MCID: NNS018
MIFTS: 12

Nonsyndromic Paraganglioma

Categories: Genetic diseases, Rare diseases, Cancer diseases, Endocrine diseases

Aliases & Classifications for Nonsyndromic Paraganglioma

MalaCards integrated aliases for Nonsyndromic Paraganglioma:

Name: Nonsyndromic Paraganglioma 25
Extra-Adrenal Paraganglioma 69
Carotid Body Paraganglioma 69
Chemodectoma 25

Classifications:



Summaries for Nonsyndromic Paraganglioma

Genetics Home Reference : 25 Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in the adrenal glands. Adrenal glands are located on top of each kidney and produce hormones in response to stress. Most people with paraganglioma develop only one tumor in their lifetime.

MalaCards based summary : Nonsyndromic Paraganglioma, also known as extra-adrenal paraganglioma, is related to abdominal chemodectomas with cutaneous angiolipomas and non-secreting chemodectoma. Affiliated tissues include adrenal gland and kidney.

Related Diseases for Nonsyndromic Paraganglioma

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 3
Paragangliomas 5 Paragangliomas 2
Nonsyndromic Paraganglioma

Diseases related to Nonsyndromic Paraganglioma via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 abdominal chemodectomas with cutaneous angiolipomas 11.8
2 non-secreting chemodectoma 11.8
3 paragangliomas 1, with or without deafness 11.6
4 paraganglioma 10.8
5 glomus tumor 9.9
6 atrioventricular block 9.8
7 third-degree atrioventricular block 9.8
8 neuroendocrine tumor 9.8
9 ganglioneuroma 9.8
10 syncope 9.8

Graphical network of the top 20 diseases related to Nonsyndromic Paraganglioma:



Diseases related to Nonsyndromic Paraganglioma

Symptoms & Phenotypes for Nonsyndromic Paraganglioma

Drugs & Therapeutics for Nonsyndromic Paraganglioma

Search Clinical Trials , NIH Clinical Center for Nonsyndromic Paraganglioma

Genetic Tests for Nonsyndromic Paraganglioma

Anatomical Context for Nonsyndromic Paraganglioma

MalaCards organs/tissues related to Nonsyndromic Paraganglioma:

39
Adrenal Gland, Kidney

Publications for Nonsyndromic Paraganglioma

Variations for Nonsyndromic Paraganglioma

Cosmic variations for Nonsyndromic Paraganglioma:

9 (show all 42)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM17982 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 4
2 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 4
3 COSM14283 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 4
4 COSM17662 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 4
5 COSM18097 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 4
6 COSM14321 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 4
7 COSM6444479 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 4
8 COSM100047 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 4
9 COSM236660 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 4
10 COSM966 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 4
11 COSM965 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 4
12 COSM1710108 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 4
13 COSM330588 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.A776_Q803del 4
14 COSM330587 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.R69fs*7 4
15 COSM220089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.Q616fs*4 4
16 COSM329092 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.A548fs*13 4
17 COSM30670 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 4
18 COSM329090 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 4
19 COSM5885098 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 4
20 COSM329093 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 4
21 COSM329089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 4
22 COSM327926 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 4
23 COSM327927 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 4
24 COSM33676 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 4
25 COSM5946188 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 4
26 COSM707 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 4
27 COSM5967149 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 4
28 COSM499 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 4
29 COSM496 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.181C>A p.Q61K 4
30 COSM486 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.37G>C p.G13R 4
31 COSM1732355 H3F3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 4
32 COSM19176 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1638C>A p.N546K 4
33 COSM6188649 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 4
34 COSM6188660 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 4
35 COSM6196778 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 4
36 COSM6196613 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 4
37 COSM17988 VHL adrenal gland,NS,pheochromocytoma,benign c.341-1G>T p.? 3
38 COSM144972 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3
39 COSM144971 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3
40 COSM14311 VHL adrenal gland,NS,pheochromocytoma,benign c.499C>T p.R167W 3
41 COSM3402726 NF1 adrenal gland,NS,pheochromocytoma,benign c.1307C>A p.S436* 3
42 COSM6476262 EPAS1 adrenal gland,NS,pheochromocytoma,benign c.1601C>T p.P534L 3

Expression for Nonsyndromic Paraganglioma

Search GEO for disease gene expression data for Nonsyndromic Paraganglioma.

Pathways for Nonsyndromic Paraganglioma

GO Terms for Nonsyndromic Paraganglioma

Sources for Nonsyndromic Paraganglioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....