MCID: PRG013
MIFTS: 56

Paraganglioma

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

Aliases & Classifications for Paraganglioma

MalaCards integrated aliases for Paraganglioma:

Name: Paraganglioma 12 76 29 55 44 15 40 73
Chemodectoma 12 76
Extra-Adrenal Paraganglioma 73
Carotid Body Paraganglioma 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050773
MeSH 44 D010235
NCIt 50 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 SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Neuroscience and Carbon metabolism. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include testes, thyroid and bone, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 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 308)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 34.7 SDHB SDHC SDHD
2 paraganglioma and gastric stromal sarcoma 34.7 SDHB SDHC SDHD
3 carney triad 33.3 SDHA SDHB SDHC SDHD
4 hereditary paraganglioma-pheochromocytoma syndromes 31.2 MAX RET SDHA SDHAF2 SDHB SDHC
5 chondroma 31.2 SDHB SDHC SDHD
6 gastric leiomyosarcoma 30.3 ENO2 SDHD
7 extra-adrenal pheochromocytoma 30.3 SDHAF2 SDHB SDHC SDHD
8 vipoma 29.7 CHGA SST
9 somatostatinoma 29.4 CHGA ENO2 SST
10 mitochondrial complex ii deficiency 29.3 SDHA SDHAF2 SDHB SDHC SDHD
11 glomus tumor 29.3 ENO2 SDHB SDHD SYP
12 cystic teratoma 29.2 ENO2 SYP
13 intestinal pseudo-obstruction 29.0 RET SST SYP
14 gastrointestinal neuroendocrine tumor 29.0 CHGA SST SYP
15 ganglioneuroma 29.0 CHGA ENO2 RET SYP
16 multiple endocrine neoplasia, type iia 28.9 NF1 RET SDHB SDHD
17 thyroid carcinoma, familial medullary 28.6 CHGA ENO2 RET SST
18 neuroendocrine tumor 28.2 CHGA ENO2 SDHD SST SYP
19 duodenal somatostatinoma 28.2 ENO2 NF1 SST
20 carcinoid syndrome 28.2 CHGA ENO2 SST SYP
21 gastrointestinal stromal tumor 28.0 CHGA ENO2 NF1 SDHA SDHB SDHC
22 neurofibromatosis, type iv, of riccardi 27.9 NF1 RET SDHB SDHC SDHD VHL
23 merkel cell carcinoma 27.9 CHGA ENO2 SST SYP
24 multiple endocrine neoplasia 27.8 CHGA NF1 RET SDHB SDHC VHL
25 sporadic pheochromocytoma 27.7 MAX NF1 RET SDHB SDHC SDHD
26 multiple endocrine neoplasia, type i 27.4 CHGA RET SDHB SDHD SST SYP
27 phaeochromocytoma 27.3 CHGA NF1 RET SDHAF2 SDHB SDHC
28 von hippel-lindau syndrome 27.0 CHGA NF1 RET SDHB SDHC SDHD
29 pheochromocytoma 25.2 CHGA ENO2 MAX NF1 RET SDHA
30 paragangliomas 2 12.4
31 paragangliomas 3 12.4
32 paragangliomas 4 12.3
33 paragangliomas 5 12.3
34 nonsyndromic paraganglioma 12.3
35 abdominal chemodectomas with cutaneous angiolipomas 12.2
36 multiple paragangliomas associated with polycythemia 12.0
37 non-functioning paraganglioma 12.0
38 sporadic secreting paraganglioma 11.8
39 glomus vagale tumor 11.5
40 neuroblastoma 11.2
41 glomus tympanicum tumor 11.1
42 acromegaly 10.8
43 carotid body cancer 10.8
44 lymphatic system disease 10.6 SDHB SDHC SDHD
45 hypoganglionosis 10.4 RET SYP
46 esophageal neuroendocrine tumor 10.4 CHGA SYP
47 thyroiditis 10.4
48 gastrointestinal neuroendocrine benign tumor 10.4 CHGA SST
49 ovarian large-cell neuroendocrine carcinoma 10.4 CHGA SYP
50 acinar cell cystadenocarcinoma 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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.94 RET NF1 SDHD VHL
2 Decreased viability GR00221-A-2 9.94 MAX RET NF1 SDHD VHL
3 Decreased viability GR00221-A-3 9.94 MAX
4 Decreased viability GR00221-A-4 9.94 RET NF1 SDHD
5 Decreased viability GR00231-A 9.94 RET
6 Decreased viability GR00301-A 9.94 RET VHL
7 Decreased viability GR00381-A-1 9.94 SDHD
8 Decreased viability GR00402-S-2 9.94 MAX RET NF1 SDHD VHL
9 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Paraganglioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 CHGA NF1 RET SDHA SDHB SDHC
2 mortality/aging MP:0010768 9.65 CHGA MAX NF1 RET SDHA SDHB
3 normal MP:0002873 9.17 SST SYP VHL NF1 RET SDHB

