NPCA3
MCID: NSP015
MIFTS: 19

Nasopharyngeal Carcinoma 3 (NPCA3)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Oral diseases, Rare diseases, Respiratory 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 72
Nasopharyngeal Carcinoma, 3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
nasopharyngeal carcinoma 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617075
MeSH 44 D009303
SNOMED-CT via HPO 68 126680004 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) (Updated 20-May-2021)

MalaCards based summary : Nasopharyngeal Carcinoma 3, also known as nasopharyngeal carcinoma, susceptibility to, 3, is related to nasopharyngeal carcinoma and dermatomyositis. An important gene associated with Nasopharyngeal Carcinoma 3 is MST1R (Macrophage Stimulating 1 Receptor). Affiliated tissues include t cells, and related phenotype is neoplasia of the nasopharynx.

UniProtKB/Swiss-Prot : 72 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

Diseases related to Nasopharyngeal Carcinoma 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nasopharyngeal carcinoma 10.1
2 dermatomyositis 9.9
3 paraneoplastic syndromes 9.9

Symptoms & Phenotypes for Nasopharyngeal Carcinoma 3

Human phenotypes related to Nasopharyngeal Carcinoma 3:

31
# Description HPO Frequency HPO Source Accession
1 neoplasia of the nasopharynx 31 very rare (1%) HP:0100630

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Nose:
nasopharyngeal carcinoma, susceptibility to

Neoplasia:
nasopharyngeal carcinoma, susceptibility to

Clinical features from OMIM®:

617075 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Nasopharyngeal Carcinoma 3:

40
T Cells

Publications for Nasopharyngeal Carcinoma 3

Articles related to Nasopharyngeal Carcinoma 3:

# Title Authors PMID Year
1
Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma. 57 6
26951679 2016
2
Transcutaneous Ultrasonography for Diagnosis of Nasolabial Cyst. 61
28468194 2017
3
Decreased EBNA-1-specific CD8+ T cells in patients with Epstein-Barr virus-associated nasopharyngeal carcinoma. 61
19211798 2009
4
[Clinical analysis of curative effect of rhG-CSF on chemotherapy-induced leukopenia in cancer patients]. 61
12744750 2003
5
[Dermatomyositis and nasopharyngeal carcinoma: 3 cases]. 61
10844259 2000
6
The role of stereotactic radiosurgery in the treatment of malignant skull base tumors. 61
9392534 1997
7
[Trans-sphenoidal spread of rhinopharyngeal neoplasms. Correlations between computerized tomography and magnetic resonance]. 61
2267380 1990
8
Radiation induced cancer: a report of 10 cases. 61
6277226 1981
9
Nasopharyngeal carcinoma. 3. Ultrastructure of different growths leading to lymphoblastoid transformation in vitro. 61
4720887 1973

Variations for Nasopharyngeal Carcinoma 3

ClinVar genetic disease variations for Nasopharyngeal Carcinoma 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MST1R NM_002447.4(MST1R):c.917G>A (p.Arg306His) SNV risk factor 253185 rs200046052 GRCh37: 3:49940126-49940126
GRCh38: 3:49902693-49902693

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

72
# Symbol AA change Variation ID SNP ID
1 MST1R p.Arg306His VAR_076928 rs200046052

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

Sources for Nasopharyngeal Carcinoma 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....