PGGSS
MCID: PRG017
MIFTS: 61

Paraganglioma and Gastric Stromal Sarcoma (PGGSS)

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

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

MalaCards integrated aliases for Paraganglioma and Gastric Stromal Sarcoma:

Name: Paraganglioma and Gastric Stromal Sarcoma 56 52 58 73 13 71
Carney-Stratakis Syndrome 56 12 52 58 73 29 6 15
Paraganglioma and Gastrointestinal Stromal Tumor 56 52 73
Carney Dyad 52 58
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 52
Paraganglioma, Gastric Stromal Sarcoma 39
Gastrointestinal Stromal Tumors 71
Gist-Paraganglioma Dyad 58
Paraganglioma and Gist 52
Carney-Stratakis Dyad 58
Pggss 73

Characteristics:

Orphanet epidemiological data:

58
carney-stratakis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0080533
OMIM 56 606864
ICD10 via Orphanet 33 D44.8
UMLS via Orphanet 72 C1847319
Orphanet 58 ORPHA97286
MedGen 41 C1847319
UMLS 71 C0238198 C1847319

Summaries for Paraganglioma and Gastric Stromal Sarcoma

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97286 Definition Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. Epidemiology It is a very rare syndrome reported in less than 20 unrelated families to date. It presents at a young age (median age: 19 years) with an apparently equal ratio of male and female patients. Clinical description Patients with Carney-Stratakis syndrome have both GIST and paraganglioma. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of Carney-Stratakis syndrome varies widely, depending on the localization and the size of the tumors, and may include a palpable mass, dysphagia , abdominal pain, weight loss, hematemesis, melena, obstruction, perforation, cranial nerve palsies, tinnitus and hearing loss . GIST are intramural mesenchymal tumors of the gastrointestinal tract that originate from stem cells with characteristics of the interstitial cells of Cajal (the pacemaker cells which regulate peristalsis in the digestive tract). Paragangliomas are usually benign tumors that occur without clinical evidence of oversecretion and that arise within the sympathetic nervous system from cells of the paraganglia. Etiology The vast majority of Carney-Stratakis syndrome cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB , SDHC and SDHD . Diagnostic methods Diagnosis is made by clinical and radiologic examination, and confirmed immunohistochemically. Genetic testing to determine if SDH defects may be contributing to tumor growth or recurrence should be offered to pediatric GIST patients. Differential diagnosis The main differential diagnosis includes Carney triad. Genetic counseling Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance . Management and treatment Treatment modalities are surgery, embolization and radiotherapy. Chemotherapy with imatinib mesylate may be helpful for some patients with advanced-stage GIST. Targeting SDH function may potentiallybe useful in treating Carney-Stratakis syndrome patients but, at present, there are no drugs that restore SDH function. Life-long follow-up should be offered to patients with Carney-Stratakis syndrome. Visit the Orphanet disease page for more resources.

MalaCards based summary : Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to hereditary paraganglioma-pheochromocytoma syndromes and leiomyosarcoma. An important gene associated with Paraganglioma and Gastric Stromal Sarcoma is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Pathways in cancer and ErbB signaling pathway. The drugs Sunitinib and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and bone, and related phenotypes are gastrointestinal stroma tumor and paraganglioma

Disease Ontology : 12 A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.

UniProtKB/Swiss-Prot : 73 Paraganglioma and gastric stromal sarcoma: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance.

