MCID: SQM013
MIFTS: 64

Squamous Cell Carcinoma, Head and Neck malady

Genetic diseases, Rare diseases, Cancer diseases, Immune diseases categories

Aliases & Classifications for Squamous Cell Carcinoma, Head and Neck

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 60UMLS, 38NCIt, 33MeSH, 34MESH via Orphanet, 61UMLS via Orphanet
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Squamous Cell Carcinoma, Head and Neck, Aliases & Descriptions:

Name: Squamous Cell Carcinoma, Head and Neck 45 10
Squamous Cell Carcinoma of the Head and Neck 30 9 41 21 60
Head and Neck Squamous Cell Carcinoma 9 41 21 47
Hnscc 41 21 43 47
Squamous Cell Carcinoma of Head and Neck 47 22
Lymphoplasmacytic Leukemia 41 60
Small Lymphocytic Lymphoma 41 60
Squamous Cell Carcinoma, Head and Neck, Somatic 45
Squamous Cell Carcinomas of Head and Neck 9
Carcinoma, Squamous Cell of Head and Neck 41
B-Cell Chronic Lymphocytic Leukemia 41
B-Cell Chronic Lymphoid Leukemia 41
Lymphoplasmacytoid Immunocytoma 41
 
Carcinoma of the Head and Neck 9
B-Cell Malignancy, Low-Grade 60
Chronic Lymphocytic Leukemia 60
Lymphoma Small Lymphocytic 43
Head and Neck Carcinoma 9
Cancer of Head and Neck 60
Carcinoma of the Neck 9
Head and Neck Cancer 32
Cancer of Neck 60
Neck Carcinoma 60
Neck Cancer 43
Scchn 21
B-Cll 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Immune diseases
Orphanet: 47 
Rare tumors


Characteristics (Orphanet epidemiological data):

47

External Ids:

OMIM45 275355
Disease Ontology9 DOID:5520, DOID:1542
MeSH33 C535575
Orphanet47 67037
MESH via Orphanet34 C535575
UMLS via Orphanet61 C1168401

Summaries for Squamous Cell Carcinoma, Head and Neck

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MedlinePlus:32 Head and neck cancer includes cancers of the mouth, nose, sinuses, salivary glands, throat, and lymph nodes in the neck. most begin in the moist tissues that line the mouth, nose and throat. symptoms include a lump or sore that does not heal a sore throat that does not go away trouble swallowing a change or hoarseness in the voice using tobacco or alcohol increases your risk. in fact, 85 percent of head and neck cancers are linked to tobacco use, including smoking and smokeless tobacco. if found early, these cancers are often curable. treatments may include surgery, radiation therapy, chemotherapy or a combination. treatments can affect eating, speaking or even breathing, so patients may need rehabilitation. nih: national cancer institute

MalaCards based summary: Squamous Cell Carcinoma, Head and Neck, also known as squamous cell carcinoma of the head and neck, is related to colorectal cancer and breast cancer, and has symptoms including autosomal recessive inheritanceand squamous cell carcinoma. An important gene associated with Squamous Cell Carcinoma, Head and Neck is PTEN (phosphatase and tensin homolog), and among its related pathways are p53 Signaling and p53 signaling pathway. The drugs mercaptopurine and chlorambucil and the compounds gw9662 and panitumumab have been mentioned in the context of this disorder. Affiliated tissues include b cells, lymph node and salivary gland, and related mouse phenotypes are hematopoietic system and tumorigenesis.

Disease Ontology:9 A head and neck carcinoma that has material basis in squamous cells that line the moist, mucosal surfaces inside the head and neck.

Genetics Home Reference:21 Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat.

Description from OMIM:45 275355

Related Diseases for Squamous Cell Carcinoma, Head and Neck

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Graphical network of the top 20 diseases related to Squamous Cell Carcinoma, Head and Neck:



Diseases related to squamous cell carcinoma, head and neck

Symptoms for Squamous Cell Carcinoma, Head and Neck

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Symptoms by clinical synopsis from OMIM:

275355

Clinical features from OMIM:

275355

HPO human phenotypes related to Squamous Cell Carcinoma, Head and Neck:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 squamous cell carcinoma HP:0002860

Drugs & Therapeutics for Squamous Cell Carcinoma, Head and Neck

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Drug clinical trials:

Search ClinicalTrials for Squamous Cell Carcinoma, Head and Neck

Search NIH Clinical Center for Squamous Cell Carcinoma, Head and Neck

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Squamous Cell Carcinoma, Head and Neck

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Genetic tests related to Squamous Cell Carcinoma, Head and Neck:

id Genetic test Affiliating Genes
1 Squamous Cell Carcinoma of the Head and Neck22

