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 56 52 73 29 13 6 71
Pgl3 56 52 73
Glomus Tumors, Familial, 3 56 52
Sdhc-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 52
Familial Non-Chromaffin Paragangliomas 3 73
Glomus Tumors Familial 3 73
Paragangliomas, Type 3 39

Characteristics:

OMIM:

56
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 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 cranial nerve paralysis and hyperhidrosis

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 cranial nerve paralysis 31 HP:0006824
2 hyperhidrosis 31 HP:0000975
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:

56
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

MGI Mouse Phenotypes related to Paragangliomas 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 MPZ SDHC

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

Publications for Paragangliomas 3

Articles related to Paragangliomas 3:

(show top 50) (show all 768)
# Title Authors PMID Year
1
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. 56 6
15342702 2004
2
Mutations in SDHC cause autosomal dominant paraganglioma, type 3. 56 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. 56 61
11426453 2001
5
PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma. 56 61
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. 6
27854360 2017
7
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. 6
25394175 2015
8
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
9
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 6
24893135 2014
10
Canadian guideline on genetic screening for hereditary renal cell cancers. 6
24319509 2013
11
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
12
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 56
21348866 2012
13
Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. 6
20816580 2010
14
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 6
20065170 2010
15
Hereditary Paraganglioma-Pheochromocytoma Syndromes 6
20301715 2008
16
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. 56
16249420 2005
17
Opioid Peptides and Their Receptors in Chickens: Structure, Functionality, and Tissue Distribution. 61
32217145 2020
18
Guanidyl and imidazolyl integration group-modified PAMAM for gastric adenocarcinoma gene therapy. 61
32558063 2020
19
Three Complete Linkage SNPs of GDF9 Gene Affect the Litter Size Probably Mediated by OCT1 in Hu Sheep. 61
32073892 2020
20
STAT1 transcriptionally regulates the expression of S1PR1 by binding its promoter region. 61
32006593 2020
21
Transcriptional Regulation of HMOX1 Gene in Hezuo Tibetan Pigs: Roles of WT1, Sp1, and C/EBPα. 61
32224871 2020
22
Grass carp (Ctenopharyngodon idella) NRF2 alleviates the oxidative stress and enhances cell viability through upregulating the expression of HO-1. 61
31758371 2020
23
Association of human serotonin receptor 4 promoter methylation with autism spectrum disorder. 61
31977880 2020
24
Analysis of potential redundancy among Arabidopsis 6-phosphogluconolactonase isoforms in peroxisomes. 61
31641750 2020
25
Fe3+-Coordinated Multifunctional Elastic Nanoplatform for Effective in Vivo Gene Transfection. 61
31895537 2020
26
Downregulation of miR‑143 modulates KRAS expression in colorectal carcinoma cells. 61
31638218 2019
27
A 14-bp functional deletion within the CMTM2 gene is significantly associated with litter size in goat. 61
31362196 2019
28
The A allele of the UCP2 -866G/A polymorphism changes UCP2 promoter activity in HUVECs treated with high glucose. 61
31218541 2019
29
miR-29a promotes osteoblast proliferation by downregulating DKK-1 expression and activating Wnt/β-catenin signaling pathway. 61
31538414 2019
30
Transcription Factor CEBPB Inhibits the Expression of the Human HTR1A by Binding to 5' Regulatory Region in Vitro. 61
31614865 2019
31
[ADRB2 Gene Knockout in Human Primary T Cells by Multiple sgRNAs Construced using CRISPR/Cas9 Technology]. 61
31607332 2019
32
Significant association of EED promoter hypomethylation with colorectal cancer. 61
31423224 2019
33
Transcriptional regulation of the porcine miR-17-92 cluster. 61
30972482 2019
34
MiR-145 protected the cell viability of human cerebral cortical neurons after oxygen-glucose deprivation by downregulating EPHA4. 61
31150684 2019
35
Relationship between porcine miR-20a and its putative target low-density lipoprotein receptor based on dual luciferase reporter gene assays. 61
30744358 2019
36
Androgenic/antiandrogenic activities of PAEs determined by a novel AR-mediated reporter gene assay based on LLC-MK2 cells. 61
31367335 2019
37
Nuclear delivery of plasmid DNA determines the efficiency of gene expression. 61
31042002 2019
38
[Cloning of New Antigen Gene MLAA-34 Promoter and Identification of Core Region in Acute Monocytic Leukemia]. 61
31204911 2019
39
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
40
Identification of a promoter element mediating kisspeptin-induced increases in GnRH gene expression in sheep. 61
30853631 2019
41
The Flavonoid Quercetin Induces AP-1 Activation in FRTL-5 Thyroid Cells. 61
31035637 2019
42
Immobilization of plasmids in bacterial nanocellulose as gene activated matrix. 61
30732826 2019
43
Characterization of the human mucin 5AC promoter and its regulation by the histone acetyltransferase P300. 61
30628655 2019
44
Elovl4a participates in LC-PUFA biosynthesis and is regulated by PPARαβ in golden pompano Trachinotus ovatus (Linnaeus 1758). 61
30886313 2019
45
Significant association between KDM1A promoter hypomethylation and colorectal cancer in Han Chinese. 61
30638951 2019
46
Insecticides induce the co-expression of glutathione S-transferases through ROS/CncC pathway in Spodoptera exigua. 61
30857628 2019
47
Transcriptional Regulation of NAMPT Gene by Glycogen Synthase Kinase 3β in Goat Adipocytes. 61
30615481 2019
48
[Ubiquitin specific peptidase 22 regulates the transcription activity of mitogen-activated protein kinase kinase 6 gene]. 61
30837379 2019
49
Long non-coding RNA AFAP1-AS1 promoting epithelial-mesenchymal transition of endometriosis is correlated with transcription factor ZEB1. 61
30506548 2019
50
Estrogen stimulates SREBP2 expression in hepatic cell lines via an estrogen response element in the SREBP2 promoter. 61
31827541 2019

