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

PGL3 MCID: PRG020 MIFTS: 39	Paragangliomas 3 (PGL3) Categories: Cancer diseases, Ear diseases, Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 605373

OMIM Phenotypic Series ⁵⁶ PS168000

MeSH ⁴³ D010235

MedGen ⁴¹ C1854336

UMLS ⁷¹ C1854336

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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

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Related Diseases for Paragangliomas 3

Diseases in the Paraganglioma family:

Paragangliomas 4	Paragangliomas 1
Paragangliomas 2	Paragangliomas 3
Paragangliomas 5	Paragangliomas 6
Paragangliomas 7	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	31.4	SDHC MPZ
2	paragangliomas 4	10.2
3	paragangliomas 1	10.2
4	paragangliomas 2	10.2
5	posttransplant acute limbic encephalitis	10.2
6	paraganglioma	9.8
7	pelizaeus-merzbacher disease	9.5	SDHC MPZ
8	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	9.4	SDHC MPZ
9	charcot-marie-tooth disease	9.2	SDHC MPZ

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

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Symptoms & Phenotypes for Paragangliomas 3

Human phenotypes related to Paragangliomas 3:

³¹ (show all 16)

#	Description	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

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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

MalaCards organs/tissues related to Paragangliomas 3:

⁴⁰

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

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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	Baysal BE...Ferrell RE	15342702	2004
2	Mutations in SDHC cause autosomal dominant paraganglioma, type 3. ⁵⁶ ⁶	Niemann S...Muller U	11062460	2000
3	Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. ⁶ ⁶¹	Niemann S...Lohse P	12658451	2003
4	Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. ⁵⁶ ⁶¹	Niemann S...Muller U	11426453	2001
5	PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma. ⁵⁶ ⁶¹	Niemann S...Muller U	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	Kalia SS...Miller DT	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	Hampel H...Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee	25394175	2015
8	ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ⁶	ACMG Board of Directors	25356965	2015
9	Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. ⁶	Lenders JW...Endocrine Society	24893135	2014
10	Canadian guideline on genetic screening for hereditary renal cell cancers. ⁶	Reaume MN...Kidney Cancer Research Network of Canada	24319509	2013
11	ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ⁶	Green RC...American College of Medical Genetics and Genomics	23788249	2013
12	High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. ⁵⁶	Hensen EF...Bayley JP	21348866	2012
13	Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. ⁶	Rubinstein WS	20816580	2010
14	American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. ⁶	Robson ME...American Society of Clinical Oncology	20065170	2010
15	Hereditary Paraganglioma-Pheochromocytoma Syndromes ⁶	Else T...Fishbein L	20301715	2008
16	Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. ⁵⁶	Schiavi F...European-American Paraganglioma Study Group	16249420	2005
17	Opioid Peptides and Their Receptors in Chickens: Structure, Functionality, and Tissue Distribution. ⁶¹	Bu G...Wang Y	32217145	2020
18	Guanidyl and imidazolyl integration group-modified PAMAM for gastric adenocarcinoma gene therapy. ⁶¹	Wang D...Liu M	32558063	2020
19	Three Complete Linkage SNPs of GDF9 Gene Affect the Litter Size Probably Mediated by OCT1 in Hu Sheep. ⁶¹	Li Y...Cao S	32073892	2020
20	STAT1 transcriptionally regulates the expression of S1PR1 by binding its promoter region. ⁶¹	Xin Q...Liu Q	32006593	2020
21	Transcriptional Regulation of HMOX1 Gene in Hezuo Tibetan Pigs: Roles of WT1, Sp1, and C/EBPα. ⁶¹	Wang W...Gun S	32224871	2020
