Paragangliomas 3 (PGL3)

MalaCards integrated aliases for Paragangliomas 3:

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:

Classifications:

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	11.4
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	9.4	SDHC MPZ
8	charcot-marie-tooth disease	9.2	SDHC MPZ

Genetic tests related to Paragangliomas 3:

#	Genetic test	Affiliating Genes
1	Paragangliomas 3 29	SDHC

Articles related to Paragangliomas 3:

(show top 50) (show all 760)

#	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. 61 6	Niemann S...Lohse P	12658451	2003
4	Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. 61 56	Niemann S...Muller U	11426453	2001
5	PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma. 61 56	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	ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6	ACMG Board of Directors	25356965	2015
8	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
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	Association of human serotonin receptor 4 promoter methylation with autism spectrum disorder. 61	Hu Z...Duan S	31977880	2020
18	Analysis of potential redundancy among Arabidopsis 6-phosphogluconolactonase isoforms in peroxisomes. 61	Lansing H...Schaewen AV	31641750	2020
19	Fe3+-Coordinated Multifunctional Elastic Nanoplatform for Effective in Vivo Gene Transfection. 61	Zhang M...Liu K	31895537	2020
20	Downregulation of miR‑143 modulates KRAS expression in colorectal carcinoma cells. 61	Liu H...Yang Y	31638218	2019
21	A 14-bp functional deletion within the CMTM2 gene is significantly associated with litter size in goat. 61	Kang Z...Pan C	31362196	2019
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	2019
23	miR-29a promotes osteoblast proliferation by downregulating DKK-1 expression and activating Wnt/β-catenin signaling pathway. 61	Zhang F...Yin Z	31538414	2019
24	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
25	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
26	[ADRB2 Gene Knockout in Human Primary T Cells by Multiple sgRNAs Construced using CRISPR/Cas9 Technology]. 61	Sun Y...Zheng JN	31607332	2019
27	Significant association of EED promoter hypomethylation with colorectal cancer. 61	Ying X...Duan S	31423224	2019
28	Transcriptional regulation of the porcine miR-17-92 cluster. 61	Yang XQ...Liu D	30972482	2019
29	MiR-145 protected the cell viability of human cerebral cortical neurons after oxygen-glucose deprivation by downregulating EPHA4. 61	Cai...He W	31150684	2019
30	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
31	Nuclear delivery of plasmid DNA determines the efficiency of gene expression. 61	Liu H...Ding P	31042002	2019
32	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
33	[Cloning of New Antigen Gene MLAA-34 Promoter and Identification of Core Region in Acute Monocytic Leukemia]. 61	Lei B...Bai J	31204911	2019
34	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
35	Identification of a promoter element mediating kisspeptin-induced increases in GnRH gene expression in sheep. 61	Li Z...Liu X	30853631	2019
36	The Flavonoid Quercetin Induces AP-1 Activation in FRTL-5 Thyroid Cells. 61	Giuliani C	31035637	2019
37	Immobilization of plasmids in bacterial nanocellulose as gene activated matrix. 61	Potzinger Y...Fischer D	30732826	2019
38	Characterization of the human mucin 5AC promoter and its regulation by the histone acetyltransferase P300. 61	Xu S...Li L	30628655	2019
39	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
40	Significant association between KDM1A promoter hypomethylation and colorectal cancer in Han Chinese. 61	Zhong J...Duan S	30638951	2019
41	Transcriptional Regulation of NAMPT Gene by Glycogen Synthase Kinase 3β in Goat Adipocytes. 61	Wang L...Zhang H	30615481	2019
42	Insecticides induce the co-expression of glutathione S-transferases through ROS/CncC pathway in Spodoptera exigua. 61	Hu B...Su J	30857628	2019
43	[Ubiquitin specific peptidase 22 regulates the transcription activity of mitogen-activated protein kinase kinase 6 gene]. 61	Liu J...Xiong J	30837379	2019
44	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
45	Identification of a Novel Functional Corticotropin-Releasing Hormone (CRH2) in Chickens and Its Roles in Stimulating Pituitary TSHβ Expression and ACTH Secretion. 61	Bu G...Wang Y	31555213	2019
46	Estrogen stimulates SREBP2 expression in hepatic cell lines via an estrogen response element in the SREBP2 promoter. 61	Meng Y...Zong L	31827541	2019
47	Novel lncRNA lncFAM200B: Molecular Characteristics and Effects of Genetic Variants on Promoter Activity and Cattle Body Measurement Traits. 61	Zhang S...Lan X	31649734	2019
48	Identification of the minimum region of flatfish myostatin propeptide (Pep45-65) for myostatin inhibition and its potential to enhance muscle growth and performance in animals. 61	Kim JH...Jin HJ	30998775	2019
49	Characterization and functional analyses of the human HTR1A gene: 5' regulatory region modulates gene expression in vitro. 61	Wu X...Wang BJ	30594152	2018
50	MiRNA-199a-5p positively regulated RANKL-induced osteoclast differentiation by target Mafb protein. 61	Guo K...Zhu J	30387167	2018

