Paraganglioma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRG013 MIFTS: 58	Paraganglioma Categories: Cancer diseases, Ear diseases, Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Cancer diseases Rare diseases
Anatomical: Endocrine diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050773

MeSH ⁴⁴ D010235

NCIt ⁵⁰ C3308

SNOMED-CT ⁶⁸ 72787006 803009

UMLS ⁷³ C0030421 C0007279 C0030422

Sources

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...

Sources

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:

Sources

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

Sources

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

Doxazosin

Approved

Phase 4,Phase 3

74191-85-8

3157

Phenoxybenzamine

Approved

Phase 4,Phase 3

59-96-1

4768

Adrenergic Agents

Phase 4,Phase 3,Not Applicable

Neurotransmitter Agents

Phase 4,Phase 3,Not Applicable

Vasodilator Agents

Phase 4,Phase 3

Adrenergic alpha-1 Receptor Antagonists

Phase 4,Phase 3

Adrenergic alpha-Antagonists

Phase 4,Phase 3

Antihypertensive Agents

Phase 4,Phase 3

Adrenergic Antagonists

Phase 4,Phase 3

Somatostatin

Approved, Investigational

Phase 2, Phase 3,Phase 1

51110-01-1, 38916-34-6

53481605

Lenograstim

Approved, Investigational

Phase 3

135968-09-1

Ifosfamide

Approved

Phase 3

3778-73-2

3690

Doxorubicin

Approved, Investigational

Phase 3,Phase 2

23214-92-8

31703

Mechlorethamine

Approved, Investigational

Phase 3

51-75-2

4033

Rifampicin

Approved

Phase 3

13292-46-1

5458213 5381226

Doxil

Approved June 1999

Phase 3,Phase 2

31703

Radiopharmaceuticals

Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1

3-Iodobenzylguanidine

Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1

Hormones

Phase 2, Phase 3,Phase 1

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 2, Phase 3,Phase 1

Hormone Antagonists

Phase 2, Phase 3,Phase 1

Isophosphamide mustard

Phase 3

Anti-Bacterial Agents

Phase 3,Phase 2,Phase 1

Topoisomerase Inhibitors

Phase 3,Phase 2

Antibiotics, Antitubercular

Phase 3,Phase 2,Phase 1

Antineoplastic Agents, Alkylating

Phase 3,Phase 1

Alkylating Agents

Phase 3,Phase 1

Anti-Infective Agents

Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Nucleic Acid Synthesis Inhibitors

Phase 3

Cytochrome P-450 CYP3A Inducers

Phase 3

Antitubercular Agents

Phase 3

Racepinephrine

Approved

Phase 2,Not Applicable

329-65-7

838

Epinephrine

Approved, Vet_approved

Phase 2,Not Applicable

51-43-4

5816

Iodine

Approved, Investigational

Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1

7553-56-2

807

Sunitinib

Approved, Investigational

Phase 2

557795-19-4, 341031-54-7

5329102

Everolimus

Approved

Phase 2,Phase 1

159351-69-6

6442177

Sirolimus

Approved, Investigational

Phase 2,Phase 1

53123-88-9

46835353 6436030 5284616

Miconazole

Approved, Investigational, Vet_approved

Phase 2,Phase 1

22916-47-8

4189

Octreotide

Approved, Investigational

Phase 1, Phase 2,Phase 2

83150-76-9

383414 6400441

Methylprednisolone hemisuccinate

Approved

Phase 2

2921-57-5

Prednisolone

Approved, Vet_approved

Phase 2

50-24-8

5755

Methylprednisolone

Approved, Vet_approved

Phase 2

83-43-2

6741

Prednisolone phosphate

Approved, Vet_approved

Phase 2

302-25-0

Carbidopa

Approved

Phase 2

28860-95-9

34359 38101

Tamoxifen

Approved

Phase 2

10540-29-1

2733526

Cisplatin

Approved

Phase 2

15663-27-1

2767 441203 84093

Lenvatinib

Approved, Investigational

Phase 2

417716-92-8

Azacitidine

Approved, Investigational

Phase 2

320-67-2

9444

Nivolumab

Approved

Phase 2

946414-94-4

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

Sources

Genetic Tests for Paraganglioma

Genetic tests related to Paraganglioma:

#	Genetic test	Affiliating Genes
1	Paraganglioma ²⁹
2	Chemodectoma ²⁹

Sources

Anatomical Context for Paraganglioma

MalaCards organs/tissues related to Paraganglioma:

⁴¹

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

Sources

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 )	Yuan M....Wang W.	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 )	Kapetanakis S....Givissis P.	2018
3	VMAT Stereotactic Body Radiation Therapy in a Multimodal Approach to a Carotid Paraganglioma in a Dog. ( 29372869 )	Dolera M....Malfassi L.	2018
4	68Ga-PSMA-HBED-CC-Avid Synchronous Urinary Bladder Paraganglioma in a Patient With Metastatic Prostate Carcinoma. ( 29916916 )	Parihar A.S....Singh S.K.	2018
5	Paraganglioma of the Urinary Bladder: A Rare Cause of Hypertension and Urinary Tract Infections. ( 29406048 )	Chaaya G....Asmar A.	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 )	Bacalbasa N....Brasoveanu V.	2018
7	A Long-Standing Primary Vaginal Paraganglioma-Coexisting with Esophageal Carcinoma. ( 29887722 )	Sharma S....Sikka P.	2018
8	Oropharyngeal paraganglioma presenting with stridor: an unusual presentation. ( 29973412 )	Samal S....Patra S.	2018
9	Carotid body paraganglioma: a rare pathology but not to be forgotten. ( 29431492 )	Kendall T....Rajagopalan S.	2018
10	Pathogenicity and Penetrance of Germline <i>SDHA</i> Variants in Pheochromocytoma and Paraganglioma (PPGL). ( 29978154 )	Maniam P....Newey P.J.	2018
11	Results of a systematic literature review of treatment modalities for jugulotympanic paraganglioma, stratified per Fisch class. ( 29222838 )	Jansen T.T.G....Kunst H.P.M.	2018
12	PHD2 inactivation in Type I cells drives HIF-2I+ dependent multi-lineage hyperplasia and the formation of paraganglioma-like carotid bodies. ( 29917232 )	Fielding J.W....Bishop T.	2018
13	Retroperitoneal paraganglioma in a patient with Fontan: The hypoxia connection. ( 29922019 )	Deshpande S.R....Clifton M.S.	2018
14	Functional Ulnar Nerve Paraganglioma: First Documented Occurrence in the Extremity With Hitherto Undescribed Associated Extensive Glomus Cell Hyperplasia and Tumorlet Formation. ( 28697655 )	Chow L.T.C....Wong S.K.C.	2018
15	Immediate Clinical Success After Percutaneous Ablation of Extra-adrenal Paraganglioma. ( 29922859 )	Ierardi A.M....Carrafiello G.	2018
16	Case - Bladder paraganglioma in a pediatric patient. ( 29405904 )	Malhotra A.K....Masterson J.	2018
17	Molecular imaging and theranostic approaches in pheochromocytoma and paraganglioma. ( 29450723 )	TaA^eb D....Pacak K.	2018
18	Diagnosis of paraganglioma as a pancreatic mass: A case report. ( 29882285 )	Nguyen E....Lu D.	2018
19	Application of Three-Dimensional Visualization Technology in Laparoscopic Surgery for Pheochromocytoma/Paraganglioma: A Single-Center Experience. ( 29406808 )	Zhang B....Chen X.	2018
20	Pathology and genetics of phaeochromocytoma and paraganglioma. ( 29239044 )	Turchini J....Gill A.J.	2018
21	The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )	Udager A.M....Mehra R.	2018
22	A clinical prediction model to estimate the metastatic potential of pheochromocytoma/paraganglioma: ASES score. ( 29929757 )	Cho Y.Y....Lee S.H.	2018
23	Metabolic implications of hypoxia and pseudohypoxia in pheochromocytoma and paraganglioma. ( 29450727 )	Kluckova K....Tennant D.A.	2018
24	Pheochromocytoma and paraganglioma: genotype versus anatomic location as determinants of tumor phenotype. ( 29362886 )	Fliedner S.M.J....Lehnert H.	2018
25	Predicting Genotype with Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma. ( 29391129 )	Yan Q....Young W.F.	2018
26	A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated with an SDHC Germline Mutation. ( 29878124 )	Ong R.K.S....Shawa H.	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&gt;C Mutation Is Responsible for Hereditary Pheochromocytoma/Paraganglioma Syndrome. ( 29925701 )		2018
42	Paraganglioma presenting as acute myocardial infarction. ( 30069397 )	Hu J...Yan Y	2018
43	Retroperitoneal Paraganglioma-Induced Cardiogenic Shock Rescued by Preoperative Arterial Embolization. ( 30073095 )	Houari N...Kanjaa N	2018
44	Simultaneous resection of endometrial cancer and high-level paraaortic paraganglioma using retroperitoneoscopic surgery. ( 30094312 )	Nakao K...Hoshiba T	2018
45	Multifocal pheochromocytoma-paraganglioma in a 29-year-old woman with cyanotic congenital heart disease. ( 30340856 )	Wcislak SM...Dickson PV	2018
46	Recent advances in the management of malignant pheochromocytoma and paraganglioma: focus on tyrosine kinase and hypoxia-inducible factor inhibitors. ( 30109021 )	Toledo R...Jimenez C	2018
47	Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma. ( 29099418 )	Ferrara AM...Zovato S	2018
48	131-I MIBG therapy of malignant pheochromocytoma and paraganglioma tumours - a single-centre study. ( 29645065 )	Kotecka-Blicharz A...Jarz?b B	2018
49	Current status of functional imaging in neuroblastoma, pheochromocytoma, and paraganglioma disease. ( 30182289 )	Kroiss AS	2018
50	Subcutaneous ureteral bypass for treatment of bilateral ureteral obstruction in a cat with retroperitoneal paraganglioma. ( 30311526 )	Borchert C...Weisse C	2018