22	Grass carp (Ctenopharyngodon idella) NRF2 alleviates the oxidative stress and enhances cell viability through upregulating the expression of HO-1. ⁶¹	Chen X...Hu C	31758371	2020
23	Association of human serotonin receptor 4 promoter methylation with autism spectrum disorder. ⁶¹	Hu Z...Duan S	31977880	2020
24	Analysis of potential redundancy among Arabidopsis 6-phosphogluconolactonase isoforms in peroxisomes. ⁶¹	Lansing H...Schaewen AV	31641750	2020
25	Fe3+-Coordinated Multifunctional Elastic Nanoplatform for Effective in Vivo Gene Transfection. ⁶¹	Zhang M...Liu K	31895537	2020
26	Downregulation of miR‑143 modulates KRAS expression in colorectal carcinoma cells. ⁶¹	Liu H...Yang Y	31638218	2019
27	A 14-bp functional deletion within the CMTM2 gene is significantly associated with litter size in goat. ⁶¹	Kang Z...Pan C	31362196	2019
28	The A allele of the UCP2 -866G/A polymorphism changes UCP2 promoter activity in HUVECs treated with high glucose. ⁶¹	Crispim D...de Souza BM	31218541	2019
29	miR-29a promotes osteoblast proliferation by downregulating DKK-1 expression and activating Wnt/β-catenin signaling pathway. ⁶¹	Zhang F...Yin Z	31538414	2019
30	Transcription Factor CEBPB Inhibits the Expression of the Human HTR1A by Binding to 5' Regulatory Region in Vitro. ⁶¹	Liu YP...Wang BJ	31614865	2019
31	[ADRB2 Gene Knockout in Human Primary T Cells by Multiple sgRNAs Construced using CRISPR/Cas9 Technology]. ⁶¹	Sun Y...Zheng JN	31607332	2019
32	Significant association of EED promoter hypomethylation with colorectal cancer. ⁶¹	Ying X...Duan S	31423224	2019
33	Transcriptional regulation of the porcine miR-17-92 cluster. ⁶¹	Yang XQ...Liu D	30972482	2019
34	MiR-145 protected the cell viability of human cerebral cortical neurons after oxygen-glucose deprivation by downregulating EPHA4. ⁶¹	Cai...He W	31150684	2019
35	Relationship between porcine miR-20a and its putative target low-density lipoprotein receptor based on dual luciferase reporter gene assays. ⁶¹	Ding Y...Yin Z	30744358	2019
36	Androgenic/antiandrogenic activities of PAEs determined by a novel AR-mediated reporter gene assay based on LLC-MK2 cells. ⁶¹	Ma X...Huang X	31367335	2019
37	Nuclear delivery of plasmid DNA determines the efficiency of gene expression. ⁶¹	Liu H...Ding P	31042002	2019
38	[Cloning of New Antigen Gene MLAA-34 Promoter and Identification of Core Region in Acute Monocytic Leukemia]. ⁶¹	Lei B...Bai J	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	Vanoli A...Paulli M	30913089	2019
40	Identification of a promoter element mediating kisspeptin-induced increases in GnRH gene expression in sheep. ⁶¹	Li Z...Liu X	30853631	2019
41	The Flavonoid Quercetin Induces AP-1 Activation in FRTL-5 Thyroid Cells. ⁶¹	Giuliani C	31035637	2019
42	Immobilization of plasmids in bacterial nanocellulose as gene activated matrix. ⁶¹	Potzinger Y...Fischer D	30732826	2019
43	Characterization of the human mucin 5AC promoter and its regulation by the histone acetyltransferase P300. ⁶¹	Xu S...Li L	30628655	2019
44	Elovl4a participates in LC-PUFA biosynthesis and is regulated by PPARαβ in golden pompano Trachinotus ovatus (Linnaeus 1758). ⁶¹	Zhu KC...Zhang DC	30886313	2019
45	Significant association between KDM1A promoter hypomethylation and colorectal cancer in Han Chinese. ⁶¹	Zhong J...Duan S	30638951	2019
46	Insecticides induce the co-expression of glutathione S-transferases through ROS/CncC pathway in Spodoptera exigua. ⁶¹	Hu B...Su J	30857628	2019
47	Transcriptional Regulation of NAMPT Gene by Glycogen Synthase Kinase 3β in Goat Adipocytes. ⁶¹	Wang L...Zhang H	30615481	2019
48	[Ubiquitin specific peptidase 22 regulates the transcription activity of mitogen-activated protein kinase kinase 6 gene]. ⁶¹	Liu J...Xiong J	30837379	2019
49	Long non-coding RNA AFAP1-AS1 promoting epithelial-mesenchymal transition of endometriosis is correlated with transcription factor ZEB1. ⁶¹	Lin D...Chen Q	30506548	2019
50	Estrogen stimulates SREBP2 expression in hepatic cell lines via an estrogen response element in the SREBP2 promoter. ⁶¹	Meng Y...Zong L	31827541	2019

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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	1019.35	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	15342702 24893135 20065170 (more) 24319509 12658451 25394175 11062460 20301715 27854360 20816580 23788249 25356965
2	MPZ	Myelin Protein Zero	Protein Coding	6.93	GeneCards inferred via : Variants (show sections)

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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_?)del	deletion	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_?)del	deletion	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_?)del	deletion	Pathogenic	650709		1:161326457-161332233	1:161356667-161362443
8	SDHC	NC_000001.11:g.(?_161356667)_(161356850_?)del	deletion	Pathogenic	644840		1:161326457-161326640	1:161356667-161356850
9	SDHC	NC_000001.11:g.(?_161314368)_(161362518_?)del	deletion	Pathogenic	831911		1:161284158-161332308
10	SDHC	NC_000001.11:g.(?_161340584)_(161356850_?)del	deletion	Pathogenic	833142		1:161310374-161326640
11	SDHC	NC_000001.11:g.(?_161323604)_(161328507_?)del	deletion	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 DEL	deletion	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+?del	deletion	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>T	SNV	Pathogenic/Likely pathogenic	7242	rs587776653	1:161326631-161326631	1:161356841-161356841
22	SDHC	NM_003001.3(SDHC):c.405+1G>C	SNV	Pathogenic/Likely pathogenic	428934	rs587776653	1:161326631-161326631	1:161356841-161356841
23	SDHC	NC_000001.10:g.(?_161310384)_(161310445_?)dup	duplication	Likely pathogenic	417394		1:161310384-161310445	1:161340594-161340655
24	SDHC	NM_003001.3(SDHC):c.78-1G>T	SNV	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+1del	deletion	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_?)dup	duplication	Likely pathogenic	830390		1:161310374-161310455
29	SDHC	NM_003001.3(SDHC):c.179+1G>C	SNV	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>T	SNV	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>G	SNV	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

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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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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Paragangliomas 3 (PGL3)

Aliases & Classifications for Paragangliomas 3

MalaCards integrated aliases for Paragangliomas 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Paragangliomas 3

Related Diseases for Paragangliomas 3

Diseases in the Paraganglioma family:

Diseases related to Paragangliomas 3 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Paragangliomas 3

Human phenotypes related to Paragangliomas 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Paragangliomas 3:

MGI Mouse Phenotypes related to Paragangliomas 3:

Drugs & Therapeutics for Paragangliomas 3

Genetic Tests for Paragangliomas 3

Genetic tests related to Paragangliomas 3:

Anatomical Context for Paragangliomas 3

MalaCards organs/tissues related to Paragangliomas 3:

Publications for Paragangliomas 3

Articles related to Paragangliomas 3:

Genes for Paragangliomas 3

Genes related to Paragangliomas 3 (1 elite genes):

Variations for Paragangliomas 3

ClinVar genetic disease variations for Paragangliomas 3:

Expression for Paragangliomas 3

Pathways for Paragangliomas 3

GO Terms for Paragangliomas 3

Sources for Paragangliomas 3