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	1019.38	Molecular basis known 56 Pathogenic 6 Genetic Tests 29 GeneCards inferred via : Disorders Variants (show sections)	25394175 25356965 11062460 (more) 15342702 12658451 20816580 23788249 20065170 24893135 24319509 20301715 27854360
2	MPZ	Myelin Protein Zero	Protein Coding	7.09	GeneCards inferred via : Variants (show sections)

ClinVar genetic disease variations for Paragangliomas 3:

⁶ (show top 50) (show all 154) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SDHC	NM_003001.3(SDHC):c.397C>T (p.Arg133Ter)	SNV	Pathogenic	183753	rs764575966	1:161326622-161326622	1:161356832-161356832
2	SDHC	NM_003001.3(SDHC):c.3G>A (p.Met1Ile)	SNV	Pathogenic	7241	rs587776652	1:161284198-161284198	1:161314408-161314408
3	SDHC	SDHC, 8,372-BP DEL	deletion	Pathogenic	7243
4	SDHC	NM_003001.3(SDHC):c.406-?_*2318+?del	deletion	Pathogenic	239456
5	SDHC	NM_003001.3(SDHC):c.43C>T (p.Arg15Ter)	SNV	Pathogenic	41776	rs201286421	1:161293426-161293426	1:161323636-161323636
6	SDHC	NC_000001.10:g.(?_161326467)_(161326630_?)del	deletion	Pathogenic	417389		1:161326467-161326630	1:161356677-161356840
7	SDHC	NM_003001.3(SDHC):c.1A>G (p.Met1Val)	SNV	Pathogenic	407060	rs755235380	1:161284196-161284196	1:161314406-161314406
8	SDHC	NC_000001.10:g.(?_161284190)_(161332229_?)del	deletion	Pathogenic	534384		1:161284190-161332229	1:161314400-161362439
9			deletion	Pathogenic	559476
10	SDHC	NM_003001.3(SDHC):c.215del (p.Arg72fs)	deletion	Pathogenic	534368	rs1553264218	1:161310419-161310419	1:161340629-161340629
11	SDHC	NC_000001.10:g.(?_161326457)_(161332233_?)del	deletion	Pathogenic	650709		1:161326457-161332233	1:161356667-161362443
12	SDHC	NC_000001.10:g.(?_161326457)_(161326640_?)del	deletion	Pathogenic	644840		1:161326457-161326640	1:161356667-161356850
13	SDHC	NM_003001.3(SDHC):c.405+1G>C	SNV	Pathogenic/Likely pathogenic	428934	rs587776653	1:161326631-161326631	1:161356841-161356841
14	SDHC	NM_003001.3(SDHC):c.405+1G>T	SNV	Pathogenic/Likely pathogenic	7242	rs587776653	1:161326631-161326631	1:161356841-161356841
15	SDHC	NC_000001.10:g.(?_161310384)_(161310445_?)dup	duplication	Likely pathogenic	417394		1:161310384-161310445	1:161340594-161340655
16	SDHC	NM_003001.3(SDHC):c.1A>T (p.Met1Leu)	SNV	Likely pathogenic	653751		1:161284196-161284196	1:161314406-161314406
17	SDHC	NM_003001.3(SDHC):c.214C>T (p.Arg72Cys)	SNV	Likely pathogenic	653952		1:161310418-161310418	1:161340628-161340628
18	SDHC	NM_003001.3(SDHC):c.78-1G>T	SNV	Likely pathogenic	534370	rs786202200	1:161298185-161298185	1:161328395-161328395
19	SDHC	NM_003001.3(SDHC):c.405+1del	deletion	Likely pathogenic	570507	rs1558182956	1:161326630-161326630	1:161356840-161356840
20	SDHC	NM_003001.3(SDHC):c.99G>A (p.Thr33=)	SNV	Conflicting interpretations of pathogenicity	486428	rs145535502	1:161298207-161298207	1:161328417-161328417
21	SDHC	NM_003001.3(SDHC):c.377A>G (p.Tyr126Cys)	SNV	Conflicting interpretations of pathogenicity	428933	rs898854295	1:161326602-161326602	1:161356812-161356812
22	SDHC	NM_003001.3(SDHC):c.224G>A (p.Gly75Asp)	SNV	Conflicting interpretations of pathogenicity	189841	rs786205147	1:161310428-161310428	1:161340638-161340638
23	SDHC	NM_003001.3(SDHC):c.54T>G (p.Phe18Leu)	SNV	Conflicting interpretations of pathogenicity	232892	rs200761743	1:161293437-161293437	1:161323647-161323647
24	SDHC	NM_003001.3(SDHC):c.148C>T (p.Arg50Cys)	SNV	Conflicting interpretations of pathogenicity	135194	rs587778661	1:161298256-161298256	1:161328466-161328466
