MCID: PRG019
MIFTS: 33

Paragangliomas 2

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

Aliases & Classifications for Paragangliomas 2

MalaCards integrated aliases for Paragangliomas 2:

Name: Paragangliomas 2 54 50 71 29 13 69
Sdhaf2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 50 24
Pgl2 50 71
Familial Non-Chromaffin Paragangliomas 2 71
Glomus Tumors, Familial, 2 50
Glomus Tumors Familial 2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
cells of origin are part of the diffuse neuroendocrine system (dnes)
see also pgl1
usually asymptomatic
adult onset (wide range of age)


HPO:

32
paragangliomas 2:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 2

UniProtKB/Swiss-Prot : 71 Paragangliomas 2: 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 2, also known as sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome, is related to hereditary paraganglioma-pheochromocytoma syndromes and paraganglioma, and has symptoms including loss of voice, vocal cord paralysis and glomus jugular tumor. An important gene associated with Paragangliomas 2 is SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2). The drugs Somatostatin and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and liver.

Description from OMIM: 601650

Related Diseases for Paragangliomas 2

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 3
Paragangliomas 5 Paragangliomas 2
Nonsyndromic Paraganglioma

Diseases related to Paragangliomas 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 10.8
2 paraganglioma 9.6

Symptoms & Phenotypes for Paragangliomas 2

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
pulsatile tinnitus (tympanic paraganglioma)

Neurologic- Central Nervous System:
cranial nerve palsies can arise with head and neck paragangliomas

Neoplasia:
paragangliomas
multiple tumors
paragangliomas, head and neck
chemodectomas
glomus jugular tumors
more
Respiratory- Larynx:
vocal cord paralysis (caused by tumor impingement)

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


Clinical features from OMIM:

601650

Human phenotypes related to Paragangliomas 2:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 loss of voice 32 HP:0001686
2 vocal cord paralysis 32 HP:0001605
3 glomus jugular tumor 32 HP:0003001
4 chemodectoma 32 HP:0030074
5 vagal paraganglioma 32 HP:0002886
6 glomus tympanicum paraganglioma 32 HP:0006715

UMLS symptoms related to Paragangliomas 2:


aphonia

Drugs & Therapeutics for Paragangliomas 2

Drugs for Paragangliomas 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved Phase 2, Phase 3,Phase 1 38916-34-6, 51110-01-1 53481605
2 Hormone Antagonists Phase 2, Phase 3,Phase 1
3 Hormones Phase 2, Phase 3,Phase 1
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
5
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
6
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
7
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
9 Racepinephrine Approved Phase 2
10
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
11
Carbidopa Approved Phase 2 28860-95-9 34359 38101
12
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
13
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
14
Octreotide Approved, Investigational Phase 2,Phase 1 83150-76-9 383414 6400441
15
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
16
Lenvatinib Approved Phase 2 417716-92-8
17
nivolumab Approved Phase 2 946414-94-4
18
Pembrolizumab Approved Phase 2 1374853-91-4
19
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
20
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
21
Iodine Investigational Phase 1, Phase 2 7553-56-2 807
22 Angiogenesis Inhibitors Phase 2
23 Angiogenesis Modulating Agents Phase 2
24 3-Iodobenzylguanidine Phase 2,Phase 1
25 Radiopharmaceuticals Phase 2,Phase 1
26 Anti-Bacterial Agents Phase 2,Phase 1
27 Antibiotics, Antitubercular Phase 2,Phase 1
28 Antifungal Agents Phase 2,Phase 1
29 Anti-Infective Agents Phase 2,Phase 1
30 Epinephryl borate Phase 2
31 Immunosuppressive Agents Phase 2,Phase 1
32 cadexomer iodine Phase 1, Phase 2
33
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
34 Protein Kinase Inhibitors Phase 2
35 Liver Extracts Phase 2
36 alpha-methyltyrosine Phase 2
37 Methylprednisolone acetate Phase 2
38 Methylprednisolone Hemisuccinate Phase 2
39 Prednisolone acetate Phase 2
40 Prednisolone hemisuccinate Phase 2
41 Prednisolone phosphate Phase 2
42 Antineoplastic Agents, Hormonal Phase 2,Phase 1
43 Gastrointestinal Agents Phase 2,Phase 1
44 Antibodies Phase 2,Phase 1
45 Antibodies, Monoclonal Phase 2,Phase 1
46 Immunoglobulins Phase 2,Phase 1
47 Antimetabolites Phase 2
48 Antimetabolites, Antineoplastic Phase 2
49 Fluorodeoxyglucose F18 Phase 2
50 Edotreotide Phase 2

Interventional clinical trials:

(show all 37)

id Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3 Indium-111 pentetreotide
2 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
3 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2 Sunitinib
4 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
5 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
6 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2 RAD001
7 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
8 Leprosy Skin Test Antigens Trial Completed NCT00128193 Phase 2
9 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Completed NCT00843531 Phase 2 RAD001;erlotinib
10 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
11 131MIBG to Treat Malignant Pheochromocytoma Completed NCT00028106 Phase 2 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
12 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
13 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)
14 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
15 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;Amino Acid
16 Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib
17 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2 Lenvatinib
18 PEN-221 in Somatostatin Receptor 2 Expressing Advanced Cancers Including Neuroendocrine and Small Cell Lung Cancers Recruiting NCT02936323 Phase 1, Phase 2 PEN-221
19 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
20 Evaluation of Gallium-68 DOTA-TOC Imaging of Somatostatin Receptor Positive Malignancies Recruiting NCT02177773 Phase 2 DOTA-TOC PET/CT
21 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
22 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2 Pembrolizumab
23 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2 Dovitinib
24 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)
25 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
26 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
27 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
28 Cixutumumab, Everolimus, and Octreotide Acetate in Treating Patients With Advanced Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT01204476 Phase 1 Everolimus;Octreotide Acetate
29 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
30 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407
31 Specificity of Elevated Plasma EM66 Levels in Pheochromocytoma Completed NCT01022515
32 Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions Recruiting NCT03160274
33 Diagnosis of Pheochromocytoma Recruiting NCT00004847
34 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
35 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation Active, not recruiting NCT02186678
36 Expanded Access Program of Ultratrace Iobenguane I131 for Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Available NCT02961491 Ultratrace Iobenguane I131
37 Compassionate Use of 131I-MIBG for Patients With Malignant Pheochromocytoma Available NCT01377532 131 I-Metaiodobenzylguanidine (131 I-MIBG)

Search NIH Clinical Center for Paragangliomas 2

Genetic Tests for Paragangliomas 2

Genetic tests related to Paragangliomas 2:

id Genetic test Affiliating Genes
1 Paragangliomas 2 29
2 Sdhaf2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 24 SDHAF2

Anatomical Context for Paragangliomas 2

MalaCards organs/tissues related to Paragangliomas 2:

39
Lung, Testes, Liver, Kidney, Skin, Thyroid

Publications for Paragangliomas 2

Articles related to Paragangliomas 2:

id Title Authors Year
1
Nonchromaffin paraganglioma. 2. Carotid body tumor. ( 5035672 )
1972

Variations for Paragangliomas 2

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 2:

71
id Symbol AA change Variation ID SNP ID
1 SDHAF2 p.Gly78Arg VAR_058705 rs113560320

ClinVar genetic disease variations for Paragangliomas 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh37 Chromosome 11, 61205292: 61205292

Expression for Paragangliomas 2

Search GEO for disease gene expression data for Paragangliomas 2.

Pathways for Paragangliomas 2

GO Terms for Paragangliomas 2

Sources for Paragangliomas 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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