More information from OMIM: 606864

Related Diseases for Paraganglioma and Gastric Stromal Sarcoma

Diseases related to Paraganglioma and Gastric Stromal Sarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 184)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 31.1 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
2 leiomyosarcoma 30.6 PDGFRA NF1 KIT FH
3 carney triad 30.3 SDHD SDHC SDHB SDHA PDGFRA KIT
4 paragangliomas 1 30.2 SDHD SDHC SDHB RET
5 gastrointestinal stromal tumor 30.2 SDHD SDHC SDHB SDHA PDGFRA NF1
6 neurofibromatosis 29.9 SDHD SDHB RET PDGFRA NF1
7 gastric leiomyosarcoma 29.9 SDHD SDHC SDHB SDHA PGLS PDGFRA
8 lentigines 29.8 PRKAR1A MEN1 KIT
9 multiple endocrine neoplasia 29.2 SDHC SDHB RET PRKAR1A MEN1
10 chondroma 28.9 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
11 von hippel-lindau syndrome 28.9 TMEM127 SDHD SDHC SDHB RET NF1
12 pheochromocytoma 27.3 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
13 paraganglioma 26.7 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
14 reticular perineurioma 10.5 PDGFRA KIT
15 small intestinal sarcoma 10.5 PDGFRA KIT
16 pulmonary vein stenosis 10.5 PDGFRA KIT
17 laryngeal small cell carcinoma 10.5 PDGFRA KIT
18 hypereosinophilic syndrome, idiopathic 10.4 PDGFRA KIT
19 gastric hemangioma 10.4 KIT ANO1
20 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.4 PDGFRA KIT
21 sm-ahnmd 10.4 PDGFRA KIT
22 foster-kennedy syndrome 10.4 SDHD SDHAF2 SDHA
23 prostate embryonal rhabdomyosarcoma 10.4 KIT IGF1R
24 adrenal gland pheochromocytoma 10.3
25 nephrotic syndrome 10.3
26 nonsyndromic paraganglioma 10.3
27 plexiform neurofibroma 10.3 PDGFRA NF1 KIT
28 endometrial small cell carcinoma 10.3 PDGFRA KIT
29 plethora of newborn 10.3 PGLS EGLN1
30 leiomyoma cutis 10.3 SDHD FH
31 dermis tumor 10.3 SDHD FH
32 hereditary renal cell carcinoma 10.2 SDHB SDHA FH
33 multiple mucosal neuroma 10.2 SDHAF2 RET
34 sporadic pheochromocytoma/secreting paraganglioma 10.2 SDHD SDHB RET
35 basophil adenoma 10.2 PRKAR1A PDE11A
36 leiomyomatosis 10.2 SDHB KIT FH
37 breast ductal adenoma 10.2 PRKAR1A PDE11A
38 familial renal papillary carcinoma 10.2 SDHB FH
39 rare tumor 10.2 RET KIT
40 b-lymphoblastic leukemia/lymphoma with hypodiploidy 10.2 SDHA RET
41 hereditary leiomyomatosis and renal cell cancer 10.2 SDHB FH
42 mucinous stomach adenocarcinoma 10.2 KIT ANO1
43 oncocytoma 10.2 SDHB KIT FH
44 breast adenoma 10.1 PRKAR1A PDE11A
45 acth-independent cushing syndrome 10.1 PRKAR1A PDE11A
46 gastric cancer, hereditary diffuse 10.1
47 paragangliomas 2 10.1
48 paragangliomas 3 10.1
49 sarcoma 10.1
50 spindle cell sarcoma 10.1

Graphical network of the top 20 diseases related to Paraganglioma and Gastric Stromal Sarcoma:



Diseases related to Paraganglioma and Gastric Stromal Sarcoma

Symptoms & Phenotypes for Paraganglioma and Gastric Stromal Sarcoma

Human phenotypes related to Paraganglioma and Gastric Stromal Sarcoma:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastrointestinal stroma tumor 58 31 hallmark (90%) Very frequent (99-80%) HP:0100723
2 paraganglioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002668
3 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
4 cranial nerve paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006824
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
7 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
8 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
9 intestinal obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0005214
10 tinnitus 58 31 frequent (33%) Frequent (79-30%) HP:0000360
11 neoplasm of the gastrointestinal tract 31 HP:0007378

Clinical features from OMIM:

