MCID: PRG013
MIFTS: 52

Paraganglioma

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

Aliases & Classifications for Paraganglioma

MalaCards integrated aliases for Paraganglioma:

Name: Paraganglioma 12 74 29 54 43 15 39 17 71
Chemodectoma 12 74
Extra-Adrenal Paraganglioma 71
Carotid Body Paraganglioma 71
Glomus Body Tumor 12
Paragangliomas 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050773
MeSH 43 D010235
NCIt 49 C3308
SNOMED-CT 67 302833002 803009
UMLS 71 C0007279 C0030421 C0030422

Summaries for Paraganglioma

Disease Ontology : 12 A pheochromocytoma that arises in extraadrenal sympathetic ganglia.

MalaCards based summary : Paraganglioma, also known as chemodectoma, is related to paragangliomas 1 and sporadic pheochromocytoma/secreting paraganglioma, 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 Pathways in cancer and Neuroscience. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and lung, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 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 850)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 34.8 SDHD SDHC SDHB RET CHGA
2 sporadic pheochromocytoma/secreting paraganglioma 33.9 VHL SDHD SDHB RET
3 hereditary paraganglioma-pheochromocytoma syndromes 33.9 VHL TMEM127 SDHD SDHC SDHB SDHAF2
4 pheochromocytoma-paraganglioma 33.9 VHL TMEM127 SDHD SDHC SDHB SDHA
5 carney triad 33.5 SDHD SDHC SDHB SDHA KIT
6 paraganglioma and gastric stromal sarcoma 33.0 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
7 carotid body cancer 31.8 TG SYP SST ENO2 CHGA CALCA
8 neurofibromatosis 31.5 VHL SDHD SDHB RET NF1
9 thyroid carcinoma 31.5 TG RET CALCA
10 rare tumor 31.3 SST RET KIT
11 gangliocytoma 31.3 SYP GFAP ENO2
12 glomus tumor 31.2 SYP SDHD SDHB ENO2
13 multiple endocrine neoplasia 31.2 VHL SDHC SDHB RET MEN1 CALCA
14 gastrointestinal stromal tumor 31.1 SYP SST SDHD SDHC SDHB SDHA
15 neural crest tumor 31.0 SDHD SDHC SDHB SDHAF2 SDHA
16 pheochromocytoma 30.9 VHL TMEM127 SYP SST SDHD SDHC
17 malignant pheochromocytoma 30.9 SYP SST SDHB MAX ENO2 CHGA
18 cellular ependymoma 30.9 SYP MEN1
19 exophthalmos 30.8 TG SYP NF1 ENO2
20 alveolar soft part sarcoma 30.8 SYP RET ENO2
21 benign ependymoma 30.8 SYP NF1 MEN1 GFAP ENO2
22 ganglioneuroma 30.7 SYP SST RET GFAP ENO2 CHGA
23 goiter 30.7 TG SST RET CALCA
24 adenoma 30.7 VHL TG SYP SST RET MEN1
25 von hippel-lindau syndrome 30.7 VHL TMEM127 SDHD SDHC SDHB RET
26 hyperparathyroidism 30.6 RET MEN1 CHGA CALCA
27 multinodular goiter 30.6 TG RET CALCA
28 thyroid gland medullary carcinoma 30.5 TG SST RET MEN1 CHGA CALCA
29 parathyroid adenoma 30.5 RET MEN1 CHGA CALCA
30 granular cell tumor 30.5 SYP GFAP ENO2
31 neurilemmoma 30.5 NF1 KIT GFAP ENO2
32 cauda equina neoplasm 30.5 SYP ENO2 CHGA
33 adrenal cortical carcinoma 30.5 SYP MEN1 CHGA
34 duodenal somatostatinoma 30.5 SST NF1 MEN1
35 horseshoe kidney 30.5 SYP ENO2 CHGA
36 hemangioblastoma 30.5 VHL SYP GFAP ENO2
37 foster-kennedy syndrome 30.5 SDHD SDHAF2 SDHA
38 adrenal cortical adenoma 30.5 SYP SDHD MEN1 ENO2 CHGA
39 primary hyperparathyroidism 30.5 RET MEN1 CHGA CALCA
40 hydrocephalus 30.4 SYP SST GFAP ENO2
41 carcinoid tumors, intestinal 30.4 SYP SST MEN1 ENO2 CHGA
42 extra-adrenal pheochromocytoma 30.4 TMEM127 SYP SDHD SDHC SDHB SDHAF2
43 thyroiditis 30.4 TG RET CALCA
44 endocrine gland cancer 30.4 SYP SST RET CHGA
45 multicentric papillary thyroid carcinoma 30.4 TG RET
46 neurofibroma 30.4 SYP NF1 KIT
47 papillary carcinoma 30.4 TG SYP RET CHGA CALCA
48 leiomyosarcoma 30.4 NF1 KIT FH ENO2
49 thyroid carcinoma, familial medullary 30.4 VHL TG SST RET MEN1 CHGA
50 nodular goiter 30.4 TG RET CALCA

