PGL3
MCID: PRG020
MIFTS: 39

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 20 73 29 13 6 71
Pgl3 57 20 73
Glomus Tumors, Familial, 3 57 20
Sdhc-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 20
Familial Non-Chromaffin Paragangliomas 3 73
Glomus Tumors Familial 3 73
Paragangliomas, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
paragangliomas 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



Summaries for Paragangliomas 3

UniProtKB/Swiss-Prot : 73 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 paraganglioma, and has symptoms including aphonia An important gene associated with Paragangliomas 3 is SDHC (Succinate Dehydrogenase Complex Subunit C). Affiliated tissues include lung, liver and prostate, and related phenotypes are hyperhidrosis and cranial nerve paralysis

More information from OMIM: 605373 PS168000

Related Diseases for Paragangliomas 3

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 HP:0000975
2 cranial nerve paralysis 31 HP:0006824
3 vocal cord paralysis 31 HP:0001605
4 hoarse voice 31 HP:0001609
5 tachycardia 31 HP:0001649
6 palpitations 31 HP:0001962
7 recurrent paroxysmal headache 31 HP:0002331
8 hypertension associated with pheochromocytoma 31 HP:0002640
9 adrenal pheochromocytoma 31 HP:0006748
10 extraadrenal pheochromocytoma 31 HP:0006737
11 episodic paroxysmal anxiety 31 HP:0000740
12 pulsatile tinnitus 31 HP:0008629
13 loss of voice 31 HP:0001686
14 elevated circulating catecholamine level 31 HP:0003334
15 glomus jugular tumor 31 HP:0003001
16 chemodectoma 31 HP:0030074

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
Lung, Liver, Prostate, Endothelial, Bone, Smooth Muscle, Breast

Publications for Paragangliomas 3

Articles related to Paragangliomas 3:

(show top 50) (show all 772)
# Title Authors PMID Year
1
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. 57 6
15342702 2004
2
Mutations in SDHC cause autosomal dominant paraganglioma, type 3. 57 6
11062460 2000
3
Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. 6 61
12658451 2003
4
Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. 57 61
11426453 2001
5
PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma. 61 57
10541590 1999
6
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 57
21348866 2012
7
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. 57
16249420 2005
8
The basal transcriptional activity of the murine Klf10 gene is regulated by the transcriptional factor JunB. 61
33555508 2021
9
SOX11 and FAK participate in the stretch‑induced mechanical injury to alveolar type 2 epithelial cells. 61
33236128 2021
10
[Construction of macrophage RAW 264.7 cells with gsdmd gene knockout by CRISPR/Cas9 system]. 61
33509763 2021
11
Investigation of Targeting Relationship between Micro-Rna-22 and Vegfr3 in Lung Squamous Cell Carcinoma. 61
32691705 2021
12
Peptide Gene Delivery Vectors for Specific Transfection of Glioma Cells. 61
33320593 2020
13
Transcriptional control of chicken KLF7 promoter in preadipocytes. 61
33330912 2020
14
The Asp298Asn polymorphism of melanocortin-4 receptor (MC4R) in pigs: evidence for its potential effects on MC4R constitutive activity and cell surface expression. 61
32738077 2020
15
Guanidyl and imidazolyl integration group-modified PAMAM for gastric adenocarcinoma gene therapy. 61
32558063 2020
16
Construction of a sensitive and specific lead biosensor using a genetically engineered bacterial system with a luciferase gene reporter controlled by pbr and cadA promoters. 61
33076919 2020
17
Knocking out Analysis of the CpxP gene using Crispr/Cas9 in Escherichia coli MG1655. 61
32979149 2020
18
Influence of the reporter vector backbone on 2-deoxyglucose dependent promoter activation. 61
32886468 2020
19
Thalidomide inhibits the gene promoter of connective tissue growth factor in human embryonic lung fibroblasts. 61
32819116 2020
20
MicroRNA-34a inhibits cell invasion and epithelial-mesenchymal transition via targeting AXL/PI3K/AKT/Snail signaling in nasopharyngeal carcinoma. 61
32648233 2020
21
Opioid Peptides and Their Receptors in Chickens: Structure, Functionality, and Tissue Distribution. 61
32217145 2020
22
STAT1 transcriptionally regulates the expression of S1PR1 by binding its promoter region. 61
32006593 2020
23
Three Complete Linkage SNPs of GDF9 Gene Affect the Litter Size Probably Mediated by OCT1 in Hu Sheep. 61
32073892 2020
24
Transcriptional Regulation of HMOX1 Gene in Hezuo Tibetan Pigs: Roles of WT1, Sp1, and C/EBPα. 61
32224871 2020
25
Grass carp (Ctenopharyngodon idella) NRF2 alleviates the oxidative stress and enhances cell viability through upregulating the expression of HO-1. 61
31758371 2020
26
Association of human serotonin receptor 4 promoter methylation with autism spectrum disorder. 61
31977880 2020
27
Analysis of potential redundancy among Arabidopsis 6-phosphogluconolactonase isoforms in peroxisomes. 61
31641750 2020
28
Fe3+-Coordinated Multifunctional Elastic Nanoplatform for Effective in Vivo Gene Transfection. 61
31895537 2020
29
Downregulation of miR‑143 modulates KRAS expression in colorectal carcinoma cells. 61
31638218 2019
30
A 14-bp functional deletion within the CMTM2 gene is significantly associated with litter size in goat. 61
31362196 2019
31
The A allele of the UCP2 -866G/A polymorphism changes UCP2 promoter activity in HUVECs treated with high glucose. 61
31218541 2019
32
miR-29a promotes osteoblast proliferation by downregulating DKK-1 expression and activating Wnt/β-catenin signaling pathway. 61
31538414 2019
33
Transcription Factor CEBPB Inhibits the Expression of the Human HTR1A by Binding to 5' Regulatory Region in Vitro. 61
31614865 2019
34
[ADRB2 Gene Knockout in Human Primary T Cells by Multiple sgRNAs Construced using CRISPR/Cas9 Technology]. 61
31607332 2019
35
MiR-145 protected the cell viability of human cerebral cortical neurons after oxygen-glucose deprivation by downregulating EPHA4. 61
31150684 2019
36
Transcriptional regulation of the porcine miR-17-92 cluster. 61
30972482 2019
37
Significant association of EED promoter hypomethylation with colorectal cancer. 61
31423224 2019
38
Relationship between porcine miR-20a and its putative target low-density lipoprotein receptor based on dual luciferase reporter gene assays. 61
30744358 2019
39
Nuclear delivery of plasmid DNA determines the efficiency of gene expression. 61
31042002 2019
40
Androgenic/antiandrogenic activities of PAEs determined by a novel AR-mediated reporter gene assay based on LLC-MK2 cells. 61
31367335 2019
41
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. 61
30913089 2019
42
[Cloning of New Antigen Gene MLAA-34 Promoter and Identification of Core Region in Acute Monocytic Leukemia]. 61
31204911 2019
43
Identification of a promoter element mediating kisspeptin-induced increases in GnRH gene expression in sheep. 61
30853631 2019
44
Immobilization of plasmids in bacterial nanocellulose as gene activated matrix. 61
30732826 2019
45
The Flavonoid Quercetin Induces AP-1 Activation in FRTL-5 Thyroid Cells. 61
31035637 2019
46
Transcriptional Regulation of NAMPT Gene by Glycogen Synthase Kinase 3β in Goat Adipocytes. 61
30615481 2019
47
Insecticides induce the co-expression of glutathione S-transferases through ROS/CncC pathway in Spodoptera exigua. 61
30857628 2019
48
Characterization of the human mucin 5AC promoter and its regulation by the histone acetyltransferase P300. 61
30628655 2019
49
Elovl4a participates in LC-PUFA biosynthesis and is regulated by PPARαβ in golden pompano Trachinotus ovatus (Linnaeus 1758). 61
30886313 2019
50
Significant association between KDM1A promoter hypomethylation and colorectal cancer in Han Chinese. 61
30638951 2019

Variations for Paragangliomas 3

ClinVar genetic disease variations for Paragangliomas 3:

6 (show top 50) (show all 262)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SDHC NM_003001.5(SDHC):c.3G>A (p.Met1Ile) SNV Pathogenic 7241 rs587776652 1:161284198-161284198 1:161314408-161314408
2 SDHC NM_003001.3(SDHC):c.405+1G>T SNV Pathogenic 7242 rs587776653 1:161326631-161326631 1:161356841-161356841
3 CFAP126 NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA Indel Pathogenic 7243 1:161336986-161339990 1:161367196-161370200
4 SDHC NM_003001.3(SDHC):c.406-?_*2318+?del Deletion Pathogenic 239456
5 SDHC NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) SNV Pathogenic 183753 rs764575966 1:161326622-161326622 1:161356832-161356832
6 SDHC NM_003001.5(SDHC):c.1A>G (p.Met1Val) SNV Pathogenic 407060 rs755235380 1:161284196-161284196 1:161314406-161314406
7 SDHC NC_000001.11:g.(?_161356677)_(161356840_?)del Deletion Pathogenic 417389 1:161326467-161326630 1:161356677-161356840
8 SDHC NM_003001.5(SDHC):c.215del (p.Arg72fs) Deletion Pathogenic 534368 rs1553264218 1:161310419-161310419 1:161340629-161340629
9 SDHC NC_000001.11:g.(?_161314400)_(161362439_?)del Deletion Pathogenic 534384 1:161284190-161332229 1:161314400-161362439
10 SDHC NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) SNV Pathogenic 183753 rs764575966 1:161326622-161326622 1:161356832-161356832
11 SDHC NM_003001.5(SDHC):c.1A>G (p.Met1Val) SNV Pathogenic 407060 rs755235380 1:161284196-161284196 1:161314406-161314406
12 SDHC NC_000001.11:g.(?_161356667)_(161356850_?)del Deletion Pathogenic 644840 1:161326457-161326640 1:161356667-161356850
13 SDHC NC_000001.11:g.(?_161356667)_(161362443_?)del Deletion Pathogenic 650709 1:161326457-161332233 1:161356667-161362443
14 SDHC NM_003001.5(SDHC):c.1A>T (p.Met1Leu) SNV Pathogenic 653751 rs755235380 1:161284196-161284196 1:161314406-161314406
15 SDHC NM_003001.5(SDHC):c.3G>A (p.Met1Ile) SNV Pathogenic 7241 rs587776652 1:161284198-161284198 1:161314408-161314408
16 SDHC NC_000001.11:g.(?_161323604)_(161328507_?)del Deletion Pathogenic 831126 1:161293394-161298297
17 SDHC NC_000001.11:g.(?_161314368)_(161362518_?)del Deletion Pathogenic 831911 1:161284158-161332308
18 SDHC NC_000001.11:g.(?_161340584)_(161356850_?)del Deletion Pathogenic 833142 1:161310374-161326640
19 SDHC NM_003001.5(SDHC):c.183del (p.Trp61fs) Deletion Pathogenic 851539 1:161310386-161310386 1:161340596-161340596
20 SDHC NM_003001.5(SDHC):c.247dup (p.Ser83fs) Duplication Pathogenic 853482 1:161326471-161326472 1:161356681-161356682
21 SDHC NM_003001.5(SDHC):c.86del (p.Pro29fs) Deletion Pathogenic 858738 1:161298193-161298193 1:161328403-161328403
22 SDHC NM_003001.5(SDHC):c.349_350del (p.Lys117fs) Deletion Pathogenic 934045 1:161326574-161326575 1:161356784-161356785
23 SDHC NM_003001.5(SDHC):c.175del (p.Tyr59fs) Deletion Pathogenic 959675 1:161298283-161298283 1:161328493-161328493
24 SDHC NM_003001.3(SDHC):c.405+1G>A SNV Pathogenic 7244 rs587776653 1:161326631-161326631 1:161356841-161356841
25 SDHC NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) SNV Pathogenic 978229 1:161326611-161326611 1:161356821-161356821
26 SDHC NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) SNV Pathogenic 41776 rs201286421 1:161293426-161293426 1:161323636-161323636