606864

GenomeRNAi Phenotypes related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.75 MEN1
2 Decreased viability GR00173-A 10.75 PDGFRA
3 Decreased viability GR00221-A-1 10.75 IGF1R KIT NF1 PDGFRA PRKAR1A RET
4 Decreased viability GR00221-A-2 10.75 IGF1R NF1 PRKAR1A RET SDHD
5 Decreased viability GR00221-A-3 10.75 IGF1R PDGFRA PRKAR1A
6 Decreased viability GR00221-A-4 10.75 NF1 PDGFRA PRKAR1A RET SDHD
7 Decreased viability GR00240-S-1 10.75 SDHB
8 Decreased viability GR00249-S 10.75 ANO1 NF1 PDE11A PDGFRA SDHD
9 Decreased viability GR00301-A 10.75 IGF1R KIT RET
10 Decreased viability GR00342-S-2 10.75 IGF1R
11 Decreased viability GR00381-A-1 10.75 SDHD
12 Decreased viability GR00386-A-1 10.75 NF1 TMEM127
13 Decreased viability GR00402-S-2 10.75 EGLN1 IGF1R PDGFRA PGLS RET TMEM127
14 Increased colony dispersion (increased number of colonies and decreased number of cells per colony) GR00212-A 8.8 IGF1R PDGFRA RET

MGI Mouse Phenotypes related to Paraganglioma and Gastric Stromal Sarcoma:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 ANO1 CD34 EGLN1 FH IGF1R KIF1B
2 cellular MP:0005384 10.38 CD34 EGLN1 FH IGF1R KIT MEN1
3 behavior/neurological MP:0005386 10.36 ANO1 IGF1R KIF1B KIT NF1 PDE11A
4 growth/size/body region MP:0005378 10.36 ANO1 EGLN1 IGF1R KIF1B KIT MEN1
5 cardiovascular system MP:0005385 10.32 ANO1 EGLN1 IGF1R KIF1B KIT MEN1
6 mortality/aging MP:0010768 10.31 ANO1 EGLN1 FH IGF1R KIF1B KIT
7 embryo MP:0005380 10.28 EGLN1 IGF1R KIF1B KIT MEN1 NF1
8 hematopoietic system MP:0005397 10.27 CD34 EGLN1 IGF1R KIT NF1 PDGFRA
9 craniofacial MP:0005382 10.21 EGLN1 IGF1R KIF1B KIT MEN1 NF1
10 endocrine/exocrine gland MP:0005379 10.18 IGF1R KIT MEN1 NF1 PDGFRA PRKAR1A
11 integument MP:0010771 10.16 ANO1 CD34 EGLN1 IGF1R KIF1B KIT
12 digestive/alimentary MP:0005381 10.15 ANO1 IGF1R KIT MEN1 NF1 PDGFRA
13 muscle MP:0005369 10.11 ANO1 EGLN1 IGF1R KIF1B KIT MEN1
14 neoplasm MP:0002006 10.06 CD34 IGF1R KIT MEN1 NF1 PDGFRA
15 nervous system MP:0003631 10 ANO1 EGLN1 IGF1R KIF1B KIT MEN1
16 limbs/digits/tail MP:0005371 9.98 IGF1R KIF1B KIT NF1 PDGFRA RET
17 renal/urinary system MP:0005367 9.76 ANO1 EGLN1 FH KIT NF1 PDGFRA
18 respiratory system MP:0005388 9.61 ANO1 EGLN1 IGF1R KIF1B KIT NF1
19 skeleton MP:0005390 9.36 ANO1 EGLN1 IGF1R KIF1B KIT NF1

Drugs & Therapeutics for Paraganglioma and Gastric Stromal Sarcoma

Drugs for Paraganglioma and Gastric Stromal Sarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 176)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sunitinib Approved, Investigational Phase 4 557795-19-4, 341031-54-7 5329102
2
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
3
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
4
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
5
Caffeine Approved Phase 4 58-08-2 2519
6 Protein Kinase Inhibitors Phase 4
7 Angiogenesis Inhibitors Phase 4
8 Anesthetics Phase 4
9 Pharmaceutical Solutions Phase 4
10 Gastrointestinal Agents Phase 4
11 Antacids Phase 4
12 Proton Pump Inhibitors Phase 4
13 Anti-Ulcer Agents Phase 4
14 Anti-Anxiety Agents Phase 4
15
Erlotinib Hydrochloride Phase 4 183319-69-9 176871
16 Neurotransmitter Agents Phase 4
17 Hypnotics and Sedatives Phase 4
18 Central Nervous System Stimulants Phase 4
19 Phosphodiesterase Inhibitors Phase 4
20 Anesthetics, General Phase 4
21 Psychotropic Drugs Phase 4
22 Anesthetics, Intravenous Phase 4
23 GABA Modulators Phase 4
24
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
25
Lactitol Approved, Investigational Phase 2, Phase 3 585-88-6, 585-86-4 493591
26 Orange Approved Phase 2, Phase 3
27
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
28
Bevacizumab Approved, Investigational Phase 3 216974-75-3
29
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
30
Crenolanib Investigational Phase 3 670220-88-9 10366136
31 Hormones Phase 3
32 Calcium, Dietary Phase 3
33 carnitine Phase 3
34 Imatinib Mesylate Phase 3 220127-57-1 123596
35 Immunologic Factors Phase 3
36 Immunoglobulins Phase 3
37 Antibodies Phase 3
38 Antibodies, Monoclonal Phase 3
39 Antineoplastic Agents, Immunological Phase 3
40 Endothelial Growth Factors Phase 3
41 Immunoglobulins, Intravenous Phase 3
42 Immunoglobulin G Phase 3
43
Calcium Nutraceutical Phase 3 7440-70-2 271
44
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
45
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
46
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
47
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
48
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
49 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
50
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 11431660 5330286

