MCID: PRG013
MIFTS: 57

Paraganglioma

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

Aliases & Classifications for Paraganglioma

MalaCards integrated aliases for Paraganglioma:

Name: Paraganglioma 12 73 29 54 6 44 15 39 17 70
Chemodectoma 12 73
Extra-Adrenal Paraganglioma 70
Carotid Body Paraganglioma 70
Glomus Body Tumor 12
Paragangliomas 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050773
MeSH 44 D010235
NCIt 50 C3308
SNOMED-CT 67 302833002
UMLS 70 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 nonsyndromic paraganglioma and paragangliomas 1, and has symptoms including aphonia An important gene associated with Paraganglioma is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A), and among its related pathways/superpathways are Pathways in cancer and Neuroscience. The drugs Phenoxybenzamine and Doxazosin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and lymph node, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 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 831)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic paraganglioma 33.0 SDHB RET CHGA
2 paragangliomas 1 33.0 SDHD SDHC SDHB SDHA
3 hereditary paraganglioma-pheochromocytoma syndromes 32.3 VHL TMEM127 SDHD SDHC SDHB SDHAF2
4 carney triad 32.2 SDHD SDHC SDHB SDHA KIT
5 sporadic pheochromocytoma/secreting paraganglioma 31.9 VHL SDHD SDHB RET
6 pheochromocytoma-paraganglioma 31.8 VHL TMEM127 SDHD SDHC SDHB SDHA
7 paraganglioma and gastric stromal sarcoma 31.7 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
8 carotid body cancer 31.4 TG SYP SST ENO2 CHGA CALCA
9 rare tumor 31.3 SST RET KIT
10 glomus tumor 31.3 SYP SDHD SDHB ENO2
11 thyroid carcinoma 31.2 TG RET CALCA
12 neurofibromatosis 31.1 VHL SDHD SDHB RET NF1
13 gastrointestinal stromal tumor 30.8 SYP SST SDHD SDHC SDHB SDHA
14 cowden syndrome 30.8 SDHD SDHC SDHB RET NF1 MEN1
15 mitochondrial complex ii deficiency, nuclear type 1 30.8 SDHD SDHC SDHB SDHAF2 SDHA
16 horner's syndrome 30.7 SDHD NF1 ENO2
17 neurilemmoma 30.7 NF1 KIT ENO2
18 neural crest tumor 30.6 SDHD SDHC SDHB SDHAF2 SDHA
19 ganglioneuroma 30.5 SYP SST RET PNMT ENO2 CHGA
20 goiter 30.5 TG SST RET CALCA
21 alveolar soft part sarcoma 30.5 SYP RET ENO2
22 cranial nerve palsy 30.5 SYP SDHD SDHB
23 neuroma 30.5 RET NF1 ENO2 CALCA
24 adenoma 30.5 VHL TG SYP SST RET MEN1
25 kidney cancer 30.5 VHL SDHC SDHB FH
26 neuroendocrine tumor 30.5 SYP SST SDHD SDHB SDHA RET
27 leiomyosarcoma 30.5 NF1 KIT FH ENO2
28 meningioma, familial 30.4 SYP SST RET NF1 MEN1
29 chondroma 30.4 SDHD SDHC SDHB SDHAF2 SDHA NF1
30 malignant pheochromocytoma 30.4 VHL SYP SST SDHB PNMT MAX
31 pheochromocytoma 30.3 VHL TMEM127 SYP SST SDHD SDHC
32 parathyroid adenoma 30.3 RET MEN1 CHGA CALCA
33 hyperparathyroidism 30.3 RET MEN1 CHGA CALCA
34 hemangioblastoma 30.3 VHL SYP ENO2
35 thyroid carcinoma, familial medullary 30.3 VHL TG SST RET MEN1 CHGA
36 cauda equina neoplasm 30.2 SYP ENO2 CHGA
37 fumarate hydratase deficiency 30.2 VHL FH
38 thyroid gland medullary carcinoma 30.2 TG SYP SST RET MEN1 CHGA
39 adrenal cortical adenoma 30.2 SYP MEN1 ENO2 CHGA
40 carcinoid syndrome 30.2 SYP SST SDHD MEN1 ENO2 CHGA
41 horseshoe kidney 30.2 SYP ENO2 CHGA
42 thyroiditis 30.2 TG RET CALCA
43 duodenal somatostatinoma 30.2 SST NF1 MEN1
44 papillary carcinoma 30.2 TG SYP RET CHGA CALCA
45 foster-kennedy syndrome 30.2 SDHD SDHC SDHAF2 SDHA
46 plethora of newborn 30.2 SDHD SDHB
47 extra-adrenal pheochromocytoma 30.2 TMEM127 SYP SDHD SDHC SDHB SDHAF2
48 primary hyperparathyroidism 30.2 RET MEN1 CHGA CALCA
49 neurofibroma 30.2 SYP NF1 KIT
50 von hippel-lindau syndrome 30.1 VHL TMEM127 SDHD SDHC SDHB SDHAF2

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 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.21 MEN1
2 Decreased viability GR00221-A-1 10.21 KIT NF1 RET SDHD VHL
3 Decreased viability GR00221-A-2 10.21 MAX NF1 RET SDHD VHL
4 Decreased viability GR00221-A-3 10.21 MAX
5 Decreased viability GR00221-A-4 10.21 NF1 RET SDHD
6 Decreased viability GR00240-S-1 10.21 SDHB SST TG
7 Decreased viability GR00249-S 10.21 NF1 PNMT SDHD VHL
8 Decreased viability GR00301-A 10.21 KIT RET VHL
9 Decreased viability GR00381-A-1 10.21 CALCA SDHD
10 Decreased viability GR00386-A-1 10.21 MAX NF1 SYP TMEM127
11 Decreased viability GR00402-S-2 10.21 ENO2 RET TMEM127
12 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 NF1

MGI Mouse Phenotypes related to Paraganglioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 CHGA ENO2 KIT MAX MEN1 NF1
2 homeostasis/metabolism MP:0005376 10.2 CHGA FH KIT MEN1 NF1 PNMT
3 cellular MP:0005384 10.17 ENO2 FH KIT MAX MEN1 NF1
4 mortality/aging MP:0010768 10.1 CHGA FH KIT MAX MEN1 NF1
5 endocrine/exocrine gland MP:0005379 10.06 CHGA KIT MEN1 NF1 RET SDHB
6 neoplasm MP:0002006 9.76 KIT MEN1 NF1 RET SDHB SDHC
7 nervous system MP:0003631 9.73 CHGA ENO2 KIT MEN1 NF1 PNMT
8 normal MP:0002873 9.28 KIT NF1 PNMT RET SDHB SDHD

Drugs & Therapeutics for Paraganglioma

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

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenoxybenzamine Approved Phase 3 59-96-1 4768
2
Doxazosin Approved Phase 3 74191-85-8 3157
3 Adrenergic alpha-1 Receptor Antagonists Phase 3
4 Vasodilator Agents Phase 3
5 Adrenergic alpha-Antagonists Phase 3
6 Adrenergic Antagonists Phase 3
7 Adrenergic Agents Phase 3
8 Antihypertensive Agents Phase 3
9
Epinephrine Approved, Vet_approved Phase 1, Phase 2 51-43-4 5816
10
Racepinephrine Approved Phase 1, Phase 2 329-65-7 838
11
nivolumab Approved Phase 1, Phase 2 946414-94-4
12
Olaparib Approved Phase 2 763113-22-0 23725625
13
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
14
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
15
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
16
Ipilimumab Approved Phase 2 477202-00-9
17
Pembrolizumab Approved Phase 2 1374853-91-4
18
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
19
Lenvatinib Approved, Investigational Phase 2 417716-92-8
20
lanreotide Approved Phase 2 108736-35-2
21
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
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 6400441 383414
24
Lysine Approved, Nutraceutical Phase 2 56-87-1 5962
25
Guadecitabine Investigational Phase 2 929901-49-5
26 3-Iodobenzylguanidine Phase 2
27 Epinephryl borate Phase 1, Phase 2
28 Vaccines Phase 1, Phase 2
29 Alkylating Agents Phase 2
30 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
31 Fluorodeoxyglucose F18 Phase 2
32 Immunoglobulins Phase 2
33 Antibodies Phase 2
34 Antibodies, Monoclonal Phase 2
35 Antineoplastic Agents, Immunological Phase 2
36 Angiogenesis Inhibitors Phase 2
37 Angiopeptin Phase 2
38 Pharmaceutical Solutions Phase 2
39 Immunologic Factors Phase 2
40 Immunosuppressive Agents Phase 2
41
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
42 Protein Kinase Inhibitors Phase 2
43 Radiopharmaceuticals Phase 1, Phase 2
44 Edotreotide Phase 1, Phase 2
45 Gastrointestinal Agents Phase 1, Phase 2
46 Antineoplastic Agents, Hormonal Phase 1, Phase 2
47
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
48
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
49
Sirolimus Approved, Investigational Phase 1 53123-88-9 6436030 5284616
50
Vinorelbine Approved, Investigational Phase 1 71486-22-1 60780 44424639

Interventional clinical trials:

(show top 50) (show all 62)
# 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 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
5 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)
6 A Phase 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Completed NCT01635907 Phase 2 Dovitinib
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 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)
9 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
10 A Phase 2 Study of Linsitinib (OSI-906) in Pediatric and Adult Wild Type Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
11 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
12 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
13 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
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 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 Recruiting NCT03923257 Phase 1, Phase 2 177Lu-DOTA-tyr3-OCTREOTATE
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 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
18 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
19 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 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 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
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 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
25 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
26 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) Not yet recruiting NCT04711135 Phase 2 Lutetium [177Lu] oxodotreotide/dotatate
27 A Phase II Study to Evaluate the Safety and Efficacy of RAD001 Plus Erlotinib in Patients With Well- to Moderately-Differentiated Neuroendocrine Tumors Terminated NCT00843531 Phase 2 RAD001;erlotinib
28 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
29 Evaluation of Gallium-68 DOTA-TOC Imaging of Somatostatin Receptor Positive Malignancies Terminated NCT02177773 Phase 1, Phase 2 Gallium Ga 68-Edotreotide
30 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
31 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
32 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
33 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
34 Phase I Clinical Trial of Temsirolimus and Vinorelbine in Advanced Solid Tumors. Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
35 Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma Recruiting NCT00004847 Phase 1 ([18F]-DOPA);[68Ga]-DOTATATE;([18F]-6F-DA)
36 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
37 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
38 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
39 Compassionate Use of 131I-MIBG for Patients With Malignant Pheochromocytoma Approved for marketing NCT01377532 131 I-Metaiodobenzylguanidine (131 I-MIBG)
40 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
41 The COMETE Network, Towards an Easy-to-use Adrenal Cancer/Tumor Identity Card Completed NCT02672020
42 Evaluation Des méthodes de dépistage du Paragangliome héréditaire Chez Les Sujets prédisposés génétiquement Completed NCT00188019
43 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407
44 Phase IV Trial Evaluating the Use of Stereotactic Body Radiotherapy for the Treatment of Spine Metastases and Primary Spine Tumors Completed NCT01347307
45 Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions Recruiting NCT03160274
46 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
47 The MUPPET-study: Multicenter Pheochromocytoma and Paraganglioma Evaluation for Follow-up Screening, Genetics Sub-Typing, Therapy and Outcome Recruiting NCT03344016
48 Development of a Tele-monitoring Program for Patients Undergoing Surgery for Pheochromocytoma and / or Paraganglioma Recruiting NCT04573816
49 Evaluation of the Safety and Sensitivity of 68Ga-DOTATOC PET/CT for Imaging NET Patients Recruiting NCT03583528
50 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

