MCID: NSP009
MIFTS: 15

Nasopharyngeal Carcinoma 2

Categories: Genetic diseases, Cancer diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Nasopharyngeal Carcinoma 2

MalaCards integrated aliases for Nasopharyngeal Carcinoma 2:

Name: Nasopharyngeal Carcinoma 2 53
Nasopharyngeal Carcinoma, Susceptibility to, 2 53 13 69
Npca2 53

Characteristics:

OMIM:

53
Inheritance:
questionably mendelian, but strong genetic factor involved


Classifications:



External Ids:

OMIM 53 161550
MedGen 39 C2750548
SNOMED-CT via HPO 65 108369006 363346000
UMLS 69 C2750548

Summaries for Nasopharyngeal Carcinoma 2

OMIM : 53 Nasopharyngeal carcinoma is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx (summary by Tse et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (607107). (161550)

MalaCards based summary : Nasopharyngeal Carcinoma 2, also known as nasopharyngeal carcinoma, susceptibility to, 2, is related to nasopharyngeal carcinoma, and has symptoms including neoplasm An important gene associated with Nasopharyngeal Carcinoma 2 is NPCA2 (Nasopharyngeal Carcinoma, Susceptibility To, 2).

Related Diseases for Nasopharyngeal Carcinoma 2

Diseases in the Nasopharyngeal Carcinoma family:

Nasopharyngeal Carcinoma 2 Nasopharyngeal Carcinoma 3

Diseases related to Nasopharyngeal Carcinoma 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nasopharyngeal carcinoma 11.1

Symptoms & Phenotypes for Nasopharyngeal Carcinoma 2

Symptoms via clinical synopsis from OMIM:

53
Oncology:
nasopharyngeal cancer

Misc:
100-fold higher frequency in southern china than europe
males more frequently affected than females
hla linked gene confers greatly ineased risk


Clinical features from OMIM:

161550

Human phenotypes related to Nasopharyngeal Carcinoma 2:

31
# Description HPO Frequency HPO Source Accession
1 neoplasm 31 HP:0002664

Drugs & Therapeutics for Nasopharyngeal Carcinoma 2

Search Clinical Trials , NIH Clinical Center for Nasopharyngeal Carcinoma 2

Genetic Tests for Nasopharyngeal Carcinoma 2

Anatomical Context for Nasopharyngeal Carcinoma 2

Publications for Nasopharyngeal Carcinoma 2

Variations for Nasopharyngeal Carcinoma 2

Cosmic variations for Nasopharyngeal Carcinoma 2:

9 (show top 50) (show all 434)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM2255920 ZNF609 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1984G>A p.A662T 9
2 COSM4995216 ZC3H13 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.44C>G p.T15S 9
3 COSM4995307 ZBTB17 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.281C>T p.A94V 9
4 COSM4995092 VPS33A upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.221C>A p.A74D 9
5 COSM4996600 VNN2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.83C>A p.A28D 9
6 COSM4995249 VANGL1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.884T>C p.L295P 9
7 COSM4996245 USP34 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.5131C>T p.Q1711* 9
8 COSM4997193 USP19 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3636G>T p.L1212F 9
9 COSM4995369 USH2A upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.89T>C p.L30S 9
10 COSM2978223 USH1G upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.520G>A p.D174N 9
11 COSM4995852 USE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.370G>T p.E124* 9
12 COSM4996719 TTBK1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1757G>A p.R586Q 9
13 COSM4997149 TSR2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.187G>C p.D63H 9
14 COSM4995873 TSHZ3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1121C>T p.P374L 9
15 COSM1524842 TSHZ3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1783G>A p.D595N 9
16 COSM4995721 TRAF4 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.955C>G p.R319G 9
17 COSM2123037 TPR upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3879G>A p.M1293I 9
18 COSM4996315 TP63 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1413C>G p.S471R 9
19 COSM10659 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.817C>T p.R273C 9
20 COSM10654 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.637C>T p.R213* 9
21 COSM10724 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.839G>C p.R280T 9
22 COSM43906 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.843C>A p.D281E 9
23 COSM1739496 TNKS upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.583G>A p.V195M 9
24 COSM4996454 TMPRSS11E upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.268G>T p.A90S 9
25 COSM4996730 TFAP2D upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.767C>A p.A256E 9
26 COSM4996391 TET2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.4250T>G p.V1417G 9
27 COSM4996386 TET2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.988G>C p.E330Q 9
28 COSM4996526 SYNPO upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1394C>A p.P465Q 9
29 COSM4996648 SYNE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.6506C>T p.T2169I 9
30 COSM4996618 SYNE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.21845G>C p.W7282S 9
31 COSM4996643 SYNE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.7996C>A p.Q2666K 9
32 COSM4996638 SYNE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.8339T>C p.L2780P 9
33 COSM4996653 SYNE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.5827G>A p.E1943K 9
34 COSM4996628 SYNE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.14707G>T p.V4903L 9
35 COSM191830 SPTBN1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1916G>A p.R639H 9
36 COSM4995726 SPACA3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.376A>G p.N126D 9
37 COSM4994835 SORCS3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3082G>A p.V1028I 9
38 COSM4995636 SMG1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1682A>G p.Y561C 9
39 COSM2128623 SMG1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.2699A>G p.N900S 9
40 COSM4996349 SMARCC1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.2927G>C p.G976A 9
41 COSM4997191 SLITRK3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.796C>T p.H266Y 9
42 COSM4996929 SLC7A2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.296C>A p.A99E 9
43 COSM4996458 SLC4A4 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.331C>G p.L111V 9
44 COSM4997189 SLC19A1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.758G>T p.R253L 9
45 COSM4994897 SIRT1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.568C>A p.Q190K 9
46 COSM4995400 SIPA1L2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.2574C>A p.H858Q 9
47 COSM2167722 SF3A3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1081G>A p.E361K 9
48 COSM4996346 SETD2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3808C>T p.R1270C 9
49 COSM4996834 SDK1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.6347T>G p.L2116R 9
50 COSM971349 SALL1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.2582C>T p.S861L 9

Expression for Nasopharyngeal Carcinoma 2

Search GEO for disease gene expression data for Nasopharyngeal Carcinoma 2.

Pathways for Nasopharyngeal Carcinoma 2

GO Terms for Nasopharyngeal Carcinoma 2

Sources for Nasopharyngeal Carcinoma 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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