PGL3
MCID: PRG020
MIFTS: 36

Paragangliomas 3 (PGL3)

Categories: Cancer diseases, Ear diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Paragangliomas 3

MalaCards integrated aliases for Paragangliomas 3:

Name: Paragangliomas 3 57 53 74 29 13 6 72
Pgl3 57 53 74
Glomus Tumors, Familial, 3 57 53
Sdhc-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 53
Familial Non-Chromaffin Paragangliomas 3 74
Glomus Tumors Familial 3 74
Paragangliomas, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
signs and symptoms depend on tumor location and activity
see also pgl1 ()
cells of origin are part of the diffuse neuroendocrine system (dnes)
adult onset, wide range of age


HPO:

32
paragangliomas 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

MeSH 44 D010235
MedGen 42 C1854336
UMLS 72 C1854336

Summaries for Paragangliomas 3

UniProtKB/Swiss-Prot : 74 Paragangliomas 3: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.

MalaCards based summary : Paragangliomas 3, also known as pgl3, is related to hereditary paraganglioma-pheochromocytoma syndromes and paragangliomas 4, and has symptoms including aphonia An important gene associated with Paragangliomas 3 is SDHC (Succinate Dehydrogenase Complex Subunit C). Affiliated tissues include prostate, liver and lung, and related phenotypes are hyperhidrosis and cranial nerve paralysis

More information from OMIM: 605373 PS168000

Related Diseases for Paragangliomas 3

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 1
Paragangliomas 2 Paragangliomas 3
Paragangliomas 5 Paragangliomas 6
Paragangliomas 7 Nonsyndromic Paraganglioma

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

# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 11.4
2 paragangliomas 4 10.2
3 paragangliomas 1 10.2
4 paragangliomas 2 10.2
5 posttransplant acute limbic encephalitis 10.2
6 paraganglioma 9.8

Graphical network of the top 20 diseases related to Paragangliomas 3:



Diseases related to Paragangliomas 3

Symptoms & Phenotypes for Paragangliomas 3

Human phenotypes related to Paragangliomas 3:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 cranial nerve paralysis 32 HP:0006824
3 vocal cord paralysis 32 HP:0001605
4 hoarse voice 32 HP:0001609
5 tachycardia 32 HP:0001649
6 palpitations 32 HP:0001962
7 recurrent paroxysmal headache 32 HP:0002331
8 hypertension associated with pheochromocytoma 32 HP:0002640
9 adrenal pheochromocytoma 32 HP:0006748
10 extraadrenal pheochromocytoma 32 HP:0006737
11 episodic paroxysmal anxiety 32 HP:0000740
12 pulsatile tinnitus 32 HP:0008629
13 glomus jugular tumor 32 HP:0003001
14 chemodectoma 32 HP:0030074
15 loss of voice 32 HP:0001686
16 elevated circulating catecholamine level 32 HP:0003334

Symptoms via clinical synopsis from OMIM:

57
Voice:
loss of voice
hoarse voice (caused by tumor impingement)

Cardiovascular Heart:
palpitations (with pheochromocytoma)
tachycardia (with pheochromocytoma)

Skin Nails Hair Skin:
diaphoresis (with pheochromocytoma)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (with pheochromocytoma)

Respiratory Larynx:
vocal cord paralysis (caused by tumor impingement)

Head And Neck Ears:
pulsatile tinnitus (tympanic paraganglioma)

Cardiovascular Vascular:
hypertension (with pheochromocytoma)

Neurologic Central Nervous System:
headache (with pheochromocytoma)
cranial nerve palsies can arise with head and neck paragangliomas

Neoplasia:
paragangliomas
chemodectomas
carotid body tumors
glomus jugular tumors
multiple tumors
more
Laboratory Abnormalities:
elevated catecholamines (in patients with pheochromocytoma)

Clinical features from OMIM:

605373

UMLS symptoms related to Paragangliomas 3:


aphonia

Drugs & Therapeutics for Paragangliomas 3

Search Clinical Trials , NIH Clinical Center for Paragangliomas 3

Genetic Tests for Paragangliomas 3

Genetic tests related to Paragangliomas 3:

# Genetic test Affiliating Genes
1 Paragangliomas 3 29 SDHC

Anatomical Context for Paragangliomas 3

MalaCards organs/tissues related to Paragangliomas 3:

41
Prostate, Liver, Lung, Endothelial, Bone, Breast, Smooth Muscle

Publications for Paragangliomas 3

Articles related to Paragangliomas 3:

(show top 50) (show all 748)
# Title Authors PMID Year
1
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. 8 71
15342702 2004
2
Mutations in SDHC cause autosomal dominant paraganglioma, type 3. 8 71
11062460 2000
3
Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. 38 71
12658451 2003
4
Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. 38 8
11426453 2001
5
PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma. 38 8
10541590 1999
6
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 71
27854360 2017
7
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
8
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 71
25394175 2015
9
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 71
24893135 2014
10
Canadian guideline on genetic screening for hereditary renal cell cancers. 71
24319509 2013
11
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
12
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 8
21348866 2012
13
Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. 71
20816580 2010
14
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 71
20065170 2010
15
Hereditary Paraganglioma-Pheochromocytoma Syndromes 71
20301715 2008
16
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. 8
16249420 2005
17
Significant association of EED promoter hypomethylation with colorectal cancer. 38
31423224 2019
18
Transcriptional regulation of the porcine miR-17-92 cluster. 38
30972482 2019
19
MiR-145 protected the cell viability of human cerebral cortical neurons after oxygen-glucose deprivation by downregulating EPHA4. 38
31150684 2019
20
Relationship between porcine miR-20a and its putative target low-density lipoprotein receptor based on dual luciferase reporter gene assays. 38
30744358 2019
21
A 14-bp functional deletion within the CMTM2 gene is significantly associated with litter size in goat. 38
31362196 2019
22
Androgenic/antiandrogenic activities of PAEs determined by a novel AR-mediated reporter gene assay based on LLC-MK2 cells. 38
31367335 2019
23
Nuclear delivery of plasmid DNA determines the efficiency of gene expression. 38
31042002 2019
24
The A allele of the UCP2 -866G/A polymorphism changes UCP2 promoter activity in HUVECs treated with high glucose. 38
31218541 2019
25
[Cloning of New Antigen Gene MLAA-34 Promoter and Identification of Core Region in Acute Monocytic Leukemia]. 38
31204911 2019
26
Neuroendocrine Tumors (NETs) of the Minor Papilla/Ampulla: Analysis of 16 Cases Underlines Homology With Major Ampulla NETs and Differences From Extra-Ampullary Duodenal NETs. 38
30913089 2019
27
Identification of a promoter element mediating kisspeptin-induced increases in GnRH gene expression in sheep. 38
30853631 2019
28
The Flavonoid Quercetin Induces AP-1 Activation in FRTL-5 Thyroid Cells. 38
31035637 2019
29
Immobilization of plasmids in bacterial nanocellulose as gene activated matrix. 38
30732826 2019
30
Characterization of the human mucin 5AC promoter and its regulation by the histone acetyltransferase P300. 38
30628655 2019
31
Elovl4a participates in LC-PUFA biosynthesis and is regulated by PPARαβ in golden pompano Trachinotus ovatus (Linnaeus 1758). 38
30886313 2019
32
Significant association between KDM1A promoter hypomethylation and colorectal cancer in Han Chinese. 38
30638951 2019
33
Insecticides induce the co-expression of glutathione S-transferases through ROS/CncC pathway in Spodoptera exigua. 38
30857628 2019
34
Transcriptional Regulation of NAMPT Gene by Glycogen Synthase Kinase 3β in Goat Adipocytes. 38
30615481 2019
35
[Ubiquitin specific peptidase 22 regulates the transcription activity of mitogen-activated protein kinase kinase 6 gene]. 38
30837379 2019
36
Long non-coding RNA AFAP1-AS1 promoting epithelial-mesenchymal transition of endometriosis is correlated with transcription factor ZEB1. 38
30506548 2019
37
Identification of the minimum region of flatfish myostatin propeptide (Pep45-65) for myostatin inhibition and its potential to enhance muscle growth and performance in animals. 38
30998775 2019
38
Characterization and functional analyses of the human HTR1A gene: 5' regulatory region modulates gene expression in vitro. 38
30594152 2018
39
MiRNA-199a-5p positively regulated RANKL-induced osteoclast differentiation by target Mafb protein. 38
30387167 2018
40
Chitosan enhances gene delivery of oligonucleotide complexes with magnetic nanoparticles-cell-penetrating peptide. 38
30223733 2018
41
Genetic variants with gene regulatory effects are associated with diisocyanate-induced asthma. 38
29969634 2018
42
Androgen receptor induces EPHA3 expression by interacting with transcription factor SP1. 38
29917167 2018
43
Androgen receptor mediated epigenetic regulation of CRISP3 promoter in prostate cancer cells. 38
29477539 2018
44
The orphan G protein-coupled receptor 25 (GPR25) is activated by Apelin and Apela in non-mammalian vertebrates. 38
29727602 2018
45
Cloning and characterization of the human lactoferrin receptor gene promoter. 38
29464457 2018
46
miR-103 Functions as a Tumor Suppressor by Directly Targeting Programmed Cell Death 10 in NSCLC. 38
28734041 2018
47
The CCAAT box in the proximal SERCA2 gene promoter regulates basal and stress-induced transcription in cardiomyocytes. 38
28884444 2018
48
Distinctiveness in virological features and pathogenic potentials of subgenotypes D1, D2, D3 and D5 of Hepatitis B virus. 38
29795338 2018
49
The genetic diversity within the 1.4 kb HLA-G 5' upstream regulatory region moderately impacts on cellular microenvironment responses. 38
29618829 2018
50
Synthesis and characterization of a hyperbranched grafting copolymer PEI-g-PLeu for gene and drug co-delivery. 38
29687339 2018

