MCID: PRG020
MIFTS: 24

Paragangliomas 3

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

Aliases & Classifications for Paragangliomas 3

MalaCards integrated aliases for Paragangliomas 3:

Name: Paragangliomas 3 57 53 75 29 13 6 73
Pgl3 57 53 75
Glomus Tumors, Familial, 3 57 53
Sdhc-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 53
Familial Non-Chromaffin Paragangliomas 3 75
Glomus Tumors Familial 3 75
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:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 3

UniProtKB/Swiss-Prot : 75 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 1, and has symptoms including aphonia An important gene associated with Paragangliomas 3 is SDHC (Succinate Dehydrogenase Complex Subunit C). Related phenotypes are hyperhidrosis and cranial nerve paralysis

Description from OMIM: 605373

Related Diseases for Paragangliomas 3

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 11.1
2 paragangliomas 1 9.7
3 paraganglioma 9.7

Symptoms & Phenotypes for Paragangliomas 3

Symptoms via clinical synopsis from OMIM:

57
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

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 hoarse voice 32 HP:0001609
4 vocal cord paralysis 32 HP:0001605
5 tachycardia 32 HP:0001649
6 recurrent paroxysmal headache 32 HP:0002331
7 palpitations 32 HP:0001962
8 extraadrenal pheochromocytoma 32 HP:0006737
9 adrenal pheochromocytoma 32 HP:0006748
10 episodic paroxysmal anxiety 32 HP:0000740
11 hypertension associated with pheochromocytoma 32 HP:0002640
12 pulsatile tinnitus 32 HP:0008629
13 loss of voice 32 HP:0001686
14 glomus jugular tumor 32 HP:0003001
15 chemodectoma 32 HP:0030074
16 elevated circulating catecholamine level 32 HP:0003334

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

Publications for Paragangliomas 3

Articles related to Paragangliomas 3:

# Title Authors Year
1
Nonchromaffin paraganglioma. 3. Glomus jugulare tumors. ( 4338957 )
1972

Variations for Paragangliomas 3

ClinVar genetic disease variations for Paragangliomas 3:

6
(show top 50) (show all 216)
# 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.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh37 Chromosome 1, 161293426: 161293426
7 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh38 Chromosome 1, 161323636: 161323636
8 SDHC NM_003001.3(SDHC): c.148C> T (p.Arg50Cys) single nucleotide variant Likely pathogenic rs587778661 GRCh38 Chromosome 1, 161328466: 161328466
9 SDHC NM_003001.3(SDHC): c.148C> T (p.Arg50Cys) single nucleotide variant Likely pathogenic rs587778661 GRCh37 Chromosome 1, 161298256: 161298256
10 SDHC NM_001035511.1(SDHC): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance rs142139022 GRCh37 Chromosome 1, 161284203: 161284203
11 SDHC NM_001035511.1(SDHC): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance rs142139022 GRCh38 Chromosome 1, 161314413: 161314413
12 SDHC NM_003001.3(SDHC): c.354T> C (p.Phe118=) single nucleotide variant Benign/Likely benign rs61733156 GRCh37 Chromosome 1, 161326579: 161326579
13 SDHC NM_003001.3(SDHC): c.354T> C (p.Phe118=) single nucleotide variant Benign/Likely benign rs61733156 GRCh38 Chromosome 1, 161356789: 161356789
14 SDHC NM_003001.3(SDHC): c.15G> T (p.Leu5Phe) single nucleotide variant Uncertain significance rs771746264 GRCh37 Chromosome 1, 161284210: 161284210
15 SDHC NM_003001.3(SDHC): c.15G> T (p.Leu5Phe) single nucleotide variant Uncertain significance rs771746264 GRCh38 Chromosome 1, 161314420: 161314420
16 SDHC NM_003001.3(SDHC): c.32G> T (p.Arg11Leu) single nucleotide variant Uncertain significance rs767802663 GRCh37 Chromosome 1, 161293415: 161293415
17 SDHC NM_003001.3(SDHC): c.32G> T (p.Arg11Leu) single nucleotide variant Uncertain significance rs767802663 GRCh38 Chromosome 1, 161323625: 161323625
18 SDHC NM_003001.3(SDHC): c.380A> G (p.His127Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786203457 GRCh37 Chromosome 1, 161326605: 161326605
19 SDHC NM_003001.3(SDHC): c.380A> G (p.His127Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786203457 GRCh38 Chromosome 1, 161356815: 161356815
20 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh37 Chromosome 1, 161326622: 161326622
21 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh38 Chromosome 1, 161356832: 161356832
22 SDHC NM_003001.3(SDHC): c.402C> T (p.His134=) single nucleotide variant Likely benign rs754213041 GRCh37 Chromosome 1, 161326627: 161326627
23 SDHC NM_003001.3(SDHC): c.402C> T (p.His134=) single nucleotide variant Likely benign rs754213041 GRCh38 Chromosome 1, 161356837: 161356837
24 SDHC NM_003001.3(SDHC): c.490A> T (p.Met164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200375156 GRCh37 Chromosome 1, 161332203: 161332203
25 SDHC NM_003001.3(SDHC): c.490A> T (p.Met164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200375156 GRCh38 Chromosome 1, 161362413: 161362413
26 SDHC NM_003001.3(SDHC): c.420A> G (p.Gly140=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727791 GRCh37 Chromosome 1, 161332133: 161332133
27 SDHC NM_003001.3(SDHC): c.420A> G (p.Gly140=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727791 GRCh38 Chromosome 1, 161362343: 161362343
28 SDHC NM_003001.3(SDHC): c.6T> C (p.Ala2=) single nucleotide variant Likely benign rs775353334 GRCh37 Chromosome 1, 161284201: 161284201
29 SDHC NM_003001.3(SDHC): c.6T> C (p.Ala2=) single nucleotide variant Likely benign rs775353334 GRCh38 Chromosome 1, 161314411: 161314411
30 SDHC NM_003001.3(SDHC): c.54T> G (p.Phe18Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200761743 GRCh37 Chromosome 1, 161293437: 161293437
31 SDHC NM_003001.3(SDHC): c.54T> G (p.Phe18Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200761743 GRCh38 Chromosome 1, 161323647: 161323647
32 SDHC NM_003001.3(SDHC): c.81T> C (p.Ala27=) single nucleotide variant Likely benign rs876659297 GRCh37 Chromosome 1, 161298189: 161298189
33 SDHC NM_003001.3(SDHC): c.81T> C (p.Ala27=) single nucleotide variant Likely benign rs876659297 GRCh38 Chromosome 1, 161328399: 161328399
34 SDHC NM_003001.3(SDHC): c.406-?_*2318+?del deletion Pathogenic
35 SDHC NM_003001.3(SDHC): c.25G> A (p.Val9Ile) single nucleotide variant Uncertain significance rs774768866 GRCh37 Chromosome 1, 161293408: 161293408
36 SDHC NM_003001.3(SDHC): c.25G> A (p.Val9Ile) single nucleotide variant Uncertain significance rs774768866 GRCh38 Chromosome 1, 161323618: 161323618
37 SDHC NM_003001.3(SDHC): c.32G> A (p.Arg11His) single nucleotide variant Uncertain significance rs767802663 GRCh37 Chromosome 1, 161293415: 161293415
38 SDHC NM_003001.3(SDHC): c.32G> A (p.Arg11His) single nucleotide variant Uncertain significance rs767802663 GRCh38 Chromosome 1, 161323625: 161323625
39 SDHC NM_003001.3(SDHC): c.73A> G (p.Arg25Gly) single nucleotide variant Uncertain significance rs878854587 GRCh37 Chromosome 1, 161293456: 161293456
40 SDHC NM_003001.3(SDHC): c.73A> G (p.Arg25Gly) single nucleotide variant Uncertain significance rs878854587 GRCh38 Chromosome 1, 161323666: 161323666
41 SDHC NM_003001.3(SDHC): c.85C> G (p.Pro29Ala) single nucleotide variant Uncertain significance rs878854588 GRCh37 Chromosome 1, 161298193: 161298193
42 SDHC NM_003001.3(SDHC): c.85C> G (p.Pro29Ala) single nucleotide variant Uncertain significance rs878854588 GRCh38 Chromosome 1, 161328403: 161328403
43 SDHC NM_003001.3(SDHC): c.119G> A (p.Arg40Gln) single nucleotide variant Uncertain significance rs772450693 GRCh37 Chromosome 1, 161298227: 161298227
44 SDHC NM_003001.3(SDHC): c.119G> A (p.Arg40Gln) single nucleotide variant Uncertain significance rs772450693 GRCh38 Chromosome 1, 161328437: 161328437
45 SDHC NM_003001.3(SDHC): c.120G> A (p.Arg40=) single nucleotide variant Likely benign rs36097930 GRCh37 Chromosome 1, 161298228: 161298228
46 SDHC NM_003001.3(SDHC): c.120G> A (p.Arg40=) single nucleotide variant Likely benign rs36097930 GRCh38 Chromosome 1, 161328438: 161328438
47 SDHC NM_003001.3(SDHC): c.128A> G (p.Asn43Ser) single nucleotide variant Uncertain significance rs747349777 GRCh37 Chromosome 1, 161298236: 161298236
48 SDHC NM_003001.3(SDHC): c.128A> G (p.Asn43Ser) single nucleotide variant Uncertain significance rs747349777 GRCh38 Chromosome 1, 161328446: 161328446
49 SDHC NM_003001.3(SDHC): c.164A> G (p.His55Arg) single nucleotide variant Uncertain significance rs878854585 GRCh38 Chromosome 1, 161328482: 161328482
50 SDHC NM_003001.3(SDHC): c.164A> G (p.His55Arg) single nucleotide variant Uncertain significance rs878854585 GRCh37 Chromosome 1, 161298272: 161298272

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

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17 ExPASy
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