25	SDHC	NM_003001.3(SDHC):c.380A>G (p.His127Arg)	SNV	Conflicting interpretations of pathogenicity	187084	rs786203457	1:161326605-161326605	1:161356815-161356815
26	SDHC	NM_003001.3(SDHC):c.405+23C>T	SNV	Conflicting interpretations of pathogenicity	239455	rs373731336	1:161326653-161326653	1:161356863-161356863
27	SDHC	NM_003001.3(SDHC):c.398G>A (p.Arg133Gln)	SNV	Uncertain significance	41775	rs386833414	1:161326623-161326623	1:161356833-161356833
28	SDHC	NM_003001.3(SDHC):c.*20T>G	SNV	Uncertain significance	135195	rs587778662	1:161332243-161332243	1:161362453-161362453
29	SDHC	NM_003001.3(SDHC):c.292T>G (p.Ser98Ala)	SNV	Uncertain significance	141883	rs371462564	1:161326517-161326517	1:161356727-161356727
30	SDHC	NM_003001.3(SDHC):c.436C>A (p.Pro146Thr)	SNV	Uncertain significance	142904	rs541660851	1:161332149-161332149	1:161362359-161362359
31	SDHC	NM_003001.3(SDHC):c.226A>G (p.Ile76Val)	SNV	Uncertain significance	407051	rs1060501389	1:161310430-161310430	1:161340640-161340640
32	SDHC	NM_003001.3(SDHC):c.238G>A (p.Ala80Thr)	SNV	Uncertain significance	407045	rs149375851	1:161310442-161310442	1:161340652-161340652
33	SDHC	NM_003001.3(SDHC):c.296A>G (p.Tyr99Cys)	SNV	Uncertain significance	407052	rs1060501390	1:161326521-161326521	1:161356731-161356731
34	SDHC	NM_003001.3(SDHC):c.7G>T (p.Ala3Ser)	SNV	Uncertain significance	407053	rs748243732	1:161284202-161284202	1:161314412-161314412
35	SDHC	NM_003001.3(SDHC):c.11T>C (p.Leu4Pro)	SNV	Uncertain significance	371802	rs774299337	1:161284206-161284206	1:161314416-161314416
36	SDHC	NM_003001.3(SDHC):c.197C>T (p.Ala66Val)	SNV	Uncertain significance	371843	rs760572684	1:161310401-161310401	1:161340611-161340611
37	SDHC	NC_000001.10:g.(?_161293404)_(161293460_?)del	deletion	Uncertain significance	417395		1:161293404-161293460	1:161323614-161323670
38	SDHC	NM_001035511.2(SDHC):c.8C>T (p.Ala3Val)	SNV	Uncertain significance	161387	rs142139022	1:161284203-161284203	1:161314413-161314413
39	SDHC	NM_003001.3(SDHC):c.15G>T (p.Leu5Phe)	SNV	Uncertain significance	184591	rs771746264	1:161284210-161284210	1:161314420-161314420
40	SDHC	NM_003001.3(SDHC):c.32G>T (p.Arg11Leu)	SNV	Uncertain significance	187333	rs767802663	1:161293415-161293415	1:161323625-161323625
41	SDHC	NM_003001.3(SDHC):c.25G>A (p.Val9Ile)	SNV	Uncertain significance	239451	rs774768866	1:161293408-161293408	1:161323618-161323618
42	SDHC	NM_003001.3(SDHC):c.32G>A (p.Arg11His)	SNV	Uncertain significance	239454	rs767802663	1:161293415-161293415	1:161323625-161323625
43	SDHC	NM_003001.3(SDHC):c.73A>G (p.Arg25Gly)	SNV	Uncertain significance	239457	rs878854587	1:161293456-161293456	1:161323666-161323666
44	SDHC	NM_003001.3(SDHC):c.85C>G (p.Pro29Ala)	SNV	Uncertain significance	239458	rs878854588	1:161298193-161298193	1:161328403-161328403
45	SDHC	NM_003001.3(SDHC):c.119G>A (p.Arg40Gln)	SNV	Uncertain significance	239446	rs772450693	1:161298227-161298227	1:161328437-161328437
46	SDHC	NM_003001.3(SDHC):c.128A>G (p.Asn43Ser)	SNV	Uncertain significance	239448	rs747349777	1:161298236-161298236	1:161328446-161328446
47	SDHC	NM_003001.3(SDHC):c.164A>G (p.His55Arg)	SNV	Uncertain significance	239449	rs878854585	1:161298272-161298272	1:161328482-161328482
48	SDHC	NM_003001.3(SDHC):c.295T>C (p.Tyr99His)	SNV	Uncertain significance	239453	rs760678574	1:161326520-161326520	1:161356730-161356730
49	SDHC	NM_003001.3(SDHC):c.432G>T (p.Lys144Asn)	SNV	Uncertain significance	465974	rs1366410028	1:161332145-161332145	1:161362355-161362355
50	SDHC	NM_003001.3(SDHC):c.22C>T (p.His8Tyr)	SNV	Uncertain significance	465965	rs746666691	1:161293405-161293405	1:161323615-161323615