MCID: PRG013
MIFTS: 58

Paraganglioma

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

Aliases & Classifications for Paraganglioma

MalaCards integrated aliases for Paraganglioma:

Name: Paraganglioma 12 76 29 55 44 15 40 73
Chemodectoma 12 76 29 6
Extra-Adrenal Paraganglioma 73
Carotid Body Paraganglioma 73
Glomus Body Tumor 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050773
MeSH 44 D010235
NCIt 50 C3308
SNOMED-CT 68 72787006 803009

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 paraganglioma and gastric stromal sarcoma and paragangliomas 1, and has symptoms including aphonia An important gene associated with Paraganglioma is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Neuroscience and Carbon metabolism. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and bone, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 A paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites (including the... more...

Related Diseases for Paraganglioma

Diseases in the Paraganglioma family:

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

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

(show top 50) (show all 343)
# Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 34.2 SDHB SDHC SDHD
2 paragangliomas 1 33.8 CHGA RET SDHB SDHC SDHD
3 hereditary paraganglioma-pheochromocytoma syndromes 33.2 MAX RET SDHA SDHAF2 SDHB SDHC
4 carney triad 33.2 SDHA SDHB SDHC SDHD
5 carotid body cancer 32.0 ENO2 SYP
6 pheochromocytoma 30.8 CHGA ENO2 MAX NF1 RET SDHA
7 gastrointestinal stromal tumor 30.8 CHGA ENO2 NF1 SDHA SDHB SDHC
8 chondroma 30.6 SDHB SDHC SDHD
9 extra-adrenal pheochromocytoma 30.3 SDHAF2 SDHB SDHC SDHD
10 malignant pheochromocytoma 30.1 CHGA ENO2 SDHB SST SYP
11 gastric leiomyosarcoma 30.1 ENO2 SDHD
12 ganglioneuroma 30.0 CHGA ENO2 RET SYP
13 somatostatinoma 29.9 CHGA ENO2 SST
14 cystic teratoma 29.9 ENO2 SYP
15 neuroendocrine tumor 29.9 CHGA ENO2 SST SYP
16 thyroid carcinoma, familial medullary 29.8 CHGA ENO2 RET SST
17 glomus tumor 29.7 ENO2 SDHB SDHD SYP
18 olfactory groove meningioma 29.6 CHGA SYP
19 multiple endocrine neoplasia, type iia 29.5 NF1 RET SDHB SDHD
20 mitochondrial complex ii deficiency 29.5 SDHA SDHAF2 SDHB SDHC SDHD
21 multiple endocrine neoplasia 29.5 CHGA NF1 RET SDHB SDHC VHL
22 sporadic pheochromocytoma 29.5 MAX NF1 RET SDHB SDHC SDHD
23 gastrointestinal neuroendocrine tumor 29.4 CHGA SST SYP
24 intestinal pseudo-obstruction 29.4 RET SST SYP
25 cauda equina neoplasm 29.4 CHGA ENO2 SYP
26 olfactory neuroblastoma 29.3 CHGA ENO2 SYP
27 von hippel-lindau syndrome 29.3 CHGA NF1 RET SDHB SDHC SDHD
28 carcinoid syndrome 29.3 CHGA ENO2 SST SYP
29 vipoma 29.3 CHGA SST
30 neurofibromatosis, type iv, of riccardi 29.2 NF1 RET SDHB SDHC SDHD VHL
31 duodenal somatostatinoma 29.2 ENO2 NF1 SST
32 hemangioma 28.9 CHGA ENO2 RET SYP VHL
33 multiple endocrine neoplasia, type i 28.9 CHGA RET SDHB SDHD SST SYP
34 paragangliomas 4 12.6
35 paragangliomas 3 12.5
36 nonsyndromic paraganglioma 12.5
37 paragangliomas 2 12.4
38 paragangliomas 5 12.4
39 abdominal chemodectomas with cutaneous angiolipomas 12.3
40 multiple paragangliomas associated with polycythemia 12.2
41 non-functioning paraganglioma 12.1
42 chemodectoma, intraabdominal, with cutaneous angiolipomas 12.0
43 non-secreting chemodectoma 12.0
44 sporadic pheochromocytoma/secreting paraganglioma 12.0
45 sporadic secreting paraganglioma 12.0
46 glomus vagale tumor 11.9
47 neuroblastoma 11.4
48 glomus tympanicum tumor 11.2
49 acromegaly 11.0
50 adrenal gland pheochromocytoma 10.8