Anatomical Context for Squamous Cell Carcinoma, Head and Neck

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MalaCards organs/tissues related to Squamous Cell Carcinoma, Head and Neck:

31
B cells, Lymph node, Salivary gland, Skin, Breast, Liver, T cells, Endothelial

Animal Models for Squamous Cell Carcinoma, Head and Neck or affiliated genes

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MGI Mouse Phenotypes related to Squamous Cell Carcinoma, Head and Neck:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.3EGFR, PTEN, TNFRSF10B, ING1
2MP:00020068.0EGFR, PTEN, TNFRSF10B, ING1

Publications for Squamous Cell Carcinoma, Head and Neck

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Variations for Squamous Cell Carcinoma, Head and Neck

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UniProtKB/Swiss-Prot genetic disease variations for Squamous Cell Carcinoma, Head and Neck:

62
id Symbol AA change Variation ID SNP ID
1ING1p.Ala335AspVAR_017420
2ING1p.Cys358SerVAR_017421
3ING1p.Asn359SerVAR_017422
4ING3p.Asp20GlyVAR_021263
5PTENp.Ala121GlyVAR_018103

Clinvar genetic disease variations for Squamous Cell Carcinoma, Head and Neck:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_005228.3(EGFR): c.2327G> A (p.Arg776His)single nucleotide variantdrug responsers483352806GRCh37Chr 7, 55249029: 55249029
2EGFRNM_005228.3(EGFR): c.2471G> A (p.Gly824Asp)single nucleotide variantdrug responsers483352808GRCh38Chr 7, 55191720: 55191720
3EGFRNM_005228.3(EGFR): c.2188C> G (p.Leu730Val)single nucleotide variantdrug responsers121913434GRCh37Chr 7, 55242418: 55242418
4NM_005228.3(EGFR): c.2393T> A (p.Leu798His)single nucleotide variantdrug responsers483352807GRCh38Chr 7, 55181402: 55181402
5EGFRNM_005228.3(EGFR): c.2176G> A (p.Val726Met)single nucleotide variantdrug responsers483352805GRCh37Chr 7, 55241728: 55241728
6EGFRNM_005228.3(EGFR): c.2155G> C (p.Gly719Arg)single nucleotide variantLikely pathogenic, drug responsers28929495GRCh37Chr 7, 55241707: 55241707
7TNFRSF10BTNFRSF10B, 2-BP INSinsertionPathogenic
8PTENNM_000314.4(PTEN): c.362C> G (p.Ala121Gly)single nucleotide variantPathogenicrs121909237GRCh37Chr 10, 89692878: 89692878
9ING1NM_198217.2(ING1): c.512G> C (p.Cys171Ser)single nucleotide variantPathogenicrs121909250GRCh37Chr 13, 111372083: 111372083
10ING1NM_198217.2(ING1): c.515A> G (p.Asn172Ser)single nucleotide variantPathogenicrs121909251GRCh37Chr 13, 111372086: 111372086
11ING1NM_198217.2(ING1): c.443C> A (p.Ala148Asp)single nucleotide variantPathogenicrs121909252GRCh37Chr 13, 111372014: 111372014

Cosmic variations for Squamous Cell Carcinoma, Head and Neck:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
128675CDKN2Aupper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma1

Expression for genes affiliated with Squamous Cell Carcinoma, Head and Neck

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LifeMap Discovery
Genes differentially expressed in tissues of Squamous Cell Carcinoma, Head and Neck patients vs. healthy controls: 30 (show all 18)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1ARG1arginase 1Blood+11.630.000
2IFI27interferon, alpha-inducible protein 27Blood+5.470.000
3OTOFotoferlinBlood+5.250.000
4TMPRSS11Btransmembrane protease, serine 11BHead Mesenchyme-4.810.000
5CRISP3cysteine-rich secretory protein 3Head Mesenchyme-4.480.000
6MALmal, T-cell differentiation proteinHead Mesenchyme-4.390.000
7IFIT1interferon-induced protein with tetratricopeptide repeats 1Blood+4.220.000
8LINC00661long intergenic non-protein coding RNA 661Blood+4.150.000
9SIGLEC1sialic acid binding Ig-like lectin 1, sialoadhesinBlood+4.120.000
10CRNNcornulinHead Mesenchyme-4.000.000
11RSAD2radical S-adenosyl methionine domain containing 2Blood+3.810.000
12IFI44Linterferon-induced protein 44-likeBlood+3.580.000
13KRT4keratin 4Head Mesenchyme-3.410.000
14USP41ubiquitin specific peptidase 41Blood+3.400.000
15CLCA4chloride channel accessory 4Head Mesenchyme-3.310.000
16HESX1HESX homeobox 1Blood+3.220.000
17TGM3transglutaminase 3Head Mesenchyme-3.080.000
18IFIT3interferon-induced protein with tetratricopeptide repeats 3Blood+3.080.000

Search GEO for disease gene expression data for Squamous Cell Carcinoma, Head and Neck.