Variations for Paragangliomas 3

ClinVar genetic disease variations for Paragangliomas 3:

6 (show top 50) (show all 176)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SDHC NC_000001.10: g.(?_161326467)_(161326630_?)del deletion Pathogenic 1:161326467-161326630 1:161356677-161356840
2 SDHC NM_003001.3(SDHC): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs755235380 1:161284196-161284196 1:161314406-161314406
3 SDHC NC_000001.10: g.(?_161284190)_(161332229_?)del deletion Pathogenic 1:161284190-161332229 1:161314400-161362439
4 SDHC NM_003001.3(SDHC): c.215del (p.Arg72fs) deletion Pathogenic rs1553264218 1:161310419-161310419 1:161340629-161340629
5 deletion Pathogenic
6 SDHC NM_003001.3(SDHC): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776652 1:161284198-161284198 1:161314408-161314408
7 SDHC SDHC, 8,372-BP DEL deletion Pathogenic
8 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 1:161293426-161293426 1:161323636-161323636
9 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 1:161326622-161326622 1:161356832-161356832
10 SDHC NM_003001.3(SDHC): c.406-?_*2318+?del deletion Pathogenic
11 SDHC NC_000001.10: g.(?_161326457)_(161332233_?)del deletion Pathogenic 1:161326457-161332233 1:161356667-161362443
12 SDHC NC_000001.10: g.(?_161326457)_(161326640_?)del deletion Pathogenic 1:161326457-161326640 1:161356667-161356850
13 SDHC NM_003001.3(SDHC): c.405+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs587776653 1:161326631-161326631 1:161356841-161356841
14 SDHC NM_003001.3(SDHC): c.405+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs587776653 1:161326631-161326631 1:161356841-161356841
15 SDHC NC_000001.10: g.(?_161310384)_(161310445_?)dup duplication Likely pathogenic 1:161310384-161310445 1:161340594-161340655
16 SDHC NM_003001.3(SDHC): c.78-1G> T single nucleotide variant Likely pathogenic rs786202200 1:161298185-161298185 1:161328395-161328395
17 SDHC NM_003001.3(SDHC): c.405+1delG deletion Likely pathogenic 1:161326631-161326631 1:161356841-161356841
18 SDHC NM_003001.3(SDHC): c.1A> T (p.Met1Leu) single nucleotide variant Likely pathogenic 1:161284196-161284196 1:161314406-161314406
19 SDHC NM_003001.3(SDHC): c.214C> T (p.Arg72Cys) single nucleotide variant Likely pathogenic 1:161310418-161310418 1:161340628-161340628
20 SDHC NM_003001.3(SDHC): c.380A> G (p.His127Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786203457 1:161326605-161326605 1:161356815-161356815
21 SDHC NM_003001.3(SDHC): c.405+23C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373731336 1:161326653-161326653 1:161356863-161356863
22 SDHC NM_003001.3(SDHC): c.148C> T (p.Arg50Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587778661 1:161298256-161298256 1:161328466-161328466
23 SDHC NM_003001.3(SDHC): c.54T> G (p.Phe18Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200761743 1:161293437-161293437 1:161323647-161323647
24 SDHC NM_003001.3(SDHC): c.490A> T (p.Met164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200375156 1:161332203-161332203 1:161362413-161362413
25 SDHC NM_003001.3(SDHC): c.224G> A (p.Gly75Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs786205147 1:161310428-161310428 1:161340638-161340638
26 SDHC NM_003001.3(SDHC): c.420A> G (p.Gly140=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727791 1:161332133-161332133 1:161362343-161362343
27 SDHC NM_003001.3(SDHC): c.377A> G (p.Tyr126Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs898854295 1:161326602-161326602 1:161356812-161356812
28 SDHC NM_003001.3(SDHC): c.99G> A (p.Thr33=) single nucleotide variant Conflicting interpretations of pathogenicity rs145535502 1:161298207-161298207 1:161328417-161328417