Graphical network of the top 20 diseases related to Paraganglioma:



Diseases related to Paraganglioma

Symptoms & Phenotypes for Paraganglioma

UMLS symptoms related to Paraganglioma:


aphonia

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

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

MGI Mouse Phenotypes related to Paraganglioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.96 CHGA NF1 RET SDHA SDHB SDHC
2 mortality/aging MP:0010768 9.85 CHGA MAX NF1 RET SDHA SDHB
3 neoplasm MP:0002006 9.35 NF1 RET SDHB SDHD VHL
4 normal MP:0002873 9.17 NF1 RET SDHB SDHD SST SYP

Drugs & Therapeutics for Paraganglioma

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

(show top 50) (show all 135)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4,Phase 3 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4,Phase 3 59-96-1 4768
3 Adrenergic Agents Phase 4,Phase 3,Not Applicable
4 Neurotransmitter Agents Phase 4,Phase 3,Not Applicable
5 Vasodilator Agents Phase 4,Phase 3
6 Adrenergic alpha-1 Receptor Antagonists Phase 4,Phase 3
7 Adrenergic alpha-Antagonists Phase 4,Phase 3
8 Antihypertensive Agents Phase 4,Phase 3
9 Adrenergic Antagonists Phase 4,Phase 3
10
Somatostatin Approved, Investigational Phase 2, Phase 3,Phase 1 51110-01-1, 38916-34-6 53481605
11
Lenograstim Approved, Investigational Phase 3 135968-09-1
12
Ifosfamide Approved Phase 3 3778-73-2 3690
13
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
14
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
15
Rifampicin Approved Phase 3 13292-46-1 5458213 5381226
16
Doxil Approved June 1999 Phase 3,Phase 2 31703
17 Radiopharmaceuticals Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
18 3-Iodobenzylguanidine Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
19 Hormones Phase 2, Phase 3,Phase 1
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
21 Hormone Antagonists Phase 2, Phase 3,Phase 1
22
Isophosphamide mustard Phase 3 0
23 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
24 Topoisomerase Inhibitors Phase 3,Phase 2
25 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
26 Antineoplastic Agents, Alkylating Phase 3,Phase 1
27 Alkylating Agents Phase 3,Phase 1
28 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Nucleic Acid Synthesis Inhibitors Phase 3
30 Cytochrome P-450 CYP3A Inducers Phase 3
31 Antitubercular Agents Phase 3
32
Racepinephrine Approved Phase 2,Not Applicable 329-65-7 838
33
Epinephrine Approved, Vet_approved Phase 2,Not Applicable 51-43-4 5816
34
Iodine Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 7553-56-2 807
35
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
36
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
37
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
38
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
39
Octreotide Approved, Investigational Phase 1, Phase 2,Phase 2 83150-76-9 383414 6400441
40
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
41
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
42
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
43
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
44
Carbidopa Approved Phase 2 28860-95-9 34359 38101
45
Tamoxifen Approved Phase 2 10540-29-1 2733526
46
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
47
Lenvatinib Approved, Investigational Phase 2 417716-92-8
48
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
49
Nivolumab Approved Phase 2 946414-94-4
50
Pembrolizumab Approved Phase 2 1374853-91-4

Interventional clinical trials:

(show top 50) (show all 78)
# Name Status NCT ID Phase Drugs
1 Stereotactic Body Radiotherapy for Head and Neck Tumors Completed NCT01344356 Phase 4
2 Phenoxybenzamine Versus Doxazosin in PCC Patients Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
3 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 Phase 4
4 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
5 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3 Indium-111 pentetreotide
6 Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3 123I-mIBG (meta-iodobenzylguanidine)
7 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
8 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
9 Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
10 Post ExpOsure Prophylaxis for LEprosy in the Comoros and Madagascar Not yet recruiting NCT03662022 Phase 3 Rifampicin
11 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
12 Phase 1 Study of Iobenguane (MIBG) I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2 Ultratrace Iobenguane (MIBG) I 131
13 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2 Sunitinib
14 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2 RAD001
15 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
16 GA-69 DOTA-TATE Imaging of Somatostatin R+ Malignancies Completed NCT02177773 Phase 1, Phase 2 Gallium Ga 68-Edotreotide
17 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
18 Leprosy Skin Test Antigens Trial Completed NCT00128193 Phase 2
19 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Completed NCT00843531 Phase 2 RAD001;erlotinib
20 131MIBG to Treat Malignant Pheochromocytoma Completed NCT00028106 Phase 2 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
21 A Broad Multi-histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-small Cell Lung, Head and Neck Hepatocellular and Renal Cell Carcinomas, and Pheochromocytoma and Thyroid Tumors (Multi-H... Completed NCT00923481 Phase 2 Fostamatinib disodium
22 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
23 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
24 Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib
25 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2 Lenvatinib
26 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;Amino Acid solution
27 A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)
28 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
29 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
30 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
31 Pembrolizumab in Treating Patients With Rare Tumors That Cannot Be Removed by Surgery or Are Metastatic Recruiting NCT02721732 Phase 2
32 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Active, not recruiting NCT01967576 Phase 2 Axitinib (AG-013736)
33 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
34 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2 Dovitinib
35 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
36 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
37 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
38 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
39 Cixutumumab, Everolimus, and Octreotide Acetate in Treating Patients With Advanced Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT01204476 Phase 1 Everolimus;Octreotide Acetate
40 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
41 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib
42 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
43 Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer Terminated NCT00002947 Phase 1
44 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
45 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
46 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation Unknown status NCT02186678 Not Applicable
47 Towards an Easy-to-use Adrenal Cancer/Tumor Identity Card Unknown status NCT02672020 Not Applicable
48 Specificity of Elevated Plasma EM66 Levels in Pheochromocytoma Completed NCT01022515
49 Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers Completed NCT00188019 Not Applicable
50 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407 Not Applicable

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
2 Chemodectoma 29

Anatomical Context for Paraganglioma

MalaCards organs/tissues related to Paraganglioma:

41
Thyroid, Testes, Bone, Lung, Lymph Node, Pituitary, Kidney

Publications for Paraganglioma

Articles related to Paraganglioma:

(show top 50) (show all 1918)
# Title Authors Year
1
Pediatric paraganglioma of the posterior mediastinum: A case report and review of literature. ( 29979384 )
2018
2
A rare case of spinal cord compression due to cervical spine metastases from paraganglioma of the jugular foramen-how should it be treated? ( 29423169 )
2018
3
VMAT Stereotactic Body Radiation Therapy in a Multimodal Approach to a Carotid Paraganglioma in a Dog. ( 29372869 )
2018
4
68Ga-PSMA-HBED-CC-Avid Synchronous Urinary Bladder Paraganglioma in a Patient With Metastatic Prostate Carcinoma. ( 29916916 )
2018
5
Paraganglioma of the Urinary Bladder: A Rare Cause of Hypertension and Urinary Tract Infections. ( 29406048 )
2018
6
Successful Resection of a Non-functional Paraganglioma with Celiac Trunk Invasion Followed by Common Hepatic Artery Reimplantation - A Case Report and Literature Review. ( 29936479 )
2018
7
A Long-Standing Primary Vaginal Paraganglioma-Coexisting with Esophageal Carcinoma. ( 29887722 )
2018
8
Oropharyngeal paraganglioma presenting with stridor: an unusual presentation. ( 29973412 )
2018
9
Carotid body paraganglioma: a rare pathology but not to be forgotten. ( 29431492 )
2018
10
Pathogenicity and Penetrance of Germline <i>SDHA</i> Variants in Pheochromocytoma and Paraganglioma (PPGL). ( 29978154 )
2018
11
Results of a systematic literature review of treatment modalities for jugulotympanic paraganglioma, stratified per Fisch class. ( 29222838 )
2018
12
PHD2 inactivation in Type I cells drives HIF-2I+ dependent multi-lineage hyperplasia and the formation of paraganglioma-like carotid bodies. ( 29917232 )
2018
13
Retroperitoneal paraganglioma in a patient with Fontan: The hypoxia connection. ( 29922019 )
2018
14
Functional Ulnar Nerve Paraganglioma: First Documented Occurrence in the Extremity With Hitherto Undescribed Associated Extensive Glomus Cell Hyperplasia and Tumorlet Formation. ( 28697655 )
2018
15
Immediate Clinical Success After Percutaneous Ablation of Extra-adrenal Paraganglioma. ( 29922859 )
2018
16
Case - Bladder paraganglioma in a pediatric patient. ( 29405904 )
2018
17
Molecular imaging and theranostic approaches in pheochromocytoma and paraganglioma. ( 29450723 )
2018
18
Diagnosis of paraganglioma as a pancreatic mass: A case report. ( 29882285 )
2018
19
Application of Three-Dimensional Visualization Technology in Laparoscopic Surgery for Pheochromocytoma/Paraganglioma: A Single-Center Experience. ( 29406808 )
2018
20
Pathology and genetics of phaeochromocytoma and paraganglioma. ( 29239044 )
2018
21
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )
2018
22
A clinical prediction model to estimate the metastatic potential of pheochromocytoma/paraganglioma: ASES score. ( 29929757 )
2018
23
Metabolic implications of hypoxia and pseudohypoxia in pheochromocytoma and paraganglioma. ( 29450727 )
2018
24
Pheochromocytoma and paraganglioma: genotype versus anatomic location as determinants of tumor phenotype. ( 29362886 )
2018
25
Predicting Genotype with Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma. ( 29391129 )
2018
26
A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated with an SDHC Germline Mutation. ( 29878124 )
2018
27
Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma. ( 29779206 )
2018
28
Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma. ( 29427212 )
2018
29
Genomic Landscape of Pheochromocytoma and Paraganglioma. ( 29413423 )
2018
30
Orbital paraganglioma in infancy: Does it behave more aggressively? ( 29857209 )
2018
31
Pheochromocytoma/Paraganglioma: A Poster Child for Cancer Metabolism. ( 29409060 )
2018
32
Germline BRCA1-associated protein 1 mutation presenting as BAP1 inactivated melanocytic nevi in a child of a father with fatal paraganglioma. ( 29974497 )
2018
33
Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. ( 29977594 )
2018
34
Sellar Paraganglioma. ( 29894338 )
2018
35
Peritoneal carcinomatosis from ovarian paraganglioma: Report of a rare case and systematic review of the literature. ( 29978527 )
2018
36
Detection of brown adipose tissue by<sup>18</sup>F-FDG PET/CT in pheochromocytoma/paraganglioma: A systematic review. ( 29443440 )
2018
37
The Intra-Pericardial Paraganglioma Presenting as Ascites and Hemopericardium with Impending Tamponade. ( 29681569 )
2018
38
The challenge of improving the diagnostic yield from metanephrine testing in suspected phaeochromocytoma and paraganglioma. ( 29660998 )
2018
39
The importance of standardisation of measurement and reference intervals for detection of phaeochromocytoma and paraganglioma (PPGL). ( 29460105 )
2018
40
Cardiogenic shock and tako-tsubo cardiomyopathy in a 9-year-old girl with retroperitoneal paraganglioma. ( 29903891 )
2018
41
A Novel SDHB IVS2-2A&amp;gt;C Mutation Is Responsible for Hereditary Pheochromocytoma/Paraganglioma Syndrome. ( 29925701 )
2018
42
Paraganglioma presenting as acute myocardial infarction. ( 30069397 )
2018
43
Retroperitoneal Paraganglioma-Induced Cardiogenic Shock Rescued by Preoperative Arterial Embolization. ( 30073095 )
2018
44
Simultaneous resection of endometrial cancer and high-level paraaortic paraganglioma using retroperitoneoscopic surgery. ( 30094312 )
2018
45
Multifocal pheochromocytoma-paraganglioma in a 29-year-old woman with cyanotic congenital heart disease. ( 30340856 )
2018
46
Recent advances in the management of malignant pheochromocytoma and paraganglioma: focus on tyrosine kinase and hypoxia-inducible factor inhibitors. ( 30109021 )
2018
47
Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma. ( 29099418 )
2018
48
131-I MIBG therapy of malignant pheochromocytoma and paraganglioma tumours - a single-centre study. ( 29645065 )
2018
49
Current status of functional imaging in neuroblastoma, pheochromocytoma, and paraganglioma disease. ( 30182289 )
2018
50
Subcutaneous ureteral bypass for treatment of bilateral ureteral obstruction in a cat with retroperitoneal paraganglioma. ( 30311526 )
2018

Variations for Paraganglioma

ClinVar genetic disease variations for Paraganglioma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632
2 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh38 Chromosome 11, 112086908: 112086908

Cosmic variations for Paraganglioma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM18097 VHL autonomic ganglia,head neck,paraganglioma,benign c.482G>A p.R161Q 3:10149805-10149805 8
2 COSM6444480 VHL autonomic ganglia,abdomen,paraganglioma,benign c.191G>C p.R64P 3:10142038-10142038 8
3 COSM496 HRAS autonomic ganglia,abdomen,paraganglioma,benign c.181C>A p.Q61K 11:533875-533875 8
4 COSM486 HRAS autonomic ganglia,abdomen,paraganglioma,benign c.37G>C p.G13R 11:534286-534286 8
5 COSM499 HRAS autonomic ganglia,abdomen,paraganglioma,benign c.182A>G p.Q61R 11:533874-533874 8
6 COSM6188568 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1589C>T p.A530V 2:46380261-46380261 8
7 COSM6444478 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1615G>T p.D539Y 2:46380287-46380287 8
8 COSM6476264 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1600C>A p.P534T 2:46380272-46380272 8
9 COSM6476263 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1599C>G p.I533M 2:46380271-46380271 8
10 COSM6188660 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1592C>T p.P531L 2:46380264-46380264 8

Copy number variations for Paraganglioma from CNVD:

7 (show all 12)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13356 1 1 125000000 Loss Paraganglioma
2 15474 1 115900000 117600000 Deletion SDHB Paraganglioma
3 16419 1 124300000 128000000 In SDHC Paraganglioma
4 45379 10 70600000 135534747 Loss Paraganglioma
5 48331 3 10158318 10168746 Deletion VHL Paraganglioma
6 48508 11 1 53700000 Copy number Paraganglioma
7 76421 13 31100000 77800000 Gain Paraganglioma
8 82836 14 17600000 107349540 Loss Paraganglioma
9 106794 17 1 22200000 In NF1 Paraganglioma
10 107002 17 11200000 15900000 Deletion Paraganglioma
11 107512 17 15900000 22100000 Deletion Paraganglioma
12 160381 22 14700000 51304566 Loss Paraganglioma

Expression for Paraganglioma

Search GEO for disease gene expression data for Paraganglioma.

Pathways for Paraganglioma

GO Terms for Paraganglioma

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.63 SDHA SDHAF2 SDHB SDHC SDHD VHL
2 mitochondrial inner membrane GO:0005743 9.56 SDHA SDHB SDHC SDHD
3 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.73 NF1 SST TMEM127 VHL
2 electron transport chain GO:0022900 9.5 SDHA SDHB SDHC
3 regulation of long-term neuronal synaptic plasticity GO:0048169 9.4 NF1 SYP
4 respiratory electron transport chain GO:0022904 9.37 SDHA SDHB
5 tricarboxylic acid cycle GO:0006099 9.35 SDHA SDHAF2 SDHB SDHC SDHD
6 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.26 NF1 RET
7 succinate metabolic process GO:0006105 9.16 SDHA SDHB
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.92 SDHA SDHAF2 SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC
3 succinate dehydrogenase activity GO:0000104 9.26 SDHA SDHD
4 ubiquinone binding GO:0048039 9.13 SDHB SDHC SDHD
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHA SDHB SDHC SDHD

Sources for Paraganglioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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