PGL4
MCID: PRG021
MIFTS: 31

Paragangliomas 4 (PGL4) malady

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

Aliases & Classifications for Paragangliomas 4

Aliases & Descriptions for Paragangliomas 4:

Name: Paragangliomas 4 54 50 24 66 29 13 69
Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 50 24
Pgl4 50 66
Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas 66
Pheochromocytoma, Extraadrenal and Cervical Paraganglioma 50
Pheochromocytoma Extraadrenal and Cervical Paraganglioma 66
Paragangliomas, Hereditary Extraadrenal 50
Pheochromocytoma, Familial Extraadrenal 50
Paragangliomas Hereditary Extraadrenal 66
Pheochromocytoma Familial Extraadrenal 66
Familial Chromaffin Paraganglioma 4 66
Paraganglioma, Familial Malignant 50
Paraganglioma Familial Malignant 66

Characteristics:

HPO:

32
paragangliomas 4:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

OMIM 54 115310
MedGen 40 C1861848
MeSH 42 D010235

Summaries for Paragangliomas 4

UniProtKB/Swiss-Prot : 66 Paragangliomas 4: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.

MalaCards based summary : Paragangliomas 4, also known as sdhb-related hereditary paraganglioma-pheochromocytoma syndrome, is related to hereditary paraganglioma-pheochromocytoma syndromes and neuroblastoma, and has symptoms including recurrent paroxysmal headache, hyperhidrosis and renal cell carcinoma. An important gene associated with Paragangliomas 4 is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B). The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder.

Description from OMIM: 115310

Related Diseases for Paragangliomas 4

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 3
Paragangliomas 5 Paragangliomas 2
Nonsyndromic Paraganglioma

Diseases related to Paragangliomas 4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 11.0
2 neuroblastoma 10.8
3 paragangliomas 1, with or without deafness 10.8

Symptoms & Phenotypes for Paragangliomas 4

Symptoms by clinical synopsis from OMIM:

115310

Clinical features from OMIM:

115310

Human phenotypes related to Paragangliomas 4:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 recurrent paroxysmal headache 32 HP:0002331
2 hyperhidrosis 32 HP:0000975
3 renal cell carcinoma 32 HP:0005584
4 neuroblastoma 32 HP:0003006
5 tachycardia 32 HP:0001649
6 gastrointestinal stroma tumor 32 HP:0100723
7 palpitations 32 HP:0001962
8 episodic paroxysmal anxiety 32 HP:0000740
9 hypertension associated with pheochromocytoma 32 HP:0002640
10 glomus jugular tumor 32 HP:0003001
11 extraadrenal pheochromocytoma 32 HP:0006737
12 adrenal pheochromocytoma 32 HP:0006748
13 pulsatile tinnitus 32 HP:0008629
14 chemodectoma 32 HP:0030074

Drugs & Therapeutics for Paragangliomas 4

Drugs for Paragangliomas 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 88)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4 59-96-1 4768
3 Adrenergic Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Adrenergic Antagonists Phase 4
6 Adrenergic alpha-1 Receptor Antagonists Phase 4
7 Adrenergic alpha-Antagonists Phase 4
8 Vasodilator Agents Phase 4
9 Antihypertensive Agents Phase 4
10
Somatostatin Approved Phase 2, Phase 3,Phase 1 38916-34-6, 51110-01-1 53481605
11 Hormone Antagonists Phase 2, Phase 3
12 Hormones Phase 2, Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
14
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
15
Everolimus Approved Phase 2 159351-69-6 6442177
16
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
17
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
18
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
19
Carbidopa Approved Phase 2 28860-95-9 34359 38101
20
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
21
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
22
Lenvatinib Approved Phase 2 417716-92-8
23
nivolumab Approved Phase 2 946414-94-4
24
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
25
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
26
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
27 Anti-Bacterial Agents Phase 2
28 Anti-Infective Agents Phase 2
29 Immunosuppressive Agents Phase 2
30 Protein Kinase Inhibitors Phase 2
31 Antifungal Agents Phase 2
32 Antibiotics, Antitubercular Phase 2
33 Prednisolone acetate Phase 2
34 alpha-methyltyrosine Phase 2
35 Angiogenesis Inhibitors Phase 2
36 Angiogenesis Modulating Agents Phase 2
37 Epinephryl borate Phase 2
38 Prednisolone hemisuccinate Phase 2
39 3-Iodobenzylguanidine Phase 2,Phase 1
40 Prednisolone phosphate Phase 2
41 Racepinephrine Phase 2
42 Liver Extracts Phase 2
43 Radiopharmaceuticals Phase 2,Phase 1
44 Methylprednisolone acetate Phase 2
45 Methylprednisolone Hemisuccinate Phase 2
46
Iodine Phase 2,Phase 1 7553-56-2 807
47 cadexomer iodine Phase 2,Phase 1
48 Immunoglobulins Phase 2
49 Antibodies, Monoclonal Phase 2
50 Antibodies Phase 2

Interventional clinical trials:

(show all 26)
id Name Status NCT ID Phase
1 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 Phase 4
2 Phenoxybenzamine Versus Doxazosin in PCC Patients Recruiting NCT01379898 Phase 4
3 Stereotactic Body Radiotherapy for Head and Neck Tumors Active, not recruiting NCT01344356 Phase 4
4 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3
5 Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3
6 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Unknown status NCT00843531 Phase 2
7 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2
8 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2
9 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
10 131MIBG to Treat Malignant Pheochromocytoma Completed NCT00028106 Phase 2
11 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
12 Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2
13 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
14 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
15 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2
16 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2
17 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
18 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1
19 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
20 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Not yet recruiting NCT02831179 Phase 1
21 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1
22 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
23 Efficacy and Safety of Posterior Retroperitoneoscopic Adrenalectomy: A Comparative Study Completed NCT02618694
24 MIBG for Refractory Neuroblastoma and Pheochromocytoma Recruiting NCT01850888
25 131-I-MIBG Therapy for Refractory Neuroblastoma and Metastatic Paraganglioma/Pheochromocytoma Available NCT01163383
26 Compassionate Use of 131I-MIBG for Patients With Malignant Pheochromocytoma Available NCT01377532

Search NIH Clinical Center for Paragangliomas 4

Genetic Tests for Paragangliomas 4

Genetic tests related to Paragangliomas 4:

id Genetic test Affiliating Genes
1 Paragangliomas 4 29
2 Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 24 SDHB

Anatomical Context for Paragangliomas 4

Publications for Paragangliomas 4

Variations for Paragangliomas 4

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 4:

66
id Symbol AA change Variation ID SNP ID
1 SDHB p.Pro197Arg VAR_017868 rs74315367
2 SDHB p.Arg242His VAR_017869 rs74315368
3 SDHB p.Pro131Arg VAR_018518
4 SDHB p.His132Pro VAR_037621 rs74315372
5 SDHB p.Arg46Gln VAR_054377 rs772551056

ClinVar genetic disease variations for Paragangliomas 4:

6 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
2 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
3 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
4 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh38 Chromosome 1, 17022654: 17022657
5 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
6 SDHB SDHB, 1.0-KB DEL, EX1 deletion Pathogenic
7 SDHB NM_003000.2(SDHB): c.395A> C (p.His132Pro) single nucleotide variant Pathogenic rs74315372 GRCh37 Chromosome 1, 17355123: 17355123
8 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
9 SDHB SDHB, 15.69-KB DEL, EX1 deletion Pathogenic
10 SDHB SDHB, 20.3-KB DEL, EX1 deletion Pathogenic
11 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
12 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
13 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553
14 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
15 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
16 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
17 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh37 Chromosome 1, 17349144: 17349144
18 SDHB NM_003000.2(SDHB): c.689G> T (p.Arg230Leu) single nucleotide variant Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
19 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
20 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138
21 SDHB NM_003000.2(SDHB): c.166_170delCCTCA (p.Pro56Tyrfs) deletion Pathogenic rs786202100 GRCh37 Chromosome 1, 17371286: 17371290
22 SDHB NM_003000.2(SDHB): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs772551056 GRCh37 Chromosome 1, 17371319: 17371319
23 SDHB NM_003000.2(SDHB): c.343C> T (p.Arg115Ter) single nucleotide variant Pathogenic rs751000085 GRCh37 Chromosome 1, 17355175: 17355175
24 SDHB NM_003000.2(SDHB): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs876658461 GRCh37 Chromosome 1, 17350470: 17350470
25 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh37 Chromosome 1, 17350523: 17350523
26 SDHB NM_003000.2(SDHB): c.-151_*159del deletion Pathogenic GRCh38 Chromosome 1, 17018722: 17054170
27 SDHB NM_003000.2(SDHB): c.296G> A (p.Gly99Asp) single nucleotide variant Likely pathogenic rs878854576 GRCh37 Chromosome 1, 17355222: 17355222
28 SDHB NM_003000.2(SDHB): c.271A> T (p.Arg91Ter) single nucleotide variant Pathogenic rs878854575 GRCh37 Chromosome 1, 17359570: 17359570
29 SDHB NM_003000.2(SDHB): c.201-2A> C single nucleotide variant Likely pathogenic rs878854574 GRCh37 Chromosome 1, 17359642: 17359642
30 SDHB NM_003000.2(SDHB): c.126delT (p.Phe42Leufs) deletion Pathogenic rs878854572 GRCh37 Chromosome 1, 17371330: 17371330
31 SDHB NM_003000.2(SDHB): c.201-?_765+?dup duplication Likely pathogenic
32 SDHB NC_000001.11: g.(?_17044761)_(17044888_?)del deletion Pathogenic GRCh37 Chromosome 1, 17371256: 17371383
33 SDHB NM_003000.2(SDHB): c.717dupT (p.Leu240Serfs) duplication Likely pathogenic GRCh38 Chromosome 1, 17022656: 17022656
34 SDHB NM_003000.2(SDHB): c.620_621delTG (p.Leu207Argfs) deletion Pathogenic rs1060503752 GRCh38 Chromosome 1, 17023994: 17023995
35 SDHB NM_003000.2(SDHB): c.591delC (p.Ser198Alafs) deletion Pathogenic rs1060503757 GRCh38 Chromosome 1, 17024024: 17024024
36 SDHB NM_003000.2(SDHB): c.602G> A (p.Trp201Ter) single nucleotide variant Pathogenic rs1060503759 GRCh38 Chromosome 1, 17024013: 17024013
37 SDHB NM_003000.2(SDHB): c.499A> T (p.Lys167Ter) single nucleotide variant Pathogenic rs1060503753 GRCh38 Chromosome 1, 17027790: 17027790
38 SDHB NM_003000.2(SDHB): c.331_332delCT (p.Leu111Serfs) deletion Pathogenic rs1060503751 GRCh38 Chromosome 1, 17028691: 17028692
39 SDHB NM_003000.2(SDHB): c.374C> G (p.Ser125Ter) single nucleotide variant Pathogenic rs786203506 GRCh38 Chromosome 1, 17028649: 17028649
40 SDHB NM_003000.2(SDHB): c.441T> G (p.Tyr147Ter) single nucleotide variant Pathogenic rs1060503763 GRCh38 Chromosome 1, 17027848: 17027848
41 SDHB NM_003000.2(SDHB): c.137G> T (p.Arg46Leu) single nucleotide variant Likely pathogenic rs772551056 GRCh38 Chromosome 1, 17044824: 17044824
42 SDHB NM_003000.2(SDHB): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs1060503762 GRCh38 Chromosome 1, 17044820: 17044820
43 SDHB NM_003000.2(SDHB): c.22_23delTC (p.Ser8Leufs) deletion Pathogenic rs1060503767 GRCh38 Chromosome 1, 17053997: 17053998

Expression for Paragangliomas 4

Search GEO for disease gene expression data for Paragangliomas 4.

Pathways for Paragangliomas 4

GO Terms for Paragangliomas 4

Sources for Paragangliomas 4

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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70 UMLS via Orphanet
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