29 SDHC NM_003001.3(SDHC): c.149G> T (p.Arg50Leu) single nucleotide variant Uncertain significance rs769177037 1:161298257-161298257 1:161328467-161328467
30 SDHC NM_003001.3(SDHC): c.221C> T (p.Thr74Ile) single nucleotide variant Uncertain significance rs1332910409 1:161310425-161310425 1:161340635-161340635
31 SDHC NM_003001.3(SDHC): c.241+3A> G single nucleotide variant Uncertain significance rs1413662099 1:161310448-161310448 1:161340658-161340658
32 SDHC NM_003001.3(SDHC): c.282G> T (p.Gly94=) single nucleotide variant Uncertain significance rs536197277 1:161326507-161326507 1:161356717-161356717
33 SDHC NM_003001.3(SDHC): c.434T> C (p.Ile145Thr) single nucleotide variant Uncertain significance rs1553266487 1:161332147-161332147 1:161362357-161362357
34 SDHC NM_003001.3(SDHC): c.61C> G (p.Gln21Glu) single nucleotide variant Uncertain significance rs1553261768 1:161293444-161293444 1:161323654-161323654
35 SDHC NM_003001.3(SDHC): c.127A> C (p.Asn43His) single nucleotide variant Uncertain significance rs1553262439 1:161298235-161298235 1:161328445-161328445
36 SDHC NM_003001.3(SDHC): c.166A> C (p.Ile56Leu) single nucleotide variant Uncertain significance rs1363555121 1:161298274-161298274 1:161328484-161328484
37 SDHC NM_003001.3(SDHC): c.358C> T (p.Leu120Phe) single nucleotide variant Uncertain significance rs1161002093 1:161326583-161326583 1:161356793-161356793
38 SDHC NM_003001.3(SDHC): c.364T> C (p.Phe122Leu) single nucleotide variant Uncertain significance rs1553265808 1:161326589-161326589 1:161356799-161356799
39 SDHC NM_003001.3(SDHC): c.461T> C (p.Val154Ala) single nucleotide variant Uncertain significance rs1378160712 1:161332174-161332174 1:161362384-161362384
40 SDHC NM_003001.3(SDHC): c.116A> C (p.Glu39Ala) single nucleotide variant Uncertain significance rs1060501388 1:161298224-161298224 1:161328434-161328434
41 SDHC NM_003001.3(SDHC): c.374T> C (p.Met125Thr) single nucleotide variant Uncertain significance rs1060501387 1:161326599-161326599 1:161356809-161356809
42 SDHC NM_003001.3(SDHC): c.455G> T (p.Gly152Val) single nucleotide variant Uncertain significance rs1060501386 1:161332168-161332168 1:161362378-161362378
43 SDHC NM_003001.3(SDHC): c.432G> T (p.Lys144Asn) single nucleotide variant Uncertain significance rs1366410028 1:161332145-161332145 1:161362355-161362355
44 SDHC NM_003001.3(SDHC): c.64C> T (p.Leu22Phe) single nucleotide variant Uncertain significance rs1473438869 1:161293447-161293447 1:161323657-161323657
45 SDHC NM_003001.3(SDHC): c.160C> A (p.Pro54Thr) single nucleotide variant Uncertain significance rs1553262444 1:161298268-161298268 1:161328478-161328478
46 SDHC NM_003001.3(SDHC): c.264G> A (p.Ser88=) single nucleotide variant Uncertain significance rs1277488324 1:161326489-161326489 1:161356699-161356699
47 SDHC NM_003001.3(SDHC): c.22C> T (p.His8Tyr) single nucleotide variant Uncertain significance rs746666691 1:161293405-161293405 1:161323615-161323615
48 SDHC NM_003001.3(SDHC): c.4G> A (p.Ala2Thr) single nucleotide variant Uncertain significance rs1198315342 1:161284199-161284199 1:161314409-161314409
49 SDHC NM_003001.3(SDHC): c.20+3G> A single nucleotide variant Uncertain significance rs377566366 1:161284218-161284218 1:161314428-161314428
50 SDHC NM_003001.3(SDHC): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs748243732 1:161284202-161284202 1:161314412-161314412

Expression for Paragangliomas 3

Search GEO for disease gene expression data for Paragangliomas 3.

Pathways for Paragangliomas 3

GO Terms for Paragangliomas 3

Sources for Paragangliomas 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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