NPCA3
MCID: NSP015
MIFTS: 16

Nasopharyngeal Carcinoma 3 (NPCA3)

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

Aliases & Classifications for Nasopharyngeal Carcinoma 3

MalaCards integrated aliases for Nasopharyngeal Carcinoma 3:

Name: Nasopharyngeal Carcinoma 3 58
Nasopharyngeal Carcinoma, Susceptibility to, 3 58 6
Npca3 58 76
Nasopharyngeal Carcinoma, 3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
increased frequency in southern china
some patients may have onset before age 20 years


HPO:

33
nasopharyngeal carcinoma 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617075
MeSH 45 D009303
SNOMED-CT via HPO 70 263681008

Summaries for Nasopharyngeal Carcinoma 3

OMIM : 58 Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by Dai et al., 2016) For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (607107). (617075)

MalaCards based summary : Nasopharyngeal Carcinoma 3, is also known as nasopharyngeal carcinoma, susceptibility to, 3. An important gene associated with Nasopharyngeal Carcinoma 3 is MST1R (Macrophage Stimulating 1 Receptor). Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 76 Nasopharyngeal carcinoma, 3: A form of nasopharyngeal carcinoma, a malignant neoplasm that originates in the nasopharyngeal epithelium and includes 4 subtypes: keratinizing squamous cell, non-keratinizing, basaloid squamous cell, and papillary adenocarcinoma.

Related Diseases for Nasopharyngeal Carcinoma 3

Diseases in the Nasopharyngeal Carcinoma family:

Nasopharyngeal Carcinoma 2 Nasopharyngeal Carcinoma 3

Symptoms & Phenotypes for Nasopharyngeal Carcinoma 3

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
nasopharyngeal carcinoma, susceptibility to

Neoplasia:
nasopharyngeal carcinoma, susceptibility to

Clinical features from OMIM:

617075

GenomeRNAi Phenotypes related to Nasopharyngeal Carcinoma 3 according to GeneCards Suite gene sharing:

27 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.92 MST1R
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.92 CYP2A6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.92 MST1R
4 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.92 MST1R
5 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.92 MST1R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.92 MST1R
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.92 MST1R
8 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.92 MST1R
9 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.92 CYP2A6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.92 CYP2A6 MST1R
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.92 MST1R
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.92 CYP2A6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.92 CYP2A6 MST1R
14 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.92 MST1R
15 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.92 CYP2A6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.92 MST1R
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.92 MST1R
18 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.92 CYP2A6

Drugs & Therapeutics for Nasopharyngeal Carcinoma 3

Search Clinical Trials , NIH Clinical Center for Nasopharyngeal Carcinoma 3

Genetic Tests for Nasopharyngeal Carcinoma 3

Anatomical Context for Nasopharyngeal Carcinoma 3

Publications for Nasopharyngeal Carcinoma 3

Variations for Nasopharyngeal Carcinoma 3

UniProtKB/Swiss-Prot genetic disease variations for Nasopharyngeal Carcinoma 3:

76
# Symbol AA change Variation ID SNP ID
1 MST1R p.Arg306His VAR_076928 rs200046052

ClinVar genetic disease variations for Nasopharyngeal Carcinoma 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MST1R NM_002447.3(MST1R): c.917G> A (p.Arg306His) single nucleotide variant risk factor rs200046052 GRCh37 Chromosome 3, 49940126: 49940126
2 MST1R NM_002447.3(MST1R): c.917G> A (p.Arg306His) single nucleotide variant risk factor rs200046052 GRCh38 Chromosome 3, 49902693: 49902693

Cosmic variations for Nasopharyngeal Carcinoma 3:

9 (show top 50) (show all 680)
# 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 0
2 COSM6973489 ZFHX3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.9572G>A p.G3191D 16:72788704-72788704 0
3 COSM6948029 ZFHX3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.8780G>T p.S2927I 16:72793902-72793902 0
4 COSM4995216 ZC3H13 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.44C>G p.T15S 13:46045464-46045464 0
5 COSM4995307 ZBTB17 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.281C>T p.A94V 1:15947048-15947048 0
6 COSM6924419 YAP1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1178C>A p.A393D 11:102229765-102229765 0
7 COSM4995092 VPS33A upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.221C>A p.A74D 12:122263647-122263647 0
8 COSM4996600 VNN2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.83C>A p.A28D 6:132757801-132757801 0
9 COSM4995249 VANGL1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.884T>C p.L295P 1:115682435-115682435 0
10 COSM4996245 USP34 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.5131C>T p.Q1711* 2:61281110-61281110 0
11 COSM4997193 USP19 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3636G>T p.L1212F 3:49110728-49110728 0
12 COSM4995369 USH2A upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.89T>C p.L30S 1:216422248-216422248 0
13 COSM2978223 USH1G upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.520G>A p.D174N 17:74920316-74920316 0
14 COSM4995852 USE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.370G>T p.E124* 19:17216307-17216307 0
15 COSM4996719 TTBK1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1757G>A p.R586Q 6:43263121-43263121 0
16 COSM4997149 TSR2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.187G>C p.D63H 23:54443414-54443414 0
17 COSM1524842 TSHZ3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1783G>A p.D595N 19:31277461-31277461 0
18 COSM4995873 TSHZ3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1121C>T p.P374L 19:31278123-31278123 0
19 COSM6956334 TSC2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1753C>T p.R585C 16:2070492-2070492 0
20 COSM6908589 TSC1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.973C>T p.Q325* 9:132911509-132911509 0
21 COSM6973473 TSC1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.2190G>T p.E730D 9:132903669-132903669 0
22 COSM4995721 TRAF4 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.955C>G p.R319G 17:28749119-28749119 0
23 COSM6973476 TRAF2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.4G>A p.A2T 9:136898744-136898744 0
24 COSM6807199 TRAF2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1177C>T p.R393C 9:136923890-136923890 0
25 COSM2123037 TPR upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3879G>A p.M1293I 1:186341261-186341261 0
26 COSM4996315 TP63 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1413C>G p.S471R 3:189886457-189886457 0
27 COSM43559 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.517G>T p.V173L 17:7675095-7675095 0
28 COSM33648 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.559+1G>C p.? 17:7675052-7675052 0
29 COSM10662 TP53 upper aerodigestive tract,nasopharynx,carcinoma,adenocarcinoma c.743G>A p.R248Q 17:7674220-7674220 0
30 COSM10660 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.818G>A p.R273H 17:7673802-7673802 0
31 COSM10808 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.488A>G p.Y163C 17:7675124-7675124 0
32 COSM11376 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.737T>G p.M246R 17:7674226-7674226 0
33 COSM43708 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.422G>A p.C141Y 17:7675190-7675190 0
34 COSM45026 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.560-2A>T p.? 17:7674973-7674973 0
35 COSM44140 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.596G>T p.G199V 17:7674935-7674935 0
36 COSM43555 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.736A>G p.M246V 17:7674227-7674227 0
37 COSM10654 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.637C>T p.R213* 17:7674894-7674894 0
38 COSM10648 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.524G>A p.R175H 17:7675088-7675088 0
39 COSM11073 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1024C>T p.R342* 17:7670685-7670685 0
40 COSM6503267 TP53 upper aerodigestive tract,nasopharynx,carcinoma,adenocarcinoma c.637C>T p.R213* 17:7674894-7674894 0
41 COSM10645 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.527G>T p.C176F 17:7675085-7675085 0
42 COSM10724 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.839G>C p.R280T 17:7673781-7673781 0
43 COSM45243 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.374C>G p.T125R 17:7675995-7675995 0
44 COSM11181 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.764T>C p.I255T 17:7674199-7674199 0
45 COSM43906 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.843C>A p.D281E 17:7673777-7673777 0
46 COSM326716 TP53 upper aerodigestive tract,nasopharynx,carcinoma,adenocarcinoma c.372C>A p.C124* 17:7675997-7675997 0
47 COSM43919 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.856G>T p.E286* 17:7673764-7673764 0
48 COSM43681 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.647T>G p.V216G 17:7674884-7674884 0
49 COSM6932 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.733G>A p.G245S 17:7674230-7674230 0
50 COSM45643 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.989T>G p.L330R 17:7673539-7673539 0

Expression for Nasopharyngeal Carcinoma 3

Search GEO for disease gene expression data for Nasopharyngeal Carcinoma 3.

Pathways for Nasopharyngeal Carcinoma 3

GO Terms for Nasopharyngeal Carcinoma 3

Molecular functions related to Nasopharyngeal Carcinoma 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 CYP2A6 MST1R

Sources for Nasopharyngeal Carcinoma 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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