PGL1
MCID: PRG018
MIFTS: 59

Paragangliomas 1 (PGL1)

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

Aliases & Classifications for Paragangliomas 1

MalaCards integrated aliases for Paragangliomas 1:

Name: Paragangliomas 1 57 20 72 29 6
Carotid Body Tumors 57 20 72 6
Carotid Body Paraganglioma 20 6 70
Glomus Jugulare Tumors 57 20 72
Paragangliomata 57 20 72
Chemodectomas 57 20 72
Pgl 57 20 72
Paragangliomas 1, with or Without Deafness 57 13
Paragangliomas Familial 1 20 72
Glomus Tumors Familial 1 20 72
Glomus Jugulare Tumor 17 70
Carotid Body Tumor 20 54
Glomus Tumor 20 70
Pgl1 57 72
Cbt1 57 72
Familial Paragangliomas Non-Chromaffin 1 with or Without Deafness 72
Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 20
Paragangliomas, Familial Nonchromaffin, 1 57
Familial Non-Chromaffin Paragangliomas 1 72
Paraganglioma - Glomus Jugulare 20
Paragangliomas, Familial, 1 57
Paraganglioma, Carotid Body 57
Extra-Adrenal Paraganglioma 70
Glomus Tumors, Familial, 1 57
Paraganglioma Carotid Body 72
Carotid Body Tumors; Cbt1 57
Glomus Tympanicum Tumor 70
Paragangliomas, Type 1 39
Paragangliomata; Pgl 57
Paraganglioma 70
Pgl 1 20
Cbt 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
signs and symptoms depend on tumor location and activity
patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both
cells of origin are part of the diffuse neuroendocrine system (dnes)
adult onset (mean 30 years, range 5-60 years)
maternal imprinting
penetrance 86% by 50 years of age
see also pgl2 , pgl3 , and pgl4


HPO:

31
paragangliomas 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



Summaries for Paragangliomas 1

OMIM® : 57 Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004). The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (604287). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (160980). Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. (168000) (Updated 20-May-2021)

MalaCards based summary : Paragangliomas 1, also known as carotid body tumors, is related to persistent generalized lymphadenopathy and hereditary paraganglioma-pheochromocytoma syndromes, and has symptoms including aphonia An important gene associated with Paragangliomas 1 is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, lung and pituitary, and related phenotypes are adrenal pheochromocytoma and extraadrenal pheochromocytoma

GARD : 20 A glomus jugulare tumor develops when cells in nerves near the temporal bone of the skull begin to rapidly increase in number, forming a mass. This tumor gets its name from the nerves, called glomus bodies, and their location in a small opening in the temporal bone, known as the jugulare foramen. Glomus jugulare tumors are included in a group of tumors called paragangliomas. They are usually benign, meaning cells in the tumor are unlikely to spread to other parts of the body. Symptoms of a glomus jugulare tumor include dizziness, difficulty swallowing, hearing issues, pain, or weakness in the muscles of the face. Treatment includes surgery to remove the tumor, sometimes followed by radiation therapy.

UniProtKB/Swiss-Prot : 72 Paragangliomas 1: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors.

Related Diseases for Paragangliomas 1

Diseases in the Paraganglioma family:

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

Diseases related to Paragangliomas 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 475)
# Related Disease Score Top Affiliating Genes
1 persistent generalized lymphadenopathy 30.8 SDHD SDHC SDHB SDHA
2 hereditary paraganglioma-pheochromocytoma syndromes 30.4 SDHD SDHC SDHB SDHA
3 neurofibromatosis 29.9 SDHD SDHB
4 cranial nerve palsy 29.7 SDHD SDHB
5 adrenal carcinoma 29.7 SDHD SDHB
6 glomus tumor 29.6 SDHD SDHB
7 neuroendocrine tumor 29.6 SDHD SDHB SDHA
8 cowden syndrome 1 29.5 SDHD SDHB
9 von hippel-lindau syndrome 29.1 SDHD SDHC SDHB
10 multiple endocrine neoplasia 29.1 SDHD SDHC SDHB
11 cowden syndrome 29.0 SDHD SDHC SDHB
12 pheochromocytoma-paraganglioma 28.9 SDHD SDHC SDHB SDHA
13 paraganglioma 28.9 SDHD SDHC SDHB SDHA
14 gastrointestinal stromal tumor 28.8 SDHD SDHC SDHB SDHA
15 neural crest tumor 28.7 SDHD SDHC SDHB SDHA
16 pheochromocytoma 28.7 SDHD SDHC SDHB SDHA
17 gastric leiomyosarcoma 28.7 SDHD SDHC SDHB SDHA
18 chondroma 28.6 SDHD SDHC SDHB SDHA
19 paraganglioma and gastric stromal sarcoma 28.6 SDHD SDHC SDHB SDHA
20 glomangiosarcoma 11.4
21 subungual glomus tumor 11.4
22 glomangioma 11.4
23 abdominal chemodectomas with cutaneous angiolipomas 11.4
24 skin glomus tumor 11.3
25 anxiety 11.3
26 tritanopia 11.2
27 obsessive-compulsive disorder 11.2
28 panic disorder 11.1
29 glomangiomatosis 11.1
30 asperger syndrome 11.1
31 fibromyalgia 10.9
32 paragangliomas 6 10.9
33 paragangliomas 7 10.9
34 body dysmorphic disorder 10.9
35 misophonia 10.9
36 post-traumatic stress disorder 10.6
37 depression 10.6
38 mental depression 10.5
39 generalized anxiety disorder 10.5
40 eating disorder 10.5
41 major depressive disorder 10.5
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
43 agoraphobia 10.5
44 mesenchymal cell neoplasm 10.4
45 facial paralysis 10.4
46 bulimia nervosa 10.4
47 social phobia 10.4
48 chronic pain 10.4
49 hydrocephalus 10.4
50 substance abuse 10.3

Graphical network of the top 20 diseases related to Paragangliomas 1:



Diseases related to Paragangliomas 1

Symptoms & Phenotypes for Paragangliomas 1

Human phenotypes related to Paragangliomas 1:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 adrenal pheochromocytoma 31 very rare (1%) HP:0006748
2 extraadrenal pheochromocytoma 31 very rare (1%) HP:0006737
3 hyperhidrosis 31 HP:0000975
4 cranial nerve paralysis 31 HP:0006824
5 vocal cord paralysis 31 HP:0001605
6 conductive hearing impairment 31 HP:0000405
7 hoarse voice 31 HP:0001609
8 tachycardia 31 HP:0001649
9 palpitations 31 HP:0001962
10 recurrent paroxysmal headache 31 HP:0002331
11 hypertension associated with pheochromocytoma 31 HP:0002640
12 episodic paroxysmal anxiety 31 HP:0000740
13 pulsatile tinnitus 31 HP:0008629
14 loss of voice 31 HP:0001686
15 elevated circulating catecholamine level 31 HP:0003334
16 glomus jugular tumor 31 HP:0003001
17 chemodectoma 31 HP:0030074
18 vagal paraganglioma 31 HP:0002886
19 glomus tympanicum paraganglioma 31 HP:0006715

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Voice:
loss of voice
hoarse voice (caused by tumor impingement)

Cardiovascular Heart:
palpitations (with pheochromocytoma)
tachycardia (with pheochromocytoma)

Skin Nails Hair Skin:
diaphoresis (with pheochromocytoma)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (with pheochromocytoma)

Respiratory Larynx:
vocal cord paralysis (caused by tumor impingement)

Head And Neck Ears:
pulsatile tinnitus (tympanic paraganglioma)
conductive hearing loss (in a subset of patients)

Cardiovascular Vascular:
hypertension (with pheochromocytoma)

Neurologic Central Nervous System:
headache (with pheochromocytoma)
cranial nerve palsies can arise with head and neck paragangliomas

Neoplasia:
paragangliomas
chemodectomas
glomus jugular tumors
multiple tumors in 74% of patients
paragangliomas, head and neck (79%)
more
Laboratory Abnormalities:
elevated catecholamines (in patients with pheochromocytoma)

Clinical features from OMIM®:

168000 (Updated 20-May-2021)

UMLS symptoms related to Paragangliomas 1:


aphonia

GenomeRNAi Phenotypes related to Paragangliomas 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.32 SDHC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.32 SDHC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.32 SDHD
4 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.32 SDHC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.32 SDHC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.32 SDHC SDHD
7 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.32 SDHC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.32 SDHC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.32 SDHC

MGI Mouse Phenotypes related to Paragangliomas 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.8 SDHB SDHC SDHD

Drugs & Therapeutics for Paragangliomas 1

Drugs for Paragangliomas 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 3 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 3 59-96-1 4768
3
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
4
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
6
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
7
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
8 3-Iodobenzylguanidine Phase 3
9 Vasodilator Agents Phase 3
10 Adrenergic alpha-1 Receptor Antagonists Phase 3
11 Adrenergic alpha-Antagonists Phase 3
12 Adrenergic Antagonists Phase 3
13 Adrenergic Agents Phase 3
14 Antihypertensive Agents Phase 3
15 Alkylating Agents Phase 2, Phase 3
16 Anti-Bacterial Agents Phase 2, Phase 3
17 Antibiotics, Antitubercular Phase 2, Phase 3
18
Isophosphamide mustard Phase 2, Phase 3 100427
19
Liposomal doxorubicin Phase 2, Phase 3 31703
20
Epinephrine Approved, Vet_approved Phase 1, Phase 2 51-43-4 5816
21
Racepinephrine Approved Phase 1, Phase 2 329-65-7 838
22
nivolumab Approved Phase 1, Phase 2 946414-94-4
23
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
24
Olaparib Approved Phase 2 763113-22-0 23725625
25
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
26
Pembrolizumab Approved Phase 2 1374853-91-4
27
Ipilimumab Approved Phase 2 477202-00-9
28
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
29
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
30
Lenvatinib Approved, Investigational Phase 2 417716-92-8
31
lanreotide Approved Phase 2 108736-35-2
32
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
33
Somatostatin Approved, Investigational Phase 1, Phase 2 51110-01-1, 38916-34-6 53481605
34
Octreotide Approved, Investigational Phase 1, Phase 2 83150-76-9 383414 6400441
35
Lysine Approved, Nutraceutical Phase 2 56-87-1 5962
36
Guadecitabine Investigational Phase 2 929901-49-5
37 Epinephryl borate Phase 1, Phase 2
38 Vaccines Phase 1, Phase 2
39 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
40 Fluorodeoxyglucose F18 Phase 2
41 Antineoplastic Agents, Immunological Phase 2
42 Immunoglobulins Phase 2
43 Antibodies, Monoclonal Phase 2
44 Antibodies Phase 2
45 Angiogenesis Inhibitors Phase 2
46 Angiopeptin Phase 2
47 Pharmaceutical Solutions Phase 2
48 Immunosuppressive Agents Phase 2
49 Immunologic Factors Phase 2
50
Erlotinib Hydrochloride Phase 2 183319-69-9 176871

Interventional clinical trials:

(show top 50) (show all 64)
# 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 Pazopanib Neoadjuvant Trial in Non-Rhabdomyosarcoma Soft Tissue Sarcomas (PAZNTIS): A Phase II/III Randomized Trial of Preoperative Chemoradiation or Preoperative Radiation Plus or Minus Pazopanib (NSC# 737754) Active, not recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
5 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
6 A Phase 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Completed NCT01635907 Phase 2 Dovitinib
7 A Phase II Trial of the DNA Methyl Transferase Inhibitor, SGI-110 (Guadecitabine), In Children And Adults With Wild Type GIST, Pheochromocytoma And Paraganglioma Associated With Succinate Dehydrogenase Deficiency And HLRCC-Associated Kidney Cancer Completed NCT03165721 Phase 2 SGI-110 (guadecitabine)
8 A Phase 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
9 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Completed NCT01967576 Phase 2 Axitinib (AG-013736)
10 A Phase II Study of 131I-labeled Metaiodobenzylguanidine (MIBG) for Treatment of Patients With Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
11 A Phase 2 Study of Linsitinib (OSI-906) in Pediatric and Adult Wild Type Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
12 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
13 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
14 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
15 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
16 A Prospective, Multi-Institutional Phase II Trial Evaluating Temozolomide vs. Temozolomide and Olaparib for Advanced Pheochromocytoma and Paraganglioma Recruiting NCT04394858 Phase 2 Olaparib;Temozolomide
17 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
18 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
19 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
20 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
21 A Phase I/IIA, Multi-Centre, Open-Label, Dose-Escalation Study With Expansion Arms to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of CB-103 Administered Orally in Adult Patients With Advanced or Metastatic Solid Tumours and Haematological Malignancies Characterised by Alterations of the NOTCH Signalling Pathway Recruiting NCT03422679 Phase 1, Phase 2 CB-103
22 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
23 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
24 A Investigator Initiated Phase II Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
25 A Phase II Study Evaluating the Efficacy and Safety of Ultratrace Iobenguane I 131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
26 Phase II Trial of Lenvatinib in Metastatic or Advanced Pheochromocytoma and Paraganglioma Active, not recruiting NCT03008369 Phase 2 Lenvatinib
27 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
28 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
29 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
30 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
31 Evaluation of Gallium-68 DOTA-TOC Imaging of Somatostatin Receptor Positive Malignancies Terminated NCT02177773 Phase 1, Phase 2 Gallium Ga 68-Edotreotide
32 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
33 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
34 Phase I Clinical Trial of Temsirolimus and Vinorelbine in Advanced Solid Tumors. Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
35 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
36 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
37 Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma Recruiting NCT00004847 Phase 1 ([18F]-DOPA);[68Ga]-DOTATATE;([18F]-6F-DA)
38 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
39 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
40 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
41 Compassionate Use of 131I-MIBG for Patients With Malignant Pheochromocytoma Approved for marketing NCT01377532 131 I-Metaiodobenzylguanidine (131 I-MIBG)
42 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
43 The COMETE Network, Towards an Easy-to-use Adrenal Cancer/Tumor Identity Card Completed NCT02672020
44 Evaluation Des méthodes de dépistage du Paragangliome héréditaire Chez Les Sujets prédisposés génétiquement Completed NCT00188019
45 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407
46 Phase IV Trial Evaluating the Use of Stereotactic Body Radiotherapy for the Treatment of Spine Metastases and Primary Spine Tumors Completed NCT01347307
47 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
48 Development of a Tele-monitoring Program for Patients Undergoing Surgery for Pheochromocytoma and / or Paraganglioma Recruiting NCT04573816
49 The MUPPET-study: Multicenter Pheochromocytoma and Paraganglioma Evaluation for Follow-up Screening, Genetics Sub-Typing, Therapy and Outcome Recruiting NCT03344016
50 Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions Recruiting NCT03160274

Search NIH Clinical Center for Paragangliomas 1

Genetic Tests for Paragangliomas 1

Genetic tests related to Paragangliomas 1:

# Genetic test Affiliating Genes
1 Paragangliomas 1 29 SDHD

Anatomical Context for Paragangliomas 1

MalaCards organs/tissues related to Paragangliomas 1:

40
Thyroid, Lung, Pituitary, Thymus, Skin, Heart, Lymph Node

Publications for Paragangliomas 1

Articles related to Paragangliomas 1:

(show top 50) (show all 666)
# Title Authors PMID Year
1
SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism. 54 6 57
15032977 2004
2
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 54 57 6
11391796 2001
3
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 6 57
21348866 2012
4
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 57 6
19584903 2010
5
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. 6 57
18211978 2008
6
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 57 6
16317055 2006
7
SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas. 57 6
15479192 2004
8
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 6 57
15328326 2004
9
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 57 6
12811540 2003
10
Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. 6 57
12111639 2002
11
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 6 57
11897817 2002
12
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. 6 57
11343322 2001
13
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 6 57
11156372 2000
14
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 6 57
10657297 2000
15
Genetic testing in head and neck paraganglioma: who, what, and why? 6 61
24436918 2013
16
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. 6 61
20098451 2010
17
Carotid body paraganglioma and SDHD mutation in a Greek family. 6 54
16080474 2005
18
Carotid body tumors in humans: genetics and epidemiology. 57 61
6951072 1982
19
Familial carotid body tumors: case report and epidemiologic review. 61 57
7000334 1980
20
Familial carotid body tumors. 57 61
4699542 1973
21
Carotid body tumors. Familial and bilateral. 57 61
5420930 1970
22
CAROTID BODY TUMORS IN A LARGE FAMILY GROUP. 61 57
14211450 1964
23
HEREDITARY DEFICIENCIES OF CLOTTING FACTORS VII AND X ASSOCIATED WITH CAROTID-BODY TUMORS. 61 57
14062129 1964
24
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. 6
31492822 2020
25
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. 6
30050099 2019
26
The impact of variant classification on the clinical management of hereditary cancer syndromes. 6
29875428 2019
27
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. 6
29386252 2018
28
Cardiac paraganglioma with a novel germline mutation of succinate dehydrogenase gene D. 6
28977582 2017
29
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 6
27539324 2016
30
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 6
27279923 2016
31
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 6
26269449 2015
32
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 6
26008905 2015
33
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 6
25720320 2015
34
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 6
25494863 2015
35
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 6
25275255 2014
36
Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. 6
23902947 2013
37
Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 6
23433498 2013
38
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 6
23512077 2013
39
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations. 57
22948026 2013
40
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 6
23175444 2013
41
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 6
22382802 2012
42
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 6
22517554 2012
43
The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. 6
22456618 2012
44
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 6
22241717 2012
45
Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas. 6
21945342 2012
46
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 6
21937622 2011
47
Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy. 6
22025150 2011
48
Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients? 6
21792967 2011
49
Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria. 6
20111059 2010
50
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 6
19802898 2010

Variations for Paragangliomas 1

ClinVar genetic disease variations for Paragangliomas 1:

6 (show top 50) (show all 308)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHD SDHD, 96-KB DEL Deletion Pathogenic 6914 GRCh37:
GRCh38:
2 SDHD NM_003002.3(SDHD):c.-84_*831del Deletion Pathogenic 239459 GRCh37: 11:111957548-111966525
GRCh38: 11:112086824-112095801
3 SDHD NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) SNV Pathogenic 6892 rs104894303 GRCh37: 11:111958634-111958634
GRCh38: 11:112087910-112087910
4 SDHD NM_003002.4(SDHD):c.52+2T>G SNV Pathogenic 6894 rs587776644 GRCh37: 11:111957685-111957685
GRCh38: 11:112086961-112086961
5 SDHD NM_003002.4(SDHD):c.337_338insT (p.Asp113fs) Insertion Pathogenic 6899 rs587776645 GRCh37: 11:111965551-111965552
GRCh38: 11:112094827-112094828
6 SDHD NM_003002.4(SDHD):c.443del (p.Gly148fs) Deletion Pathogenic 6902 rs587776646 GRCh37: 11:111965655-111965655
GRCh38: 11:112094931-112094931
7 SDHD NM_003002.4(SDHD):c.278_280del (p.Tyr93del) Deletion Pathogenic 6905 rs121908983 GRCh37: 11:111959698-111959700
GRCh38: 11:112088974-112088976
8 SDHD NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) SNV Pathogenic 6907 rs80338847 GRCh37: 11:111965630-111965630
GRCh38: 11:112094906-112094906
9 SDHD NM_003002.4(SDHD):c.463del (p.Met155fs) Deletion Pathogenic 6910 rs587776647 GRCh37: 11:111965677-111965677
GRCh38: 11:112094953-112094953
10 SDHD NM_003002.4(SDHD):c.315G>A (p.Trp105Ter) SNV Pathogenic 412497 rs1060503769 GRCh37: 11:111965529-111965529
GRCh38: 11:112094805-112094805
11 SDHD NM_003002.4(SDHD):c.336dup (p.Asp113Ter) Duplication Pathogenic 547770 rs1555187583 GRCh37: 11:111965549-111965550
GRCh38: 11:112094825-112094826
12 SDHD NG_012337.3(SDHD):g.11847_14024del Deletion Pathogenic 598762 GRCh37: 11:111964415-111966592
GRCh38: 11:112093691-112095868
13 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) SNV Pathogenic 6893 rs80338843 GRCh37: 11:111958640-111958640
GRCh38: 11:112087916-112087916
14 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
15 SDHD NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) SNV Pathogenic 6897 rs80338845 GRCh37: 11:111959695-111959695
GRCh38: 11:112088971-112088971
16 SDHD NM_003002.4(SDHD):c.305A>T (p.His102Leu) SNV Pathogenic 6898 rs104894302 GRCh37: 11:111959726-111959726
GRCh38: 11:112089002-112089002
17 SDHD NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) SNV Pathogenic 6900 rs104894304 GRCh37: 11:111965555-111965555
GRCh38: 11:112094831-112094831
18 SDHD NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) SNV Pathogenic 6901 rs104894305 GRCh37: 11:111958623-111958623
GRCh38: 11:112087899-112087899
19 SDHD NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) SNV Pathogenic 6903 rs104894306 GRCh37: 11:111958592-111958592
GRCh38: 11:112087868-112087868
20 SDHD NM_003002.4(SDHD):c.3G>C (p.Met1Ile) SNV Pathogenic 6906 rs80338842 GRCh37: 11:111957634-111957634
GRCh38: 11:112086910-112086910
21 SDHD NM_003002.4(SDHD):c.92_93TC[1] (p.Ala33fs) Microsatellite Pathogenic 6908 rs397514034 GRCh37: 11:111958620-111958621
GRCh38: 11:112087896-112087897
22 SDHD NM_003002.4(SDHD):c.1A>G (p.Met1Val) SNV Pathogenic 6911 rs104894307 GRCh37: 11:111957632-111957632
GRCh38: 11:112086908-112086908
23 SDHD NM_003002.4(SDHD):c.337_340del (p.Asp113fs) Deletion Pathogenic 6912 rs587776648 GRCh37: 11:111965548-111965551
GRCh38: 11:112094824-112094827
24 SDHD NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) SNV Pathogenic 6913 rs104894308 GRCh37: 11:111958657-111958657
GRCh38: 11:112087933-112087933
25 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) SNV Pathogenic 6893 rs80338843 GRCh37: 11:111958640-111958640
GRCh38: 11:112087916-112087916
26 SDHD NM_003002.4(SDHD):c.242del (p.Pro81fs) Deletion Pathogenic 239464 rs878854591 GRCh37: 11:111959662-111959662
GRCh38: 11:112088938-112088938
27 SDHD NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) SNV Pathogenic 239470 rs878854594 GRCh37: 11:111965575-111965575
GRCh38: 11:112094851-112094851
28 SDHD NM_003002.4(SDHD):c.10dup (p.Leu4fs) Duplication Pathogenic 239460 rs878854589 GRCh37: 11:111957640-111957641
GRCh38: 11:112086916-112086917
29 SDHD NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) SNV Pathogenic 412498 rs1060503770 GRCh37: 11:111965539-111965539
GRCh38: 11:112094815-112094815
30 SDHD NM_003002.4(SDHD):c.1A>G (p.Met1Val) SNV Pathogenic 6911 rs104894307 GRCh37: 11:111957632-111957632
GRCh38: 11:112086908-112086908
31 SDHD NM_003002.4(SDHD):c.173del (p.Gly58fs) Deletion Pathogenic 239461 rs878854590 GRCh37: 11:111959593-111959593
GRCh38: 11:112088869-112088869
32 SDHD NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) SNV Pathogenic 6915 rs104894309 GRCh37: 11:111957664-111957664
GRCh38: 11:112086940-112086940
33 SDHD NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) SNV Pathogenic 438437 rs1050032491 GRCh37: 11:111965556-111965556
GRCh38: 11:112094832-112094832
34 SDHD NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) SNV Pathogenic 6913 rs104894308 GRCh37: 11:111958657-111958657
GRCh38: 11:112087933-112087933
35 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
36 SDHD NM_003002.4(SDHD):c.187_188TC[2] (p.Leu64fs) Microsatellite Pathogenic 6904 rs387906358 GRCh37: 11:111959608-111959609
GRCh38: 11:112088884-112088885
37 SDHD NM_003002.4(SDHD):c.170-1G>T SNV Pathogenic 438434 rs1306475361 GRCh37: 11:111959590-111959590
GRCh38: 11:112088866-112088866
38 SDHD NM_003002.4(SDHD):c.57del (p.Leu20fs) Deletion Pathogenic 6917 rs587776649 GRCh37: 11:111958585-111958585
GRCh38: 11:112087861-112087861
39 SDHD NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) SNV Pathogenic 6903 rs104894306 GRCh37: 11:111958592-111958592
GRCh38: 11:112087868-112087868
40 SDHD NM_003002.4(SDHD):c.305A>T (p.His102Leu) SNV Pathogenic 6898 rs104894302 GRCh37: 11:111959726-111959726
GRCh38: 11:112089002-112089002
41 SDHD NC_000011.10:g.(?_112094799)_(112094976_?)del Deletion Pathogenic 533799 GRCh37: 11:111965523-111965700
GRCh38: 11:112094799-112094976
42 SDHD NM_003002.4(SDHD):c.317G>T (p.Gly106Val) SNV Pathogenic 480806 rs1555187574 GRCh37: 11:111965531-111965531
GRCh38: 11:112094807-112094807
43 SDHD NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) SNV Pathogenic 142068 rs587782210 GRCh37: 11:111958683-111958683
GRCh38: 11:112087959-112087959
44 SDHD NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) SNV Pathogenic 6900 rs104894304 GRCh37: 11:111965555-111965555
GRCh38: 11:112094831-112094831
45 SDHD NM_003002.4(SDHD):c.3G>A (p.Met1Ile) SNV Pathogenic 579968 rs80338842 GRCh37: 11:111957634-111957634
GRCh38: 11:112086910-112086910
46 SDHD NC_000011.10:g.(?_112086898)_(112094980_?)del Deletion Pathogenic 584168 GRCh37: 11:111957622-111965704
GRCh38: 11:112086898-112094980
47 SDHD NC_000011.10:g.(?_112094795)_(112094980_?)del Deletion Pathogenic 584289 GRCh37: 11:111965519-111965704
GRCh38: 11:112094795-112094980
48 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
49 SDHD NM_003002.4(SDHD):c.3G>C (p.Met1Ile) SNV Pathogenic 6906 rs80338842 GRCh37: 11:111957634-111957634
GRCh38: 11:112086910-112086910
50 SDHD NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) SNV Pathogenic 6897 rs80338845 GRCh37: 11:111959695-111959695
GRCh38: 11:112088971-112088971

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 1:

72
# Symbol AA change Variation ID SNP ID
1 SDHD p.Pro81Leu VAR_010038 rs80338844
2 SDHD p.Asp92Tyr VAR_010039 rs80338845
3 SDHD p.His102Leu VAR_010040 rs104894302
4 SDHD p.Tyr114Cys VAR_017872 rs104894304
5 SDHD p.Leu139Pro VAR_017873 rs80338847
6 SDHD p.Gly148Val VAR_054385 rs155518763

Expression for Paragangliomas 1

Search GEO for disease gene expression data for Paragangliomas 1.

Pathways for Paragangliomas 1

Pathways related to Paragangliomas 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 SDHD SDHC SDHB SDHA
2
Show member pathways
12.76 SDHD SDHC SDHB SDHA
3
Show member pathways
12.28 SDHD SDHC SDHB SDHA
4
Show member pathways
11.78 SDHD SDHC SDHB SDHA
5
Show member pathways
11.37 SDHD SDHC SDHB SDHA
6
Show member pathways
10.94 SDHD SDHC SDHB SDHA

GO Terms for Paragangliomas 1

Cellular components related to Paragangliomas 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 SDHD SDHC SDHB SDHA
2 mitochondrial inner membrane GO:0005743 9.46 SDHD SDHC SDHB SDHA
3 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

Biological processes related to Paragangliomas 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.62 SDHD SDHC SDHB SDHA
2 aerobic respiration GO:0009060 9.4 SDHC SDHB
3 respiratory electron transport chain GO:0022904 9.37 SDHB SDHA
4 electron transport chain GO:0022900 9.33 SDHC SDHB SDHA
5 succinate metabolic process GO:0006105 9.26 SDHB SDHA
6 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHD SDHC SDHA
7 tricarboxylic acid cycle GO:0006099 8.92 SDHD SDHC SDHB SDHA

Molecular functions related to Paragangliomas 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.37 SDHD SDHC
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHC SDHA
3 ubiquinone binding GO:0048039 9.26 SDHD SDHB
4 electron transfer activity GO:0009055 9.26 SDHD SDHC SDHB SDHA
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHA
6 succinate dehydrogenase activity GO:0000104 8.8 SDHD SDHC SDHA

Sources for Paragangliomas 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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