Interventional clinical trials:

(show top 50) (show all 285)
# Name Status NCT ID Phase Drugs
1 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4 usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
2 Post-Marketing Clinical Study of Postoperative Adjuvant Therapy With Imatinib Mesylate in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT00171977 Phase 4 Imatinib Mesylate
3 A Single-arm, Open-label, Multi-center, Phase Iv, Efficacy And Safety Study Of Sunitinib Malate In The Treatment Of Chinese Patients With Gastrointestinal Stromal Tumor After Disease Progression On Or Intolerance To Imatinib Mesylate Completed NCT00793871 Phase 4 Sunitinib Malate (SU011248)
4 Multicenter, Single-arm, Two Stage Phase II Trial of RAD001 (Everolimus) With Imatinib in Imatinib-resistant Patients With Progressive GIST Completed NCT00510354 Phase 4 Imatinib mesylate
5 The Effects of the Proton Pump Inhibitor Esomeprazole on the Bioavailability of Regorafenib in Patients With Metastatic Colorectal Cancer (mCRC) or Gastrointestinal Stromal Tumour (GIST) Completed NCT02800330 Phase 4 Esomeprazole 40mg concomitantly;Esomeprazole 40mg before;Regorafenib 160mg or 120mg
6 Cytochrom p450 3A4 and 1A2 Phenotyping for the Individualization of Treatment With Sunitinib or Erlotinib in Cancer Patients Completed NCT01402089 Phase 4 Sunitinib;Erlotinib;Midazolam;Caffeine
7 An Open-label, Multi-center, Single-arm Study to Evaluate the Efficacy of Nilotinib in Adult Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumors in First Line Treatment Active, not recruiting NCT00756509 Phase 4 Nilotinib
8 Phase III Randomized, Intergroup, International Trial Assessing the Clinical Activity of STI-571 at Two Dose Levels in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors (GIST) Expressing the KIT Receptor Tyrosine Kinase (CD117) Unknown status NCT00685828 Phase 3 imatinib mesylate
9 Endoscopic Ultrasonography Guided Fine Needle Biopsy (EUS-FNB) vs. Single-incision Needle-knife (SINK) Biopsy for Diagnosis of Upper Gastrointestinal Subepithelial Lesions Unknown status NCT02866045 Phase 3
10 An Open-label, Multi-center Study to Evaluate the Efficacy of Nilotinib in Adult Patients With Gastrointestinal Stromal Tumors Resistant to Imatinib and Sunitinib. Completed NCT01289028 Phase 3 Nilotinib
11 A Randomized, Open Label, Multi-center Phase III Study to Evaluate the Efficacy and Safety of Nilotinib Versus Imatinib in Adult Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors (GIST) Completed NCT00785785 Phase 3 Nilotinib (AMN107);imatinib (STI571)
12 A Randomized, Open-label, Multi-center Study to Evaluate the Efficacy of Nilotinib Versus Best Supportive Care With or Without a Tyrosine Kinase Inhibitor (Investigator's Choice) in Adult Patients With Gastrointestinal Stromal Tumors Resistant to Both Imatinib and Sunitinib Completed NCT00471328 Phase 3 Nilotinib
13 An Open-label Trial of Glivec in Patients With Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumors Expressing C-kit. Completed NCT00293124 Phase 3 Glivec
14 A Prospective, Double Blind, Randomized, Placebo-Controlled Phase III Trial of Imatinib Re-Challenge in Patients With Gastrointestinal Stromal Tumor Who Had Benefit From Prior Imatinib But Progression From Both Imatinib and Sunitinib Completed NCT01151852 Phase 3 Imatinib;Placebo
