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PGL3
MCID: PRG020
MIFTS: 30

Paragangliomas 3 (PGL3)

Categories: Cancer diseases, Ear diseases, Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Paragangliomas 3

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MalaCards integrated aliases for Paragangliomas 3:

Name: Paragangliomas 3 58 54 76 30 13 6 74
Pgl3 58 54 76
Glomus Tumors, Familial, 3 58 54
Sdhc-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 54
Familial Non-Chromaffin Paragangliomas 3 76
Glomus Tumors Familial 3 76
Paragangliomas, Type 3 41

Characteristics:

OMIM:

58
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:

33
paragangliomas 3:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Endocrine diseases Ear diseases
See all MalaCards categories (disease lists)


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Summaries for Paragangliomas 3

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UniProtKB/Swiss-Prot : 76 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 pituitary, testes and thyroid, and related phenotypes are hyperhidrosis and cranial nerve paralysis

Description from OMIM: 605373
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Related Diseases for Paragangliomas 3

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Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 1
Paragangliomas 2 Paragangliomas 3
Paragangliomas 5 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 11.3
2 paragangliomas 4 10.1
3 6-phosphogluconolactonase deficiency 10.1
4 paragangliomas 1 9.8
5 paraganglioma 9.8

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



Diseases related to Paragangliomas 3
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Symptoms & Phenotypes for Paragangliomas 3

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Human phenotypes related to Paragangliomas 3:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 33 HP:0000975
2 cranial nerve paralysis 33 HP:0006824
3 vocal cord paralysis 33 HP:0001605
4 hoarse voice 33 HP:0001609
5 tachycardia 33 HP:0001649
6 palpitations 33 HP:0001962
7 recurrent paroxysmal headache 33 HP:0002331
8 extraadrenal pheochromocytoma 33 HP:0006737
9 adrenal pheochromocytoma 33 HP:0006748
10 episodic paroxysmal anxiety 33 HP:0000740
11 hypertension associated with pheochromocytoma 33 HP:0002640
12 pulsatile tinnitus 33 HP:0008629
13 loss of voice 33 HP:0001686
14 glomus jugular tumor 33 HP:0003001
15 chemodectoma 33 HP:0030074
16 elevated circulating catecholamine level 33 HP:0003334

Symptoms via clinical synopsis from OMIM:

58
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
Voice:
hoarse voice (caused by tumor impingement)
loss of voice

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)

Laboratory Abnormalities:
elevated catecholamines (in patients with pheochromocytoma)

Clinical features from OMIM:

605373

UMLS symptoms related to Paragangliomas 3:


aphonia
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Drugs & Therapeutics for Paragangliomas 3

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Search Clinical Trials , NIH Clinical Center for Paragangliomas 3

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Genetic Tests for Paragangliomas 3

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Genetic tests related to Paragangliomas 3:

# Genetic test Affiliating Genes
1 Paragangliomas 3 30 SDHC
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Anatomical Context for Paragangliomas 3

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MalaCards organs/tissues related to Paragangliomas 3:

42
Pituitary, Testes, Thyroid
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Publications for Paragangliomas 3

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Articles related to Paragangliomas 3:

(show all 22)
# Title Authors Year
1
PGL3 is required for chlorophyll synthesis and impacts leaf senescence in rice. ( 29616502 )
2018
2
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. ( 27854360 )
2017
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
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. ( 25394175 )
2015
5
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3). ( 24758179 )
2014
6
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. ( 24893135 )
2014
7
Dual-targeting of Arabidopsis 6-phosphogluconolactonase 3 (PGL3) to chloroplasts and peroxisomes involves interaction with Trx m2 in the cytosol. ( 24008768 )
2014
8
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
9
Canadian guideline on genetic screening for hereditary renal cell cancers. ( 24319509 )
2013
10
A dioxin response element in the multiple cloning site of the pGL3 luciferase reporter influences transcriptional activity. ( 22652426 )
2012
11
Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. ( 20816580 )
2010
12
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. ( 20065170 )
2010
13
Comparison of the responsiveness of the pGL3 and pGL4 luciferase reporter vectors to steroid hormones. ( 16116793 )
2005
14
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. ( 15342702 )
2004
15
Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. ( 12658451 )
2003
16
Aberrant cryptic responsiveness of the pCAT 3- and pGL3-promoter reporter vectors. ( 12951775 )
2003
17
Normalization of transfection efficiency using the beta-lactamase gene of the pGL3 luciferase vector in primary anterior pituitary cells. ( 12188185 )
2002
18
Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. ( 11426453 )
2001
19
An E-box in pGL3 reporter vectors precludes their use for the study of sterol regulatory element-binding proteins. ( 11730028 )
2001
20
Mutations in SDHC cause autosomal dominant paraganglioma, type 3. ( 11062460 )
2000
21
PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma. ( 10541590 )
1999
22
DNA sequence and shuttle vector construction of plasmid pGL3 from Plectonema boryanum PCC 6306. ( 8441688 )
1993
Sources