Pathways for genes affiliated with Squamous Cell Carcinoma, Head and Neck

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Pathways related to Squamous Cell Carcinoma, Head and Neck according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6TNFRSF10B, PTEN
2
Show member pathways
DNA damage response36
9.6TNFRSF10B, PTEN
39.5PTEN, ING1
49.2EGFR, PTEN
5
Show member pathways
Signal transduction PTEN pathway58
9.2EGFR, PTEN
6
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
9.2EGFR, PTEN
79.2EGFR, PTEN
8
Show member pathways
Translation Non genomic rapid action of Androgen Receptor58
9.2EGFR, PTEN
99.2EGFR, PTEN
109.2EGFR, PTEN
11
Show member pathways
8.8TNFRSF10B, PTEN, EGFR
12
Show member pathways
8.8EGFR, PTEN, TNFRSF10B
138.8EGFR, PTEN, TNFRSF10B
14
Show member pathways
8.8TNFRSF10B, PTEN, EGFR

Compounds for genes affiliated with Squamous Cell Carcinoma, Head and Neck

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Compounds related to Squamous Cell Carcinoma, Head and Neck according to GeneCards Suite gene sharing:

(show all 30)
idCompoundScoreTop Affiliating Genes
1gw966243 2811.0PTEN, TNFRSF10B
2panitumumab43 49 1211.6PTEN, EGFR
3taxane439.6EGFR, PTEN
4cetuximab43 49 1211.6EGFR, PTEN
5bicalutamide43 59 1211.6EGFR, PTEN
6erlotinib43 49 1211.5PTEN, EGFR
7topotecan43 1210.5TNFRSF10B, EGFR
8suberoylanilide hydroxamic acid439.5EGFR, TNFRSF10B
9trastuzumab43 49 1211.5EGFR, PTEN
10amiloride43 28 1211.5EGFR, TNFRSF10B
11oxaliplatin43 49 1211.5EGFR, TNFRSF10B
12flavopiridol43 1210.5TNFRSF10B, EGFR
13etoposide43 49 59 1212.4PTEN, TNFRSF10B, ING1
14gefitinib43 49 1211.4PTEN, EGFR
15celecoxib43 59 28 49 24 1214.4EGFR, TNFRSF10B
16irinotecan43 49 1211.3EGFR, TNFRSF10B
17adpribose439.3EGFR, TNFRSF10B
18curcumin439.2EGFR, TNFRSF10B
19bortezomib43 49 1211.2EGFR, PTEN, TNFRSF10B
20gemcitabine43 49 1211.2EGFR, PTEN, TNFRSF10B
21mg 13243 5910.2EGFR, PTEN, TNFRSF10B
225fluorouracil439.1TNFRSF10B, PTEN, EGFR
23imatinib43 49 1211.1EGFR, PTEN
24doxorubicin43 49 1211.1TNFRSF10B, PTEN, EGFR
25cycloheximide439.0EGFR, PTEN, TNFRSF10B
26vegf438.9EGFR, PTEN, TNFRSF10B
27estrogen438.7ING1, PTEN, EGFR
28paclitaxel43 49 1210.7EGFR, PTEN, TNFRSF10B, ING1
29cisplatin43 49 59 1211.6ING1, TNFRSF10B, PTEN, EGFR
30retinoic acid43 249.5EGFR, PTEN, TNFRSF10B

GO Terms for genes affiliated with Squamous Cell Carcinoma, Head and Neck

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Cellular components related to Squamous Cell Carcinoma, Head and Neck according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056347.6EGFR, FAT2, PTEN, ING3, ING1

Biological processes related to Squamous Cell Carcinoma, Head and Neck according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1learning or memoryGO:00076119.3EGFR, PTEN
2fibroblast growth factor receptor signaling pathwayGO:00085439.2EGFR, PTEN
3cellular response to mechanical stimulusGO:00712609.2EGFR, TNFRSF10B
4phosphatidylinositol-mediated signalingGO:00480159.1PTEN, EGFR
5cell surface receptor signaling pathwayGO:00071668.9EGFR, TNFRSF10B

Molecular functions related to Squamous Cell Carcinoma, Head and Neck according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1methylated histone residue bindingGO:00350649.3ING3, ING1

Products for genes affiliated with Squamous Cell Carcinoma, Head and Neck

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Sources for Squamous Cell Carcinoma, Head and Neck

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet