MCID: PRG013
MIFTS: 54

Paraganglioma malady

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

Aliases & Classifications for Paraganglioma

Aliases & Descriptions for Paraganglioma:

Name: Paraganglioma 12 29 52 42 14 69
Extra-Adrenal Paraganglioma 69
Carotid Body Paraganglioma 69
Chemodectoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050773
MeSH 42 D010235
NCIt 47 C3308
UMLS 69 C0030421

Summaries for Paraganglioma

MalaCards based summary : Paraganglioma, also known as extra-adrenal paraganglioma, is related to paraganglioma and gastric stromal sarcoma and gastrointestinal stromal tumor, and has symptoms including aphonia An important gene associated with Paraganglioma is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B), and among its related pathways/superpathways are Pathways in cancer and Neuroscience. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include testes, thyroid and lymph node, and related phenotypes are Decreased sensitivity to paclitaxel and mortality/aging

Wikipedia : 71 A paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites (including the... more...

Related Diseases for Paraganglioma

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 3
Paragangliomas 5 Paragangliomas 2
Nonsyndromic Paraganglioma

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

(show top 50) (show all 255)
id Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 33.8 SDHB SDHC SDHD
2 gastrointestinal stromal tumor 30.7 CHGA ENO2 NF1 SDHA SDHB SDHC
3 pheochromocytoma 30.4 CHGA ENO2 EPAS1 FH NF1 RET
4 glomus tumor 29.6 ENO2 SYP
5 mitochondrial complex ii deficiency 29.4 CHGA SDHD SYP
6 thymoma 29.3 ENO2 FH SYP
7 superior vena cava syndrome 29.3 CHGA ENO2 SYP
8 aneurysm 28.8 CHGA NF1 RET SDHB SDHC VHL
9 hereditary paraganglioma-pheochromocytoma syndromes 12.4
10 paragangliomas 1, with or without deafness 12.3
11 paragangliomas 3 12.2
12 paragangliomas 2 12.2
13 paragangliomas 4 12.2
14 paragangliomas 5 12.2
15 nonsyndromic paraganglioma 12.1
16 non-secreting paraganglioma 11.8
17 non-secreting chemodectoma 11.8
18 abdominal chemodectomas with cutaneous angiolipomas 11.8
19 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 11.7
20 multiple paragangliomas associated with polycythemia 11.7
21 max-related hereditary paraganglioma-pheochromocytoma syndrome 11.7
22 sporadic secreting paraganglioma 11.7
23 sdhb-related paraganglioma and gastric stromal sarcoma 11.7
24 sdhc-related paraganglioma and gastric stromal sarcoma 11.7
25 sdhd-related paraganglioma and gastric stromal sarcoma 11.7
26 glomus vagale tumor 11.4
27 phaeochromocytoma 11.2
28 neuroblastoma 11.1
29 carney triad 11.1
30 glomus tympanicum tumor 10.9
31 acromegaly 10.7
32 carotid body cancer 10.7
33 glioma susceptibility 2 10.3 SDHB SDHC SDHD
34 serous surface papilloma 10.3 SDHB SDHC SDHD
35 thyroiditis 10.3
36 acute salpingitis 10.2 SDHA SDHD
37 peroneal nerve paralysis 10.2 CHGA SYP
38 brain stem ependymoma 10.2 CHGA SYP
39 non specific chronic endometritis 10.2 CHGA SYP
40 extrahepatic biliary papillomatosis 10.2 CHGA SYP
41 epithelioid malignant peripheral nerve sheath tumor 10.2 CHGA SYP
42 uterine corpus sarcoma 10.2 ENO2 RET
43 cartilage cancer 10.2 CHGA SYP
44 villous adenocarcinoma 10.2 CHGA SYP
45 jejunal neuroendocrine tumor 10.2 CHGA SYP
46 atrioventricular septal defect 2 10.2 EPAS1 VHL
47 glomangioma 10.2 SDHB SDHD SYP
48 renal pelvis adenocarcinoma 10.2 CHGA SYP
49 sm-ahnmd 10.2 CHGA ENO2
50 barre-lieou syndrome 10.2 CHGA SYP

Graphical network of the top 20 diseases related to Paraganglioma:



Diseases related to Paraganglioma

Symptoms & Phenotypes for Paraganglioma

UMLS symptoms related to Paraganglioma:


aphonia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.62 NF1 VHL

MGI Mouse Phenotypes related to Paraganglioma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 SDHB SDHC SDHD VHL CHGA EPAS1