Drugs & Therapeutics for Paraganglioma

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

(show top 50) (show all 121)
# 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,Not Applicable
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,Not Applicable
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,Not Applicable
17 Radiopharmaceuticals Phase 3,Phase 1,Phase 2,Not Applicable
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 Antineoplastic Agents, Alkylating Phase 3,Phase 1
25
Isophosphamide mustard Phase 3 0
26 Topoisomerase Inhibitors Phase 3,Phase 2
27
Iodine Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 7553-56-2 807
28
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
29
Epinephrine Approved, Vet_approved Phase 2,Not Applicable 51-43-4 5816
30
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
31
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
32
Racepinephrine Approved Phase 2,Not Applicable 329-65-7 838
33
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
34
Octreotide Approved, Investigational Phase 1, Phase 2,Phase 2 83150-76-9 383414 6400441
35
Carbidopa Approved Phase 2 28860-95-9 34359 38101
36
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
37
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
38
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
39
Tamoxifen Approved Phase 2 10540-29-1 2733526
40
Lenvatinib Approved, Investigational Phase 2 417716-92-8
41
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
42
nivolumab Approved Phase 2 946414-94-4
43
Pembrolizumab Approved Phase 2 1374853-91-4
44
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
45
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
46
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
47 Pancreatic Polypeptide Investigational Phase 2,Phase 1 59763-91-6
48 cadexomer iodine Phase 1, Phase 2,Phase 2,Not Applicable
49 Angiogenesis Inhibitors Phase 2
50 Angiogenesis Modulating Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 75)
# Name Status NCT ID Phase Drugs
1 Stereotactic Body Radiotherapy for Head and Neck Tumors Unknown status NCT01344356 Phase 4
2 Phenoxybenzamine Versus Doxazosin in PCC Patients Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
3 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 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 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
12 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2 Sunitinib
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 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
30 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2 Pembrolizumab
31 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)
32 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
33 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2 Dovitinib
34 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
35 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
36 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
37 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
38 Cixutumumab, Everolimus, and Octreotide Acetate in Treating Patients With Advanced Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT01204476 Phase 1 Everolimus;Octreotide Acetate
39 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
40 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib
41 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
42 Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer Terminated NCT00002947 Phase 1
43 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
44 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
45 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation Unknown status NCT02186678 Not Applicable
46 Specificity of Elevated Plasma EM66 Levels in Pheochromocytoma Completed NCT01022515
47 Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers Completed NCT00188019 Not Applicable
48 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407 Not Applicable
49 Efficacy and Safety of Posterior Retroperitoneoscopic Adrenalectomy: A Comparative Study Completed NCT02618694 Not Applicable
50 Non-invasive Evaluation of Fluid Status and Cardiac Output During Operative Treatment of Pheochromcytoma Completed NCT01425710

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 29

Anatomical Context for Paraganglioma

MalaCards organs/tissues related to Paraganglioma:

41
Testes, Thyroid, Bone, Liver, Lung, Endothelial, Pituitary

Publications for Paraganglioma

Articles related to Paraganglioma:

(show top 50) (show all 1364)
# Title Authors Year
1
Pediatric paraganglioma of the posterior mediastinum: A case report and review of literature. ( 29979384 )
2018
2
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
3
VMAT Stereotactic Body Radiation Therapy in a Multimodal Approach to a Carotid Paraganglioma in a Dog. ( 29372869 )
2018
4
68Ga-PSMA-HBED-CC-Avid Synchronous Urinary Bladder Paraganglioma in a Patient With Metastatic Prostate Carcinoma. ( 29916916 )
2018
5
Paraganglioma of the Urinary Bladder: A Rare Cause of Hypertension and Urinary Tract Infections. ( 29406048 )
2018
6
Successful Resection of a Non-functional Paraganglioma with Celiac Trunk Invasion Followed by Common Hepatic Artery Reimplantation - A Case Report and Literature Review. ( 29936479 )
2018
7
A Long-Standing Primary Vaginal Paraganglioma-Coexisting with Esophageal Carcinoma. ( 29887722 )
2018
8
Oropharyngeal paraganglioma presenting with stridor: an unusual presentation. ( 29973412 )
2018
9
Carotid body paraganglioma: a rare pathology but not to be forgotten. ( 29431492 )
2018
10
Pathogenicity and Penetrance of Germline <i>SDHA</i> Variants in Pheochromocytoma and Paraganglioma (PPGL). ( 29978154 )
2018
11
Results of a systematic literature review of treatment modalities for jugulotympanic paraganglioma, stratified per Fisch class. ( 29222838 )
2018
12
PHD2 inactivation in Type I cells drives HIF-2I+ dependent multi-lineage hyperplasia and the formation of paraganglioma-like carotid bodies. ( 29917232 )
2018
13
Role of DOTATATE-PET/CT in preoperative assessment of phaeochromocytoma and paragangliomas. ( 29741215 )
2018
14
Retroperitoneal paraganglioma in a patient with Fontan: The hypoxia connection. ( 29922019 )
2018
15
Functional Ulnar Nerve Paraganglioma: First Documented Occurrence in the Extremity With Hitherto Undescribed Associated Extensive Glomus Cell Hyperplasia and Tumorlet Formation. ( 28697655 )
2018
16
Immediate Clinical Success After Percutaneous Ablation of Extra-adrenal Paraganglioma. ( 29922859 )
2018
17
Case - Bladder paraganglioma in a pediatric patient. ( 29405904 )
2018
18
Molecular imaging and theranostic approaches in pheochromocytoma and paraganglioma. ( 29450723 )
2018
19
Diagnosis of paraganglioma as a pancreatic mass: A case report. ( 29882285 )
2018
20
Application of Three-Dimensional Visualization Technology in Laparoscopic Surgery for Pheochromocytoma/Paraganglioma: A Single-Center Experience. ( 29406808 )
2018
21
Pathology and genetics of phaeochromocytoma and paraganglioma. ( 29239044 )
2018
22
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )
2018
23
A clinical prediction model to estimate the metastatic potential of pheochromocytoma/paraganglioma: ASES score. ( 29929757 )
2018
24
Metabolic implications of hypoxia and pseudohypoxia in pheochromocytoma and paraganglioma. ( 29450727 )
2018
25
Pheochromocytoma and paraganglioma: genotype versus anatomic location as determinants of tumor phenotype. ( 29362886 )
2018
26
Predicting Genotype with Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma. ( 29391129 )
2018
27
A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated with an SDHC Germline Mutation. ( 29878124 )
2018
28
Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma. ( 29779206 )
2018
29
Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma. ( 29427212 )
2018
30
Genomic Landscape of Pheochromocytoma and Paraganglioma. ( 29413423 )
2018
31
Orbital paraganglioma in infancy: Does it behave more aggressively? ( 29857209 )
2018
32
Pheochromocytoma/Paraganglioma: A Poster Child for Cancer Metabolism. ( 29409060 )
2018
33
Germline BRCA1-associated protein 1 mutation presenting as BAP1 inactivated melanocytic nevi in a child of a father with fatal paraganglioma. ( 29974497 )
2018
34
Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. ( 29977594 )
2018
35
Sellar Paraganglioma. ( 29894338 )
2018
36
