MCID: SLV025
MIFTS: 28

Salivary Gland Adenoma, Pleomorphic

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Salivary Gland Adenoma, Pleomorphic

MalaCards integrated aliases for Salivary Gland Adenoma, Pleomorphic:

Name: Salivary Gland Adenoma, Pleomorphic 57 55
Adenomas, Salivary Gland Pleomorphic, Somatic 57
Benign Epithelial Tumor of Salivary Glands 59
Adenomas, Salivary Gland Pleomorphic 13
Adenoma, Salivary Gland, Pleomorphic 40
Pleomorphic Salivary Gland Adenoma 59
Salivary Gland Pleomorphic Adenoma 73
Sgpa 57
Psa 57

Characteristics:

Orphanet epidemiological data:

59
benign epithelial tumor of salivary glands
Inheritance: Not applicable;
pleomorphic salivary gland adenoma
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
somatic mutation


HPO:

32
salivary gland adenoma, pleomorphic:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

OMIM 57 181030
ICD10 via Orphanet 34 D11.0 D11.7
MedGen 42 C1519176
UMLS 73 C1519176

Summaries for Salivary Gland Adenoma, Pleomorphic

MalaCards based summary : Salivary Gland Adenoma, Pleomorphic, also known as adenomas, salivary gland pleomorphic, somatic, is related to pleomorphic adenoma and prostate cancer. An important gene associated with Salivary Gland Adenoma, Pleomorphic is PLAG1 (PLAG1 Zinc Finger). Affiliated tissues include salivary gland, and related phenotypes are salivary gland neoplasm and Decreased shRNA abundance (Z-score < -2)

Description from OMIM: 181030

Related Diseases for Salivary Gland Adenoma, Pleomorphic

Diseases related to Salivary Gland Adenoma, Pleomorphic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 pleomorphic adenoma 30.2 HMGA2 PLAG1 S100B
2 prostate cancer 11.7
3 spondyloarthropathy 1 11.2
4 prostatitis 11.1
5 al amyloidosis 10.9
6 aging 10.4
7 prostatic hyperplasia, benign 10.4
8 adenocarcinoma 10.3
9 suppression of tumorigenicity 12 10.2
10 prostatic hypertrophy 10.1
11 psoriatic arthritis 10.1
12 arthritis 10.1
13 prostate disease 10.1
14 neuronitis 10.0
15 breast cancer 10.0
16 liver cirrhosis 9.8
17 lymphoma 9.8
18 psoriasis 9.8
19 alzheimer disease 9.8
20 colorectal cancer 9.8
21 lung cancer 9.8
22 neuroblastoma 9.8
23 body mass index quantitative trait locus 1 9.8
24 mucinous adenocarcinoma 9.8
25 breast disease 9.8
26 adenoma 9.8
27 meningitis 9.8
28 type i 9.8
29 47, xxy 9.8
30 bladder cancer 9.6
31 ovarian cancer 9.6
32 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.6
33 rheumatoid arthritis 9.6
34 lipoid congenital adrenal hyperplasia 9.6
35 lymphoma, hodgkin, classic 9.6
36 paine syndrome 9.6
37 oncocytoma 9.6
38 lymphoma, non-hodgkin, familial 9.6
39 human herpesvirus 8 9.6
40 polycystic ovary syndrome 9.6
41 spinal cord injury 9.6
42 female breast cancer 9.6
43 small cell carcinoma 9.6
44 bone disease 9.6
45 meningococcal meningitis 9.6
46 pneumonic plague 9.6
47 leukodystrophy 9.6
48 spondyloarthropathy 9.6
49 tetanus 9.6
50 pyelonephritis 9.6

Graphical network of the top 20 diseases related to Salivary Gland Adenoma, Pleomorphic:



Diseases related to Salivary Gland Adenoma, Pleomorphic

Symptoms & Phenotypes for Salivary Gland Adenoma, Pleomorphic

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
pleomorphic benign salivary gland adenoma (psa)

Laboratory Abnormalities:
chromosome 3p or 8q rearrangements (in many patients)


Clinical features from OMIM:

181030

Human phenotypes related to Salivary Gland Adenoma, Pleomorphic:

32
# Description HPO Frequency HPO Source Accession
1 salivary gland neoplasm 32 HP:0100684

GenomeRNAi Phenotypes related to Salivary Gland Adenoma, Pleomorphic according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.5 S100B PLAG1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.5 S100B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.5 PLAG1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.5 S100B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.5 S100B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.5 S100B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.28 S100B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.28 PLAG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.28 PLAG1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.28 PLAG1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.28 PLAG1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.28 S100B PLAG1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.28 S100B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.28 PLAG1

Drugs & Therapeutics for Salivary Gland Adenoma, Pleomorphic

Search Clinical Trials , NIH Clinical Center for Salivary Gland Adenoma, Pleomorphic

Genetic Tests for Salivary Gland Adenoma, Pleomorphic

Anatomical Context for Salivary Gland Adenoma, Pleomorphic

MalaCards organs/tissues related to Salivary Gland Adenoma, Pleomorphic:

41
Salivary Gland

Publications for Salivary Gland Adenoma, Pleomorphic

Articles related to Salivary Gland Adenoma, Pleomorphic:

# Title Authors Year
1
CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas. ( 16736500 )
2006
2
Physical mapping of chromosome 12q breakpoints in lipoma, pleomorphic salivary gland adenoma, uterine leiomyoma, and myxoid liposarcoma. ( 8020967 )
1994

Variations for Salivary Gland Adenoma, Pleomorphic

Cosmic variations for Salivary Gland Adenoma, Pleomorphic:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM43909 TP53 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 22
2 COSM44733 TP53 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 22
3 COSM43878 TP53 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 22
4 COSM10808 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 22
5 COSM533 KRAS salivary gland,NS,adenoma,pleomorphic c.38G>C p.G13A 12:25245347-25245347 22
6 COSM486 HRAS salivary gland,NS,adenoma,pleomorphic c.37G>C p.G13R 11:534286-534286 22
7 COSM482 HRAS salivary gland,NS,adenoma,pleomorphic c.34G>C p.G12R 11:534289-534289 22
8 COSM480 HRAS salivary gland,NS,adenoma,pleomorphic c.34G>A p.G12S 11:534289-534289 22

Expression for Salivary Gland Adenoma, Pleomorphic

Search GEO for disease gene expression data for Salivary Gland Adenoma, Pleomorphic.

Pathways for Salivary Gland Adenoma, Pleomorphic

GO Terms for Salivary Gland Adenoma, Pleomorphic

Biological processes related to Salivary Gland Adenoma, Pleomorphic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.16 HMGA2 PLAG1
2 positive regulation of gene expression GO:0010628 8.96 HMGA2 PLAG1
3 positive regulation of apoptotic process GO:0043065 8.62 HMGA2 S100B

Molecular functions related to Salivary Gland Adenoma, Pleomorphic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 8.62 HMGA2 PLAG1

Sources for Salivary Gland Adenoma, Pleomorphic

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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