MCID: NNS018
MIFTS: 33

Nonsyndromic Paraganglioma

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

Aliases & Classifications for Nonsyndromic Paraganglioma

MalaCards integrated aliases for Nonsyndromic Paraganglioma:

Name: Nonsyndromic Paraganglioma 43
Extra-Adrenal Paraganglioma 71
Carotid Body Paraganglioma 71
Chemodectoma 43

Classifications:



External Ids:

UMLS 71 C0007279 C0030422

Summaries for Nonsyndromic Paraganglioma

MedlinePlus Genetics : 43 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.Some people develop a paraganglioma or pheochromocytoma as part of a hereditary syndrome that may affect other organs and tissues in the body. However, the tumors often are not associated with any syndromes, in which case the condition is called nonsyndromic paraganglioma or pheochromocytoma.Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the "fight-or-flight" response, a series of changes in the body due to hormones released in response to stress. Although most sympathetic paragangliomas are pheochromocytomas, some are found outside the adrenal glands, usually in the abdomen, and are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating.Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing.Although most paragangliomas and pheochromocytomas are noncancerous, some can become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma.

MalaCards based summary : Nonsyndromic Paraganglioma, also known as extra-adrenal paraganglioma, is related to paraganglioma and glomus tumor. An important gene associated with Nonsyndromic Paraganglioma is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B). The drugs Racepinephrine and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, cortex and spinal cord, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Nonsyndromic Paraganglioma

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 1
Paragangliomas 2 Paragangliomas 3
Paragangliomas 5 Paragangliomas 6
Paragangliomas 7 Nonsyndromic Paraganglioma

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 paraganglioma 31.4 SDHB RET CHGA
2 glomus tumor 30.3 SDHB CHGA
3 ganglioneuroma 29.4 RET CHGA
4 adenoma 29.4 RET CHGA
5 hyperparathyroidism 29.4 RET CHGA
6 pheochromocytoma 29.3 SDHB RET CHGA
7 multiple endocrine neoplasia 29.2 SDHB RET CHGA
8 extra-adrenal pheochromocytoma 29.0 SDHB RET CHGA
9 neuroendocrine tumor 29.0 SDHB RET CHGA
10 chemodectoma, intraabdominal, with cutaneous angiolipomas 10.9
11 paragangliomas 1 10.2
12 rare tumor 10.2
13 adrenal gland pheochromocytoma 10.0
14 pericarditis 10.0
15 osteochondroma 10.0
16 goiter 9.9
17 neurilemmoma 9.9
18 carotid body cancer 9.9
19 malignant pheochromocytoma 9.9 SDHB CHGA
20 adrenal carcinoma 9.9 SDHB CHGA
21 solid adenocarcinoma with mucin production 9.8 RET CHGA
22 thyroid gland medullary carcinoma 9.8 RET CHGA
23 islet cell tumor 9.8 RET CHGA
24 thyroid carcinoma, familial medullary 9.8 RET CHGA
25 parathyroid adenoma 9.8 RET CHGA
26 sporadic pheochromocytoma/secreting paraganglioma 9.8 SDHB RET
27 lipomatosis, multiple 9.8
28 otitis media 9.8
29 sarcoidosis 1 9.8
30 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
31 myasthenia gravis 9.8
32 ocular motor apraxia 9.8
33 thymoma, familial 9.8
34 branchiootic syndrome 1 9.8
35 meningioma, familial 9.8
36 atrioventricular block 9.8
37 third-degree atrioventricular block 9.8
38 mucositis 9.8
39 pleomorphic lipoma 9.8
40 petrositis 9.8
41 spinal meningioma 9.8
42 hemopericardium 9.8
43 cardiac tamponade 9.8
44 cauda equina syndrome 9.8
45 pericardial effusion 9.8
46 leiomyoma 9.8
47 nodular goiter 9.8
48 hypothyroidism 9.8
49 gangliocytoma 9.8
50 chondroma 9.8

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



Diseases related to Nonsyndromic Paraganglioma

Symptoms & Phenotypes for Nonsyndromic Paraganglioma

GenomeRNAi Phenotypes related to Nonsyndromic Paraganglioma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 9.32 CHGA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.32 RET
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.32 RET
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 9.32 RET
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-174 9.32 CHGA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.32 CHGA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.32 CHGA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.32 RET
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.32 CHGA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-70 9.32 CHGA

MGI Mouse Phenotypes related to Nonsyndromic Paraganglioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.13 CHGA RET SDHB
2 renal/urinary system MP:0005367 8.8 CHGA RET SDHB

Drugs & Therapeutics for Nonsyndromic Paraganglioma

Drugs for Nonsyndromic Paraganglioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 2 329-65-7 838
2
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
3
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
4 Immunosuppressive Agents Phase 2
5 Immunologic Factors Phase 2
6 Epinephryl borate Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
2 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride

Search NIH Clinical Center for Nonsyndromic Paraganglioma

Genetic Tests for Nonsyndromic Paraganglioma

Anatomical Context for Nonsyndromic Paraganglioma

MalaCards organs/tissues related to Nonsyndromic Paraganglioma:

40
Kidney, Cortex, Spinal Cord, Prostate, Adrenal Cortex

Publications for Nonsyndromic Paraganglioma

Articles related to Nonsyndromic Paraganglioma:

(show top 50) (show all 166)
# Title Authors PMID Year
1
RET expression and neuron-like differentiation of pheochromocytoma and normal chromaffin cells. 54 61
19551609 2009
2
Carney triad: A case report, characteristics and literature review of this rare entity. 61
33422846 2021
3
Acute haemoperitoneum caused by ruptured extra-adrenal paraganglioma. 61
32592624 2021
4
Para-aortic haemangioma mimics paraganglioma on MRI. 61
33310823 2020
5
Aggressive Paraganglioma of the Urinary Bladder with Local Recurrence and Pelvic Metastasis. 61
32548698 2020
6
De novo SDHB gene mutation in a family with extra-adrenal paraganglioma. 61
32200538 2020
7
Laparoscopic Resection of a Non-functional, Extra-adrenal Paraganglioma: A Case Report and Literature Review. 61
32455070 2020
8
Evaluation of a Lung Nodule in the Setting of Metastatic Gastrointestinal Stromal Tumor: Surgical Considerations in Carney's Triad. 61
32399353 2020
9
Pancreatic paraganglioma mimicking pancreatic neuroendocrine tumor. 61
33425308 2020
10
Paraganglioma of the spermatic cord: report of one case and review of literature. 61
32782705 2020
11
Prospective evaluation of 68Ga-DOTANOC positron emission tomography/computed tomography and 131I-meta-iodobenzylguanidine single-photon emission computed tomography/computed tomography in extra-adrenal paragangliomas, including uncommon primary sites and to define their diagnostic roles in current scenario. 61
31633647 2019
12
Ligament-Saving Laminoplasty for Intraspinal Tumor Excision: A Technical Note. 61
31103766 2019
13
Laparoscopic resection of retroperitoneal paraganglioma behind the Spiegel lobe in a kyphotic patient: A rare case report. 61
30015378 2019
14
68Ga-DOTATOC PET/CT in the localization of metastatic extra-adrenal paraganglioma and pheochromocytoma compared with 18F-DOPA PET/CT. 61
30630744 2019
15
Orbital paraganglioma in a dog. 61
30658369 2018
16
Immediate Clinical Success After Percutaneous Ablation of Extra-adrenal Paraganglioma. 61
29922859 2018
17
Diagnosis of paraganglioma as a pancreatic mass: A case report. 61
29882285 2018
18
Extra-adrenal paraganglioma masquerading as severe preeclampsia. 61
30018907 2018
19
Posterior Retroperitoneoscopic Resection of Extra-adrenal Paraganglioma Located in the Aorto-caval Space. 61
29330717 2018
20
Functional Ulnar Nerve Paraganglioma: First Documented Occurrence in the Extremity With Hitherto Undescribed Associated Extensive Glomus Cell Hyperplasia and Tumorlet Formation. 61
28697655 2018
21
Clinical evaluation and treatment of phaeochromocytoma. 61
29027806 2018
22
MR imaging features of benign retroperitoneal paragangliomas and schwannomas. 61
29301496 2018
23
68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Extra-adrenal Paraganglioma in a Case of Complete Carney Triad. 61
29076898 2017
24
Peripancreatic paraganglioma mimics pancreatic/gastrointestinal neuroendocrine tumor on fine needle aspiration: Report of two cases and review of the literature. 61
28560856 2017
25
Challenging differential diagnosis of an extra-adrenal paraganglioma; the role of fine needle aspiration cytology. 61
28261927 2017
26
Compared to 123I-MIBG SPECT/CT, 18F-DOPA PET/CT provides accurate tumor extent in patients with extra-adrenal paraganglioma. 61
28349331 2017
27
Extra-adrenal pheochromocytoma at the organ of Zuckerkandl: a case report and literature review. 61
28491185 2017
28
[Carney triad: Report of one case]. 61
28749001 2017
29
Pheochromocytoma of the Organ Zuckerkandl. 61
28414676 2017
30
A phase I clinical trial for [131I]meta-iodobenzylguanidine therapy in patients with refractory pheochromocytoma and paraganglioma: a study protocol. 61
28954983 2017
31
[Carney triad]. 61
28931294 2017
32
Malignant extra-adrenal pelvic paraganglioma in a paediatric patient. 61
28900474 2017
33
Functional extra-adrenal paraganglioma of the retroperitoneum giving thoracolumbar spine metastases after a five-year disease-free follow-up: a rare malignant condition with challenging management. 61
29255564 2017
34
An unusual case of incomplete Carney triad: an 18-year-old girl suffering from multiple benign tumors. 61
27867588 2016
35
Sudden Death and an Extra-Adrenal Paraganglioma. 61
31239903 2016
36
Imaging findings of malignant bilateral carotid body tumors: A case report and review of the literature. 61
27073498 2016
37
Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl. 61
26283294 2016
38
Primary pancreatic paraganglioma: a case report and literature review. 61
26801079 2016
39
Pelvic paraganglioma: a rare and unusual clinical presentation of paraganglioma. 61
26740269 2016
40
A resected case of liver metastases from extra-adrenal retroperitoneal paraganglioma with von Recklinghausen's disease 16 years after the initial surgery. 61
26943413 2015
41
Multifocal Extra-Adrenal Paraganglioma - Case Report. 61
26351793 2015
42
Carotid Body Tumor Presenting as Parotid Swelling Misdiagnosed as Pleomorphic Adenoma: A Rare Presentation. 61
26425073 2015
43
Comparison of 131I-MIBG, 68Ga-DOTANOC PET/CT and 18F-FDG PET/CT scans in a patient with extra adrenal paraganglioma associated with SDH-B gene mutation. 61
25742231 2015
44
A case of carotid body tumor concomitant with carcinoid tumor. 61
25199739 2015
45
Paraganglioma Presenting as Postpartum Fever of Unknown Origin. 61
26236513 2015
46
Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. 61
25423347 2015
47
Gastric paraganglioma: a case report and a review of the literature. 61
25559752 2014
48
Extra-adrenal paraganglioma of the median nerve. 61
23750845 2014
49
Extra-adrenal paraganglioma presenting as acute chest pain mimicking acute myocardial infarction in a 10-year-old boy. 61
25373568 2014
50
Recurrent malignant pheochromocytoma with unusual omental metastasis: (68)Ga-DOTANOC PET/CT and (131)I-MIBG SPECT/CT scintigraphy findings. 61
25400380 2014