DIAGNOSIS of ENDOCRINE DISEASE: SDHx mutations: beyond pheochromocytomas and paragangliomas. ( 28924001 )
2018
37
Peritoneal carcinomatosis from ovarian paraganglioma: Report of a rare case and systematic review of the literature. ( 29978527 )
2018
38
Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas. ( 28938490 )
2018
39
Detection of brown adipose tissue by<sup>18</sup>F-FDG PET/CT in pheochromocytoma/paraganglioma: A systematic review. ( 29443440 )
2018
40
The Intra-Pericardial Paraganglioma Presenting as Ascites and Hemopericardium with Impending Tamponade. ( 29681569 )
2018
41
The challenge of improving the diagnostic yield from metanephrine testing in suspected phaeochromocytoma and paraganglioma. ( 29660998 )
2018
42
The importance of standardisation of measurement and reference intervals for detection of phaeochromocytoma and paraganglioma (PPGL). ( 29460105 )
2018
43
Cardiogenic shock and tako-tsubo cardiomyopathy in a 9-year-old girl with retroperitoneal paraganglioma. ( 29903891 )
2018
44
A Novel SDHB IVS2-2A&amp;gt;C Mutation Is Responsible for Hereditary Pheochromocytoma/Paraganglioma Syndrome. ( 29925701 )
2018
45
Re-operative Surgery for Pheochromocytoma-Paraganglioma: Analysis of 13 Cases from a Single Institution. ( 29915477 )
2018
46
High specificity of spot urinary free metanephrines in diagnosis and prognosis of pheochromocytomas and paragangliomas by HPLC with electrochemical detection. ( 29273559 )
2018
47
Functional paraganglioma in the right atrium. ( 29424747 )
2018
48
Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: A nationwide study and systematic review. ( 29361475 )
2018
49
Outcomes of patients with metastatic phaeochromocytoma and paraganglioma: A systematic review and meta-analysis. ( 28746746 )
2017
50
Diagnostic Imaging and Treatment of a Left Atrial Paraganglioma. ( 28878589 )
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 GRCh38 Location Conf
1 COSM18097 VHL autonomic ganglia,head neck,paraganglioma,benign c.482G>A p.R161Q 3:10149805-10149805 8
2 COSM6444480 VHL autonomic ganglia,abdomen,paraganglioma,benign c.191G>C p.R64P 3:10142038-10142038 8
3 COSM496 HRAS autonomic ganglia,abdomen,paraganglioma,benign c.181C>A p.Q61K 11:533875-533875 8
4 COSM486 HRAS autonomic ganglia,abdomen,paraganglioma,benign c.37G>C p.G13R 11:534286-534286 8
5 COSM499 HRAS autonomic ganglia,abdomen,paraganglioma,benign c.182A>G p.Q61R 11:533874-533874 8
6 COSM6188568 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1589C>T p.A530V 2:46380261-46380261 8
7 COSM6444478 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1615G>T p.D539Y 2:46380287-46380287 8
8 COSM6476264 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1600C>A p.P534T 2:46380272-46380272 8
9 COSM6476263 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1599C>G p.I533M 2:46380271-46380271 8
10 COSM6188660 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1592C>T p.P531L 2:46380264-46380264 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 mitochondrial inner membrane GO:0005743 9.46 SDHA 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:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.73 NF1 SST TMEM127 VHL
2 electron transport chain GO:0022900 9.43 SDHA SDHB SDHC
3 respiratory electron transport chain GO:0022904 9.4 SDHA SDHB
4 regulation of long-term neuronal synaptic plasticity GO:0048169 9.37 NF1 SYP
5 tricarboxylic acid cycle GO:0006099 9.35 SDHA SDHAF2 SDHB SDHC SDHD
6 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.32 NF1 RET
7 succinate metabolic process GO:0006105 9.16 SDHA SDHB
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.92 SDHA SDHAF2 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 activity GO:0000104 9.13 SDHA SDHC SDHD
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHA SDHB SDHC SDHD

Sources for Paraganglioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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