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Paraganglioma

Categories: Cancer diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Paraganglioma

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MalaCards integrated aliases for Paraganglioma:

Name: Paraganglioma 11 75 28 53 5 43 14 38 16 71
Extra-Adrenal Paraganglioma 71
Carotid Body Paraganglioma 71
Glomus Body Tumor 11
Paragangliomas 14
Chemodectoma 11

Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases Rare diseases
Anatomical: Endocrine diseases Neuronal diseases Ear diseases Cardiovascular diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:0050773
MeSH 43 D010235
NCIt 49 C3308
SNOMED-CT 68 302833002
UMLS 71 C0007279 C0030421 C0030422
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Summaries for Paraganglioma

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Disease Ontology: 11 A pheochromocytoma that arises in extraadrenal sympathetic ganglia.

MalaCards based summary: Paraganglioma, also known as extra-adrenal paraganglioma, is related to hereditary paraganglioma-pheochromocytoma syndromes and paragangliomas 1, 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Neuroscience. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, spinal cord and thyroid, and related phenotypes are Decreased viability and Increased sensitivity to paclitaxel

Wikipedia: 75 A paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites (including the... more...
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Related Diseases for Paraganglioma

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Diseases in the Paraganglioma family:

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

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

(show top 50) (show all 1012)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 33.4 VHL SDHD SDHC SDHB SDHAF2 SDHA
2 paragangliomas 1 33.4 SDHD SDHC SDHB SDHA
3 nonsyndromic paraganglioma 33.2 SDHB RET CHGA
4 paragangliomas 4 33.1 SDHD SDHB
5 paraganglioma and gastric stromal sarcoma 32.8 SDHD SDHC SDHB SDHAF2 SDHA RET
6 sporadic pheochromocytoma/secreting paraganglioma 32.8 VHL SDHD SDHB RET
7 carney triad 32.7 SDHD SDHC SDHB SDHA KIT
8 pheochromocytoma 32.6 VHL TH SYP SST SDHD SDHC
9 carotid body cancer 32.2 TG SYP SDHD SDHB ENO2 CHGA
10 adrenal gland disease 32.1 SYP SST MEN1 CHGA
11 gastrointestinal stromal tumor 32.0 SYP SST SDHD SDHC SDHB SDHAF2
12 neuroendocrine tumor 32.0 SYP SST SDHD RET NF1 MEN1
13 bap1 tumor predisposition syndrome 31.6 VHL SDHD SDHC SDHB SDHAF2 SDHA
14 inherited cancer-predisposing syndrome 31.6 VHL SDHD SDHC SDHB SDHAF2 SDHA
15 carcinoid tumors, intestinal 31.5 SYP SST MEN1 ENO2 CHGA
16 neurofibromatosis 31.4 VHL SDHD SDHC SDHB RET NF1
17 malignant pheochromocytoma 31.3 SYP SST SDHD SDHC SDHB SDHAF2
18 adenoma 31.3 TG SYP SST RET MEN1 HRAS
19 multiple endocrine neoplasia, type iia 31.3 VHL SDHD SDHC SDHB SDHAF2 SDHA
20 neurilemmoma 31.3 SYP NF1 KIT ENO2
21 extra-adrenal pheochromocytoma 31.2 SYP SDHD SDHC SDHB SDHAF2 SDHA
22 ganglioneuroma 31.2 TH SYP SST RET PNMT ENO2
23 carcinoid syndrome 31.2 SYP SST SDHD ENO2 CHGA CALCA
24 mitochondrial complex ii deficiency 31.2 SDHD SDHC SDHB SDHAF2 SDHA
25 thyroid carcinoma, familial medullary 31.2 VHL TG SST RET MEN1 CHGA
26 pituitary adenoma 31.2 SST RET MEN1 CHGA
27 mediastinal cancer 31.2 SYP KIT ENO2 CHGA
28 multiple endocrine neoplasia 31.1 VHL TH TG SYP SST SDHD
29 neurofibromatosis, type i 31.1 VHL SST SDHD SDHC SDHB SDHA
30 thyroid gland medullary carcinoma 31.1 TG SYP SST RET MEN1 CHGA
31 chondroma 31.1 SDHD SDHC SDHB SDHAF2 SDHA NF1
32 conn's syndrome 31.1 TH SYP SST RET MEN1 CHGA
33 von hippel-lindau syndrome 31.1 VHL TH SYP SST SDHD SDHC
34 leiomyosarcoma 31.1 NF1 KIT FH ENO2
35 glomus tumor 31.0 SYP SDHD SDHB NF1 KIT ENO2
36 renal cell carcinoma, nonpapillary 31.0 VHL SDHC SDHB RET KIT HRAS
37 mitochondrial complex ii deficiency, nuclear type 1 31.0 SDHD SDHA
38 goiter 31.0 TG SST RET HRAS CALCA
39 multiple endocrine neoplasia, type i 31.0 VHL SYP SST SDHD SDHC SDHB
40 meningioma, familial 31.0 SYP SST RET NF1 MEN1 KIT
41 islet cell tumor 31.0 SYP SST RET MEN1 ENO2 CHGA
42 neuroblastoma 30.9 TH SYP SST SDHB RET NF1
43 hemangioma 30.9 VHL SYP RET MEN1 KIT ENO2
44 neural crest tumor 30.9 SDHD SDHC SDHB SDHAF2 SDHA
45 somatostatinoma 30.9 SST NF1 MEN1 ENO2 CHGA CALCA
46 neuroma 30.8 RET NF1 KIT ENO2 CALCA
47 horner's syndrome 30.8 TG SYP SDHD SDHB NF1 ENO2
48 leiomyomatosis 30.8 VHL SDHB FH
49 hyperparathyroidism 30.8 RET MEN1 CHGA CALCA
50 endocrine gland cancer 30.8 SYP SST RET CHGA

