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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Paraganglioma (D010235)
..Starting node ..PARAGANGLIOMAS 4 (OMIM:115310)
Child Nodes:
Sister Nodes:
..Carney-Stratakis Syndrome (C564650)
..Paraganglioma, Extra-Adrenal (D010236) 6
..Paragangliomas 2 (C566646)
..Paragangliomas 3 (C565335)
..PARAGANGLIOMAS 4 (OMIM:115310)
..Paragangliomas with Sensorineural Hearing Loss (C566831)
..Pheochromocytoma (D010673) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8593

Name:

PARAGANGLIOMAS 4

Definition:

Alternative IDs:

ParentIDs:

MESH:D010235

TreeNumbers:

C04.557.465.625.650.700/115310 |C04.557.580.625.650.700/115310

Synonyms:

Slim Mappings:

Cancer

Reference:

MedGen: 115310
MeSH: 115310
OMIM: 115310;

Genes: SDHB;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0006748	Adrenal pheochromocytoma
4	HP:0030074	Chemodectoma
5	HP:0006824	Cranial nerve paralysis
6	HP:0011976	Elevated urinary catecholamines
7	HP:0000740	Episodic paroxysmal anxiety
8	HP:0006737	Extraadrenal pheochromocytoma
9	HP:0100723	Gastrointestinal stroma tumor	HP:0040283
10	HP:0003001	Glomus jugular tumor
11	HP:0000975	Hyperhidrosis
12	HP:0002640	Hypertension associated with pheochromocytoma
13	HP:0003829	Incomplete penetrance
14	HP:0003006	Neuroblastoma	HP:0040283
15	HP:0001962	Palpitations
16	HP:0002864	Paraganglioma of head and neck	HP:0040283
17	HP:0008629	Pulsatile tinnitus
18	HP:0002331	Recurrent paroxysmal headache
19	HP:0005584	Renal cell carcinoma
20	HP:0001649	Tachycardia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003000.2(SDHB):c.725G>A (p.Arg242His)	6390	SDHB	Pathogenic	74315368	RCV000013620; RCV000013619; RCV000022778; RCV000183216; RCV000129095;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1861848,OMIM:115310; MedGen:CN221809	1	17349143	17349143	NM_003000.2:c.725G>A	NP_002991.2:p.Arg242His	NC_000001.10:g.17349143C>T	OMIM Allelic Variant:185470.0004	C0238198 606764 Gastrointestinal stromal tumor; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
NM_003000.2(SDHB):c.716_719delCTCT (p.Ser239Tyrfs)	6390	SDHB	Pathogenic	587781266	RCV000013622; RCV000013621; RCV000128877;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C1861848,OMIM:115310	1	17349149	17349152	NM_003000.2:c.716_719delCTCT	NP_002991.2:p.Ser239Tyrfs	NC_000001.10:g.17349149_17349152delAGAG	OMIM Allelic Variant:185470.0005	C0027672 Hereditary cancer-predisposing syndrome; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg)	6390	SDHB	Likely pathogenic;Pathogenic	74315367	RCV000013617; RCV000030623; RCV000213984;	N	MedGen:C1708353, Orphanet:ORPHA29072; MedGen:C1861848,OMIM:115310; MedGen:C3280492,OMIM:614327,ORPHA:289539	1	17350520	17350520	NM_003000.2:c.590C>G	NP_002991.2:p.Pro197Arg	NC_000001.10:g.17350520G>C	OMIM Allelic Variant:185470.0002	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes; C1861848 115310 Paragangliomas 4; C3280492 614327 Tumor predisposition syndrome
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro)	6390	SDHB	Benign;Pathogenic;Uncertain significance	33927012	RCV000013633; RCV000202946; RCV000030622; RCV000034688; RCV000122002; RCV000132153; RCV000206861;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1708353, Orphanet:ORPHA29072; MedGen:C1861848,OMIM:115310; MedGen:C3552552,OMIM:612359; MedGen:CN169374; MedGen:CN221809	1	17354297	17354297	NM_003000.2:c.487T>C	NP_002991.2:p.Ser163Pro	NC_000001.10:g.17354297A>G	OMIM Allelic Variant:185470.0015	C3552552 612359 Cowden syndrome 2; C0238198 606764 Gastrointestinal stromal tumor; C0027672 Hereditary cancer-predisposing syndrome; C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes; CN221809 not provided; CN169374 not specified; C1861848
NM_003000.2(SDHB):c.423+20T>A	6390	SDHB	Benign;Likely benign;Likely pathogenic	190139590	RCV000030448; RCV000183209; RCV000204733;	N	MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1861848,OMIM:115310; MedGen:CN169374	1	17355075	17355075	NM_003000.2:c.423+20T>A		NC_000001.10:g.17355075A>T	-	C0238198 606764 Gastrointestinal stromal tumor; CN169374 not specified; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
NM_003000.2(SDHB):c.423+1G>A	6390	SDHB	Pathogenic	398122805	RCV000022779; RCV000163600;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1861848,OMIM:115310	1	17355094	17355094	NM_003000.2:c.423+1G>A		NC_000001.10:g.17355094C>T	OMIM Allelic Variant:185470.0019	C0027672 Hereditary cancer-predisposing syndrome; C1861848 115310 Paragangliomas 4
NM_003000.2(SDHB):c.418G>T (p.Val140Phe)	6390	SDHB	Likely pathogenic;Pathogenic	267607032	RCV000013634; RCV000183213; RCV000132167;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1861848,OMIM:115310; MedGen:CN221809	1	17355100	17355100	NM_003000.2:c.418G>T	NP_002991.2:p.Val140Phe	NC_000001.10:g.17355100C>A	OMIM Allelic Variant:185470.0016	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C1861848 115310 Paragangliomas 4
NM_003000.2(SDHB):c.395A>C (p.His132Pro)	6390	SDHB	Pathogenic	74315372	RCV000013628;	N	MedGen:C1861848,OMIM:115310	1	17355123	17355123	NM_003000.2:c.395A>C	NP_002991.2:p.His132Pro	NC_000001.10:g.17355123T>G	OMIM Allelic Variant:185470.0010	C1861848 115310 Paragangliomas 4
NM_003000.2(SDHB):c.343C>T (p.Arg115Ter)	6390	SDHB	Pathogenic	751000085	RCV000178185; RCV000178186;	N	MedGen:C0031511,OMIM:171300; MedGen:C1861848,OMIM:115310	1	17355175	17355175	NM_003000.2:c.343C>T	NP_002991.2:p.Arg115Ter	NC_000001.10:g.17355175G>A	-	C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
NM_003000.2(SDHB):c.300T>C (p.Ser100=)	6390	SDHB	Benign;Likely benign	11541235	RCV000151827; RCV000162388; RCV000204883;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1861848,OMIM:115310; MedGen:CN169374	1	17355218	17355218	NM_003000.2:c.300T>C	NP_002991.2:p.Ser100=	NC_000001.10:g.17355218A>G	-	C0238198 606764 Gastrointestinal stromal tumor; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
NM_003000.2(SDHB):c.268C>T (p.Arg90Ter)	6390	SDHB	Pathogenic	74315366	RCV000013616; RCV000037718; RCV000215883; RCV000183211; RCV000030621;	N	MedGen:C0031511,OMIM:171300; MedGen:C1708353, Orphanet:ORPHA29072; MedGen:C1861848,OMIM:115310; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	1	17359573	17359573	NM_003000.2:c.268C>T	NP_002991.2:p.Arg90Ter	NC_000001.10:g.17359573G>A,NC_000001.10:g.17359573G>C	OMIM Allelic Variant:185470.0001	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes; CN221809 not provided; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma; C3280492 614327 Tumor predisposition syndrome
NM_003000.2(SDHB):c.158G>A (p.Gly53Glu)	6390	SDHB	Likely benign;Uncertain significance	34916635	RCV000163315; RCV000206839;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1861848,OMIM:115310	1	17371298	17371298	NM_003000.2:c.158G>A	NP_002991.2:p.Gly53Glu	NC_000001.10:g.17371298C>T	-	C0238198 606764 Gastrointestinal stromal tumor; C0027672 Hereditary cancer-predisposing syndrome; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
NM_003000.2(SDHB):c.79C>T (p.Arg27Ter)	6390	SDHB	Pathogenic	74315369	RCV000013624; RCV000013623; RCV000129929;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C1861848,OMIM:115310	1	17371377	17371377	NM_003000.2:c.79C>T	NP_002991.2:p.Arg27Ter	NC_000001.10:g.17371377G>A,NC_000001.10:g.17371377G>C	OMIM Allelic Variant:185470.0006	C0027672 Hereditary cancer-predisposing syndrome; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
NM_003000.2(SDHB):c.65G>C (p.Cys22Ser)	6390	SDHB	Uncertain significance	141230910	RCV000206152;	N	MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1861848,OMIM:115310	1	17380450	17380450	NM_003000.2:c.65G>C	NP_002991.2:p.Cys22Ser		-	C0238198 606764 Gastrointestinal stromal tumor; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
NM_003000.2(SDHB):c.24C>T (p.Ser8=)	6390	SDHB	Benign;Likely benign	148738139	RCV000173293; RCV000163384; RCV000205638;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1861848,OMIM:115310; MedGen:CN169374	1	17380491	17380491	NM_003000.2:c.24C>T	NP_002991.2:p.Ser8=	NC_000001.10:g.17380491G>A	-	C0238198 606764 Gastrointestinal stromal tumor; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly)	6390	SDHB	Benign;Pathogenic;Uncertain significance	11203289	RCV000013632; RCV000034690; RCV000121999; RCV000128921; RCV000204871;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1861848,OMIM:115310; MedGen:C3552552,OMIM:612359; MedGen:CN169374; MedGen:CN221809	1	17380507	17380507	NM_003000.2:c.8C>G	NP_002991.2:p.Ala3Gly	NC_000001.10:g.17380507G>C	OMIM Allelic Variant:185470.0014	C3552552 612359 Cowden syndrome 2; C0238198 606764 Gastrointestinal stromal tumor; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1861848 115310 Paragangliomas 4; C0031511 171300 Pheochromocytoma