Variations for Paragangliomas 3

ClinVar genetic disease variations for Paragangliomas 3:

6 (show top 50) (show all 217) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SDHC NC_000001.11:g.(?_161356677)_(161356840_?)deldeletion Pathogenic 417389 1:161326467-161326630 1:161356677-161356840
2 SDHC NM_003001.5(SDHC):c.1A>G (p.Met1Val)SNV Pathogenic 407060 rs755235380 1:161284196-161284196 1:161314406-161314406
3 SDHC NC_000001.11:g.(?_161314400)_(161362439_?)deldeletion Pathogenic 534384 1:161284190-161332229 1:161314400-161362439
4 SDHC NM_003001.5(SDHC):c.215del (p.Arg72fs)deletion Pathogenic 534368 rs1553264218 1:161310419-161310419 1:161340629-161340629
5 deletion Pathogenic 559476
6 SDHC NM_003001.5(SDHC):c.1A>T (p.Met1Leu)SNV Pathogenic 653751 1:161284196-161284196 1:161314406-161314406
7 SDHC NC_000001.11:g.(?_161356667)_(161362443_?)deldeletion Pathogenic 650709 1:161326457-161332233 1:161356667-161362443
8 SDHC NC_000001.11:g.(?_161356667)_(161356850_?)deldeletion Pathogenic 644840 1:161326457-161326640 1:161356667-161356850
9 SDHC NC_000001.11:g.(?_161314368)_(161362518_?)deldeletion Pathogenic 831911 1:161284158-161332308
10 SDHC NC_000001.11:g.(?_161340584)_(161356850_?)deldeletion Pathogenic 833142 1:161310374-161326640
11 SDHC NC_000001.11:g.(?_161323604)_(161328507_?)deldeletion Pathogenic 831126 1:161293394-161298297
12 SDHC NM_003001.5(SDHC):c.86del (p.Pro29fs)deletion Pathogenic 858738 1:161298193-161298193 1:161328403-161328403
13 SDHC NM_003001.5(SDHC):c.247dup (p.Ser83fs)duplication Pathogenic 853482 1:161326471-161326472 1:161356681-161356682
14 SDHC NM_003001.5(SDHC):c.183del (p.Trp61fs)deletion Pathogenic 851539 1:161310386-161310386 1:161340596-161340596
15 SDHC NM_003001.5(SDHC):c.3G>A (p.Met1Ile)SNV Pathogenic 7241 rs587776652 1:161284198-161284198 1:161314408-161314408
16 SDHC SDHC, 8,372-BP DELdeletion Pathogenic 7243
17 SDHC NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)SNV Pathogenic 41776 rs201286421 1:161293426-161293426 1:161323636-161323636
18 SDHC NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)SNV Pathogenic 183753 rs764575966 1:161326622-161326622 1:161356832-161356832
19 SDHC NM_003001.3(SDHC):c.406-?_*2318+?deldeletion Pathogenic 239456
20 SDHC NM_003001.5(SDHC):c.380A>G (p.His127Arg)SNV Pathogenic/Likely pathogenic 187084 rs786203457 1:161326605-161326605 1:161356815-161356815
21 SDHC NM_003001.3(SDHC):c.405+1G>TSNV Pathogenic/Likely pathogenic 7242 rs587776653 1:161326631-161326631 1:161356841-161356841
22 SDHC NM_003001.3(SDHC):c.405+1G>CSNV Pathogenic/Likely pathogenic 428934 rs587776653 1:161326631-161326631 1:161356841-161356841
23 SDHC NC_000001.10:g.(?_161310384)_(161310445_?)dupduplication Likely pathogenic 417394 1:161310384-161310445 1:161340594-161340655
24 SDHC NM_003001.3(SDHC):c.78-1G>TSNV Likely pathogenic 534370 rs786202200 1:161298185-161298185 1:161328395-161328395
25 SDHC NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)SNV Likely pathogenic 653952 1:161310418-161310418 1:161340628-161340628
26 SDHC NM_003001.3(SDHC):c.405+1deldeletion Likely pathogenic 570507 rs1558182956 1:161326630-161326630 1:161356840-161356840
27 SDHC NM_003001.5(SDHC):c.379C>T (p.His127Tyr)SNV Likely pathogenic 835716 1:161326604-161326604 1:161356814-161356814
28 SDHC NC_000001.11:g.(?_161340584)_(161340665_?)dupduplication Likely pathogenic 830390 1:161310374-161310455
29 SDHC NM_003001.3(SDHC):c.179+1G>CSNV Likely pathogenic 372501 rs1057517818 1:161298288-161298288 1:161328498-161328498
