MCID: NSP015
MIFTS: 17

Nasopharyngeal Carcinoma 3

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

Aliases & Classifications for Nasopharyngeal Carcinoma 3

MalaCards integrated aliases for Nasopharyngeal Carcinoma 3:

Name: Nasopharyngeal Carcinoma 3 57
Nasopharyngeal Carcinoma, Susceptibility to, 3 57 6
Npca3 57 75
Nasopharyngeal Carcinoma, 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
nasopharyngeal carcinoma 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617075
MeSH 44 D009303
SNOMED-CT via HPO 69 263681008

Summaries for Nasopharyngeal Carcinoma 3

OMIM : 57 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 : 75 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:

57
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:

26 (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 MST1R CYP2A6
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:

75
# 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 679)
# 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 13
2 COSM6948029 ZFHX3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.8780G>T p.S2927I 16:72793902-72793902 13
3 COSM6973489 ZFHX3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.9572G>A p.G3191D 16:72788704-72788704 13
4 COSM4995216 ZC3H13 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.44C>G p.T15S 13:46045464-46045464 13
5 COSM4995307 ZBTB17 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.281C>T p.A94V 1:15947048-15947048 13
6 COSM6924419 YAP1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1178C>A p.A393D 11:102229765-102229765 13
7 COSM4995092 VPS33A upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.221C>A p.A74D 12:122263647-122263647 13
8 COSM4996600 VNN2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.83C>A p.A28D 6:132757801-132757801 13
9 COSM4995249 VANGL1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.884T>C p.L295P 1:115682435-115682435 13
10 COSM4996245 USP34 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.5131C>T p.Q1711* 2:61281110-61281110 13
11 COSM4997193 USP19 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3636G>T p.L1212F 3:49110728-49110728 13
12 COSM4995369 USH2A upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.89T>C p.L30S 1:216422248-216422248 13
13 COSM2978223 USH1G upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.520G>A p.D174N 17:74920316-74920316 13
14 COSM4995852 USE1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.370G>T p.E124* 19:17216307-17216307 13
15 COSM4996719 TTBK1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1757G>A p.R586Q 6:43263121-43263121 13
16 COSM4997149 TSR2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.187G>C p.D63H 23:54443414-54443414 13
17 COSM1524842 TSHZ3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1783G>A p.D595N 19:31277461-31277461 13
18 COSM4995873 TSHZ3 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1121C>T p.P374L 19:31278123-31278123 13
19 COSM6956334 TSC2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1753C>T p.R585C 16:2070492-2070492 13
20 COSM6908589 TSC1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.973C>T p.Q325* 9:132911509-132911509 13
21 COSM6973473 TSC1 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.2190G>T p.E730D 9:132903669-132903669 13
22 COSM4995721 TRAF4 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.955C>G p.R319G 17:28749119-28749119 13
23 COSM6973476 TRAF2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.4G>A p.A2T 9:136898744-136898744 13
24 COSM6807199 TRAF2 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1177C>T p.R393C 9:136923890-136923890 13
25 COSM2123037 TPR upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.3879G>A p.M1293I 1:186341261-186341261 13
26 COSM4996315 TP63 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1413C>G p.S471R 3:189886457-189886457 13
27 COSM10660 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.818G>A p.R273H 17:7673802-7673802 13
28 COSM10808 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.488A>G p.Y163C 17:7675124-7675124 13
29 COSM11376 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.737T>G p.M246R 17:7674226-7674226 13
30 COSM43708 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.422G>A p.C141Y 17:7675190-7675190 13
31 COSM45026 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.560-2A>T p.? 17:7674973-7674973 13
32 COSM44140 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.596G>T p.G199V 17:7674935-7674935 13
33 COSM43555 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.736A>G p.M246V 17:7674227-7674227 13
34 COSM10654 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.637C>T p.R213* 17:7674894-7674894 13
35 COSM10648 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.524G>A p.R175H 17:7675088-7675088 13
36 COSM11073 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.1024C>T p.R342* 17:7670685-7670685 13
37 COSM10662 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.743G>A p.R248Q 17:7674220-7674220 13
38 COSM10645 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.527G>T p.C176F 17:7675085-7675085 13
39 COSM10724 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.839G>C p.R280T 17:7673781-7673781 13
40 COSM45243 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.374C>G p.T125R 17:7675995-7675995 13
41 COSM11181 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.764T>C p.I255T 17:7674199-7674199 13
42 COSM43906 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.843C>A p.D281E 17:7673777-7673777 13
43 COSM43919 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.856G>T p.E286* 17:7673764-7673764 13
44 COSM43681 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.647T>G p.V216G 17:7674884-7674884 13
45 COSM45643 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.989T>G p.L330R 17:7673539-7673539 13
46 COSM6932 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.733G>A p.G245S 17:7674230-7674230 13
47 COSM10867 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.797G>A p.G266E 17:7673823-7673823 13
48 COSM11462 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.388C>G p.L130V 17:7675224-7675224 13
49 COSM10719 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.811G>A p.E271K 17:7673809-7673809 13
50 COSM10656 TP53 upper aerodigestive tract,nasopharynx,carcinoma,nasopharyngeal carcinoma c.742C>T p.R248W 17:7674221-7674221 13

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 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
Content
Loading form....