MCID: PRG020
MIFTS: 32

Paragangliomas 3

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

Aliases & Classifications for Paragangliomas 3

MalaCards integrated aliases for Paragangliomas 3:

Name: Paragangliomas 3 54 50 24 71 29 13 69
Sdhc-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 50 24
Pgl3 50 71
Familial Non-Chromaffin Paragangliomas 3 71
Glomus Tumors, Familial, 3 50
Glomus Tumors Familial 3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
cells of origin are part of the diffuse neuroendocrine system (dnes)
adult onset, wide range of age
signs and symptoms depend on tumor location and activity
see also pgl1


HPO:

32
paragangliomas 3:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paragangliomas 3

UniProtKB/Swiss-Prot : 71 Paragangliomas 3: 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 3, also known as sdhc-related hereditary paraganglioma-pheochromocytoma syndrome, is related to hereditary paraganglioma-pheochromocytoma syndromes and paraganglioma, and has symptoms including tachycardia, palpitations and loss of voice. An important gene associated with Paragangliomas 3 is SDHC (Succinate Dehydrogenase Complex Subunit C). The drugs Somatostatin and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Description from OMIM: 605373

Related Diseases for Paragangliomas 3

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 3
Paragangliomas 5 Paragangliomas 2
Nonsyndromic Paraganglioma

Diseases related to Paragangliomas 3 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 3

Symptoms via clinical synopsis from OMIM:

54

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

Cardiovascular- Vascular:
hypertension (with pheochromocytoma)

Skin Nails & Hair- Skin:
diaphoresis (with pheochromocytoma)

Neurologic- Behavioral Psychiatric Manifestations:
anxiety (with pheochromocytoma)

Neoplasia:
paragangliomas
multiple tumors
paragangliomas, head and neck
chemodectomas
carotid body tumors
more
Cardiovascular- Heart:
palpitations (with pheochromocytoma)
tachycardia (with pheochromocytoma)

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

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

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

Laboratory- Abnormalities:
elevated catecholamines (in patients with pheochromocytoma)


Clinical features from OMIM:

605373

Human phenotypes related to Paragangliomas 3:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 tachycardia 32 HP:0001649
2 palpitations 32 HP:0001962
3 loss of voice 32 HP:0001686
4 vocal cord paralysis 32 HP:0001605
5 hyperhidrosis 32 HP:0000975
6 recurrent paroxysmal headache 32 HP:0002331
7 episodic paroxysmal anxiety 32 HP:0000740
8 hypertension associated with pheochromocytoma 32 HP:0002640
9 glomus jugular tumor 32 HP:0003001
10 extraadrenal pheochromocytoma 32 HP:0006737
11 adrenal pheochromocytoma 32 HP:0006748
12 chemodectoma 32 HP:0030074
13 elevated circulating catecholamine level 32 HP:0003334

UMLS symptoms related to Paragangliomas 3:


aphonia

Drugs & Therapeutics for Paragangliomas 3

Drugs for Paragangliomas 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
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
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
3
Ifosfamide Approved Phase 3 3778-73-2 3690
4
Lenograstim Approved Phase 3 135968-09-1
5
Mechlorethamine Approved Phase 3 51-75-2 4033
6
Doxazosin Approved Phase 3 74191-85-8 3157
7
Phenoxybenzamine Approved Phase 3 59-96-1 4768
8
Doxil Approved June 1999 Phase 3 31703
9 3-Iodobenzylguanidine Phase 3,Phase 1,Phase 2
10 Radiopharmaceuticals Phase 3,Phase 1,Phase 2
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 Alkylating Agents Phase 3
15 Anti-Bacterial Agents Phase 3,Phase 2
16 Antibiotics, Antitubercular Phase 3,Phase 2
17 Isophosphamide mustard Phase 3
18 Topoisomerase Inhibitors Phase 3
19 Neurotransmitter Agents Phase 3
20 Adrenergic Agents Phase 3
21 Adrenergic alpha-1 Receptor Antagonists Phase 3
22 Adrenergic alpha-Antagonists Phase 3
23 Adrenergic Antagonists Phase 3
24 Antihypertensive Agents Phase 3
25 Vasodilator Agents Phase 3
26
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
27
Everolimus Approved Phase 2 159351-69-6 6442177
28
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
29 Racepinephrine Approved Phase 2
30
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
31
Carbidopa Approved Phase 2 28860-95-9 34359 38101
32
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
33
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
34
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
35
Pembrolizumab Approved Phase 2 1374853-91-4
36
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
37
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
38
Iodine Investigational Phase 1, Phase 2 7553-56-2 807
39 cadexomer iodine Phase 1, Phase 2
40 Antifungal Agents Phase 2
41 Anti-Infective Agents Phase 2
42 Epinephryl borate Phase 2
43 Immunosuppressive Agents Phase 2
44 alpha-methyltyrosine Phase 2
45 Methylprednisolone acetate Phase 2
46 Methylprednisolone Hemisuccinate Phase 2
47 Prednisolone acetate Phase 2
48 Prednisolone hemisuccinate Phase 2
49 Prednisolone phosphate Phase 2
50 Fluorodeoxyglucose F18 Phase 2

Interventional clinical trials:

(show all 29)

id Name Status NCT ID Phase Drugs
1 Stereotactic Body Radiotherapy for Head and Neck Tumors Active, not recruiting NCT01344356 Phase 4
2 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
3 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3 Indium-111 pentetreotide
4 Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3 123I-mIBG (meta-iodobenzylguanidine)
5 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
6 Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
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 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2 RAD001
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 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
11 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
12 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;Amino Acid
13 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
14 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)
15 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2 Pembrolizumab
16 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 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 Axitinib (AG-013736)
18 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
19 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
20 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
21 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407
22 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation Active, not recruiting NCT02186678
23 Stereotactic Body Radiotherapy for Spine Tumors Active, not recruiting NCT01347307
24 Expanded Access Program of Ultratrace Iobenguane I131 for Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Available NCT02961491 Ultratrace Iobenguane I131
25 Expanded Access Protocol Using 131I-MIBG Therapy for Refractory Neuroblastoma, Pheochromocytoma, or Paraganglioma Available NCT01838187
26 Expanded Access Protocol Using I131-MIBG Available NCT01590680
27 131-I-MIBG Therapy for Refractory Neuroblastoma and Metastatic Paraganglioma/Pheochromocytoma Available NCT01163383 131 I-Metaiodobenzylguanidine (131 I-MIBG);131 I-MIBG
28 Compassionate Use of 131I-MIBG for Patients With Malignant Pheochromocytoma Available NCT01377532 131 I-Metaiodobenzylguanidine (131 I-MIBG)
29 Content Validation of Quality of Life and Symptom Questionnaires for Pheochromocytoma and Paraganglioma Terminated NCT00911729

Search NIH Clinical Center for Paragangliomas 3

Genetic Tests for Paragangliomas 3

Genetic tests related to Paragangliomas 3:

id Genetic test Affiliating Genes
1 Paragangliomas 3 29
2 Sdhc-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 24 SDHC

Anatomical Context for Paragangliomas 3

MalaCards organs/tissues related to Paragangliomas 3:

39
Kidney

Publications for Paragangliomas 3

Articles related to Paragangliomas 3:

id Title Authors Year
1
Nonchromaffin paraganglioma. 3. Glomus jugulare tumors. ( 4338957 )
1972

Variations for Paragangliomas 3

ClinVar genetic disease variations for Paragangliomas 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHC NM_003001.3(SDHC): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776652 GRCh37 Chromosome 1, 161284198: 161284198
2 SDHC NM_003001.3(SDHC): c.405+1G> T single nucleotide variant Pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
3 SDHC SDHC, 8,372-BP DEL deletion Pathogenic
4 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh37 Chromosome 1, 161293426: 161293426
5 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh37 Chromosome 1, 161326622: 161326622
6 SDHC NM_003001.3(SDHC): c.406-?_*2318+?del deletion Pathogenic
7 SDHC NC_000001.11: g.(?_161340594)_(161340655_?)dup duplication Likely pathogenic GRCh37 Chromosome 1, 161310384: 161310445
8 SDHC NC_000001.11: g.(?_161356677)_(161356840_?)del deletion Pathogenic GRCh37 Chromosome 1, 161326467: 161326630
9 SDHC NM_003001.3(SDHC): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs755235380 GRCh38 Chromosome 1, 161314406: 161314406

Expression for Paragangliomas 3

Search GEO for disease gene expression data for Paragangliomas 3.

Pathways for Paragangliomas 3

GO Terms for Paragangliomas 3

Sources for Paragangliomas 3

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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