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 9.96 NF1 RET SDHD VHL KIT
2 Decreased viability GR00221-A-2 9.96 MAX NF1 RET SDHD VHL
3 Decreased viability GR00221-A-3 9.96 MAX
4 Decreased viability GR00221-A-4 9.96 NF1 RET SDHD
5 Decreased viability GR00249-S 9.96 NF1 SDHD VHL
6 Decreased viability GR00301-A 9.96 RET VHL KIT
7 Decreased viability GR00381-A-1 9.96 SDHD
8 Decreased viability GR00386-A-1 9.96 MAX NF1
9 Decreased viability GR00402-S-2 9.96 RET
10 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 NF1

MGI Mouse Phenotypes related to Paraganglioma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 CHGA ENO2 GFAP KIT MAX MEN1
2 cellular MP:0005384 10.26 ENO2 FH GFAP KIT MAX MEN1
3 homeostasis/metabolism MP:0005376 10.24 CHGA FH GFAP KIT MEN1 NF1
4 mortality/aging MP:0010768 10.2 CHGA FH GFAP KIT MAX MEN1
5 endocrine/exocrine gland MP:0005379 10.09 CHGA KIT MEN1 NF1 RET SDHB
6 digestive/alimentary MP:0005381 10.06 GFAP KIT MEN1 NF1 RET SST
7 muscle MP:0005369 9.86 CHGA GFAP KIT MEN1 NF1 RET
8 neoplasm MP:0002006 9.76 KIT MEN1 NF1 RET SDHB SDHC
9 nervous system MP:0003631 9.7 CHGA ENO2 GFAP KIT MEN1 NF1
10 normal MP:0002873 9.28 GFAP KIT NF1 RET SDHB SDHD

Drugs & Therapeutics for Paraganglioma

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

(show top 50) (show all 73)
# 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 Adrenergic alpha-Antagonists Phase 3
4 Antihypertensive Agents Phase 3
5 Adrenergic Antagonists Phase 3
6 Vasodilator Agents Phase 3
7 Adrenergic alpha-1 Receptor Antagonists Phase 3
8
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
9
Pembrolizumab Approved Phase 2 1374853-91-4
10
Ipilimumab Approved Phase 2 477202-00-9
11
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
12
Lenvatinib Approved, Investigational Phase 2 417716-92-8
13
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
14
Epinephrine Approved, Vet_approved Phase 1, Phase 2 51-43-4 5816
15
Racepinephrine Approved Phase 1, Phase 2 329-65-7 838
16
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
17
nivolumab Approved Phase 1, Phase 2 946414-94-4
18
lanreotide Approved Phase 2 108736-35-2
19
Olaparib Approved Phase 2 763113-22-0 23725625
20
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
21
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
22
Somatostatin Approved, Investigational Phase 1, Phase 2 38916-34-6, 51110-01-1 53481605
23
Octreotide Approved, Investigational Phase 1, Phase 2 83150-76-9 383414 6400441
24 Guadecitabine Investigational Phase 2 929901-49-5
25 Immunosuppressive Agents Phase 2
26 Immunologic Factors Phase 2
27
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
28 Pharmaceutical Solutions Phase 2
29 Endothelial Growth Factors Phase 2
30 Mitogens Phase 2
31 Immunoglobulins Phase 2
32 Antibodies Phase 2
33 Antibodies, Monoclonal Phase 2
34 Antineoplastic Agents, Immunological Phase 2
35 Protein Kinase Inhibitors Phase 2
36 Angiogenesis Inhibitors Phase 2
37 Epinephryl borate Phase 1, Phase 2
38 Fluorodeoxyglucose F18 Phase 1, Phase 2
39 Vaccines Phase 1, Phase 2
40 Angiopeptin Phase 2
41 Alkylating Agents Phase 2
42 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
43 Radiopharmaceuticals Phase 1, Phase 2
44 Antineoplastic Agents, Hormonal Phase 1, Phase 2
45 Gastrointestinal Agents Phase 1, Phase 2
46 Edotreotide Phase 1, Phase 2
47
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
48
Vinorelbine Approved, Investigational Phase 1 71486-22-1 60780 44424639
49
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
50
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189

Interventional clinical trials:

(show top 50) (show all 71)
# 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 High Dose Indium-111 Pentetreotide Therapy in Somatostatin Receptor Expressing Neuroendocrine Neoplasms. Completed NCT00442533 Phase 2, Phase 3 Indium-111 pentetreotide
4 Randomized Controlled Trial of Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
5 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
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 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 Completed NCT03165721 Phase 2 SGI-110 (guadecitabine)
8 A Phase 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Completed NCT01635907 Phase 2 Dovitinib
9 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
10 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
11 A Phase II Study to Evaluate the Safety and Efficacy of RAD001 Plus Erlotinib in Patients With Well- to Moderately-Differentiated Neuroendocrine Tumors Completed NCT00843531 Phase 2 RAD001;erlotinib
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 Clinical Study of the Use of Yttrium-90 (90Y) and/or Lutecium-177 (177Lu) DOTATATE (DOTA-0-Tyr3-Octreotate) in the Treatment of Disseminated and / or Symptomatic Tumors With Somatostatin Receptor Overexpression Recruiting NCT04029428 Phase 2 90Y-DOTATATE;(177Lu-DOTAOTyr3)Octreotate;90Y DOTATATE and 177Lu DOTATATE (mix each of 50%)
15 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
16 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
17 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
18 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
19 Open Access Protocol of Targeted Radiotherapy With I-metaiodobenzylguanidine (I-MIBG) in Patients With Resistant Neuroblastoma or Malignant Chromaffin Cell Tumors Recruiting NCT00107289 Phase 2
20 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
21 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
22 A Investigator Initiated Phase II Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
23 Phase II Trial of Lenvatinib in Metastatic or Advanced Pheochromocytoma and Paraganglioma Active, not recruiting NCT03008369 Phase 2 Lenvatinib
24 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)
25 A Phase II Study Evaluating the Efficacy and Safety of Ultratrace Iobenguane I 131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
26 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 Not yet recruiting NCT04106843 Phase 2 Lutetium Lu 177 Dotatate
27 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 Not yet recruiting NCT04187404 Phase 1, Phase 2
28 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
29 A Phase II, Non-Randomized, Open-Label, Single-center, Physician Sponsored, Study to Determine the Safety and Effectiveness of 177LuDOTATOC in Adult Subjects With STTR(+) Pulmonary, Pheochromocytoma, Paraganglioma, Unknown Primary, Thymus Neuroendocrine Tumors (PUTNET) Not yet recruiting NCT04276597 Phase 2 177Lu-DOTATOC
30 Phase I/II Trial of Peptide Receptor Radiotherapy (PRRT) With 177Lu-DOTA-tyr3 OCTREOTATE (177Lu-DOTATATE) in Children With Neuroendocrine Tumor, Neuroblastoma, or Pheochromocytoma/Paraganglioma Not yet recruiting NCT03923257 Phase 1, Phase 2 177Lu-DOTA-tyr3-OCTREOTATE
31 A Prospective, Multi-Institutional Phase II Trial Evaluating Temozolomide vs. Temozolomide and Olaparib for Advanced Pheochromocytoma and Paraganglioma Not yet recruiting NCT04394858 Phase 2 Olaparib;Temozolomide
32 Exploratory Basket Trial of Cabozantinib Plus Atezolizumab in Advanced and Progressive Neoplasms of the Endocrine System. CABATEN Study Not yet recruiting NCT04400474 Phase 2 Cabozantinib 40 mg
33 Phase I/II Study of Lu-177-DOTATATE (Lutathera) in Combination With Olaparib in Inoperable Gastroenteropancreatico Neuroendocrine Tumors (GEP-NET) Not yet recruiting NCT04086485 Phase 1, Phase 2 Lu-177-DOTATATE;Olaparib
34 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
35 Evaluation of Gallium-68 DOTA-TOC Imaging of Somatostatin Receptor Positive Malignancies Terminated NCT02177773 Phase 1, Phase 2 Gallium Ga 68-Edotreotide
36 Dexmedetomidine Compared to Midazolam for Symptom Control in Advanced Cancer Patients: A Pilot Randomized Controlled Trial (RCT) Withdrawn NCT01687751 Phase 2 Dexmedetomidine;Midazolam
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 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
39 Phase I Clinical Trial of Temsirolimus and Vinorelbine in Advanced Solid Tumors. Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
40 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
41 Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma Recruiting NCT00004847 Phase 1 ([18F]-DOPA);[68Ga]-DOTATATE;([18F]-6F-DA)
42 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
43 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
44 Performance of an Omics-signature in the Diagnosis and Prognosis of Endocrine and Primary Hypertension Unknown status NCT02772315
45 Compassionate Use of 131I-MIBG for Patients With Malignant Pheochromocytoma Approved for marketing NCT01377532 131 I-Metaiodobenzylguanidine (131 I-MIBG)
46 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
47 Evaluation Des méthodes de dépistage du Paragangliome héréditaire Chez Les Sujets prédisposés génétiquement Completed NCT00188019
48 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
49 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407
50 Prospective Evaluation of Tumor Angiogenesis in Endocrine Neoplasms Completed NCT00923780