27 SDHC NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) SNV Pathogenic 428933 rs898854295 1:161326602-161326602 1:161356812-161356812
28 SDHC NM_003001.5(SDHC):c.380A>G (p.His127Arg) SNV Pathogenic 187084 rs786203457 1:161326605-161326605 1:161356815-161356815
29 SDHC NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) SNV Pathogenic 41776 rs201286421 1:161293426-161293426 1:161323636-161323636
30 SDHC NM_003001.3(SDHC):c.21-2A>G SNV Likely pathogenic 428936 rs1131691062 1:161293402-161293402 1:161323612-161323612
31 SDHC NM_003001.5(SDHC):c.171_179+15del Deletion Likely pathogenic 968515 1:161298279-161298302 1:161328489-161328512
32 SDHC NM_003001.5(SDHC):c.2T>G (p.Met1Arg) SNV Likely pathogenic 968839 1:161284197-161284197 1:161314407-161314407
33 SDHC NM_003001.5(SDHC):c.77+1G>A SNV Likely pathogenic 827209 rs1558164647 1:161293461-161293461 1:161323671-161323671
34 SDHC NM_003001.3(SDHC):c.179+1G>C SNV Likely pathogenic 372501 rs1057517818 1:161298288-161298288 1:161328498-161328498
35 SDHC NM_003001.5(SDHC):c.379C>T (p.His127Tyr) SNV Likely pathogenic 835716 1:161326604-161326604 1:161356814-161356814
36 SDHC NC_000001.11:g.(?_161340584)_(161340665_?)dup Duplication Likely pathogenic 830390 1:161310374-161310455
37 SDHC NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) SNV Likely pathogenic 653952 rs756676111 1:161310418-161310418 1:161340628-161340628
38 SDHC NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) SNV Likely pathogenic 135194 rs587778661 1:161298256-161298256 1:161328466-161328466
39 SDHC NC_000001.10:g.(?_161310384)_(161310445_?)dup Duplication Likely pathogenic 417394 1:161310384-161310445 1:161340594-161340655
40 SDHC NM_003001.3(SDHC):c.78-1G>T SNV Likely pathogenic 534370 rs786202200 1:161298185-161298185 1:161328395-161328395
41 SDHC NM_003001.3(SDHC):c.405+1G>T SNV Likely pathogenic 7242 rs587776653 1:161326631-161326631 1:161356841-161356841
42 SDHC NM_003001.3(SDHC):c.405+1G>C SNV Likely pathogenic 428934 rs587776653 1:161326631-161326631 1:161356841-161356841
43 SDHC NM_003001.3(SDHC):c.405+1del Deletion Likely pathogenic 570507 rs1558182956 1:161326630-161326630 1:161356840-161356840
44 SDHC NM_003001.5(SDHC):c.329C>T (p.Pro110Leu) SNV Uncertain significance 571588 rs776485432 1:161326554-161326554 1:161356764-161356764
45 SDHC NM_003001.5(SDHC):c.451T>C (p.Ser151Pro) SNV Uncertain significance 571904 rs1558185927 1:161332164-161332164 1:161362374-161362374
46 SDHC NM_003001.5(SDHC):c.454G>A (p.Gly152Arg) SNV Uncertain significance 572810 rs1558185932 1:161332167-161332167 1:161362377-161362377
47 SDHC NM_003001.5(SDHC):c.197C>G (p.Ala66Gly) SNV Uncertain significance 572916 rs760572684 1:161310401-161310401 1:161340611-161340611
48 SDHC NM_003001.5(SDHC):c.476C>T (p.Thr159Ile) SNV Uncertain significance 573194 rs773923942 1:161332189-161332189 1:161362399-161362399
49 SDHC NM_003001.5(SDHC):c.38G>T (p.Cys13Phe) SNV Uncertain significance 573214 rs1558164528 1:161293421-161293421 1:161323631-161323631
50 SDHC NM_003001.5(SDHC):c.118C>G (p.Arg40Gly) SNV Uncertain significance 573349 rs978019587 1:161298226-161298226 1:161328436-161328436

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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