15 Prospective, Explorative Trial for the Detection of Circulating Cell-free Tumor DNA in the Plasma of Patients With Gastrointestinal Stromal Tumors (GIST)Harboring Activating Mutations of CKIT or PDGFRA Pre/Post Surgery or Pre/Under Treatment With a Tyrosine Kinase Inhibitor or Progressive Disease Irrespective of Current or Planned Treatment. An Open-label, Non-randomized, Multicenter Phase IIIb Clinical Trial Completed NCT01462994 Phase 3
16 A Randomized, Double-blind, Placebo-controlled Phase III Study of Regorafenib Plus Best Supportive Care Versus Placebo Plus Best Supportive Care for Subjects With Metastatic and/or Unresectable Gastrointestinal Stromal Tumors (GIST) Whose Disease Has Progressed Despite Prior Treatment With at Least Imatinib and Sunitinib Completed NCT01271712 Phase 3 Regorafenib (Stivarga, BAY73-4506);Placebo;Best supportive care
17 A Phase III, Randomized, Double-Blind, Placebo-Controlled Study Of SU011248 In The Treatment Of Patients With Imatinib Mesylate (Gleevec Tm, Glivec)-Resistant Or Intolerant Malignant Gastrointestinal Stromal Tumor Completed NCT00075218 Phase 3 Placebo;SU011248
18 Intermediate and High Risk Localized, Completely Resected, Gastrointestinal Stromal Tumors (GIST) Expressing KIT Receptor: A Controlled Randomized Trial on Adjuvant Imatinib Mesylate (Glivec) Versus No Further Therapy After Complete Surgery Completed NCT00103168 Phase 3 imatinib mesylate
19 A Prospective Multicentric Randomized Study of Glivec® in Patients With Advanced Gastrointestinal Stromal Tumors Expressing C-kit Comparing Treatment Interruption After 5 Years vs Treatment Maintenance Completed NCT00367861 Phase 3 interruption of Glivec®
20 A Randomized, Open Label, Two-Treatment, Multiple Dose, Steady State, Two-period, Cross-over, Multi-Centre Comparative Bioequivalence Study of Imatinib Mesylate Tablet 400 mg of Amneal Pharmaceuticals, USA With GLEEVEC® (Imatinib Mesylate) Tablets 400 mg Distributed by Novartis Pharmaceuticals Corporation, East Hanover, New Jersey 07936 in Adult Patients Suffering From Chronic Myeloid Leukemia & Gastrointestinal Stromal Tumor Under Fed Conditions Completed NCT02103322 Phase 2, Phase 3 Imatinib Mesylate Tablets, 400 mg;Imatinib Mesylate Tablets, 400 mg
21 A Phase III Randomized Double-Blind Study of Adjuvant STI571 (Gleevec™) Versus Placebo in Patients Following the Resection of Primary Gastrointestinal Stromal Tumor (GIST) Completed NCT00041197 Phase 3 imatinib mesylate
22 Short (12 Months) Versus Long (36 Months) Duration of Adjuvant Treatment With the Tyrosine Kinase Inhibitor Imatinib Mesylate of Operable GIST With a High Risk of Recurrence Completed NCT00116935 Phase 3 imatinib mesylate;imatinib;imatinib
23 Phase III Randomized Double-blind Cross-over Trial of Caphosol® Versus NaCl 0.9% in the Relief of Oral Mucositis in Renal Cell Carcinoma, Hepatocellular Carcinoma, and Gastrointestinal Stromal Tumor Patients Receiving Targeted Therapy Completed NCT01265810 Phase 3
24 A Phase 3, Interventional, Randomized, Multicenter, Open-Label Study of DCC-2618 vs Sunitinib in Patients With Advanced Gastrointestinal Stromal Tumors After Treatment With Imatinib Recruiting NCT03673501 Phase 3 DCC-2618;Sunitinib
25 Phase III Study of L-carnitine vs Placebo for the Treatment of Muscle Cramps After Imatinib in Patients With Gastrointestinal Stromal Tumors (GISTs) (Single-center Study) Recruiting NCT03426722 Phase 3 L-carnitine;Placebo
26 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial of Crenolanib in Subjects With Advanced or Metastatic Gastrointestinal Stromal Tumors With a D842V Mutation in the PDGFRA Gene Recruiting NCT02847429 Phase 3 Crenolanib;Placebo
27 A Randomized Multicenter Phase III Trial Evaluating the Interest of Imatinib Treatment Maintenance or Interruption After 3 Years of Adjuvant Treatment in Patients With Gastrointestinal Stromal Tumours (GIST) Recruiting NCT02260505 Phase 3 Imatinib maintenance
28 A Phase 3, INterVentional, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of DCC-2618 In Patients With AdvanCed Gastrointestinal Stromal TUmorS Who Have Received Treatment With Prior Anticancer Therapies Active, not recruiting NCT03353753 Phase 3 DCC-2618;Placebo Oral Tablet
29 A Prospective, Multicenter, Randomized, Open-label, Active-controlled, Two-parallel Groups, Phase 3 Study to Compare the Efficacy and Safety of Masitinib to Sunitinib in Patients With Gastrointestinal Stromal Tumor After Progression With Imatinib at 400mg as First Line Treatment Active, not recruiting NCT01694277 Phase 3 Masitinib;Sunitinib
30 An International, Multicenter, Open-label, Randomized, Phase 3 Study of BLU-285 vs Regorafenib in Patients With Locally Advanced Unresectable or Metastatic Gastrointestinal Stromal Tumor (GIST) Active, not recruiting NCT03465722 Phase 3 avapritinib;regorafenib
31 A Phase III, Open Label, Randomised,Controlled, Multi-centre Study to Assess the Efficacy and Safety of Famitinib Versus Sunitinib in the Treatment of Advanced Gastrointestinal Stromal Tumour Patients After Failure of Imatinib Not yet recruiting NCT04409223 Phase 3 Famitinib capsules;Sunitinib Capsules
32 Efficacy of Adjuvant Imatinib in Patients With Intermediate-risk Gastrointestinal Stromal Tumor With a High-risk Genomic Grade Index. Multicenter, Prospective, Randomized Study. Etude Multicentrique, Prospective, randomisée Not yet recruiting NCT02576080 Phase 3 Imatinib
33 A Phase IIIB, Randomized, Active Controlled Open-Label Study Of Sunitinib (Sutent) 37.5 Mg Daily Vs Imatinib Mesylate 800 Mg Daily In The Treatment Of Patients With Gastrointestinal Stromal Tumors (GIST) Who Have Had Progressive Disease While On 400 Mg Daily Of Imatinib Terminated NCT00372567 Phase 3 sunitinib malate;imatinib mesylate
34 A Randomized, Phase 3 Study of Dose Escalation Versus No Dose Escalation of Imatinib In Metastatic GIST Patients With Imatinib Trough Levels Less Than 1100 Nanograms/mL Terminated NCT01031628 Phase 3 Imatinib mesylate;Imatinib mesylate;Imatinib mesylate
35 Randomized Phase III Trial Comparing Nilotinib 800mg to Imatinib 800 mg for the Treatment of Patients With Advanced and/or Metastatic Gastrointestinal Stromal Tumors Refractory to Imatinib 400 mg Terminated NCT00751036 Phase 3 Nilotinib;Imatinib
36 Phase III Randomized, Intergroup Trial Assessing the Clinical Activity Of STI-571 at Two Dose Levels in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors (GIST) Expressing the Kit Receptor Tyrosine Kinase (CD117) Terminated NCT00009906 Phase 3 Imatinib Mesylate
37 A Prospective, Multicenter, Randomized, Open-label, Active-controlled, 2-parallel Group, Phase III Study to Compare Efficacy and Safety of Masitinib at 7.5 mg/kg/Day to Imatinib at 400 or 600 mg in Treatment of Patients With Gastro-intestinal Stromal Tumor in First Line Medical Treatment Terminated NCT00812240 Phase 3 Masitinib;Imatinib