Graphical network of the top 20 diseases related to Paraganglioma:



Diseases related to Paraganglioma
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Symptoms & Phenotypes for Paraganglioma

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UMLS symptoms related to Paraganglioma:


aphonia

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

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.55 HRAS
2 Decreased viability GR00055-A-2 10.55 HRAS
3 Decreased viability GR00221-A-1 10.55 HRAS NF1 RET SDHD VHL KIT
4 Decreased viability GR00221-A-2 10.55 HRAS NF1 RET SDHD VHL
5 Decreased viability GR00221-A-3 10.55 HRAS
6 Decreased viability GR00221-A-4 10.55 NF1 RET SDHD
7 Decreased viability GR00249-S 10.55 NF1 SDHD VHL
8 Decreased viability GR00301-A 10.55 RET VHL KIT
9 Decreased viability GR00381-A-1 10.55 SDHD
10 Decreased viability GR00386-A-1 10.55 NF1
11 Decreased viability GR00402-S-2 10.55 RET
12 no effect GR00402-S-1 10.2 CALCA CHGA ENO2 FH HRAS KIT
13 no effect GR00402-S-2 10.2 CALCA CHGA FH HRAS KIT MEN1
14 Increased sensitivity to paclitaxel GR00112-A-0 8.65 VHL

MGI Mouse Phenotypes related to Paraganglioma:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 CALCA CHGA FH HRAS KIT MEN1
2 nervous system MP:0003631 10.4 CALCA CHGA ENO2 HRAS KIT MEN1
3 normal MP:0002873 10.36 CALCA HRAS KIT MEN1 NF1 PNMT
4 growth/size/body region MP:0005378 10.33 CHGA ENO2 HRAS KIT MEN1 NF1
5 neoplasm MP:0002006 10.3 CALCA HRAS KIT MEN1 NF1 RET
6 renal/urinary system MP:0005367 10.21 CALCA CHGA FH HRAS KIT NF1
7 endocrine/exocrine gland MP:0005379 10.17 CHGA HRAS KIT MEN1 NF1 RET
8 behavior/neurological MP:0005386 10.13 CALCA ENO2 HRAS KIT MEN1 NF1
9 muscle MP:0005369 10.1 CHGA HRAS KIT MEN1 NF1 RET
10 no phenotypic analysis MP:0003012 10.08 CHGA HRAS KIT RET SDHB SST
11 cardiovascular system MP:0005385 10.06 CALCA CHGA HRAS KIT MEN1 NF1
12 digestive/alimentary MP:0005381 10.01 HRAS KIT MEN1 NF1 RET SST
13 craniofacial MP:0005382 9.91 ENO2 HRAS KIT MEN1 NF1 SDHA
14 respiratory system MP:0005388 9.76 CALCA ENO2 HRAS KIT MEN1 NF1
15 skeleton MP:0005390 9.65 CALCA HRAS KIT MEN1 NF1 SDHA
16 mortality/aging MP:0010768 9.53 CALCA CHGA FH HRAS KIT MEN1
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Drugs & Therapeutics for Paraganglioma

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

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 3 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 3 59-96-1 4768
3 Neurotransmitter Agents Phase 3
4 Antihypertensive Agents Phase 3
5 Adrenergic Antagonists Phase 3
6 Adrenergic alpha-Antagonists Phase 3
7 Adrenergic alpha-1 Receptor Antagonists Phase 3
8 Adrenergic Agents Phase 3
9 Vasodilator Agents Phase 3
10
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
11
Olaparib Approved Phase 2 763113-22-0 23725625
12
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
13
Racepinephrine Approved, Vet_approved Phase 1, Phase 2 51-43-4, 329-65-7 838 5816
14
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
15
Nivolumab Approved Phase 1, Phase 2 946414-94-4
16
Lanreotide Approved Phase 2 108736-35-2 71349 6918011
17
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
18
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
19
Ipilimumab Approved Phase 2 477202-00-9
20
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
21
Sunitinib Approved, Investigational Phase 2 557795-19-4 5329102
22
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
23
Octreotide Approved, Investigational Phase 1, Phase 2 83150-76-9 383414 6400441
24
Arginine Approved, Investigational, Nutraceutical Phase 2 74-79-3 6322
25
Lysine Approved, Nutraceutical Phase 2 56-87-1 5962
26
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Phase 2 63-91-2, 673-06-3 6140 71567
27
Guadecitabine Investigational Phase 2 929901-49-5 112499969
28 Immunosuppressive Agents Phase 2
29 Immunologic Factors Phase 2
30 Alkylating Agents Phase 2
31 Antineoplastic Agents, Alkylating Phase 2
32 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
33 Epinephryl borate Phase 1, Phase 2
34 Fluorodeoxyglucose F18 Phase 2
35 Endothelial Growth Factors Phase 2
36 Mitogens Phase 2
37 Vaccines Phase 1, Phase 2
38 Pharmaceutical Solutions Phase 2
39 Edotreotide lutetium LU-177 Phase 2
40 Immunoglobulins Phase 2
41 Antibodies, Monoclonal Phase 2
42 Antibodies Phase 2
43 Immune Checkpoint Inhibitors Phase 2
44 Antineoplastic Agents, Immunological Phase 2
45 Protein Kinase Inhibitors Phase 2
46 Angiogenesis Inhibitors Phase 2
47 Antimetabolites Phase 2
48 Antineoplastic Agents, Hormonal Phase 1, Phase 2
49 Gastrointestinal Agents Phase 1, Phase 2
50
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Phase IV Trial to Use Stereotactic Body Radiotherapy for Head and Neck Tumors Completed NCT01344356 Phase 4
2 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
3 Randomized Controlled Trial of Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
4 A Phase II Study Evaluating the Efficacy and Safety of Ultratrace Iobenguane I 131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Unknown status NCT00874614 Phase 2
5 A Phase 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Completed NCT01635907 Phase 2 Dovitinib
6 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
7 A Phase I Study Evaluating the Maximum Tolerated Dose, Dosimetry, Safety, and Efficacy of Ultratrace Iobenguane I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2 Ultratrace Iobenguane (MIBG) I 131
8 Phase II Trial of Lenvatinib in Metastatic or Advanced Pheochromocytoma and Paraganglioma Completed NCT03008369 Phase 2 Lenvatinib
9 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Completed NCT01967576 Phase 2 Axitinib (AG-013736)
10 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Completed NCT01371201 Phase 2 Sunitinib;Placebo
11 A Phase II Study of 131I-labeled Metaiodobenzylguanidine (MIBG) for Treatment of Patients With Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
12 A Phase 2 Study of Linsitinib (OSI-906) in Pediatric and Adult Wild Type Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
13 A Phase II Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib S-malate
14 A Prospective, Multi-Institutional Phase II Trial Evaluating Temozolomide vs. Temozolomide and Olaparib for Advanced Pheochromocytoma and Paraganglioma Recruiting NCT04394858 Phase 2 Olaparib;Temozolomide
15 A Phase 2 Study of Anlotinib in Patients With Metastatic Pheochromocytoma or Paraganglioma Recruiting NCT04860700 Phase 2 anlotinib hydrochloride
16 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Recruiting NCT03839498 Phase 2 Axitinib
17 A Phase 1/2 Trial of a Novel Therapeutic Vaccine (EO2401) in Combination With Immune Check Point Blockade, for Treatment of Patients With Locally Advanced or Metastatic Adrenocortical Carcinoma, or Malignant Pheochromocytoma/Paraganglioma Recruiting NCT04187404 Phase 1, Phase 2
18 A Prospective Phase II Efficacy and Safety Study of Anlotinib in Metastatic or Locally Advanced Pheochromocytoma/ Paraganglioma : Open-label Single-arm, Exploratory Trial. Recruiting NCT05133349 Phase 2 Anlotinib
19 A Phase 2 Study to Evaluate the Efficacy and Safety of Belzutifan (MK-6482, Formerly PT2977) Monotherapy in Participants With Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), or Von Hippel-Lindau (VHL) Disease-Associated Tumors Recruiting NCT04924075 Phase 2 Belzutifan
20 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;F-18-FDG;Amino Acid solution
21 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Recruiting NCT03946527 Phase 2 Lanreotide
22 A Multicenter Open-label Study to Evaluate Safety and Dosimetry of Lutathera in Adolescent Patients With Somatostatin Receptor Positive Gastroenteropancreatic Neuroendocrine (GEP-NET) Tumors, Pheochromocytoma and Paragangliomas (PPGL) Recruiting NCT04711135 Phase 2 Lutetium [177Lu] oxodotreotide/dotatate
23 A Phase II, Non-Randomized, Open-Label, Single-center, Physician Sponsored Study to Determine the Safety and Effectiveness of Lu-177 DOTATOC in Adult Subjects With Somatostatin Receptor Expressing Pulmonary, Pheochromocytoma, paragangliomUnknown Primary, and Thymus Neuroendocrine Tumors (PUTNET) or Any Other Non-.GEP-NET. Recruiting NCT04276597 Phase 2 177Lu-DOTATOC
24 Exploratory Basket Trial of Cabozantinib Plus Atezolizumab in Advanced and Progressive Neoplasms of the Endocrine System. CABATEN Study Recruiting NCT04400474 Phase 2 Cabozantinib 40 mg
25 Rapid Analysis and Response Evaluation of Combination Anti-Neoplastic Agents in Rare Tumors (RARE CANCER) Trial: RARE 2 Talazoparib and Temozolomide Recruiting NCT05142241 Phase 2 Talazoparib;Temozolomide
26 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
27 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Active, not recruiting NCT02721732 Phase 2
28 A Investigator Initiated Phase II Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
29 A Phase I/IIa First-in-Human Study of [212Pb]VMT-α-NET Targeted Alpha-Particle Therapy for Advanced SSTR2 Positive Neuroendocrine Tumors Not yet recruiting NCT05636618 Phase 1, Phase 2 [212Pb]VMT-α-NET,
30 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
