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 58

Classifications:



External Ids:

UMLS via Orphanet 72 C0018671
Orphanet 58 ORPHA290849

Summaries for Rare Head and Neck Tumor

MalaCards based summary : Rare Head and Neck Tumor is related to thyroid tumor and nevus, epidermal. An important gene associated with Rare Head and Neck Tumor is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Cytokine Signaling in Immune system and GAB1 signalosome. Affiliated tissues include breast, thyroid and ovary, and related phenotypes are adipose tissue and neoplasm

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 93)
# Related Disease Score Top Affiliating Genes
1 thyroid tumor 28.9 TP53 PIK3CA FGFR2
2 nevus, epidermal 9.9 PIK3CA FGFR2
3 hypertelorism 9.9 PIK3CA FGFR2
4 hemangiopericytoma, malignant 9.9
5 paraganglioma 9.9
6 ameloblastoma 9.9
7 frontal sinus neoplasm 9.9
8 pigmented villonodular synovitis 9.9
9 synovitis 9.9
10 spindle cell carcinoma 9.9
11 villonodular synovitis 9.9
12 rare tumor 9.9
13 carcinosarcoma 9.9 TP53 PIK3CA
14 breast squamous cell carcinoma 9.8 TP53 PIK3CA
15 rare adenocarcinoma of the breast 9.8 TP53 PIK3CA
16 parameningeal embryonal rhabdomyosarcoma 9.8 TP53 PIK3CA
17 breast sarcoma 9.8 TP53 PIK3CA
18 ovarian carcinosarcoma 9.8 TP53 PIK3CA
19 thyroid gland anaplastic carcinoma 9.8 TP53 PIK3CA
20 vulva squamous cell carcinoma 9.8 TP53 PIK3CA
21 endometrioid ovary carcinoma 9.8 TP53 PIK3CA
22 uterine corpus serous adenocarcinoma 9.8 TP53 PIK3CA
23 uterine adnexa cancer 9.8 TP53 PIK3CA
24 vulvar disease 9.8 TP53 PIK3CA
25 hypertrophy of breast 9.8 TP53 PIK3CA
26 anal squamous cell carcinoma 9.8 TP53 PIK3CA
27 female reproductive endometrioid cancer 9.8 TP53 PIK3CA
28 uterine body mixed cancer 9.8 TP53 PIK3CA
29 anus cancer 9.8 TP53 PIK3CA
30 keratosis, seborrheic 9.8 TP53 PIK3CA
31 keratosis 9.8 TP53 PIK3CA
32 gallbladder adenocarcinoma 9.8 TP53 PIK3CA
33 rectum adenocarcinoma 9.8 TP53 PIK3CA
34 ovarian clear cell adenocarcinoma 9.8 TP53 PIK3CA
35 clear cell adenocarcinoma 9.8 TP53 PIK3CA
36 uterine corpus endometrial carcinoma 9.8 TP53 PIK3CA
37 mixed cell type cancer 9.8 TP53 PIK3CA
38 adrenocortical carcinoma, hereditary 9.8 TP53 PIK3CA
39 uterine corpus cancer 9.8 TP53 PIK3CA
40 vulva cancer 9.8 TP53 PIK3CA
41 ovarian cystadenocarcinoma 9.8 TP53 PIK3CA
42 cystadenocarcinoma 9.8 TP53 PIK3CA
43 luminal breast carcinoma 9.8 TP53 PIK3CA
44 oropharynx cancer 9.8 TP53 PIK3CA
45 ovarian clear cell carcinoma 9.8 TP53 PIK3CA
46 brain stem glioma 9.8 TP53 PIK3CA
47 pre-malignant neoplasm 9.8 TP53 PIK3CA
48 adenosquamous carcinoma 9.8 TP53 PIK3CA
49 serous cystadenocarcinoma 9.8 TP53 PIK3CA
50 apocrine adenosis of breast 9.8 TP53 FGFR2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.33 FGFR2 PIK3CA TP53
2 neoplasm MP:0002006 9.13 FGFR2 PIK3CA TP53
3 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:

40
Breast, Thyroid, Ovary, Lung, Brain

Publications for Rare Head and Neck Tumor

Articles related to Rare Head and Neck Tumor:

# Title Authors PMID Year
1
Enabling Precision Medicine for Rare Head and Neck Tumors: The Example of BRAF/MEK Targeting in Patients With Metastatic Ameloblastoma. 61
31781502 2019
2
A case of nasopharyngeal angiofibroma removed using a minimally invasive endoscopic endonasal technique. 61
30524630 2018
3
Thyroid paraganglioma: a case series of a rare head and neck tumor. 61
30093988 2018
4
Kaposiform hemangioendothelioma (with Kasabach Merritt syndrome) of the head and neck: case report and review of the literature. 61
19643504 2009
5
An unusual sinonasal tumor: soft tissue perineurioma. 61
19182108 2009
6
Sarcomatoid carcinoma of the maxillary sinus: a rare head and neck tumor. 61
18923206 2008
7
Hemangiopericytoma: a rare head and neck tumor. 61
12759763 2003
8
Pigmented villonodular synovitis of the temporomandibular joint: diagnostic imaging and endovascular therapeutic embolization of a rare head and neck tumor. 61
9974074 1999

Variations for Rare Head and Neck Tumor

ClinVar genetic disease variations for Rare Head and Neck Tumor:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR2 NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg)SNV Pathogenic 13273 rs77543610 10:123279674-123279674 10:121520160-121520160
2 TP53 NM_000546.5(TP53):c.916C>T (p.Arg306Ter)SNV Pathogenic 142144 rs121913344 17:7577022-7577022 17:7673704-7673704
3 PIK3CA NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)SNV Pathogenic/Likely pathogenic,drug response 375896 rs104886003 3:178936091-178936091 3:179218303-179218303
4 EGFR NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)SNV Likely pathogenic 376081 rs121913231 7:55242487-55242487 7:55174794-55174794
5 EGFR NM_005228.5(EGFR):c.1636C>T (p.Pro546Ser)SNV Likely pathogenic 376211 rs1057519830 7:55231430-55231430 7:55163737-55163737
6 EGFR NM_005228.5(EGFR):c.2527G>A (p.Val843Ile)SNV Likely pathogenic 376212 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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 TP53 PIK3CA FGFR2
2
Show member pathways
12.68 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
12.3 TP53 PIK3CA FGFR2
7
Show member pathways
12.25 TP53 PIK3CA FGFR2
8
Show member pathways
12.18 TP53 PIK3CA FGFR2
9
Show member pathways
12.1 TP53 PIK3CA FGFR2
10
Show member pathways
12.07 PIK3CA FGFR2
11 11.98 TP53 PIK3CA
12 11.97 TP53 PIK3CA
13
Show member pathways
11.94 PIK3CA FGFR2
14
Show member pathways
11.85 TP53 PIK3CA
15 11.85 TP53 PIK3CA
16
Show member pathways
11.84 PIK3CA FGFR2
17
Show member pathways
11.83 PIK3CA FGFR2
18
Show member pathways
11.81 TP53 PIK3CA
19
Show member pathways
11.8 TP53 PIK3CA FGFR2
20 11.77 PIK3CA FGFR2
21 11.76 TP53 PIK3CA
22
Show member pathways
11.7 TP53 PIK3CA
23 11.68 TP53 PIK3CA
24 11.67 TP53 PIK3CA
25 11.65 TP53 PIK3CA
26
Show member pathways
11.62 TP53 PIK3CA FGFR2
27 11.55 TP53 PIK3CA
28
Show member pathways
11.55 TP53 PIK3CA FGFR2
29 11.43 TP53 PIK3CA
30 11.38 TP53 PIK3CA
31
Show member pathways
11.37 TP53 PIK3CA
32 11.26 TP53 PIK3CA
33 11.17 PIK3CA FGFR2
34 10.7 PIK3CA FGFR2
35 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 response to ethanol GO:0045471 9.16 TP53 FGFR2
3 wound healing GO:0042060 8.96 TP53 FGFR2
4 embryonic organ development GO:0048568 8.62 TP53 FGFR2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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