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, Pituitary, Lymph Node, Adrenal Gland, Spinal Cord, Pancreas, Kidney

Publications for Paraganglioma

Articles related to Paraganglioma:

(show top 50) (show all 6025)
# Title Authors PMID Year
1
Familial paraganglioma syndromes. 61 54
20498024 2010
2
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 61 54
20503330 2010
3
Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. 54 61
20236688 2010
4
Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. 54 61
20305538 2010
5
Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma. 54 61
20398431 2010
6
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. 54 61
20071235 2010
7
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. 54 61
19915015 2010
8
Primary paraganglioma of the parathyroid: a case report and clinicopathologic review. 61 54
20237987 2010
9
Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria. 54 61
20111059 2010
10
A large deletion in the succinate dehydrogenase B gene (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant metastasis. 61 54
20379037 2010
11
Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. 61 54
20205103 2010
12
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. 54 61
19906784 2010
13
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 54 61
19584903 2010
14
Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma. 61 54
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. 54 61
19808854 2009
17
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 54 61
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. 61 54
19454582 2009
21
R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma. 61 54
19415531 2009
22
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. 54 61
19522823 2009
23
Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening? 54 61
19189136 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
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma. 61 54
19190077 2009
26
Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. 61 54
19223516 2009
27
Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis. 54 61
19432956 2009
28
Mutations in the C. elegans succinate dehydrogenase iron-sulfur subunit promote superoxide generation and premature aging. 61 54
19233206 2009
29
[Extra-adrenal pheochromocytoma associated to SDHD gene mutation]. 61 54
19318336 2009
30
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. 54 61
19368708 2009
31
Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity. 54 61
19145771 2009
32
Predominant expression of mutated allele of the succunate dehydrogenase D (SDHD) gene in the SDHD-related paragangliomas. 54 61
19550080 2009
33
Pigmented 'black' cardiac paraganglioma in a patient with a novel germ-line SDHD mutation. 61 54
19027316 2009
34
Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis. 54 61
19261994 2009
35
SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. 54 61
19184535 2009
36
SDHC mutation in an elderly patient without familial antecedents. 54 61
18681855 2008
37
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. 61 54
18826997 2008
38
Clinical and molecular progress in hereditary paraganglioma. 54 61
18978332 2008
39
Paraganglioma in pituitary fossa. 54 61
18410271 2008
40
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. 54 61
18419787 2008
41
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 61 54
18551016 2008
42
Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report. 54 61
18213727 2008
43
Screening for familial paragangliomas. 61 54
17936061 2008
44
Sporadic paraganglioma. 54 61
18224469 2008
45
Cervical paragangliomas: is SDH genetic analysis systematically required? 61 54
17987308 2008
46
R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. 61 54
18362451 2008
47
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. 54 61
18211978 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. 54 61
18310297 2008

Variations for Paraganglioma

ClinVar genetic disease variations for Paraganglioma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHA NM_004168.4(SDHA):c.1432_1432+1del Deletion Pathogenic 239647 rs878854627 GRCh37: 5:236714-236715
GRCh38: 5:236599-236600
2 SDHB NM_003000.3(SDHB):c.32G>A (p.Arg11His) SNV Likely benign 36768 rs111430410 GRCh37: 1:17380483-17380483
GRCh38: 1:17053988-17053988

Cosmic variations for Paraganglioma:

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

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 9.58 SDHC SDHB SDHA
4 succinate metabolic process GO:0006105 9.32 SDHB SDHA
5 mast cell chemotaxis GO:0002551 9.26 KIT CHGA
6 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHD SDHC SDHAF2 SDHA
7 mast cell cytokine production GO:0032762 9.16 KIT CHGA
8 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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