metastasis. ( 19724886 )
2009
7
Evidence of clinical activity for cetuximab combined with irinotecan in a patient with refractory anal canal squamous-cell carcinoma: report of a case. ( 17252287 )
2007
8
F-18 FDG PET/CT imaging of anal canal squamous cell carcinoma. ( 17314608 )
2007
9
Anal canal squamous-cell carcinoma in situ, clearly demonstrated by indigo carmine dye spraying: report of a case. ( 10950017 )
2000

Variations for Anal Canal Squamous Cell Carcinoma

Expression for Anal Canal Squamous Cell Carcinoma

Search GEO for disease gene expression data for Anal Canal Squamous Cell Carcinoma.

Pathways for Anal Canal Squamous Cell Carcinoma

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 CDKN2A EGF FLT1 NCSTN PSEN1 PSENEN
2
Show member pathways
12.66 EGF FLT1 PSEN1 VEGFD
3
Show member pathways
12.47 EGF NCSTN PSEN1 PSENEN
4
Show member pathways
12.11 EGF FLT1 VEGFD
5 11.95 NCSTN PSEN1 PSENEN
6
Show member pathways
11.9 NCSTN PSEN1 PSENEN
7 11.79 NCSTN PSEN1 PSENEN
8
Show member pathways
11.61 EGF NCSTN PSENEN
9
Show member pathways
11.36 NCSTN PSEN1 PSENEN
10 11.17 EGF FLT1
11 11.17 NCSTN PSEN1 PSENEN
12 10.99 NCSTN PSEN1 PSENEN
13
Show member pathways
10.64 FLT1 VEGFD
14 10.49 NCSTN PSEN1 PSENEN
15 10.03 NCSTN PSEN1 PSENEN
16 10.02 PSEN1 PSENEN

GO Terms for Anal Canal Squamous Cell Carcinoma

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

# Name GO ID Score Top Affiliating Genes
1 gamma-secretase complex GO:0070765 8.92 ENSG00000188223 NCSTN PSEN1 PSENEN

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 EGF FLT1 SERPINB3 VEGFD
2 positive regulation of apoptotic process GO:0043065 9.83 CDKN2A NCSTN PSEN1 PSENEN
3 angiogenesis GO:0001525 9.77 EGF FLT1 VEGFD
4 positive regulation of cell migration GO:0030335 9.77 EGF FLT1 SERPINB3
5 Notch signaling pathway GO:0007219 9.72 NCSTN PSEN1 PSENEN
6 positive regulation of catalytic activity GO:0043085 9.69 NCSTN PSEN1 PSENEN
7 ephrin receptor signaling pathway GO:0048013 9.67 NCSTN PSEN1 PSENEN
8 protein processing GO:0016485 9.63 NCSTN PSEN1 PSENEN
9 activation of MAPKK activity GO:0000186 9.61 EGF PSEN1
10 positive regulation of MAP kinase activity GO:0043406 9.61 EGF FLT1 PSEN1
11 positive regulation of phosphorylation GO:0042327 9.58 EGF PSEN1
12 membrane protein ectodomain proteolysis GO:0006509 9.58 NCSTN PSEN1 PSENEN
13 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.57 CDKN2A PSEN1
14 amyloid-beta metabolic process GO:0050435 9.56 NCSTN PSEN1
15 epithelial cell proliferation GO:0050673 9.54 NCSTN PSEN1
16 membrane protein intracellular domain proteolysis GO:0031293 9.54 NCSTN PSEN1 PSENEN
17 Notch receptor processing GO:0007220 9.5 NCSTN PSEN1 PSENEN
18 negative regulation of ubiquitin-protein transferase activity GO:0051444 9.48 CDKN2A PSEN1
19 Notch receptor processing, ligand-dependent GO:0035333 9.43 NCSTN PSEN1 PSENEN
20 amyloid precursor protein metabolic process GO:0042982 9.33 NCSTN PSEN1 PSENEN
21 amyloid precursor protein catabolic process GO:0042987 9.13 NCSTN PSEN1 PSENEN
22 amyloid-beta formation GO:0034205 8.8 NCSTN PSEN1 PSENEN

Sources for Anal Canal Squamous Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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