Drugs & Therapeutics for Paraganglioma

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

(show top 50) (show all 123)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4 59-96-1 4768
3 Adrenergic Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Adrenergic alpha-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Antihypertensive Agents Phase 4
9 Vasodilator Agents Phase 4
10
Somatostatin Approved Phase 2, Phase 3,Phase 1 38916-34-6, 51110-01-1 53481605
11
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
12
Ifosfamide Approved Phase 3 3778-73-2 3690
13
Lenograstim Approved Phase 3 135968-09-1
14
Mechlorethamine Approved Phase 3 51-75-2 4033
15
Doxil Approved June 1999 Phase 3,Phase 2 31703
16 3-Iodobenzylguanidine Phase 3,Phase 1,Phase 2
17 Radiopharmaceuticals Phase 3,Phase 1,Phase 2
18 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
19 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
20 Hormone Antagonists Phase 2, Phase 3,Phase 1
21 Hormones Phase 2, Phase 3,Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
23 Alkylating Agents Phase 3,Phase 1
24 Antineoplastic Agents, Alkylating Phase 3,Phase 1
25 Isophosphamide mustard Phase 3
26 Topoisomerase Inhibitors Phase 3,Phase 2
27
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
28
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
29
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
30
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
31
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
32
Carbidopa Approved Phase 2 28860-95-9 34359 38101
33
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
34
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
35
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
36
Tamoxifen Approved Phase 2 10540-29-1 2733526
37
Octreotide Approved, Investigational Phase 2,Phase 1 83150-76-9 383414 6400441
38
Lenvatinib Approved Phase 2 417716-92-8
39
nivolumab Approved Phase 2 946414-94-4
40
Pembrolizumab Approved Phase 2 1374853-91-4
41
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
42
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
43
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
44 Antifungal Agents Phase 2,Phase 1
45 Anti-Infective Agents Phase 2,Phase 1
46
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
47 Immunosuppressive Agents Phase 2,Phase 1
48 Protein Kinase Inhibitors Phase 2,Phase 1
49 Angiogenesis Inhibitors Phase 2
50 Angiogenesis Modulating Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 71)
id Name Status NCT ID Phase
1 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 Phase 4
2 Phenoxybenzamine Versus Doxazosin in PCC Patients Recruiting NCT01379898 Phase 4
3 Stereotactic Body Radiotherapy for Head and Neck Tumors Active, not recruiting NCT01344356 Phase 4
4 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3
5 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3
6 Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3
7 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3
8 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3
9 Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3
10 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Unknown status NCT00843531 Phase 2
11 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2
12 Phase 1 Study of Iobenguane (MIBG) I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2
13 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2
14 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
15 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2
16 Leprosy Skin Test Antigens Trial Completed NCT00128193 Phase 2
17 131MIBG to Treat Malignant Pheochromocytoma Completed NCT00028106 Phase 2
18 A Broad Multi-histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-small Cell Lung, Head and Neck Hepatocellular and Renal Cell Carcinomas, and Pheochromocytoma and Thyroid Tumors (Multi-H... Completed NCT00923481 Phase 2
19 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2
20 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2
21 Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2
22 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2
23 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
24 Evaluation of Gallium-68 DOTA-TOC Imaging of Somatostatin Receptor Positive Malignancies Recruiting NCT02177773 Phase 2
25 PEN-221 in Somatostatin Receptor 2 Expressing Advanced Cancers Including Neuroendocrine and Small Cell Lung Cancers Recruiting NCT02936323 Phase 1, Phase 2
26 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
27 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
28 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Active, not recruiting NCT01967576 Phase 2
29 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
30 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2
31 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Active, not recruiting NCT01237457 Phase 2
32 A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer Not yet recruiting NCT03165721 Phase 2
33 Phase 2 Study of ONC201 in Neuroendocrine Tumors Not yet recruiting NCT03034200 Phase 2
34 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2
35 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2
36 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1
37 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1
38 Cixutumumab, Everolimus, and Octreotide Acetate in Treating Patients With Advanced Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT01204476 Phase 1
39 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1
40 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
41 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Active, not recruiting NCT00655655 Phase 1
42 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Not yet recruiting NCT02831179 Phase 1
43 Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer Terminated NCT00002947 Phase 1
44 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1
45 Specificity of Elevated Plasma EM66 Levels in Pheochromocytoma Completed NCT01022515
46 Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers Completed NCT00188019
47 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407
48 Efficacy and Safety of Posterior Retroperitoneoscopic Adrenalectomy: A Comparative Study Completed NCT02618694
49 Non-invasive Evaluation of Fluid Status and Cardiac Output During Operative Treatment of Pheochromcytoma Completed NCT01425710
50 Diagnosis and Treatment of Pheochromocytoma Completed NCT00001229

