MCID: PRG013
MIFTS: 57

Paraganglioma

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

Aliases & Classifications for Paraganglioma

MalaCards integrated aliases for Paraganglioma:

Name: Paraganglioma 12 72 28 51 41 14 69
Chemodectoma 12 72
Extra-Adrenal Paraganglioma 69
Carotid Body Paraganglioma 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0050773
MeSH 41 D010235
NCIt 46 C3308

Summaries for Paraganglioma

MalaCards based summary : Paraganglioma, also known as chemodectoma, is related to paragangliomas 1 and paraganglioma and gastric stromal sarcoma, 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 Neuroscience and Glucose / Energy Metabolism. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include testes, thyroid and lung, and related phenotypes are Decreased sensitivity to paclitaxel and homeostasis/metabolism

Wikipedia : 72 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 1
Paragangliomas 2 Paragangliomas 3
Paragangliomas 5 Nonsyndromic Paraganglioma

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

(show top 50) (show all 310)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 34.4 SDHB SDHC SDHD
2 paraganglioma and gastric stromal sarcoma 34.3 SDHB SDHC SDHD
3 carney triad 33.1 SDHA SDHB SDHC SDHD
4 hereditary paraganglioma-pheochromocytoma syndromes 32.4 FH RET SDHA SDHAF2 SDHB SDHC
5 chondroma 30.8 SDHB SDHC SDHD
6 gastric leiomyosarcoma 30.3 ENO2 SDHD
7 gastrointestinal stromal tumor 30.1 CHGA ENO2 NF1 SDHA SDHB SDHC
8 ganglioneuroma 29.9 CHGA ENO2 RET SYP
9 extra-adrenal pheochromocytoma 29.9 SDHAF2 SDHB SDHC SDHD
10 gastrointestinal neuroendocrine tumor 29.9 CHGA SYP
11 gastric leiomyoma 29.7 CHGA FH
12 glomus tumor 29.7 ENO2 SDHB SDHD SYP
13 sporadic pheochromocytoma 29.5 NF1 RET SDHB SDHC SDHD VHL
14 mitochondrial complex ii deficiency 29.3 SDHA SDHAF2 SDHB SDHC SDHD
15 renal cell carcinoma, nonpapillary 29.2 ENO2 FH SDHB SDHC VHL
16 multiple endocrine neoplasia, type iib 29.1 CALCA RET
17 meningioma, familial 29.1 NF1 SST SYP
18 parathyroid adenoma 29.1 CALCA CHGA RET
19 von hippel-lindau syndrome 29.0 CHGA NF1 RET SDHB SDHC SDHD
20 somatostatinoma 28.9 CALCA CHGA ENO2 SST
21 vipoma 28.8 CALCA CHGA SST
22 merkel cell carcinoma 28.8 CHGA ENO2 SST SYP
23 multiple endocrine neoplasia, type iia 28.6 CALCA NF1 RET SDHB SDHD
24 phaeochromocytoma 28.6 CHGA NF1 RET SDHAF2 SDHB SDHC
25 thyroid carcinoma, familial medullary 28.4 CALCA CHGA ENO2 RET SST
26 pheochromocytoma 28.4 CALCA CHGA ENO2 FH NF1 RET
27 multiple endocrine neoplasia, type i 28.3 CHGA RET SDHB SDHD SST SYP
28 neurofibromatosis, type iv, of riccardi 28.3 NF1 RET SDHB SDHC SDHD SST
29 multiple endocrine neoplasia 28.3 CALCA CHGA NF1 RET SDHB SDHC
30 neuroendocrine tumor 28.2 CALCA CHGA ENO2 SDHD SST SYP
31 duodenal somatostatinoma 28.1 CALCA ENO2 NF1 SST
32 paragangliomas 2 12.3
33 paragangliomas 3 12.3
34 nonsyndromic paraganglioma 12.3
35 paragangliomas 4 12.3
36 paragangliomas 5 12.3
37 multiple paragangliomas associated with polycythemia 12.0
38 non-functioning paraganglioma 12.0
39 chemodectoma, intraabdominal, with cutaneous angiolipomas 11.9
40 abdominal chemodectomas with cutaneous angiolipomas 11.9
41 non-secreting chemodectoma 11.9
42 sporadic secreting paraganglioma 11.8
43 glomus vagale tumor 11.5
44 neuroblastoma 11.2
45 glomus tympanicum tumor 11.1
46 acromegaly 10.9
47 carotid body cancer 10.8
48 lymphatic system disease 10.4 SDHB SDHC SDHD
49 ureter small cell carcinoma 10.4 CHGA SYP
50 esophageal neuroendocrine tumor 10.4 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:

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.96 SDHA SDHB SDHC SDHD SST CHGA
2 mortality/aging MP:0010768 9.85 RET SDHA SDHB SDHC SDHD SST
3 normal MP:0002873 9.5 RET SDHB SDHD SST SYP VHL
4 renal/urinary system MP:0005367 9.1 SDHB CHGA VHL FH NF1 RET

Drugs & Therapeutics for Paraganglioma

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

(show top 50) (show all 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4,Phase 3 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4,Phase 3 59-96-1 4768
3 Adrenergic Agents Phase 4,Phase 3
4 Adrenergic alpha-1 Receptor Antagonists Phase 4,Phase 3
5 Adrenergic alpha-Antagonists Phase 4,Phase 3
6 Adrenergic Antagonists Phase 4,Phase 3
7 Antihypertensive Agents Phase 4,Phase 3
8 Neurotransmitter Agents Phase 4,Phase 3
9 Vasodilator Agents Phase 4,Phase 3
10
Somatostatin Approved, Investigational 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, Investigational Phase 3 135968-09-1
14
Mechlorethamine Approved, Investigational 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 Hormone Antagonists Phase 2, Phase 3,Phase 1
19 Hormones Phase 2, Phase 3,Phase 1
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
21 Alkylating Agents Phase 3,Phase 1
22 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
23 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
24 Isophosphamide mustard Phase 3 0
25 Topoisomerase Inhibitors Phase 3,Phase 2
26
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
27
Iodine Approved, Investigational Phase 1, Phase 2 7553-56-2 807
28
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
29
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
30
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
31 Racepinephrine Approved Phase 2 329-65-7
32
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
33
Octreotide Approved, Investigational Phase 1, Phase 2 83150-76-9 6400441 383414
34
Carbidopa Approved Phase 2 28860-95-9 38101 34359
35
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
36
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
37
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
38
Tamoxifen Approved Phase 2 10540-29-1 2733526
39
Lenvatinib Approved, Investigational Phase 2 417716-92-8
40
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
41
nivolumab Approved Phase 2 946414-94-4
42
Pembrolizumab Approved Phase 2 1374853-91-4
43
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
44
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
45
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
46 Pancreatic Polypeptide Investigational Phase 2,Phase 1 59763-91-6
47 Angiogenesis Inhibitors Phase 2
48 Angiogenesis Modulating Agents Phase 2
49 cadexomer iodine Phase 1, Phase 2
50 Antifungal Agents Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 73)

# Name Status NCT ID Phase Drugs
1 Phenoxybenzamine Versus Doxazosin in PCC Patients Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
2 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 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 123I-meta-iodobenzylguanidine
5 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3 Indium-111 pentetreotide
6 Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3 123I-mIBG (meta-iodobenzylguanidine)
7 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
8 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
9 Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
10 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
11 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2 Sunitinib
12 Phase 1 Study of Iobenguane (MIBG) I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2 Ultratrace Iobenguane (MIBG) I 131
13 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2 RAD001
14 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
15 GA-69 DOTA-TATE Imaging of Somatostatin R+ Malignancies Completed NCT02177773 Phase 1, Phase 2 Gallium Ga 68-Edotreotide
16 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
17 Leprosy Skin Test Antigens Trial Completed NCT00128193 Phase 2
18 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Completed NCT00843531 Phase 2 RAD001;erlotinib
19 131MIBG to Treat Malignant Pheochromocytoma Completed NCT00028106 Phase 2 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
20 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 Fostamatinib disodium
21 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
22 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
23 Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib
24 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2 Lenvatinib
25 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;Amino Acid solution
26 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 Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)
27 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
28 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
29 PEN-221 in Somatostatin Receptor 2 Expressing Advanced Cancers Including Neuroendocrine and Small Cell Lung Cancers Recruiting NCT02936323 Phase 1, Phase 2 PEN-221
30 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
31 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2 Pembrolizumab
32 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 Axitinib (AG-013736)
33 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
34 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2 Dovitinib
35 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
36 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
37 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
38 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
39 Cixutumumab, Everolimus, and Octreotide Acetate in Treating Patients With Advanced Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT01204476 Phase 1 Everolimus;Octreotide Acetate
40 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
41 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib
42 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 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 Vandetanib
45 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
46 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation Unknown status NCT02186678
47 Specificity of Elevated Plasma EM66 Levels in Pheochromocytoma Completed NCT01022515
48 Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers Completed NCT00188019
49 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407
50 Efficacy and Safety of Posterior Retroperitoneoscopic Adrenalectomy: A Comparative Study Completed NCT02618694

Search NIH Clinical Center for Paraganglioma

Cochrane evidence based reviews: paraganglioma

Genetic Tests for Paraganglioma

Genetic tests related to Paraganglioma:

# Genetic test Affiliating Genes
1 Paraganglioma 28

Anatomical Context for Paraganglioma

MalaCards organs/tissues related to Paraganglioma:

38
Testes, Thyroid, Lung, Liver, Bone, Endothelial, Lymph Node

Publications for Paraganglioma

Articles related to Paraganglioma:

(show top 50) (show all 1098)
# Title Authors Year
1
Metabolic implications of hypoxia and pseudohypoxia in pheochromocytoma and paraganglioma. ( 29450727 )
2018
2
VMAT Stereotactic Body Radiation Therapy in a Multimodal Approach to a Carotid Paraganglioma in a Dog. ( 29372869 )
2018
3
DIAGNOSIS of ENDOCRINE DISEASE: SDHx mutations: beyond pheochromocytomas and paragangliomas. ( 28924001 )
2018
4
Application of Three-Dimensional Visualization Technology in Laparoscopic Surgery for Pheochromocytoma/Paraganglioma: A Single-Center Experience. ( 29406808 )
2018
5
Molecular imaging and theranostic approaches in pheochromocytoma and paraganglioma. ( 29450723 )
2018
6
Genomic Landscape of Pheochromocytoma and Paraganglioma. ( 29413423 )
2018
7
Paraganglioma of the Urinary Bladder: A Rare Cause of Hypertension and Urinary Tract Infections. ( 29406048 )
2018
8
Case - Bladder paraganglioma in a pediatric patient. ( 29405904 )
2018
9
Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma. ( 29427212 )
2018
10
Predicting Genotype with Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma. ( 29391129 )
2018
11
Carotid body paraganglioma: a rare pathology but not to be forgotten. ( 29431492 )
2018
12
Functional paraganglioma in the right atrium. ( 29424747 )
2018
13
Detection of brown adipose tissue by<sup>18</sup>F-FDG PET/CT in pheochromocytoma/paraganglioma: A systematic review. ( 29443440 )
2018
14
Pheochromocytoma/Paraganglioma: A Poster Child for Cancer Metabolism. ( 29409060 )
2018
15
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )
2018
16
Pheochromocytoma and paraganglioma: genotype versus anatomic location as determinants of tumor phenotype. ( 29362886 )
2018
17
A rare case of spinal cord compression due to cervical spine metastases from paraganglioma of the jugular foramen-how should it be treated? ( 29423169 )
2018
18
Pathology and genetics of phaeochromocytoma and paraganglioma. ( 29239044 )
2018
19
Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: A nationwide study and systematic review. ( 29361475 )
2018
20
Clinical Predictors of Malignancy in Patients with Pheochromocytoma and Paraganglioma. ( 28884434 )
2017
21
Thoracic dumbbell-shaped paraganglioma arising in extra-adrenal area: A case report and literature review. ( 28916220 )
2017
22
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations. ( 28374168 )
2017
23
Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing. ( 29332973 )
2017
24
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste. ( 28837713 )
2017
25
Successful response to pegylated interferon alpha in a patient with recurrent paraganglioma. ( 27895137 )
2017
26
Plasma Methoxytyramine: Clinical Utility with Metanephrines for Diagnosis of Pheochromocytoma and Paraganglioma. ( 28476870 )
2017
27
Review of sequencing platforms and their applications in phaeochromocytoma and paragangliomas. ( 28693800 )
2017
28
Is there an optimal preoperative management strategy for phaeochromocytoma/paraganglioma? ( 27696513 )
2017
29
Perioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel-Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1. ( 28919049 )
2017
30
New Perspectives on Pheochromocytoma and Paraganglioma: Towards a Molecular Classification. ( 28938417 )
2017
31
The clinical genetics of phaeochromocytoma and paraganglioma. ( 29166454 )
2017
32
Multimodality Radionuclide Imaging in a Patient With Hereditary Paraganglioma-Pheochromocytoma Syndrome. ( 28902732 )
2017
33
68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Extra-adrenal Paraganglioma in a Case of Complete Carney Triad. ( 29076898 )
2017
34
TGastric Ulcers Related to The Transarterial Radioembolization of Yittrium-90 in A Patient with Paraganglioma. ( 29364108 )
2017
35
New Insights into the Nuclear Imaging Phenotypes of Cluster 1 Pheochromocytoma and Paraganglioma. ( 28867159 )
2017
36
Phaeochromocytoma and Paraganglioma Excision Involving the Great Vessels. ( 28856331 )
2017
37
Intrapericardial paraganglioma: The role of integrated advanced multi-modality cardiac imaging for the assessment and management of rare primary cardiac tumors. ( 28831780 )
2017
38
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. ( 28384794 )
2017
39
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
40
Favorable and Durable Response to Pazopanib in Metastatic Refractory Paraganglioma. ( 28850312 )
2017
41
Peripancreatic paraganglioma mimics pancreatic/gastrointestinal neuroendocrine tumor on fine needle aspiration: Report of two cases and review of the literature. ( 28560856 )
2017
42
AA Amylodisis Associated with Jugular Paraganglioma as a Rare Cause of Chronic Diarrhea. ( 28848772 )
2017
43
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste-Reply. ( 28837712 )
2017
44
Surgical Treatment of Malignant Pheochromocytoma and Paraganglioma: Retrospective Case Series. ( 28058556 )
2017
45
Absence of BRAF mutation in pheochromocytoma and paraganglioma. ( 28043156 )
2017
46
Minimally invasive partial cystectomy with bilateral vesico-ureteric junction resection and reimplantation for a large paraganglioma involving urinary bladder trigone. ( 29410889 )
2017
47
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas. ( 28099933 )
2017
48
Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India. ( 28432847 )
2017
49
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
50
Raynaud's Phenomenon: Revisiting a Rare Sign of Pheochromocytoma and Paraganglioma. ( 28431994 )
2017

