MCID: NSP009
MIFTS: 15

Nasopharyngeal Carcinoma 2

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

Aliases & Classifications for Nasopharyngeal Carcinoma 2

MalaCards integrated aliases for Nasopharyngeal Carcinoma 2:

Name: Nasopharyngeal Carcinoma 2 57
Nasopharyngeal Carcinoma, Susceptibility to, 2 57 13 73
Npca2 57

Characteristics:

OMIM:

57
Inheritance:
questionably mendelian, but strong genetic factor involved


Classifications:



External Ids:

OMIM 57 161550
MedGen 42 C2750548
SNOMED-CT via HPO 69 108369006 363346000
UMLS 73 C2750548

Summaries for Nasopharyngeal Carcinoma 2

OMIM : 57 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. An important gene associated with Nasopharyngeal Carcinoma 2 is NPCA2 (Nasopharyngeal Carcinoma, Susceptibility To, 2). Related phenotype is neoplasm.

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 neoplasm 32 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 664)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM2255920 ZNF609 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1984G>A p.A662T 15:64674838-64674838 9
2 COSM6948029 ZFHX3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.8780G>T p.S2927I 16:72793902-72793902 9
3 COSM6973489 ZFHX3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.9572G>A p.G3191D 16:72788704-72788704 9
4 COSM4995216 ZC3H13 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.44C>G p.T15S 13:46045464-46045464 9
5 COSM4995307 ZBTB17 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.281C>T p.A94V 1:15947048-15947048 9
6 COSM6924419 YAP1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1178C>A p.A393D 11:102229765-102229765 9
7 COSM4995092 VPS33A upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.221C>A p.A74D 12:122263647-122263647 9
8 COSM4996600 VNN2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.83C>A p.A28D 6:132757801-132757801 9
9 COSM4995249 VANGL1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.884T>C p.L295P 1:115682435-115682435 9
10 COSM4996245 USP34 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.5131C>T p.Q1711* 2:61281110-61281110 9
11 COSM4997193 USP19 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3636G>T p.L1212F 3:49110728-49110728 9
12 COSM4995369 USH2A upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.89T>C p.L30S 1:216422248-216422248 9
13 COSM2978223 USH1G upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.520G>A p.D174N 17:74920316-74920316 9
14 COSM4995852 USE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.370G>T p.E124* 19:17216307-17216307 9
15 COSM4996719 TTBK1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1757G>A p.R586Q 6:43263121-43263121 9
16 COSM4997149 TSR2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.187G>C p.D63H 23:54443414-54443414 9
17 COSM1524842 TSHZ3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1783G>A p.D595N 19:31277461-31277461 9
18 COSM4995873 TSHZ3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1121C>T p.P374L 19:31278123-31278123 9
19 COSM6956334 TSC2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1753C>T p.R585C 16:2070492-2070492 9
20 COSM6908589 TSC1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.973C>T p.Q325* 9:132911509-132911509 9
21 COSM6973473 TSC1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.2190G>T p.E730D 9:132903669-132903669 9
22 COSM4995721 TRAF4 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.955C>G p.R319G 17:28749119-28749119 9
23 COSM6973476 TRAF2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.4G>A p.A2T 9:136898744-136898744 9
24 COSM6807199 TRAF2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1177C>T p.R393C 9:136923890-136923890 9
25 COSM2123037 TPR upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3879G>A p.M1293I 1:186341261-186341261 9
26 COSM4996315 TP63 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1413C>G p.S471R 3:189886457-189886457 9
27 COSM10660 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.818G>A p.R273H 17:7673802-7673802 9
28 COSM10808 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.488A>G p.Y163C 17:7675124-7675124 9
29 COSM11376 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.737T>G p.M246R 17:7674226-7674226 9
30 COSM43708 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.422G>A p.C141Y 17:7675190-7675190 9
31 COSM45026 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.560-2A>T p.? 17:7674973-7674973 9
32 COSM44140 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.596G>T p.G199V 17:7674935-7674935 9
33 COSM43555 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.736A>G p.M246V 17:7674227-7674227 9
34 COSM10654 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.637C>T p.R213* 17:7674894-7674894 9
35 COSM10648 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.524G>A p.R175H 17:7675088-7675088 9
36 COSM11073 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1024C>T p.R342* 17:7670685-7670685 9
37 COSM10662 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.743G>A p.R248Q 17:7674220-7674220 9
38 COSM10645 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.527G>T p.C176F 17:7675085-7675085 9
39 COSM10724 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.839G>C p.R280T 17:7673781-7673781 9
40 COSM45243 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.374C>G p.T125R 17:7675995-7675995 9
41 COSM11181 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.764T>C p.I255T 17:7674199-7674199 9
42 COSM43906 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.843C>A p.D281E 17:7673777-7673777 9
43 COSM43919 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.856G>T p.E286* 17:7673764-7673764 9
44 COSM43681 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.647T>G p.V216G 17:7674884-7674884 9
45 COSM45643 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.989T>G p.L330R 17:7673539-7673539 9
46 COSM6932 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.733G>A p.G245S 17:7674230-7674230 9
47 COSM10867 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.797G>A p.G266E 17:7673823-7673823 9
48 COSM11462 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.388C>G p.L130V 17:7675224-7675224 9
49 COSM10719 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.811G>A p.E271K 17:7673809-7673809 9
50 COSM10656 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.742C>T p.R248W 17:7674221-7674221 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
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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