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 58 54 76 30 6
Glomus Jugulare Tumors 58 54 76
Carotid Body Tumors 58 54 76
Paragangliomata 58 54 76
Chemodectomas 58 54 76
Pgl 58 54 76
Paragangliomas 1, with or Without Deafness 58 13
Carotid Body Paraganglioma 54 74
Paragangliomas Familial 1 54 76
Glomus Tumors Familial 1 54 76
Glomus Jugulare Tumor 17 74
Carotid Body Tumor 54 56
Glomus Tumor 54 74
Pgl1 58 76
Cbt1 58 76
Familial Paragangliomas Non-Chromaffin 1 with or Without Deafness 76
Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 54
Paragangliomas, Familial Nonchromaffin, 1 58
Familial Non-Chromaffin Paragangliomas 1 76
Paraganglioma - Glomus Jugulare 54
Paragangliomas, Familial, 1 58
Paraganglioma, Carotid Body 58
Extra-Adrenal Paraganglioma 74
Glomus Tumors, Familial, 1 58
Paraganglioma Carotid Body 76
Carotid Body Tumors; Cbt1 58
Glomus Tympanicum Tumor 74
Paragangliomas, Type 1 41
Paragangliomata; Pgl 58
Paraganglioma 74
Chemodectoma 6
Pgl 1 54
Cbt 54

Characteristics:

OMIM:

58
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:

33
paragangliomas 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 1

OMIM : 58 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)

MalaCards based summary : Paragangliomas 1, also known as glomus jugulare 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 Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and testes, and related phenotypes are extraadrenal pheochromocytoma and adrenal pheochromocytoma

NIH Rare Diseases : 54 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 : 76 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 Nonsyndromic Paraganglioma

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

(show top 50) (show all 249)
# Related Disease Score Top Affiliating Genes
1 persistent generalized lymphadenopathy 32.5 SDHB SDHC SDHD
2 hereditary paraganglioma-pheochromocytoma syndromes 30.2 RET SDHB SDHC SDHD TIMM8B
3 glomus tumor 30.2 SDHB SDHD
4 ganglioneuroma 29.6 CHGA RET
5 chondroma 29.5 SDHB SDHC SDHD
6 hyperparathyroidism 29.5 CHGA RET
7 neurofibromatosis, type iv, of riccardi 29.4 RET SDHB SDHC SDHD
8 hemangioma 29.4 CHGA RET
9 parathyroid adenoma 29.4 CHGA RET
10 gastrointestinal stromal tumor 29.2 CHGA SDHB SDHC SDHD
11 von hippel-lindau syndrome 28.7 CHGA RET SDHB SDHC SDHD
12 multiple endocrine neoplasia 28.6 CHGA RET SDHB SDHC
13 pheochromocytoma 28.6 CHGA RET SDHB SDHC SDHD TIMM8B
14 paraganglioma 28.2 CHGA RET SDHB SDHC SDHD
15 subungual glomus tumor 12.4
16 abdominal chemodectomas with cutaneous angiolipomas 12.4
17 skin glomus tumor 12.3
18 chemodectoma, intraabdominal, with cutaneous angiolipomas 12.1
19 non-secreting chemodectoma 12.1
20 glomangiosarcoma 12.0
21 glomangioma 11.9
22 glomuvenous malformations 11.7
23 paragangliomas 4 11.5
24 6-phosphogluconolactonase deficiency 11.5
25 paragangliomas 2 11.4
26 paragangliomas 3 11.4
27 tritanopia 11.4
28 carotid body cancer 11.3
29 glomangiomatosis 11.2
30 misophonia 11.2
31 nonsyndromic paraganglioma 11.1
32 anxiety 10.8
33 depression 10.6
34 panic disorder 10.6
35 obsessive-compulsive disorder 10.5
36 eating disorder 10.4
37 agoraphobia 10.4
38 chronic fatigue syndrome 10.3
39 adrenal gland pheochromocytoma 10.3
40 bulimia nervosa 10.3
41 generalized anxiety disorder 10.3
42 social phobia 10.3
43 autism spectrum disorder 10.2
44 hemangiopericytoma, malignant 10.2
45 disease of mental health 10.2
46 neurofibromatosis, type i 10.2
47 acoustic neuroma 10.2
48 intracranial hypertension 10.2
49 major depressive disorder 10.2
50 mental depression 10.2

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:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 extraadrenal pheochromocytoma 33 very rare (1%) HP:0006737
2 adrenal pheochromocytoma 33 very rare (1%) HP:0006748
3 hyperhidrosis 33 HP:0000975
4 cranial nerve paralysis 33 HP:0006824
5 vocal cord paralysis 33 HP:0001605
6 conductive hearing impairment 33 HP:0000405
7 hoarse voice 33 HP:0001609
8 tachycardia 33 HP:0001649
9 palpitations 33 HP:0001962
10 recurrent paroxysmal headache 33 HP:0002331
11 episodic paroxysmal anxiety 33 HP:0000740
12 hypertension associated with pheochromocytoma 33 HP:0002640
13 pulsatile tinnitus 33 HP:0008629
14 loss of voice 33 HP:0001686
15 glomus jugular tumor 33 HP:0003001
16 chemodectoma 33 HP:0030074
17 vagal paraganglioma 33 HP:0002886
18 elevated circulating catecholamine level 33 HP:0003334
19 glomus tympanicum paraganglioma 33 HP:0006715

Symptoms via clinical synopsis from OMIM:

58
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
Voice:
hoarse voice (caused by tumor impingement)
loss of voice

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)

Laboratory Abnormalities:
elevated catecholamines (in patients with pheochromocytoma)

Clinical features from OMIM:

168000

UMLS symptoms related to Paragangliomas 1:


aphonia

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.17 SDHC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.17 SDHC SDHD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.17 SDHC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.17 SDHC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.17 SDHC SDHD
6 Increased mitotic index GR00110-A-0 8.96 RET SDHD

Drugs & Therapeutics for Paragangliomas 1

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

(show top 50) (show all 144)
# 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 Adrenergic alpha-1 Receptor Antagonists Phase 4,Phase 3
6 Antihypertensive Agents Phase 4,Phase 3
7 Adrenergic alpha-Antagonists Phase 4,Phase 3
8 Vasodilator Agents Phase 4,Phase 3
9 Adrenergic Antagonists Phase 4,Phase 3
10
Somatostatin Approved, Investigational Phase 2, Phase 3,Phase 1 38916-34-6, 51110-01-1 53481605
11
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
12
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
13
Lenograstim Approved, Investigational Phase 3 135968-09-1
14
Mechlorethamine Approved, Investigational Phase 3,Phase 2 51-75-2 4033
15
Rifampicin Approved Phase 3 13292-46-1 5381226 5458213
16
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
17
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
18
Doxil Approved June 1999 Phase 3,Phase 2 31703
19 3-Iodobenzylguanidine Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
20 Radiopharmaceuticals Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
21
Isophosphamide mustard Phase 3,Phase 2 0
22 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
23 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
24 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
25 Alkylating Agents Phase 3,Phase 2,Phase 1
26 Topoisomerase Inhibitors Phase 3,Phase 2
27 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Nucleic Acid Synthesis Inhibitors Phase 3
29 Cytochrome P-450 CYP3A Inducers Phase 3
30 Antitubercular Agents Phase 3
31
Epinephrine Approved, Vet_approved Phase 2,Not Applicable 51-43-4 5816
32
Racepinephrine Approved Phase 2,Not Applicable 329-65-7 838
33
Iodine Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 7553-56-2 807
34
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 5284616 6436030
35
Everolimus Approved Phase 2,Phase 1 159351-69-6 70789204 6442177
36
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
37
Octreotide Approved, Investigational Phase 1, Phase 2,Phase 2 83150-76-9 6400441 383414
38
Carbidopa Approved Phase 2 28860-95-9 34359
39
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
40
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
41
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
42
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
43
Sodium Citrate Approved, Investigational Phase 2 68-04-2
44
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
45
Tamoxifen Approved Phase 2 10540-29-1 2733526
46
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
47
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
48
Lenvatinib Approved, Investigational Phase 2 417716-92-8
49
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
50
Ipilimumab Approved Phase 2 477202-00-9

Interventional clinical trials:

(show top 50) (show all 84)
# 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 Recruiting NCT03662022 Phase 3 Rifampicin
11 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Active, not recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
12 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
13 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
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 Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Pheochromocytoma/Paraganglioma Recruiting NCT03839498 Phase 2 Axitinib
24 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
25 Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib
26 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2 Lenvatinib
27 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
28 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)
29 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
30 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
31 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
32 Pembrolizumab in Treating Patients With Rare Tumors That Cannot Be Removed by Surgery or Are Metastatic Recruiting NCT02721732 Phase 2
33 Study of CB-103 in Adult Patients With Advanced or Metastatic Solid Tumours and Haematological Malignancies Recruiting NCT03422679 Phase 1, Phase 2 CB-103
34 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
35 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)
36 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
37 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2 Dovitinib
38 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
39 LAnreotide in Metastatic Pheochromocytoma / PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
40 Dosimetry Guided PRRT With 177Lu-DOTATATE in Children Not yet recruiting NCT03923257 Phase 1, Phase 2 177Lu-DOTA-tyr3-OCTREOTATE
41 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
42 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
43 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
44 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
45 Cixutumumab, Everolimus, and Octreotide Acetate in Treating Patients With Advanced Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT01204476 Phase 1 Everolimus;Octreotide Acetate
46 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
47 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib
48 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
49 Diagnosis of Pheochromocytoma Recruiting NCT00004847 Phase 1 Fluorodopamine;F-18 Fluorodopa
50 Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer Terminated NCT00002947 Phase 1

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 30 SDHD

Anatomical Context for Paragangliomas 1

MalaCards organs/tissues related to Paragangliomas 1:

42
Bone, Thyroid, Testes, Skin, Endothelial, Brain, Spinal Cord

Publications for Paragangliomas 1

Articles related to Paragangliomas 1:

(show top 50) (show all 167)
# Title Authors Year
1
Microsurgical Resection of Glomus Jugulare Tumors With Facial Nerve Reconstruction: 3-Dimensional Operative Video. ( 29741741 )
2019
2
Response To Letter To The Editor "Outcomes of Primary Radiosurgery Treatment of Glomus Jugulare Tumors"-Are Outcomes of Radiosurgery for Tympanojugular Paragangliomas Overestimated? ( 31033932 )
2019
3
Response to Letter to the Editor "Outcomes of Primary Radiosurgery Treatment of Glomus Jugulare Tumors"-Are Outcomes of Radiosurgery for Tympanojugular Paragangliomas Overestimated? ( 31083103 )
2019
4
Long-Term Outcome Following Stereotactic Radiosurgery for Glomus Jugulare Tumors: A Single Institution Experience of 20 Years. ( 29228343 )
2018
5
Long-term outcomes after radiosurgery for glomus jugulare tumors. ( 29714667 )
2018
6
Outcomes of Primary Radiosurgery Treatment of Glomus Jugulare Tumors: Systematic Review With Meta-analysis. ( 30124618 )
2018
7
Gamma Knife radiosurgery for glomus jugulare tumors: a single-center series of 75 cases. ( 27392265 )
2017
8
Stereotactic Radiosurgical Treatment of Glomus Jugulare Tumors. ( 28121969 )
2017
9
Endovascular Approach to Glomus Jugulare Tumors. ( 28685005 )
2017
10
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
11