Variations for Paraganglioma

Cosmic variations for Paraganglioma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM6444480 VHL autonomic ganglia,abdomen,paraganglioma,benign c.191G>C p.R64P 8
2 COSM18097 VHL autonomic ganglia,head neck,paraganglioma,benign c.482G>A p.R161Q 8
3 COSM496 HRAS autonomic ganglia,abdomen,paraganglioma,benign c.181C>A p.Q61K 8
4 COSM486 HRAS autonomic ganglia,abdomen,paraganglioma,benign c.37G>C p.G13R 8
5 COSM499 HRAS autonomic ganglia,abdomen,paraganglioma,benign c.182A>G p.Q61R 8
6 COSM6188660 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1592C>T p.P531L 8
7 COSM6444478 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1615G>T p.D539Y 8
8 COSM6188568 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1589C>T p.A530V 8
9 COSM6476264 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1600C>A p.P534T 8
10 COSM6476263 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1599C>G p.I533M 8

Copy number variations for Paraganglioma from CNVD:

7 (show all 12)
# 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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 FH SDHA SDHAF2 SDHB SDHC SDHD
2 neuronal cell body GO:0043025 9.56 CALCA ENO2 RET SST
3 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
4 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of osteoclast differentiation GO:0045671 9.49 CALCA NF1
2 respiratory electron transport chain GO:0022904 9.48 SDHA SDHB
3 regulation of long-term neuronal synaptic plasticity GO:0048169 9.46 NF1 SYP
4 response to pain GO:0048265 9.43 CALCA RET
5 electron transport chain GO:0022900 9.43 SDHA SDHB SDHC
6 positive regulation of cAMP metabolic process GO:0030816 9.4 CALCA CHGA
7 positive regulation of adenylate cyclase activity GO:0045762 9.37 CALCA NF1
8 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.32 NF1 RET
9 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHA SDHAF2 SDHC SDHD
10 succinate metabolic process GO:0006105 9.16 SDHA SDHB
11 tricarboxylic acid cycle GO:0006099 9.1 FH SDHA SDHAF2 SDHB SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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