Paragangliomas 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRG020 MIFTS: 24	Paragangliomas 3 Categories: Genetic diseases, Rare diseases, Ear diseases, Endocrine diseases, Cancer diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Ear diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 605373

MedGen ⁴² C1854336

MeSH ⁴⁴ D010235

UMLS ⁷³ C1854336

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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

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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
1	hereditary paraganglioma-pheochromocytoma syndromes	11.1
2	paragangliomas 1	9.7
3	paraganglioma	9.7

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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 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

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Drugs & Therapeutics for Paragangliomas 3

Search Clinical Trials , NIH Clinical Center for Paragangliomas 3

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Genetic Tests for Paragangliomas 3

Genetic tests related to Paragangliomas 3:

#	Genetic test	Affiliating Genes
1	Paragangliomas 3 ²⁹	SDHC

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Anatomical Context for Paragangliomas 3

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Publications for Paragangliomas 3

Articles related to Paragangliomas 3:

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

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Genes for Paragangliomas 3

Genes related to Paragangliomas 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	1054.01	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	15342702 20301715 20065170 (more) 20816580 23788249 24893135 25394175 24319509 25356965 27854360 12658451 11062460

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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

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Expression for Paragangliomas 3

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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