Treatment Outcomes for Single Modality Management of Glomus Jugulare Tumors With Stereotactic Radiosurgery. ( 27466892 )
2016
12
Current perspectives in the management of glomus jugulare tumors. ( 25751475 )
2015
13
Stereotactic radiosurgery of glomus jugulare tumors: current concepts, recent advances and future perspectives. ( 25768334 )
2015
14
Stereotactic LINAC-Radiosurgery for Glomus Jugulare Tumors: A Long-Term Follow-Up of 27 Patients. ( 26069957 )
2015
15
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
16
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ( 25394175 )
2015
17
Incidence of cranial nerve palsy after preoperative embolization of glomus jugulare tumors using Onyx. ( 24313612 )
2014
18
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. ( 24893135 )
2014
19
Evaluation of linear accelerator-based stereotactic radiosurgery in the management of glomus jugulare tumors. ( 24852863 )
2014
20
Hypoglossal canal invasion by glomus jugulare tumors: clinico-radiological correlation. ( 25043533 )
2014
21
Perioperative management of catecholamine-secreting glomus jugulare tumors. ( 25083379 )
2014
22
Robotic stereotactic radiosurgery in patients with unresectable glomus jugulare tumors. ( 22974334 )
2013
23
Less invasive transjugular approach with Fallopian bridge technique for facial nerve protection and hearing preservation in surgery of glomus jugulare tumors. ( 23739840 )
2013
24
Stereotactic radiosurgery for the treatment of Glomus Jugulare Tumors. ( 24349866 )
2013
25
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
26
Canadian guideline on genetic screening for hereditary renal cell cancers. ( 24319509 )
2013
27
Surgical management of giant transdural glomus jugulare tumors with cerebellar and brainstem compression. ( 23730549 )
2012
28
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. ( 21348866 )
2012
29
A meta-analysis of tumor control rates and treatment-related morbidity for patients with glomus jugulare tumors. ( 21029039 )
2011
30
Radiosurgery of glomus jugulare tumors: a meta-analysis. ( 21703782 )
2011
31
Preoperative embolization of the inferior petrosal sinus in surgery for glomus jugulare tumors. ( 22072258 )
2011
32
Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. ( 20816580 )
2010
33
Surgical management of glomus jugulare tumors: a proposal for approach selection based on tumor relationships with the facial nerve. ( 19425885 )
2010
34
Gamma knife radiosurgery for the treatment of glomus jugulare tumors. ( 19707722 )
2010
35
Treatment of glomus jugulare tumors with gamma knife radiosurgery. ( 20623790 )
2010
36
Linac-based stereotactic body radiation therapy for treatment of glomus jugulare tumors. ( 20950881 )
2010
37
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. ( 20065170 )
2010
38
Staged Gamma Knife radiosurgery after tailored surgical resection: a novel treatment paradigm for glomus jugulare tumors. ( 19174618 )
2009
39
Treatment of recurrent and residual glomus jugulare tumors. ( 19568346 )
2009
40
Radiosurgery for glomus jugulare tumors. ( 19751873 )
2009
41
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. ( 18211978 )
2008
42
Gamma knife radiosurgery for glomus jugulare tumors: therapeutic advantages of minimalism in the skull base. ( 18310839 )
2008
43
Facial paralysis associated with glomus jugulare tumors. ( 17195751 )
2007
44
Radiosurgery for glomus jugulare tumors. ( 17877430 )
2007
45
Fractionated stereotactic radiotherapy of glomus jugulare tumors. Local control, toxicity, symptomatology, and quality of life. ( 17896087 )
2007
46
Irradiation of glomus jugulare tumors: a historical perspective. ( 18081478 )
2007
47
The combined transmastoid retro- and infralabyrinthine transjugular transcondylar transtubercular high cervical approach for resection of glomus jugulare tumors. ( 18162872 )
2007
48
Short-term tumor control and acute toxicity after stereotactic radiosurgery for glomus jugulare tumors. ( 16500441 )
2006
49
The combined transmastoid retro- and infralabyrinthine transjugular transcondylar transtubercular high cervical approach for resection of glomus jugulare tumors. ( 16888541 )
2006
50
Glomus jugulare tumors: the option of gamma knife radiosurgery. ( 16955038 )
2006

Variations for Paragangliomas 1

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

76
# 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

ClinVar genetic disease variations for Paragangliomas 1:

6 (show top 50) (show all 326)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHD NM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs) insertion Pathogenic rs587776645 GRCh37 Chromosome 11, 111965551: 111965552
2 SDHD NM_003002.3(SDHD): c.277_279del (p.Tyr93del) deletion Pathogenic rs121908983 GRCh37 Chromosome 11, 111959698: 111959700
3 SDHD NM_003002.3(SDHD): c.277_279del (p.Tyr93del) deletion Pathogenic rs121908983 GRCh38 Chromosome 11, 112088974: 112088976
4 SDHD NM_003002.3(SDHD): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs104894303 GRCh37 Chromosome 11, 111958634: 111958634
5 SDHD NM_003002.3(SDHD): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs104894303 GRCh38 Chromosome 11, 112087910: 112087910
6 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
7 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916
8 SDHD NM_003002.3(SDHD): c.52+2T> G single nucleotide variant Pathogenic rs587776644 GRCh38 Chromosome 11, 112086961: 112086961
9 SDHD NM_003002.3(SDHD): c.52+2T> G single nucleotide variant Pathogenic rs587776644 GRCh37 Chromosome 11, 111957685: 111957685
10 SDHD NM_003002.3(SDHD): c.34G> A (p.Gly12Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34677591 GRCh37 Chromosome 11, 111957665: 111957665
11 SDHD NM_003002.3(SDHD): c.34G> A (p.Gly12Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34677591 GRCh38 Chromosome 11, 112086941: 112086941
12 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
13 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939
14 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
15 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh38 Chromosome 11, 112088971: 112088971
16 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
17 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh38 Chromosome 11, 112089002: 112089002
18 SDHD NM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs) insertion Pathogenic rs587776645 GRCh38 Chromosome 11, 112094827: 112094828
19 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555
20 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh38 Chromosome 11, 112094831: 112094831
21 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh37 Chromosome 11, 111958623: 111958623
22 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh38 Chromosome 11, 112087899: 112087899
23 SDHD NM_003002.3(SDHD): c.443delG (p.Gly148Alafs) deletion Pathogenic rs587776646 GRCh38 Chromosome 11, 112094933: 112094933
24 SDHD NM_003002.3(SDHD): c.443delG (p.Gly148Alafs) deletion Pathogenic rs587776646 GRCh37 Chromosome 11, 111965657: 111965657
25 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
26 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh38 Chromosome 11, 112087868: 112087868
27 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh37 Chromosome 11, 111959612: 111959613
28 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh38 Chromosome 11, 112088888: 112088889
29 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh37 Chromosome 11, 111957634: 111957634
30 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh38 Chromosome 11, 112086910: 112086910
31 SDHD NM_003002.3(SDHD): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh37 Chromosome 11, 111965630: 111965630
32 SDHD NM_003002.3(SDHD): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh38 Chromosome 11, 112094906: 112094906
33 SDHD NM_003002.2(SDHD): c.94_95delTC (p.Ala33Ilefs) deletion Pathogenic rs397514034 GRCh37 Chromosome 11, 111958622: 111958623
34 SDHD NM_003002.2(SDHD): c.94_95delTC (p.Ala33Ilefs) deletion Pathogenic rs397514034 GRCh38 Chromosome 11, 112087898: 112087899
35 SDHD NM_003002.3(SDHD): c.149A> G (p.His50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11214077 GRCh37 Chromosome 11, 111958677: 111958677
36 SDHD NM_003002.3(SDHD): c.149A> G (p.His50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11214077 GRCh38 Chromosome 11, 112087953: 112087953
37 SDHD NM_003002.3(SDHD): c.463delA (p.Met155Cysfs) deletion Pathogenic rs587776647 GRCh38 Chromosome 11, 112094953: 112094953
38 SDHD NM_003002.3(SDHD): c.463delA (p.Met155Cysfs) deletion Pathogenic rs587776647 GRCh37 Chromosome 11, 111965677: 111965677
39 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632
40 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh38 Chromosome 11, 112086908: 112086908
41 SDHD NM_003002.2(SDHD): c.337_340delGACT (p.Asp113Metfs) deletion Pathogenic rs587776648 GRCh38 Chromosome 11, 112094827: 112094830
42 SDHD NM_003002.2(SDHD): c.337_340delGACT (p.Asp113Metfs) deletion Pathogenic rs587776648 GRCh37 Chromosome 11, 111965551: 111965554
43 SDHD NM_003002.4(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
44 SDHD NM_003002.4(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh38 Chromosome 11, 112087933: 112087933
45 SDHD SDHD, 96-KB DEL deletion Pathogenic
46 SDHD NM_003002.3(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 GRCh37 Chromosome 11, 111957664: 111957664
47 SDHD NM_003002.3(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 GRCh38 Chromosome 11, 112086940: 112086940
48 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
49 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh37 Chromosome 11, 111958585: 111958585
50 SDHD NM_003002.3(SDHD): c.433C> A (p.His145Asn) single nucleotide variant Uncertain significance rs121908984 GRCh37 Chromosome 11, 111965647: 111965647

Cosmic variations for Paragangliomas 1:

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,carotid body,paraganglioma,benign c.482G>A p.R161Q 3:10149805-10149805 0

Expression for Paragangliomas 1

Search GEO for disease gene expression data for Paragangliomas 1.

Pathways for Paragangliomas 1

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 SDHB SDHC SDHD TIMM8B
2 mitochondrial inner membrane GO:0005743 9.46 SDHB SDHC SDHD TIMM8B
3 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

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 9.5 SDHB SDHC SDHD
2 electron transport chain GO:0022900 9.26 SDHB SDHC
3 aerobic respiration GO:0009060 9.16 SDHB SDHC
4 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.96 SDHC SDHD
5 tricarboxylic acid cycle GO:0006099 8.8 SDHB SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.33 SDHB SDHC SDHD
2 heme binding GO:0020037 9.26 SDHC SDHD
3 ubiquinone binding GO:0048039 8.96 SDHB SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHB SDHC SDHD

Sources for Paragangliomas 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....