Disease browser and phenotype portal

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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: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Paraganglioma (D010235)
..Starting node ..Paragangliomas 3 (C565335)
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:

8592

Name:

Paragangliomas 3

Definition:

Alternative IDs:

OMIM:605373

ParentIDs:

MESH:D009386|MESH:D010235

TreeNumbers:

C04.557.465.625.650.700/C565335 |C04.557.580.625.650.700/C565335 |C04.700/C565335 |C16.320.700/C565335

Synonyms:

Slim Mappings:

Cancer|Genetic disease (inborn)

Reference:

MedGen: C565335
MeSH: C565335
OMIM: 605373;

Genes: SDHC;

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:0003334	Elevated circulating catecholamine level
7	HP:0000740	Episodic paroxysmal anxiety
8	HP:0006737	Extraadrenal pheochromocytoma
9	HP:0003001	Glomus jugular tumor
10	HP:0001609	Hoarse voice
11	HP:0000975	Hyperhidrosis
12	HP:0002640	Hypertension associated with pheochromocytoma
13	HP:0001686	Loss of voice
14	HP:0001962	Palpitations
15	HP:0008629	Pulsatile tinnitus
16	HP:0002331	Recurrent paroxysmal headache
17	HP:0001649	Tachycardia
18	HP:0001605	Vocal cord paralysis

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_003001.3(SDHC):c.3G>A (p.Met1Ile)	6391	SDHC	Pathogenic	587776652	RCV000007663;	N	MedGen:C1854336,OMIM:605373	1	161284198	161284198	NM_003001.3:c.3G>A	NP_002992.1:p.Met1Ile	1:g.161284198G>A	OMIM Allelic Variant:602413.0001	C1854336 605373 Paragangliomas 3
NM_003001.3(SDHC):c.6T>C (p.Ala2=)	6391	SDHC	Likely benign	775353334	RCV000206464;	N	MedGen:C0238198,OMIM:606764,ORPHA:44890; MedGen:C1854336,OMIM:605373	1	161284201	161284201	NM_003001.3:c.6T>C	NP_002992.1:p.Ala2=		-	C0238198 606764 Gastrointestinal stromal tumor; C1854336 605373 Paragangliomas 3
NM_003001.3(SDHC):c.43C>T (p.Arg15Ter)	6391	SDHC	Pathogenic	201286421	RCV000034695; RCV000128874;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1854336,OMIM:605373	1	161293426	161293426	NM_003001.3:c.43C>T	NP_002992.1:p.Arg15Ter	NC_000001.10:g.161293426C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C1854336 605373 Paragangliomas 3
NM_003001.3(SDHC):c.405+1G>T	6391	SDHC	Pathogenic	587776653	RCV000007664;	N	MedGen:C1854336,OMIM:605373	1	161326631	161326631	NM_003001.3:c.405+1G>T		NC_000001.10:g.161326631G>A,NC_000001.10:g.161326631G>T	OMIM Allelic Variant:602413.0002	C1854336 605373 Paragangliomas 3
NM_003001.3(SDHC):c.*84G>C	6391	SDHC	Benign;Likely benign	201210474	RCV000211525; RCV000203076; RCV000034692; RCV000122004;	N	MedGen:C0031511,OMIM:171300; MedGen:C1854336,OMIM:605373; MedGen:CN169374; MedGen:CN221809	1	161332307	161332307	NM_003001.3:c.*84G>C		NC_000001.10:g.161332307G>C	-	CN221809 not provided; CN169374 not specified; C1854336 605373 Paragangliomas 3; C0031511 171300 Pheochromocytoma