Variations for Nonsyndromic Paraganglioma

Cosmic variations for Nonsyndromic Paraganglioma:

9 (show top 50) (show all 113)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88301868 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 0
2 COSM90654925 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 0
3 COSM88294143 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 0
4 COSM90652830 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.373G>T p.V125F 3:10149819-10149819 0
5 COSM90658470 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3:10142091-10142091 0
6 COSM88293303 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 0
7 COSM88288959 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 0
8 COSM88296074 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 0
9 COSM88291454 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3:10142092-10142092 0
10 COSM88292246 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 0
11 COSM88297427 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3:10142091-10142091 0
12 COSM90652721 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.368A>G p.Q123R 3:10149814-10149814 0
13 COSM88292324 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 0
14 COSM90657160 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 0
15 COSM88305342 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 0
16 COSM90653943 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>G p.K118E 3:10149798-10149798 0
17 COSM90668341 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.369G>T p.Q123H 3:10149815-10149815 0
18 COSM88292236 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 0
19 COSM88289571 VHL adrenal gland,NS,pheochromocytoma,benign c.341-1G>T p.? 3:10146513-10146513 0
20 COSM90651871 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3:10142092-10142092 0
21 COSM88294223 VHL adrenal gland,NS,pheochromocytoma,benign c.499C>T p.R167W 3:10149822-10149822 0
22 COSM90649980 VHL adrenal gland,NS,pheochromocytoma,benign c.341-3274G>T p.? 3:10146513-10146513 0
23 COSM90655004 VHL adrenal gland,NS,pheochromocytoma,benign c.376C>T p.R126W 3:10149822-10149822 0
24 COSM90652730 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 0
25 COSM90648957 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.359G>A p.R120Q 3:10149805-10149805 0
26 COSM90664073 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.341-3225T>G p.? 3:10146562-10146562 0
27 COSM90811579 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 0
28 COSM92347003 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 0
29 COSM142343426 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1289+3268T>C p.? 10:43114500-43114500 0
30 COSM142343204 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.*102T>C p.? 10:43121968-43121968 0
31 COSM92347226 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 0
32 COSM90811811 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 0
33 COSM93530486 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 0
34 COSM93656552 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 0
35 COSM93692982 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 0
36 COSM93650970 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 0
37 COSM120509060 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 0
38 COSM93535461 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 0
39 COSM109968573 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 0
40 COSM109960979 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 0
41 COSM93512112 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 0
42 COSM93508888 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 0
43 COSM93650443 NF1 adrenal gland,NS,pheochromocytoma,benign c.1307C>A p.S436* 17:31206286-31206286 0
44 COSM93509879 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 0
45 COSM120509488 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 0
46 COSM93507010 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7237C>T p.Q2413* 17:31349230-31349230 0
47 COSM93662933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 0
48 COSM93654948 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 0
49 COSM93504734 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 0
50 COSM93507162 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 0

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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