Search NIH Clinical Center for Paraganglioma

Cochrane evidence based reviews: paraganglioma

Genetic Tests for Paraganglioma

Genetic tests related to Paraganglioma:

id Genetic test Affiliating Genes
1 Paraganglioma 29

Anatomical Context for Paraganglioma

MalaCards organs/tissues related to Paraganglioma:

39
Testes, Thyroid, Lymph Node, Pituitary, Bone, Liver, Lung

Publications for Paraganglioma

Articles related to Paraganglioma:

(show top 50) (show all 1034)
id Title Authors Year
1
Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation. ( 28179334 )
2017
2
Long Distance Endovascular Growth of Jugulotympanic Paraganglioma Evident in 68Ga-DOTATATE PET but Concealed on CT. ( 27922869 )
2017
3
Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India. ( 28432847 )
2017
4
Plasma Methoxytyramine: Clinical Utility with Metanephrines for Diagnosis of Pheochromocytoma and Paraganglioma. ( 28476870 )
2017
5
Successful response to pegylated interferon alpha in a patient with recurrent paraganglioma. ( 27895137 )
2017
6
Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors. ( 27865588 )
2017
7
Surgical Treatment of Malignant Pheochromocytoma and Paraganglioma: Retrospective Case Series. ( 28058556 )
2017
8
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma. ( 27856506 )
2017
9
Composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report. ( 27704704 )
2017
10
Absence of BRAF mutation in pheochromocytoma and paraganglioma. ( 28043156 )
2017
11
Is there an optimal preoperative management strategy for phaeochromocytoma/paraganglioma? ( 27696513 )
2017
12
The Penetrance of Paraganglioma and Pheochromocytoma in SDHB germline mutation carriers. ( 28503760 )
2017
13
Raynaud's Phenomenon: Revisiting a Rare Sign of Pheochromocytoma and Paraganglioma. ( 28431994 )
2017
14
Phaeochromocytoma and Paraganglioma. ( 27888488 )
2016
15
Familial paraganglioma syndrome: a rare cause of carotid artery occlusion. ( 27766470 )
2016
16
Dynamic Contrast-Enhanced MRI in the Evaluation of Carotid Space Paraganglioma versus Schwannoma. ( 27102237 )
2016
17
A Rarity in a Common Disease: Thyroid Paraganglioma. ( 28011310 )
2016
18
Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes. ( 27867439 )
2016
19
Precision medicine in pheochromocytoma and paraganglioma: current and future concepts. ( 27165774 )
2016
20
Systemic Inflammatory Syndrome Associated with a Case of Jugular Paraganglioma. ( 27477424 )
2016
21
Attention Deficit Hyperactivity Disorder in Pediatric Patients with Pheochromocytoma and Paraganglioma. ( 27171833 )
2016
22
Apoplectic presentation of a cauda equina paraganglioma. ( 27127702 )
2016
23
Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome. ( 27679736 )
2016
24
Thyroid Paraganglioma: Our Experience and Systematic Review of the Literature on a Rare Tumor. ( 27163832 )
2016
25
Symptomatic trigeminal neuralgia and nocturnal thunderclap headache resulting from a carotid paraganglioma. ( 27226004 )
2016
26
(68)Ga-DOTATATE and (18)F-FDG PET/CT in Paraganglioma and Pheochromocytoma: utility, patterns and heterogeneity. ( 27535829 )
2016
27
Cases of remission of psychosis following resection of pheochromocytoma or paraganglioma. ( 27534680 )
2016
28
Paraganglioma of the filum terminale mimicking neurinoma: Case report. ( 27069748 )
2016
29
Laparoscopic resection of a paraganglioma in the organ of Zuckerkandl (123)I-metaiodobenzylguanidine guided by gamma probe. ( 27890387 )
2016
30
Diagnosis and Management of Hereditary Phaeochromocytoma and Paraganglioma. ( 27075351 )
2016
31
Secretory paraspinal paraganglioma of thoracolumar spine: Case report and review of literature. ( 27999715 )
2016
32
Urinary dopamine in psychotic disorders is similar to that of pheochromocytoma and paraganglioma. ( 27653463 )
2016
33
Bladder Paraganglioma: Clinicopathology and Magnetic Resonance Imaging Study of Five Patients. ( 27085560 )
2016
34
Rapid-sequence MRI for long-term surveillance for paraganglioma and phaeochromocytoma in patients with succinate dehydrogenase (SDHx) mutations. ( 27634942 )
2016
35
Right Atrial Paraganglioma: An Extremely Rare Primary Cardiac Neoplasm Mimicking Myxoma. ( 28090263 )
2016
36
Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations. ( 27986441 )
2016
37
ANNALS EXPRESS: Single-centre study of the diagnostic performance of plasma metanephrines with seated sampling for the diagnosis of phaeochromocytoma/paraganglioma. ( 27170024 )
2016
38
Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma. ( 27485256 )
2016
39
Synchronous presentation of nasopharyngeal carcinoma and abdominal paraganglioma with avid 18F-FDG and 68Ga-DOTA-TOC uptake in PET/CT by both tumours. ( 27492845 )
2016
40
Thyroid Paraganglioma Diagnosed by Fine-Needle Aspiration Biopsy, Correlated With Histopathological Findings: Report of a Case. ( 27162199 )
2016
41
Gangliocytic paraganglioma treated with ampullectomy, A case report. ( 27656281 )
2016
42
Cardiac Paraganglioma Resection With Ensuing Left Main Coronary Artery Compromise. ( 27569826 )
2016
43
Posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome after bilateral carotid paraganglioma resection: A case report. ( 26873258 )
2016
44
Paraganglioma of the Seminal Vesicle Case Report and Review of the Literature. ( 28078324 )
2016
45
I-131 Metaiodobenzylguanidine Therapy of Pheochromocytoma and Paraganglioma. ( 27067501 )
2016
46
18F-FDG PET/CT in a Patient With Glomus Vagale Paraganglioma and Eisenmenger Syndrome: Searching for the Missing Link? ( 26673238 )
2016
47
Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome. ( 26960314 )
2016
48
Clinical Significance of Quantitative 123I-MIBG SPECT/CT Analysis of Pheochromocytoma and Paraganglioma. ( 27607159 )
2016
49
HuR in pheochromocytomas and paragangliomas - overexpression in verified malignant tumors. ( 27357268 )
2016
50
Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas. ( 26652933 )
2016