31 A Phase II Trial of the DNA Methyl Transferase Inhibitor, SGI-110 (Guadecitabine), In Children And Adults With Wild Type GIST, Pheochromocytoma And Paraganglioma Associated With Succinate Dehydrogenase Deficiency And HLRCC-Associated Kidney Cancer Terminated NCT03165721 Phase 2 SGI-110 (guadecitabine)
32 Evaluation of Gallium-68 DOTA-TOC Imaging of Somatostatin Receptor Positive Malignancies Terminated NCT02177773 Phase 1, Phase 2 Gallium Ga 68-Edotreotide
33 A Phase II Study to Evaluate the Effects of 177Lu-DOTATATE in Patients With Unresectable and Progressive Rare Metastatic Endocrine Carcinomas: Medullary Thyroid Cancer, Parathyroid Carcinoma, Pituitary Carcinoma, and Malignant Pheochromocytoma/Paraganglioma Withdrawn NCT04106843 Phase 2 Lutetium Lu 177 Dotatate
34 Phase I Trial of Peptide Receptor Radiotherapy (PRRT) With 177Lu-DOTA-tyr3-Octreotate (177Lu-DOTATATE) in Children and Adolescents With Neuroendocrine Tumor or Pheochromocytoma/Paraganglioma Withdrawn NCT03923257 Phase 1, Phase 2 177Lu-DOTA-tyr3-OCTREOTATE
35 Phase I Clinical Trial of Temsirolimus and Vinorelbine in Advanced Solid Tumors. Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
36 A Phase I Study of SAHA and Temozolomide in Children With Relapsed or Refractory Primary Brain or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
37 Phase 1 Study Evaluating the Safety, Distribution, Metabolism, and Radiation Dosimetry of ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
38 Phase I Study of Anti-IGF-1R Monoclonal Antibody, IMC-A12, and mTOR Inhibitor, Everolimus, in Advanced Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT01204476 Phase 1 Everolimus;Octreotide Acetate
39 Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma Recruiting NCT00004847 Phase 1 ([18F]-DOPA);([18F]-6F-DA)
40 A Phase I Trial of Vandetanib Combined With 131I-mIBG Radiotherapy in Patients With Neuroendocrine Tumours, Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
41 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation: Monocentric Prospective Study Unknown status NCT02186678
42 Expanded Access Program of AZEDRA (Ultratrace Iobenguane I131) in Subjects With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma: A Sub-study of Protocol MIP-IB12B Approved for marketing NCT02961491 Ultratrace Iobenguane I131
43 Compassionate Use of 131I-MIBG for Patients With Malignant Pheochromocytoma Approved for marketing NCT01377532 131 I-Metaiodobenzylguanidine (131 I-MIBG)
44 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407
45 Clinical Application of New Pheochromocytoma Markers: INSERM Pilot Study of the Specificity of Elevated Plasma EM66 Concentrations in Patients With Pheochromocytoma or Paraganglioma Compared to Patients With Essential Hypertension Completed NCT01022515
46 Prospective Cohort Study of Objective Cardiac and Vascular Changes in Pheochromocytoma and Paraganglioma and Their Reversal Following Curative Surgery Completed NCT05082311
47 Evaluation Des méthodes de dépistage du Paragangliome héréditaire Chez Les Sujets prédisposés génétiquement Completed NCT00188019
48 Phase IV Trial Evaluating the Use of Stereotactic Body Radiotherapy for the Treatment of Spine Metastases and Primary Spine Tumors Completed NCT01347307
49 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
50 Infrared Thermography Associated With Cutaneous Microcirculation for Detection of Brown-adipose Tissue: Proof of Concept Against PET-CT in Patients Affected by Pheochomocytoma and/or Paraganglioma Recruiting NCT04605848

Search NIH Clinical Center for Paraganglioma

Cochrane evidence based reviews: paraganglioma

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Genetic Tests for Paraganglioma

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Genetic tests related to Paraganglioma:

# Genetic test Affiliating Genes
1 Paraganglioma 28
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Anatomical Context for Paraganglioma

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Organs/tissues related to Paraganglioma:

MalaCards : Adrenal Gland, Spinal Cord, Thyroid, Pituitary, Lymph Node, Thymus, Prostate
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Publications for Paraganglioma

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Articles related to Paraganglioma:

(show top 50) (show all 8237)
# Title Authors PMID Year
1
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 53 62 5
19454582 2009
2
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. 62 5
34906457 2022
3
A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. 62 5
22517557 2012
4
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 53 62
20503330 2010
5
Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. 53 62
20236688 2010
6
Familial paraganglioma syndromes. 53 62
20498024 2010
7
Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. 53 62
20305538 2010
8
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. 53 62
20071235 2010
9
Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma. 53 62
20398431 2010
10
Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas. 53 62
20130071 2010
11
Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria. 53 62
20111059 2010
12
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. 53 62
19915015 2010
13
Primary paraganglioma of the parathyroid: a case report and clinicopathologic review. 53 62
20237987 2010
14
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. 53 62
19906784 2010
15
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 53 62
19584903 2010
16
Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. 53 62
20205103 2010
17
A large deletion in the succinate dehydrogenase B gene (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant metastasis. 53 62
20379037 2010
18
A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia? 53 62
19768395 2009
19
Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma. 53 62
19956719 2009
20
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 53 62
19215943 2009
21
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. 53 62
19808854 2009
22
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 53 62
19825962 2009
23
Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients. 53 62
19546167 2009
24
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. 53 62
19576851 2009
25
R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma. 53 62
19415531 2009
26
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. 53 62
19522823 2009
27
Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas. 53 62
19596260 2009
28
Multiple endocrine neoplasias: advances and challenges for the future. 53 62
19522821 2009
29
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma. 53 62
19190077 2009
30
Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation. 53 62
19694205 2009
31
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 53 62
19336503 2009
32
Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening? 53 62
19189136 2009
33
Mitochondrial and nuclear genes of mitochondrial components in cancer. 53 62
19949549 2009
34
Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis. 53 62
19432956 2009
35
Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. 53 62
19223516 2009
36
Mutations in the C. elegans succinate dehydrogenase iron-sulfur subunit promote superoxide generation and premature aging. 53 62
19233206 2009
37
[Extra-adrenal pheochromocytoma associated to SDHD gene mutation]. 53 62
19318336 2009
38
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. 53 62
19368708 2009
39
Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4. 53 62
19411806 2009
40
[Diagnosis and follow-up of head and neck paragangliomas. Contributions of nuclear medicine]. 53 62
19245777 2009
41
SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. 53 62
19184535 2009
42
Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis. 53 62
19261994 2009
43
Predominant expression of mutated allele of the succunate dehydrogenase D (SDHD) gene in the SDHD-related paragangliomas. 53 62
19550080 2009
44
Pigmented 'black' cardiac paraganglioma in a patient with a novel germ-line SDHD mutation. 53 62
19027316 2009
45
Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity. 53 62
19145771 2009
46
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. 53 62
18826997 2008
47
SDHC mutation in an elderly patient without familial antecedents. 53 62
18681855 2008
48
Clinical and molecular progress in hereditary paraganglioma. 53 62
18978332 2008
49
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. 53 62
18419787 2008
50
Paraganglioma in pituitary fossa. 53 62
18410271 2008
Sources

Variations for Paraganglioma

About this section

ClinVar genetic disease variations for Paraganglioma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHB NM_003000.3(SDHB):c.206G>T (p.Gly69Val) SNV Pathogenic
 1687624 GRCh37: 1:17359635-17359635
GRCh38: 1:17033140-17033140
2 SDHD NM_003002.4(SDHD):c.242C>G (p.Pro81Arg) SNV Pathogenic
 1687625 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
3 SDHA NM_004168.4(SDHA):c.1432_1432+1del DEL Pathogenic
 239647 rs878854627 GRCh37: 5:236714-236715
GRCh38: 5:236599-236600
4 SDHB NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) SNV Likely Pathogenic
 428929 rs1131691058 GRCh37: 1:17349124-17349124
GRCh38: 1:17022629-17022629
5 DDX46 NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser) SNV Uncertain Significance
 1684500 GRCh37: 5:134153391-134153391
GRCh38: 5:134817701-134817701
6 SDHB NM_003000.3(SDHB):c.32G>A (p.Arg11His) SNV Likely Benign
Benign
 36768 rs111430410 GRCh37: 1:17380483-17380483
GRCh38: 1:17053988-17053988

Cosmic variations for Paraganglioma:

8 (show top 50) (show all 122)
# 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 5
2 COSM90654925 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 5
3 COSM88294143 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 5
4 COSM90652830 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.373G>T p.V125F 3:10149819-10149819 5
5 COSM88293303 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 5
6 COSM88288959 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 5
7 COSM88296074 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 5
8 COSM88292246 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 5
9 COSM90652721 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.368A>G p.Q123R 3:10149814-10149814 5
10 COSM88292324 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 5
11 COSM90657160 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 5
12 COSM88305342 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 5
13 COSM90653943 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>G p.K118E 3:10149798-10149798 5
14 COSM90668341 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.369G>T p.Q123H 3:10149815-10149815 5
15 COSM88292236 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 5
16 COSM90652730 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 5
17 COSM90648957 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.359G>A p.R120Q 3:10149805-10149805 5
18 COSM90664073 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.341-3225T>G p.? 3:10146562-10146562 5
19 COSM90811579 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 5
20 COSM92347003 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 5
21 COSM142343426 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1289+3268T>C p.? 10:43114500-43114500 5
22 COSM142343204 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.*102T>C p.? 10:43121968-43121968 5
23 COSM92347226 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 5
24 COSM90811811 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 5
25 COSM93530486 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 5
26 COSM93656552 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 5
27 COSM93692982 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 5
28 COSM93650970 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 5
29 COSM120509060 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 5
30 COSM93535461 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 5
31 COSM109968573 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 5
32 COSM109960979 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 5
33 COSM93512112 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 5
34 COSM93508888 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 5
35 COSM93509879 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 5
36 COSM120509488 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 5
37 COSM93507010 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7237C>T p.Q2413* 17:31349230-31349230 5
38 COSM93662933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 5
39 COSM93654948 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 5
40 COSM93504734 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 5
41 COSM93507162 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 5
42 COSM120515658 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 5
43 COSM93650764 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 5
44 COSM93517207 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7519C>T p.Q2507* 17:31352381-31352381 5
45 COSM109960306 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1724A>T p.Y575F 17:31221932-31221932 5
46 COSM93652933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 5
47 COSM93668028 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 5
48 COSM93647950 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 5
49 COSM93688082 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 5
50 COSM109961525 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 5

Copy number variations for Paraganglioma from CNVD:

6 (show all 12)
# CNVD ID Chromosome 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
Sources

Expression for Paraganglioma

About this section
Search GEO for disease gene expression data for Paraganglioma.
Sources

Pathways for Paraganglioma

About this section

Pathways related to Paraganglioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 66
Show member pathways
 12.61 SDHD SDHC SDHB SDHA FH
2
Neuroscience 3
12.33 CALCA ENO2 NF1 RET SYP TH
3
Glucose / Energy Metabolism 3
12.27 SDHAF2 SDHA FH ENO2
4
glycolysis (BioCyc) 61
Show member pathways
 11.96 SDHD SDHC SDHB SDHA FH ENO2
5
Pyruvate metabolism 66
Show member pathways
 11.69 SDHD SDHC SDHB SDHA FH
6
Amino acid metabolism 74
Show member pathways
 11.65 TH SDHA PNMT FH
7
VEGF Pathway (Tocris) 70
Show member pathways
 11.51 RET KIT HRAS
8
TCA cycle III (animals) 61
Show member pathways
 11.3 SDHD SDHC SDHB SDHA FH
9
Regorafenib Pathway, Pharmacodynamics 60
10.31 RET KIT
10
Mitochondrial complex II assembly 74
Show member pathways
 10.1 SDHD SDHC SDHB SDHAF2 SDHA
Sources

GO Terms for Paraganglioma

About this section

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

# Name GO ID Score Top Affiliating Genes
1 terminal bouton GO:0043195 9.63 TH SYP CALCA
2 neuronal dense core vesicle GO:0098992 9.26 SST CHGA CALCA
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.23 SDHD SDHC SDHB SDHA

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 10.1 RET NF1 MEN1 HRAS
2 pigmentation GO:0043473 9.85 TH NF1 KIT
3 succinate metabolic process GO:0006105 9.78 SDHB SDHA
4 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.76 SDHD SDHC SDHB SDHA
5 mast cell proliferation GO:0070662 9.73 NF1 KIT
6 regulation of long-term neuronal synaptic plasticity GO:0048169 9.73 HRAS NF1 SYP
7 tricarboxylic acid cycle GO:0006099 9.73 SDHD SDHC SDHB SDHAF2 SDHA FH
8 mast cell chemotaxis GO:0002551 9.71 KIT CHGA
9 catecholamine biosynthetic process GO:0042423 9.63 TH PNMT
10 epinephrine biosynthetic process GO:0042418 9.62 TH PNMT
11 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.32 SDHD SDHC SDHB SDHAF2 SDHA

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 9.56 SDHD SDHB
2 electron transfer activity GO:0009055 9.56 SDHD SDHC SDHB SDHA
3 succinate dehydrogenase activity GO:0000104 9.46 SDHC SDHA
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.1 SDHD SDHB SDHA
Sources

Sources for Paraganglioma

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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