Sources

Genes for Paraganglioma

Genes related to Paraganglioma (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	471.29	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	15066320 11526495 15328326 (more) 15905695 17102086 11897817 12467161 16317055 19550080 15746863 19432956 15066320 19576851 17227803 19454582 19546167 20071235 17041923 11391798 16080530 11404820 16001332 11692162 18551016 17526943 11397905 11323050 15531530 15479192 12351569 19239085 17490127 19584903 19318336 17308434 12007193 13679447 11605159 12782822 12811540 16098460 16857415 15235042 15473885 19368708 17487275 14685938 12618904 19411806 18519664 17298303 16405730 12509798 19233206 18211978 18362451 17376234 17102089 17102079 16330941 16288654 15883710 14674304 14974914 12883710 12618761 12218630 11391796 19956719 19768395 19215943 17636259 17578179 16982587 17119341 17102076 16735973 16061554 16249420 15762191 12386824 12231007 11343322 15832076 15064708 14500403 10657297 19522823 17936061 17848412 20111059 19825962 19522821 19205158 18826997 19027316 18224469 17973943 15331017 14595761
2	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	61.58	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	19576851 18551016 18362451 (more) 18382370 20379037 16405730 16912137 17102086 16317055 19261994 15328326 16080530 20236688 19184535 16258955 19522823 11897817 20071235 14685938 19432956 17987308 11404820 12618761 18419787 19454582 19145771 16982587 20503330 19949549 15479192 12351569 19189136 17102085 19694205 16288654 14974914 19415531 18978332 16001332 15473885 18310297 17490127 18213727 11692162 18826997 18509008 18224469 17973943 17143317 17041923 16472267 15988378 15235042 16954163 17102078 15987702 15064708 14500403 20498024 17936061 18057081 17848412 17208193 17102089 17102079 16330941 15883710 14674304 17227803 17487275 15476441 14715873 18519664 17538171 17298303 17373214 14708972 12213855 12467161 20305538 19768395 19215943 19190077 17636259 17578179 17599579 17200167 17119341 17159241 17102076 16735973 15531530 12231007 19550080 20398431 20111059 19825962 19546167 19596260
3	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	60.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	17102086 16405730 19546167 (more) 20071235 11897817 19576851 16249420 16001332 17557926 19454582 14974914 12658451 15479192 11404820 11692162 16080530 19336503 11062460 15473885 12351569 12231007 20111059 19522821 19239085 18826997 18978332 17973943 17490127 12205103 19233206 17376234 17102089 17102079 16330941 15342702 14674304 18519664 20236688 19808854 17102077 16735498 16080474 17298303 12467161 19906784 19768395 17636259 17898811 16982587 16322339 19368708 17487275 15883704 14685938 19411806 18681855 15832076 15064708 20498024 19522823 17936061 17848412 16735973 15531530 15235042 19432956 16467230 16857415 16098460 12782822 15905695
4	SDHAF2	Succinate Dehydrogenase Complex Assembly Factor 2	Protein Coding	56.29	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Gene name Summaries Variants (show sections)