Variations for Paraganglioma

Cosmic variations for Paraganglioma:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM18097 VHL autonomic ganglia,head neck,paraganglioma,benign c.482G>A p.R161Q 7

Copy number variations for Paraganglioma from CNVD:

7 (show all 12)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13356 1 1 125000000 Loss Paraganglioma
2 15474 1 115900000 117600000 Deletion SDHB Paraganglioma
3 16419 1 124300000 128000000 In SDHC Paraganglioma
4 45379 10 70600000 135534747 Loss Paraganglioma
5 48331 3 10158318 10168746 Deletion VHL Paraganglioma
6 48508 11 1 53700000 Copy number Paraganglioma
7 76421 13 31100000 77800000 Gain Paraganglioma
8 82836 14 17600000 107349540 Loss Paraganglioma
9 106794 17 1 22200000 In NF1 Paraganglioma
10 107002 17 11200000 15900000 Deletion Paraganglioma
11 107512 17 15900000 22100000 Deletion Paraganglioma
12 160381 22 14700000 51304566 Loss Paraganglioma

Expression for Paraganglioma

Search GEO for disease gene expression data for Paraganglioma.

Pathways for Paraganglioma

GO Terms for Paraganglioma

Cellular components related to Paraganglioma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 FH SDHA SDHAF2 SDHB SDHC SDHD
2 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

Biological processes related to Paraganglioma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 respiratory electron transport chain GO:0022904 9.37 SDHA SDHB
2 regulation of long-term neuronal synaptic plasticity GO:0048169 9.32 NF1 SYP
3 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.26 NF1 RET
4 succinate metabolic process GO:0006105 9.16 SDHA SDHB
5 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHA SDHAF2 SDHD
6 tricarboxylic acid cycle GO:0006099 9.1 FH SDHA SDHAF2 SDHB SDHC SDHD

Molecular functions related to Paraganglioma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC
3 ubiquinone binding GO:0048039 9.26 SDHB SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHD
5 succinate dehydrogenase activity GO:0000104 8.8 SDHA SDHC SDHD

Sources for 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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