Variations for Paragangliomas 3

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ClinVar genetic disease variations for Paragangliomas 3:

6 (show top 50) (show all 283)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHC NM_003001.3(SDHC): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776652 GRCh37 Chromosome 1, 161284198: 161284198
2 SDHC NM_003001.3(SDHC): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776652 GRCh38 Chromosome 1, 161314408: 161314408
3 SDHC NM_003001.3(SDHC): c.405+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
4 SDHC NM_003001.3(SDHC): c.405+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh38 Chromosome 1, 161356841: 161356841
5 SDHC SDHC, 8,372-BP DEL deletion Pathogenic
6 SDHC NM_003001.3(SDHC): c.*84G> C single nucleotide variant Benign/Likely benign rs201210474 GRCh37 Chromosome 1, 161332307: 161332307
7 SDHC NM_003001.3(SDHC): c.*84G> C single nucleotide variant Benign/Likely benign rs201210474 GRCh38 Chromosome 1, 161362517: 161362517
8 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh37 Chromosome 1, 161293426: 161293426
9 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh38 Chromosome 1, 161323636: 161323636
10 SDHC NM_003001.3(SDHC): c.148C> T (p.Arg50Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587778661 GRCh38 Chromosome 1, 161328466: 161328466
11 SDHC NM_003001.3(SDHC): c.148C> T (p.Arg50Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587778661 GRCh37 Chromosome 1, 161298256: 161298256
12 SDHC NM_003001.3(SDHC): c.*20T> G single nucleotide variant Uncertain significance rs587778662 GRCh38 Chromosome 1, 161362453: 161362453
13 SDHC NM_003001.3(SDHC): c.*20T> G single nucleotide variant Uncertain significance rs587778662 GRCh37 Chromosome 1, 161332243: 161332243
14 SDHC NM_003001.3(SDHC): c.292T> G (p.Ser98Ala) single nucleotide variant Uncertain significance rs371462564 GRCh37 Chromosome 1, 161326517: 161326517
15 SDHC NM_003001.3(SDHC): c.292T> G (p.Ser98Ala) single nucleotide variant Uncertain significance rs371462564 GRCh38 Chromosome 1, 161356727: 161356727
16 SDHC NM_003001.3(SDHC): c.436C> A (p.Pro146Thr) single nucleotide variant Uncertain significance rs541660851 GRCh37 Chromosome 1, 161332149: 161332149
17 SDHC NM_003001.3(SDHC): c.436C> A (p.Pro146Thr) single nucleotide variant Uncertain significance rs541660851 GRCh38 Chromosome 1, 161362359: 161362359
18 SDHC NM_001035511.1(SDHC): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance rs142139022 GRCh37 Chromosome 1, 161284203: 161284203
19 SDHC NM_001035511.1(SDHC): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance rs142139022 GRCh38 Chromosome 1, 161314413: 161314413
20 SDHC NM_003001.3(SDHC): c.354T> C (p.Phe118=) single nucleotide variant Benign/Likely benign rs61733156 GRCh37 Chromosome 1, 161326579: 161326579
21 SDHC NM_003001.3(SDHC): c.354T> C (p.Phe118=) single nucleotide variant Benign/Likely benign rs61733156 GRCh38 Chromosome 1, 161356789: 161356789
22 SDHC NM_003001.3(SDHC): c.15G> T (p.Leu5Phe) single nucleotide variant Uncertain significance rs771746264 GRCh37 Chromosome 1, 161284210: 161284210
23 SDHC NM_003001.3(SDHC): c.15G> T (p.Leu5Phe) single nucleotide variant Uncertain significance rs771746264 GRCh38 Chromosome 1, 161314420: 161314420
24 SDHC NM_003001.3(SDHC): c.32G> T (p.Arg11Leu) single nucleotide variant Uncertain significance rs767802663 GRCh37 Chromosome 1, 161293415: 161293415
25 SDHC NM_003001.3(SDHC): c.32G> T (p.Arg11Leu) single nucleotide variant Uncertain significance rs767802663 GRCh38 Chromosome 1, 161323625: 161323625
26 SDHC NM_003001.3(SDHC): c.380A> G (p.His127Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786203457 GRCh37 Chromosome 1, 161326605: 161326605
27 SDHC NM_003001.3(SDHC): c.380A> G (p.His127Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786203457 GRCh38 Chromosome 1, 161356815: 161356815
28 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh38 Chromosome 1, 161356832: 161356832
29 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh37 Chromosome 1, 161326622: 161326622
30 SDHC NM_003001.3(SDHC): c.402C> T (p.His134=) single nucleotide variant Likely benign rs754213041 GRCh37 Chromosome 1, 161326627: 161326627
31 SDHC NM_003001.3(SDHC): c.402C> T (p.His134=) single nucleotide variant Likely benign rs754213041 GRCh38 Chromosome 1, 161356837: 161356837
32 SDHC NM_003001.3(SDHC): c.490A> T (p.Met164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200375156 GRCh38 Chromosome 1, 161362413: 161362413
33 SDHC NM_003001.3(SDHC): c.490A> T (p.Met164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200375156 GRCh37 Chromosome 1, 161332203: 161332203
34 SDHC NM_003001.3(SDHC): c.224G> A (p.Gly75Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs786205147 GRCh37 Chromosome 1, 161310428: 161310428
35 SDHC NM_003001.3(SDHC): c.224G> A (p.Gly75Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs786205147 GRCh38 Chromosome 1, 161340638: 161340638
36 SDHC NM_003001.3(SDHC): c.420A> G (p.Gly140=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727791 GRCh37 Chromosome 1, 161332133: 161332133
37 SDHC NM_003001.3(SDHC): c.420A> G (p.Gly140=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727791 GRCh38 Chromosome 1, 161362343: 161362343
38 SDHC NM_003001.3(SDHC): c.6T> C (p.Ala2=) single nucleotide variant Likely benign rs775353334 GRCh37 Chromosome 1, 161284201: 161284201
39 SDHC NM_003001.3(SDHC): c.6T> C (p.Ala2=) single nucleotide variant Likely benign rs775353334 GRCh38 Chromosome 1, 161314411: 161314411
40 SDHC NM_003001.3(SDHC): c.54T> G (p.Phe18Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200761743 GRCh37 Chromosome 1, 161293437: 161293437
41 SDHC NM_003001.3(SDHC): c.54T> G (p.Phe18Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200761743 GRCh38 Chromosome 1, 161323647: 161323647
42 SDHC NM_003001.3(SDHC): c.81T> C (p.Ala27=) single nucleotide variant Likely benign rs876659297 GRCh37 Chromosome 1, 161298189: 161298189
43 SDHC NM_003001.3(SDHC): c.81T> C (p.Ala27=) single nucleotide variant Likely benign rs876659297 GRCh38 Chromosome 1, 161328399: 161328399
44 SDHC NM_003001.3(SDHC): c.406-?_*2318+?del deletion Pathogenic
45 SDHC NM_003001.3(SDHC): c.25G> A (p.Val9Ile) single nucleotide variant Uncertain significance rs774768866 GRCh37 Chromosome 1, 161293408: 161293408
46 SDHC NM_003001.3(SDHC): c.25G> A (p.Val9Ile) single nucleotide variant Uncertain significance rs774768866 GRCh38 Chromosome 1, 161323618: 161323618
47 SDHC NM_003001.3(SDHC): c.32G> A (p.Arg11His) single nucleotide variant Uncertain significance rs767802663 GRCh37 Chromosome 1, 161293415: 161293415
48 SDHC NM_003001.3(SDHC): c.32G> A (p.Arg11His) single nucleotide variant Uncertain significance rs767802663 GRCh38 Chromosome 1, 161323625: 161323625
49 SDHC NM_003001.3(SDHC): c.73A> G (p.Arg25Gly) single nucleotide variant Uncertain significance rs878854587 GRCh37 Chromosome 1, 161293456: 161293456
50 SDHC NM_003001.3(SDHC): c.73A> G (p.Arg25Gly) single nucleotide variant Uncertain significance rs878854587 GRCh38 Chromosome 1, 161323666: 161323666
Sources

Expression for Paragangliomas 3

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Search GEO for disease gene expression data for Paragangliomas 3.
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Pathways for Paragangliomas 3

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GO Terms for Paragangliomas 3

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Sources for Paragangliomas 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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