5	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	37.74	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11404820 11692162 16288654
6	TMEM127	Transmembrane Protein 127	Protein Coding	36.23	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
7	CHGA	Chromogranin A	Protein Coding	34.85	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7599788 8058707 17614779 (more) 2188235 10442464 11762355 16918946 12584998 10209712 1754507 18410271 8611199
8	RET	Ret Proto-Oncogene	Protein Coding	34.82	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10998441 10878547 7889627 (more) 16001332 16098460 15988378 19825962 17102076 17102089 20236688 17525480 16388093 16735498 9509062 20205103 15875728 17119341 17102082 18551016 19145771 19215943 19906784
9	SYP	Synaptophysin	Protein Coding	34.35	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8358154 10442464 15806520 (more) 1612583 8611199
10	MAX	MYC Associated Factor X	Protein Coding	33.27	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
11	ENO2	Enolase 2	Protein Coding	32.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8358154 17614779 1754507 (more) 8611199 1799335
12	NF1	Neurofibromin 1	Protein Coding	31.85	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	16001332 16098460 19215943 (more) 17102089 16735498 17525480
13	SST	Somatostatin	Protein Coding	31.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	19245777 2160422 9279569 (more) 11762340 8968869 7799058 2170840 7908199 7479353 12943613 1349024 11155013 2125001 8935599 8125073 16094109 17102116
14	VHL	Von Hippel-Lindau Tumor Suppressor	Protein Coding	31.12	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	16001332 16098460 15988378 (more) 19825962 10589785 16954163 17578179 18551016 19145771 19223516 19215943 17102089 18039096 20205103 16735498 17525480 20236688

Sources

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

Sources

Expression for Paraganglioma

Search GEO for disease gene expression data for Paraganglioma.

Sources

Pathways for Paraganglioma

Pathways related to Paraganglioma according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ⁴	12.09	ENO2 NF1 RET SYP
2	Carbon metabolism ³⁷ Show member pathways 2-Oxocarboxylic acid metabolism ³⁷ Biosynthesis of amino acids ³⁷ formaldehyde oxidation ¹	11.68	ENO2 SDHA SDHB SDHC SDHD
3	Pyruvate metabolism and Citric Acid (TCA) cycle ⁶⁶ Show member pathways Citric acid cycle (TCA cycle) ⁶⁶ Interconversion of 2-oxoglutarate and 2-hydroxyglutarate ⁶⁶ NAD phosphorylation and dephosphorylation ¹ Pyruvate metabolism ⁶⁶ Regulation of pyruvate dehydrogenase (PDH) complex ⁶⁶ TCA Cycle ¹	11.57	SDHA SDHB SDHC SDHD
4	Citrate cycle (TCA cycle) ³⁷ Show member pathways pyruvate decarboxylation to acetyl CoA ¹ superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle ¹ TCA cycle ¹ TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc) ¹	11.03	ENO2 SDHA SDHB SDHC SDHD

Sources

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

Sources for Paraganglioma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia