MCID: RRH024
MIFTS: 26

Rare Head and Neck Tumor

Categories: Rare diseases

Aliases & Classifications for Rare Head and Neck Tumor

MalaCards integrated aliases for Rare Head and Neck Tumor:

Name: Rare Head and Neck Tumor 59

Classifications:



External Ids:

UMLS via Orphanet 73 C0018671
Orphanet 59 ORPHA290849

Summaries for Rare Head and Neck Tumor

MalaCards based summary : Rare Head and Neck Tumor is related to carcinosarcoma and adult hepatocellular carcinoma. An important gene associated with Rare Head and Neck Tumor is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Cytokine Signaling in Immune system. Affiliated tissues include thyroid, and related phenotypes are adipose tissue and muscle

Related Diseases for Rare Head and Neck Tumor

Diseases related to Rare Head and Neck Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 carcinosarcoma 9.9 TP53 PIK3CA
2 adult hepatocellular carcinoma 9.9 TP53 PIK3CA
3 hemangiopericytoma, malignant 9.9
4 paraganglioma 9.9
5 frontal sinus neoplasm 9.9
6 pigmented villonodular synovitis 9.9
7 synovitis 9.9
8 spindle cell carcinoma 9.9
9 villonodular synovitis 9.9
10 rare tumor 9.9
11 thyroid tumor 9.9
12 rare adenocarcinoma of the breast 9.9 TP53 PIK3CA
13 malignant spiradenoma 9.9 TP53 PIK3CA
14 uterine corpus serous adenocarcinoma 9.9 TP53 PIK3CA
15 breast squamous cell carcinoma 9.9 TP53 PIK3CA
16 uterine body mixed cancer 9.9 TP53 PIK3CA
17 anal squamous cell carcinoma 9.9 TP53 PIK3CA
18 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 9.9 TP53 PIK3CA
19 uterine corpus cancer 9.9 TP53 PIK3CA
20 ovary adenocarcinoma 9.9 TP53 PIK3CA
21 skin squamous cell carcinoma 9.9 TP53 PIK3CA
22 penile cancer 9.9 TP53 PIK3CA
23 ovarian clear cell carcinoma 9.8 TP53 PIK3CA
24 brain stem glioma 9.8 TP53 PIK3CA
25 ovary epithelial cancer 9.8 TP53 PIK3CA
26 malignant ovarian surface epithelial-stromal neoplasm 9.8 TP53 PIK3CA
27 ovarian cancer 1 9.8 TP53 PIK3CA
28 adenosquamous carcinoma 9.8 TP53 PIK3CA
29 serous cystadenocarcinoma 9.8 TP53 PIK3CA
30 cystadenocarcinoma 9.8 TP53 PIK3CA
31 uterine anomalies 9.8 TP53 PIK3CA
32 ovarian serous cystadenocarcinoma 9.8 TP53 PIK3CA
33 respiratory system cancer 9.8 TP53 PIK3CA
34 cholangiocarcinoma 9.8 TP53 PIK3CA
35 intestinal disease 9.8 TP53 PIK3CA
36 renal cell carcinoma, papillary, 1 9.8 TP53 PIK3CA
37 oral cavity cancer 9.8 TP53 PIK3CA
38 gastrointestinal system cancer 9.7 TP53 PIK3CA
39 suppression of tumorigenicity 12 9.7 TP53 PIK3CA
40 adrenocortical carcinoma, hereditary 9.7 TP53 PIK3CA
41 endometrial adenocarcinoma 9.7 TP53 FGFR2
42 breast adenocarcinoma 9.7 TP53 PIK3CA
43 intrahepatic cholangiocarcinoma 9.7 TP53 FGFR2
44 small cell cancer of the lung 9.7 TP53 PIK3CA
45 gallbladder cancer 9.7 TP53 PIK3CA
46 melanoma, cutaneous malignant 1 9.6 TP53 PIK3CA
47 bladder urothelial carcinoma 9.6 TP53 PIK3CA
48 adamantinoma of long bones 9.5 TP53 PIK3CA
49 hydrocephalus 9.5 TP53 FGFR2
50 lymphoma, non-hodgkin, familial 9.5 TP53 PIK3CA

Graphical network of the top 20 diseases related to Rare Head and Neck Tumor:



Diseases related to Rare Head and Neck Tumor

Symptoms & Phenotypes for Rare Head and Neck Tumor

MGI Mouse Phenotypes related to Rare Head and Neck Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.43 FGFR2 PIK3CA TP53
2 muscle MP:0005369 9.33 FGFR2 PIK3CA TP53
3 neoplasm MP:0002006 9.13 FGFR2 PIK3CA TP53
4 no phenotypic analysis MP:0003012 8.8 FGFR2 PIK3CA TP53

Drugs & Therapeutics for Rare Head and Neck Tumor

Search Clinical Trials , NIH Clinical Center for Rare Head and Neck Tumor

Genetic Tests for Rare Head and Neck Tumor

Anatomical Context for Rare Head and Neck Tumor

MalaCards organs/tissues related to Rare Head and Neck Tumor:

41
Thyroid

Publications for Rare Head and Neck Tumor

Articles related to Rare Head and Neck Tumor:

# Title Authors PMID Year
1
A case of nasopharyngeal angiofibroma removed using a minimally invasive endoscopic endonasal technique. 38
30524630 2018
2
Thyroid paraganglioma: a case series of a rare head and neck tumor. 38
30093988 2018
3
Kaposiform hemangioendothelioma (with Kasabach Merritt syndrome) of the head and neck: case report and review of the literature. 38
19643504 2009
4
An unusual sinonasal tumor: soft tissue perineurioma. 38
19182108 2009
5
Sarcomatoid carcinoma of the maxillary sinus: a rare head and neck tumor. 38
18923206 2008
6
Hemangiopericytoma: a rare head and neck tumor. 38
12759763 2003
7
Pigmented villonodular synovitis of the temporomandibular joint: diagnostic imaging and endovascular therapeutic embolization of a rare head and neck tumor. 38
9974074 1999

Variations for Rare Head and Neck Tumor

ClinVar genetic disease variations for Rare Head and Neck Tumor:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FGFR2 NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg) single nucleotide variant Pathogenic rs77543610 10:123279674-123279674 10:121520160-121520160
2 TP53 NM_000546.5(TP53): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic rs121913344 17:7577022-7577022 17:7673704-7673704
3 PIK3CA NM_006218.4(PIK3CA): c.1633G> C (p.Glu545Gln) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs104886003 3:178936091-178936091 3:179218303-179218303
4 EGFR NM_005228.5(EGFR): c.2257C> T (p.Pro753Ser) single nucleotide variant Likely pathogenic rs121913231 7:55242487-55242487 7:55174794-55174794
5 EGFR NM_005228.5(EGFR): c.1636C> T (p.Pro546Ser) single nucleotide variant Likely pathogenic rs1057519830 7:55231430-55231430 7:55163737-55163737
6 EGFR NM_005228.5(EGFR): c.2527G> A (p.Val843Ile) single nucleotide variant Likely pathogenic rs146795390 7:55259469-55259469 7:55191776-55191776

Expression for Rare Head and Neck Tumor

Search GEO for disease gene expression data for Rare Head and Neck Tumor.

Pathways for Rare Head and Neck Tumor

Pathways related to Rare Head and Neck Tumor according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 TP53 PIK3CA FGFR2
2
Show member pathways
12.93 TP53 PIK3CA FGFR2
3
Show member pathways
12.55 TP53 PIK3CA FGFR2
4
Show member pathways
12.43 TP53 PIK3CA FGFR2
5 12.38 TP53 PIK3CA FGFR2
6
Show member pathways
12.28 TP53 PIK3CA FGFR2
7
Show member pathways
12.23 TP53 PIK3CA FGFR2
8
Show member pathways
12.22 TP53 PIK3CA FGFR2
9 11.96 TP53 PIK3CA
10 11.96 TP53 PIK3CA
11
Show member pathways
11.96 TP53 PIK3CA FGFR2
12
Show member pathways
11.94 PIK3CA FGFR2
13 11.85 TP53 PIK3CA
14
Show member pathways
11.84 PIK3CA FGFR2
15
Show member pathways
11.83 PIK3CA FGFR2
16
Show member pathways
11.83 TP53 PIK3CA
17
Show member pathways
11.8 TP53 PIK3CA
18 11.76 PIK3CA FGFR2
19 11.75 TP53 PIK3CA
20
Show member pathways
11.75 TP53 PIK3CA FGFR2
21
Show member pathways
11.7 TP53 PIK3CA
22 11.67 TP53 PIK3CA
23 11.67 TP53 PIK3CA
24 11.64 TP53 PIK3CA
25
Show member pathways
11.62 TP53 PIK3CA FGFR2
26 11.54 TP53 PIK3CA
27 11.43 TP53 PIK3CA
28 11.38 TP53 PIK3CA
29
Show member pathways
11.37 TP53 PIK3CA
30 11.29 TP53 PIK3CA FGFR2
31 11.26 TP53 PIK3CA
32 11.17 PIK3CA FGFR2
33 10.75 PIK3CA FGFR2
34 10.64 TP53 PIK3CA FGFR2

GO Terms for Rare Head and Neck Tumor

Biological processes related to Rare Head and Neck Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.26 PIK3CA FGFR2
2 phosphatidylinositol phosphorylation GO:0046854 8.85 PIK3CA
3 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.65 PIK3CA
4 regulation of multicellular organism growth GO:0040014 8.32 PIK3CA

Molecular functions related to Rare Head and Neck Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.33 TP53 PIK3CA FGFR2
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.65 PIK3CA
3 1-phosphatidylinositol-3-kinase activity GO:0016303 8.32 PIK3CA

Sources for Rare Head and Neck Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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