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:

40
Thyroid, Testes, Lung, Bone, Pituitary, Lymph Node, Spinal Cord

Publications for Paraganglioma

Articles related to Paraganglioma:

(show top 50) (show all 5721)
# Title Authors PMID Year
1
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 61 54
20503330 2010
2
Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. 61 54
20236688 2010
3
Familial paraganglioma syndromes. 61 54
20498024 2010
4
Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. 61 54
20305538 2010
5
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. 54 61
20071235 2010
6
Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma. 54 61
20398431 2010
7
Primary paraganglioma of the parathyroid: a case report and clinicopathologic review. 54 61
20237987 2010
8
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. 54 61
19915015 2010
9
Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria. 61 54
20111059 2010
10
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. 61 54
19906784 2010
11
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 61 54
19584903 2010
12
Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. 61 54
20205103 2010
13
A large deletion in the succinate dehydrogenase B gene (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant metastasis. 54 61
20379037 2010
14
Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma. 54 61
19956719 2009
15
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 61 54
19215943 2009
16
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. 61 54
19808854 2009
17
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 61 54
19825962 2009
18
Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients. 54 61
19546167 2009
19
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. 54 61
19576851 2009
20
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 54 61
19454582 2009
21
R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma. 54 61
19415531 2009
22
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. 61 54
19522823 2009
23
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma. 61 54
19190077 2009
24
Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation. 54 61
19694205 2009
25
Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening? 61 54
19189136 2009
26
Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. 54 61
19223516 2009
27
Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis. 61 54
19432956 2009
28
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. 54 61
19368708 2009
29
[Extra-adrenal pheochromocytoma associated to SDHD gene mutation]. 54 61
19318336 2009
30
Mutations in the C. elegans succinate dehydrogenase iron-sulfur subunit promote superoxide generation and premature aging. 54 61
19233206 2009
31
Pigmented 'black' cardiac paraganglioma in a patient with a novel germ-line SDHD mutation. 61 54
19027316 2009
32
Predominant expression of mutated allele of the succunate dehydrogenase D (SDHD) gene in the SDHD-related paragangliomas. 61 54
19550080 2009
33
Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis. 54 61
19261994 2009
34
Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity. 54 61
19145771 2009
35
SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. 61 54
19184535 2009
36
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. 61 54
18826997 2008
37
SDHC mutation in an elderly patient without familial antecedents. 54 61
18681855 2008
38
Clinical and molecular progress in hereditary paraganglioma. 61 54
18978332 2008
39
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. 54 61
18419787 2008
40
Paraganglioma in pituitary fossa. 54 61
18410271 2008
41
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 54 61
18551016 2008
42
Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report. 61 54
18213727 2008
43
Screening for familial paragangliomas. 54 61
17936061 2008
44
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. 54 61
18211978 2008
45
R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. 54 61
18362451 2008
46
Sporadic paraganglioma. 61 54
18224469 2008
47
Cervical paragangliomas: is SDH genetic analysis systematically required? 54 61
17987308 2008
48
Molecular characterisation of a common SDHB deletion in paraganglioma patients. 61 54
18057081 2008
49
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. 54 61
17973943 2008
50
Role of positron emission tomography and bone scintigraphy in the evaluation of bone involvement in metastatic pheochromocytoma and paraganglioma: specific implications for succinate dehydrogenase enzyme subunit B gene mutations. 61 54
18310297 2008

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 COSM101967342 autonomic ganglia,abdomen,paraganglioma,benign c.181C>A p.Q61K 11:533875-533875 0

Copy number variations for Paraganglioma from CNVD:

7 (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

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 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

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 9.77 VHL TMEM127 SST NF1 MEN1
2 MAPK cascade GO:0000165 9.73 RET NF1 MEN1 KIT
3 electron transport chain GO:0022900 9.63 SDHC SDHB SDHA
4 mast cell degranulation GO:0043303 9.48 KIT CHGA
5 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.4 RET NF1
6 succinate metabolic process GO:0006105 9.32 SDHB SDHA
7 mast cell chemotaxis GO:0002551 9.26 KIT CHGA
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHD SDHC SDHAF2 SDHA
9 mast cell cytokine production GO:0032762 9.16 KIT CHGA
10 tricarboxylic acid cycle GO:0006099 9.1 SDHD SDHC SDHB SDHAF2 SDHA FH

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 9.26 SDHD SDHB
2 electron transfer activity GO:0009055 9.26 SDHD SDHC SDHB SDHA
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHA
4 succinate dehydrogenase activity GO:0000104 8.8 SDHD SDHC SDHA

Sources for Paraganglioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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