30 SDHC NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)SNV Conflicting interpretations of pathogenicity 232892 rs200761743 1:161293437-161293437 1:161323647-161323647
31 SDHC NM_003001.5(SDHC):c.405+23C>TSNV Conflicting interpretations of pathogenicity 239455 rs373731336 1:161326653-161326653 1:161356863-161356863
32 SDHC NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)SNV Conflicting interpretations of pathogenicity 135194 rs587778661 1:161298256-161298256 1:161328466-161328466
33 SDHC NM_003001.5(SDHC):c.165C>T (p.His55=)SNV Conflicting interpretations of pathogenicity 185317 rs786202080 1:161298273-161298273 1:161328483-161328483
34 SDHC NM_003001.5(SDHC):c.490A>T (p.Met164Leu)SNV Conflicting interpretations of pathogenicity 184146 rs200375156 1:161332203-161332203 1:161362413-161362413
35 SDHC NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)SNV Conflicting interpretations of pathogenicity 189841 rs786205147 1:161310428-161310428 1:161340638-161340638
36 SDHC NM_003001.5(SDHC):c.420A>G (p.Gly140=)SNV Conflicting interpretations of pathogenicity 198154 rs794727791 1:161332133-161332133 1:161362343-161362343
37 SDHC NM_003001.5(SDHC):c.490A>G (p.Met164Val)SNV Conflicting interpretations of pathogenicity 570201 rs200375156 1:161332203-161332203 1:161362413-161362413
38 SDHC NM_003001.5(SDHC):c.99G>A (p.Thr33=)SNV Conflicting interpretations of pathogenicity 486428 rs145535502 1:161298207-161298207 1:161328417-161328417
39 SDHC NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)SNV Conflicting interpretations of pathogenicity 428933 rs898854295 1:161326602-161326602 1:161356812-161356812
40 SDHC NM_003001.5(SDHC):c.264G>A (p.Ser88=)SNV Conflicting interpretations of pathogenicity 465969 rs1277488324 1:161326489-161326489 1:161356699-161356699
41 SDHC NM_003001.5(SDHC):c.4G>A (p.Ala2Thr)SNV Uncertain significance 465977 rs1198315342 1:161284199-161284199 1:161314409-161314409
42 SDHC NM_003001.5(SDHC):c.149G>T (p.Arg50Leu)SNV Uncertain significance 465961 rs769177037 1:161298257-161298257 1:161328467-161328467
43 SDHC NM_003001.5(SDHC):c.221C>T (p.Thr74Ile)SNV Uncertain significance 465964 rs1332910409 1:161310425-161310425 1:161340635-161340635
44 SDHC NM_003001.3(SDHC):c.241+3A>GSNV Uncertain significance 465966 rs1413662099 1:161310448-161310448 1:161340658-161340658
45 SDHC NM_003001.5(SDHC):c.282G>T (p.Gly94=)SNV Uncertain significance 465970 rs536197277 1:161326507-161326507 1:161356717-161356717
46 SDHC NM_003001.5(SDHC):c.434T>C (p.Ile145Thr)SNV Uncertain significance 486432 rs1553266487 1:161332147-161332147 1:161362357-161362357
47 SDHC NM_003001.5(SDHC):c.61C>G (p.Gln21Glu)SNV Uncertain significance 480864 rs1553261768 1:161293444-161293444 1:161323654-161323654
48 SDHC NM_003001.5(SDHC):c.432G>T (p.Lys144Asn)SNV Uncertain significance 465974 rs1366410028 1:161332145-161332145 1:161362355-161362355
49 SDHC NM_003001.5(SDHC):c.22C>T (p.His8Tyr)SNV Uncertain significance 465965 rs746666691 1:161293405-161293405 1:161323615-161323615
50 SDHC NM_003001.5(SDHC):c.64C>T (p.Leu22Phe)SNV Uncertain significance 465978 rs1473438869 1:161293447-161293447 1:161323657-161323657

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
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11 DGIdb
17 EFO
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19 FMA
28 GO
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30 HMDB
31 HPO
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33 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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