PGL1
MCID: PRG018
MIFTS: 55

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 53 75 29 6
Glomus Jugulare Tumors 57 53 75
Carotid Body Tumors 57 53 75
Paragangliomata 57 53 75
Chemodectomas 57 53 75
Pgl 57 53 75
Paragangliomas 1, with or Without Deafness 57 13
Carotid Body Paraganglioma 53 73
Paragangliomas Familial 1 53 75
Glomus Tumors Familial 1 53 75
Carotid Body Tumor 53 55
Glomus Tumor 53 73
Pgl1 57 75
Cbt1 57 75
Familial Paragangliomas Non-Chromaffin 1 with or Without Deafness 75
Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 53
Paragangliomas, Familial Nonchromaffin, 1 57
Familial Non-Chromaffin Paragangliomas 1 75
Paraganglioma - Glomus Jugulare 53
Paragangliomas, Familial, 1 57
Paraganglioma, Carotid Body 57
Extra-Adrenal Paraganglioma 73
Glomus Tumors, Familial, 1 57
Paraganglioma Carotid Body 75
Carotid Body Tumors; Cbt1 57
Glomus Tympanicum Tumor 73
Paragangliomas, Type 1 40
Glomus Jugulare Tumor 73
Paragangliomata; Pgl 57
Glomus Jugular Tumor 29
Paraganglioma 73
Pgl 1 53
Cbt 53

Characteristics:

OMIM:

57
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:

32
paragangliomas 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


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)

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, skin and brain, and related phenotypes are hyperhidrosis and cranial nerve paralysis

NIH Rare Diseases : 53 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 : 75 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 226)
# Related Disease Score Top Affiliating Genes
1 persistent generalized lymphadenopathy 32.6 SDHD SDHC SDHB
2 hereditary paraganglioma-pheochromocytoma syndromes 30.7 TIMM8B SDHD SDHC SDHB RET
3 glomus tumor 30.1 SDHD SDHB
4 ganglioneuroma 29.6 RET CHGA
5 chondroma 29.6 SDHD SDHC SDHB
6 hemangioma 29.6 RET CHGA
7 hyperparathyroidism 29.6 RET CHGA
8 parathyroid adenoma 29.5 RET CHGA
9 gastrointestinal stromal tumor 29.4 SDHD SDHC SDHB CHGA
10 paraganglioma 29.2 SDHD SDHC SDHB RET CHGA
11 pheochromocytoma 29.2 TIMM8B SDHD SDHC SDHB RET CHGA
12 multiple endocrine neoplasia 29.0 SDHC SDHB RET CHGA
13 von hippel-lindau syndrome 29.0 SDHD SDHC SDHB RET CHGA
14 subungual glomus tumor 12.4
15 abdominal chemodectomas with cutaneous angiolipomas 12.3
16 skin glomus tumor 12.2
17 chemodectoma, intraabdominal, with cutaneous angiolipomas 12.0
18 non-secreting chemodectoma 12.0
19 glomangiosarcoma 11.9
20 glomangioma 11.8
21 glomuvenous malformations 11.7
22 paragangliomas 4 11.4
23 6-phosphogluconolactonase deficiency 11.4
24 paragangliomas 2 11.4
25 paragangliomas 3 11.4
26 tritanopia 11.3
27 carotid body cancer 11.3
28 misophonia 11.1
29 nonsyndromic paraganglioma 11.0
30 anxiety 10.7
31 panic disorder 10.5
32 depression 10.5
33 obsessive-compulsive disorder 10.4
34 agoraphobia 10.4
35 eating disorder 10.3
36 chronic fatigue syndrome 10.3
37 bulimia nervosa 10.2
38 social phobia 10.2
39 generalized anxiety disorder 10.2
40 autism spectrum disorder 10.1
41 neurofibromatosis, type i 10.1
42 syncope 10.1
43 lymphoma 10.1
44 indeterminate leprosy 10.1
45 fibromyalgia 10.1
46 conn's syndrome 10.0
47 carcinoid tumors, intestinal 10.0 SDHD CHGA
48 blastomycosis 10.0
49 acoustic neuroma 10.0
50 facial paralysis 10.0

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



Diseases related to Paragangliomas 1

Symptoms & Phenotypes for Paragangliomas 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Paragangliomas 1:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 cranial nerve paralysis 32 HP:0006824
3 vocal cord paralysis 32 HP:0001605
4 conductive hearing impairment 32 HP:0000405
5 hoarse voice 32 HP:0001609
6 tachycardia 32 HP:0001649
7 recurrent paroxysmal headache 32 HP:0002331
8 palpitations 32 HP:0001962
9 extraadrenal pheochromocytoma 32 very rare (1%) HP:0006737
10 adrenal pheochromocytoma 32 very rare (1%) HP:0006748
11 episodic paroxysmal anxiety 32 HP:0000740
12 hypertension associated with pheochromocytoma 32 HP:0002640
13 pulsatile tinnitus 32 HP:0008629
14 loss of voice 32 HP:0001686
15 glomus jugular tumor 32 HP:0003001
16 chemodectoma 32 HP:0030074
17 vagal paraganglioma 32 HP:0002886
18 elevated circulating catecholamine level 32 HP:0003334
19 glomus tympanicum paraganglioma 32 HP:0006715

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

Interventional clinical trials:

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

Search NIH Clinical Center for Paragangliomas 1

Genetic Tests for Paragangliomas 1

Genetic tests related to Paragangliomas 1:

# Genetic test Affiliating Genes
1 Paragangliomas 1 29 SDHD
2 Glomus Jugular Tumor 29

Anatomical Context for Paragangliomas 1

MalaCards organs/tissues related to Paragangliomas 1:

41
Bone, Skin, Brain, Heart, Lymph Node, Ovary, Thyroid

Publications for Paragangliomas 1

Articles related to Paragangliomas 1:

(show top 50) (show all 140)
# Title Authors Year
1
Long-Term Outcome Following Stereotactic Radiosurgery for Glomus Jugulare Tumors: A Single Institution Experience of 20 Years. ( 29228343 )
2018
2
Long-term outcomes after radiosurgery for glomus jugulare tumors. ( 29714667 )
2018
3
Microsurgical Resection of Glomus Jugulare Tumors With Facial Nerve Reconstruction: 3-Dimensional Operative Video. ( 29741741 )
2018
4
Outcomes of Primary Radiosurgery Treatment of Glomus Jugulare Tumors: Systematic Review With Meta-analysis. ( 30124618 )
2018
5
Gamma Knife radiosurgery for glomus jugulare tumors: a single-center series of 75 cases. ( 27392265 )
2017
6
Stereotactic Radiosurgical Treatment of Glomus Jugulare Tumors. ( 28121969 )
2017
7
Endovascular Approach to Glomus Jugulare Tumors. ( 28685005 )
2017
8
Treatment Outcomes for Single Modality Management of Glomus Jugulare Tumors With Stereotactic Radiosurgery. ( 27466892 )
2016
9
Stereotactic radiosurgery of glomus jugulare tumors: current concepts, recent advances and future perspectives. ( 25768334 )
2015
10
Current perspectives in the management of glomus jugulare tumors. ( 25751475 )
2015
11
Stereotactic LINAC-Radiosurgery for Glomus Jugulare Tumors: A Long-Term Follow-Up of 27 Patients. ( 26069957 )
2015
12
Hypoglossal canal invasion by glomus jugulare tumors: clinico-radiological correlation. ( 25043533 )
2014
13
Perioperative management of catecholamine-secreting glomus jugulare tumors. ( 25083379 )
2014
14
Evaluation of linear accelerator-based stereotactic radiosurgery in the management of glomus jugulare tumors. ( 24852863 )
2014
15
Stereotactic radiosurgery for the treatment of Glomus Jugulare Tumors. ( 24349866 )
2013
16
Incidence of cranial nerve palsy after preoperative embolization of glomus jugulare tumors using Onyx. ( 24313612 )
2013
17
Robotic stereotactic radiosurgery in patients with unresectable glomus jugulare tumors. ( 22974334 )
2013
18
Less invasive transjugular approach with Fallopian bridge technique for facial nerve protection and hearing preservation in surgery of glomus jugulare tumors. ( 23739840 )
2013
19
Surgical management of giant transdural glomus jugulare tumors with cerebellar and brainstem compression. ( 23730549 )
2012
20
Radiosurgery of glomus jugulare tumors: a meta-analysis. ( 21703782 )
2011
21
Preoperative embolization of the inferior petrosal sinus in surgery for glomus jugulare tumors. ( 22072258 )
2011
22
A meta-analysis of tumor control rates and treatment-related morbidity for patients with glomus jugulare tumors. ( 21029039 )
2011
23
Linac-based stereotactic body radiation therapy for treatment of glomus jugulare tumors. ( 20950881 )
2010
24
Surgical management of glomus jugulare tumors: a proposal for approach selection based on tumor relationships with the facial nerve. ( 19425885 )
2010
25
Treatment of glomus jugulare tumors with gamma knife radiosurgery. ( 20623790 )
2010
26
Gamma knife radiosurgery for the treatment of glomus jugulare tumors. ( 19707722 )
2010
27
Radiosurgery for glomus jugulare tumors. ( 19751873 )
2009
28
Treatment of recurrent and residual glomus jugulare tumors. ( 19568346 )
2009
29
Staged Gamma Knife radiosurgery after tailored surgical resection: a novel treatment paradigm for glomus jugulare tumors. ( 19174618 )
2009
30
Gamma knife radiosurgery for glomus jugulare tumors: therapeutic advantages of minimalism in the skull base. ( 18310839 )
2008
31
Fractionated stereotactic radiotherapy of glomus jugulare tumors. Local control, toxicity, symptomatology, and quality of life. ( 17896087 )
2007
32
The combined transmastoid retro- and infralabyrinthine transjugular transcondylar transtubercular high cervical approach for resection of glomus jugulare tumors. ( 18162872 )
2007
33
Facial paralysis associated with glomus jugulare tumors. ( 17195751 )
2007
34
Radiosurgery for glomus jugulare tumors. ( 17877430 )
2007
35
Irradiation of glomus jugulare tumors: a historical perspective. ( 18081478 )
2007
36
Intracranial glomus jugulare tumors: volume reduction with Gamma Knife surgery. ( 18503351 )
2006
37
Radiosurgery for glomus jugulare tumors: experience treating 16 patients in Iran. ( 18503352 )
2006
38
Short-term tumor control and acute toxicity after stereotactic radiosurgery for glomus jugulare tumors. ( 16500441 )
2006
39
Gamma knife radiosurgery for glomus jugulare tumors: volumetric analysis in 17 patients. ( 17143237 )
2006
40
The combined transmastoid retro- and infralabyrinthine transjugular transcondylar transtubercular high cervical approach for resection of glomus jugulare tumors. ( 16888541 )
2006
41
Glomus jugulare tumors: the option of gamma knife radiosurgery. ( 16955038 )
2006
42
Gamma knife surgery for glomus jugulare tumors: an intermediate report on efficacy and safety. ( 15662818 )
2005
43
Treatment of glomus jugulare tumors in patients with advanced age: planned limited surgical resection followed by staged gamma knife radiosurgery: a preliminary report. ( 16272947 )
2005
44
Glomus jugulare tumors with intracranial extension. ( 15329022 )
2004
45
Efficacy and safety of stereotactic radiosurgery for glomus jugulare tumors. ( 15329026 )
2004
46
Surgical treatment of glomus jugulare tumors without rerouting of the facial nerve: an infralabyrinthine approach. ( 15329023 )
2004
47
The basic science of glomus jugulare tumors. ( 15329017 )
2004
48
Glomus jugulare tumors: historical overview of the management of this disease. ( 15329016 )
2004
49
Comparison of radiosurgery and conventional surgery for the treatment of glomus jugulare tumors. ( 15329019 )
2004
50
Stereotactic radiosurgery in patients with glomus jugulare tumors. ( 15329025 )
2004

Variations for Paragangliomas 1

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

75
# 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 325)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHD NM_003002.3(SDHD): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs104894303 GRCh37 Chromosome 11, 111958634: 111958634
2 SDHD NM_003002.3(SDHD): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs104894303 GRCh38 Chromosome 11, 112087910: 112087910
3 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
4 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916
5 SDHD NM_003002.3(SDHD): c.52+2T> G single nucleotide variant Pathogenic rs587776644 GRCh38 Chromosome 11, 112086961: 112086961
6 SDHD NM_003002.3(SDHD): c.52+2T> G single nucleotide variant Pathogenic rs587776644 GRCh37 Chromosome 11, 111957685: 111957685
7 SDHD NM_003002.3(SDHD): c.34G> A (p.Gly12Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34677591 GRCh37 Chromosome 11, 111957665: 111957665
8 SDHD NM_003002.3(SDHD): c.34G> A (p.Gly12Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34677591 GRCh38 Chromosome 11, 112086941: 112086941
9 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
10 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939
11 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
12 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh38 Chromosome 11, 112088971: 112088971
13 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
14 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh38 Chromosome 11, 112089002: 112089002
15 SDHD NM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs) insertion Pathogenic rs587776645 GRCh38 Chromosome 11, 112094827: 112094828
16 SDHD NM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs) insertion Pathogenic rs587776645 GRCh37 Chromosome 11, 111965551: 111965552
17 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555
18 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh38 Chromosome 11, 112094831: 112094831
19 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh37 Chromosome 11, 111958623: 111958623
20 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh38 Chromosome 11, 112087899: 112087899
21 SDHD NM_003002.3(SDHD): c.443delG (p.Gly148Alafs) deletion Pathogenic rs587776646 GRCh38 Chromosome 11, 112094933: 112094933
22 SDHD NM_003002.3(SDHD): c.443delG (p.Gly148Alafs) deletion Pathogenic rs587776646 GRCh37 Chromosome 11, 111965657: 111965657
23 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
24 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh38 Chromosome 11, 112087868: 112087868
25 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh37 Chromosome 11, 111959612: 111959613
26 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh38 Chromosome 11, 112088888: 112088889
27 SDHD NM_003002.3(SDHD): c.277_279delTAT (p.Tyr93del) deletion Pathogenic rs121908983 GRCh37 Chromosome 11, 111959698: 111959700
28 SDHD NM_003002.3(SDHD): c.277_279delTAT (p.Tyr93del) deletion Pathogenic rs121908983 GRCh38 Chromosome 11, 112088974: 112088976
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_003002.3(SDHD): c.94_95delTC (p.Ala33Ilefs) deletion Pathogenic rs397514034 GRCh37 Chromosome 11, 111958622: 111958623
34 SDHD NM_003002.3(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_003002.3(SDHD): c.337_340delGACT (p.Asp113Metfs) deletion Pathogenic rs587776648 GRCh38 Chromosome 11, 112094827: 112094830
42 SDHD NM_003002.3(SDHD): c.337_340delGACT (p.Asp113Metfs) deletion Pathogenic rs587776648 GRCh37 Chromosome 11, 111965551: 111965554
43 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
44 SDHD NM_003002.3(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 29

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 9.13 SDHB SDHC 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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51 NDF-RT
54 NINDS
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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