PSA
MCID: SLV025
MIFTS: 34

Salivary Gland Adenoma, Pleomorphic (PSA)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare 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
Pleomorphic Adenoma of Salivary Gland 29
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 somatic mutation autosomal dominant inheritance


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, lung and liver, 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 97)
# Related Disease Score Top Affiliating Genes
1 pleomorphic adenoma 31.6 S100B PLAG1 HMGA2
2 prostate cancer 11.8
3 spondyloarthropathy 1 11.4
4 al amyloidosis 11.1
5 arthritis 10.5
6 prostatic hyperplasia, benign 10.5
7 psoriatic arthritis 10.5
8 adenocarcinoma 10.5
9 prostatitis 10.4
10 pleomorphic adenoma carcinoma 10.3
11 suppression of tumorigenicity 12 10.3
12 myoepithelioma 10.2
13 prostatic hypertrophy 10.2
14 prostate disease 10.2
15 psoriasis 10.2
16 nodular hidradenoma 10.1
17 hidradenoma 10.1
18 warthin tumor 10.1
19 leiomyoma, uterine 10.1
20 myxoid liposarcoma 10.1
21 leiomyoma 10.1
22 liposarcoma 10.1
23 breast cancer 10.1
24 rheumatoid arthritis 10.1
25 prostatic adenoma 10.1
26 body mass index quantitative trait locus 1 10.0
27 alpha-2-macroglobulin deficiency 10.0
28 polycystic ovary syndrome 10.0
29 aging 10.0
30 liver cirrhosis 10.0
31 patulous eustachian tube 10.0
32 alzheimer disease 9.9
33 lung cancer 9.9
34 neuroblastoma 9.9
35 polycythemia vera 9.9
36 body mass index quantitative trait locus 11 9.9
37 body mass index quantitative trait locus 10 9.9
38 prostate cancer, hereditary, 7 9.9
39 body mass index quantitative trait locus 14 9.9
40 body mass index quantitative trait locus 18 9.9
41 body mass index quantitative trait locus 19 9.9
42 spinal cord injury 9.9
43 lymphoma 9.9
44 mucinous adenocarcinoma 9.9
45 breast disease 9.9
46 meningitis 9.9
47 bladder cancer 9.7
48 colorectal cancer 9.7
49 esterase c 9.7
50 lichen sclerosus et atrophicus 9.7

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 PLAG1 S100B
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 PLAG1 S100B
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

Genetic tests related to Salivary Gland Adenoma, Pleomorphic:

# Genetic test Affiliating Genes
1 Pleomorphic Adenoma of Salivary Gland 29 PLAG1

Anatomical Context for Salivary Gland Adenoma, Pleomorphic

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

41
Salivary Gland, Lung, Liver, Bone, Ovary, Spinal Cord, Prostate

Publications for Salivary Gland Adenoma, Pleomorphic

Articles related to Salivary Gland Adenoma, Pleomorphic:

# Title Authors Year
1
Cripto-1 is overexpressed in carcinoma ex pleomorphic adenoma of salivary gland. ( 29594385 )
2018
2
A hepatic metastasis from pleomorphic adenoma of salivary gland: an unusual presentation. ( 20583437 )
2010
3
Expressions of androgen receptor and its co-regulators in carcinoma ex pleomorphic adenoma of salivary gland. ( 19672785 )
2009
4
Pleomorphic adenoma of salivary gland: to what extent does fine needle aspiration cytology reflect histopathological features? ( 15787647 )
2005
5
Mucin expression in pleomorphic adenoma of salivary gland: a potential role for MUC1 as a marker to predict recurrence. ( 15280401 )
2004
6
[p53 gene mutation determined by single-strand conformational polymorphism and DNA sequencing analysis in pleomorphic adenoma of salivary gland]. ( 11776898 )
1999
7
Myoepithelial carcinoma in pleomorphic adenoma of salivary gland type, occurring in the mandible of an infant. ( 8548041 )
1995
8
Glial fibrillary acidic protein expression in pleomorphic adenoma of salivary gland: an immunoelectron microscopic study. ( 2192489 )
1990

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 25
2 COSM44733 TP53 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 25
3 COSM43878 TP53 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 25
4 COSM10808 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 25
5 COSM533 KRAS salivary gland,NS,adenoma,pleomorphic c.38G>C p.G13A 12:25245347-25245347 25
6 COSM486 HRAS salivary gland,NS,adenoma,pleomorphic c.37G>C p.G13R 11:534286-534286 25
7 COSM482 HRAS salivary gland,NS,adenoma,pleomorphic c.34G>C p.G12R 11:534289-534289 25
8 COSM480 HRAS salivary gland,NS,adenoma,pleomorphic c.34G>A p.G12S 11:534289-534289 25

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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.96 HMGA2 PLAG1
2 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific 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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