38 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Evaluating the Efficacy and Safety of IPI-504 in Patients With Metastatic and/or Unresectable GIST Following Failure of at Least Imatinib and Sunitinib Terminated NCT00688766 Phase 3 retaspimycin hydrochloride (IPI-504);placebo
39 A Prospective, Multicenter, Randomised, Double-blinded, Placebo-controlled, Two-parallel Groups, Phase III Study to Compare the Efficacy and Safety of Masitinib to Placebo in Patients With Localized, Primary Gastrointestinal Stromal Tumor (GIST) After Complete Surgery and With High Risk of Recurrence Terminated NCT02009423 Phase 3 Masitinib;Placebo
40 A Phase III Randomized Study of Imatinib, With or Without Bevacizumab (NSC-704865), in Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumors Terminated NCT00324987 Phase 3 Imatinib Mesylate
41 A Phase III Randomized Study Evaluating Surgery of Residual Disease in Patients With Metastatic Gastro-intestinal Stromal Tumor Responding to Imatinib Mesylate. Terminated NCT00956072 Phase 3 imatinib mesylate
42 A Phase II Study on Preoperative Administration of Gleevec in Patients With Initially Non-Resectable Gastrointestinal Stromal Tumor Unknown status NCT00290485 Phase 2 Imatinib mesylate
43 Randomized Phase 2 Study of Intermittent vs Continuous Dosing Schedule of Imatinib in Patients With Tyrosine Kinase Inhibitor Refractory Gastrointestinal Stromal Tumors (GISTs) Unknown status NCT02712112 Phase 2 Imatinib Mesylate
44 A Single Arm, Open Label, Multicenter, Phase II Study of Famitinib in Patients With Gastrointestinal Stromal Tumor Unknown status NCT02336724 Phase 2 Famitinib
45 Use of a Quick Skin Sealant in Prevention of Surgical Site Infection After Laparoscopic Tumor Resection Unknown status NCT02426762 Phase 2
46 A Phase II Study of AUY922, a Novel HSP Inhibitor, in Patients With Advanced GIST Failed to or Intolerance of Imatinib and Sunitinib Therapy Unknown status NCT01389583 Phase 2 AUY922
47 A Phase II Trial of Concurrent Sunitinib, Temozolomide and Radiation Therapy Followed by Adjuvant Temozolomide for Newly Diagnosed Glioblastoma Patients With an Unmethylated MGMT Gene Promoter Unknown status NCT02928575 Phase 2 Sunitinib;Temozolomide
48 Low-Dose Oral Imatinib in the Treatment of Scleroderma Pulmonary Involvement: A Phase II Pilot Study Unknown status NCT00573326 Phase 2 Imatinib
49 Phase II Clinical Study of Imatinib Mesylate in Patients With Malignant Gastrointestinal Stromal Tumors (Extension Study) Completed NCT00237172 Phase 2 Imatinib Mesylate
50 A Multi-center Phase II Study to Evaluate the Efficacy and Safety of AMN107 (Nilotinib) in Patients With Gastrointestinal Stromal Tumors Who Have Progressed on or Are Intolerant to Both Imatinib and Sunitinib Completed NCT00718562 Phase 2 AMN107

Search NIH Clinical Center for Paraganglioma and Gastric Stromal Sarcoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


regorafenib
sunitinib
sunitinib malate

Genetic Tests for Paraganglioma and Gastric Stromal Sarcoma

Genetic tests related to Paraganglioma and Gastric Stromal Sarcoma:

# Genetic test Affiliating Genes
1 Carney-Stratakis Syndrome 29 SDHB SDHC SDHD

Anatomical Context for Paraganglioma and Gastric Stromal Sarcoma

MalaCards organs/tissues related to Paraganglioma and Gastric Stromal Sarcoma:

40
Testes, Liver, Bone, Breast, Skin, Colon, Kidney

Publications for Paraganglioma and Gastric Stromal Sarcoma

Articles related to Paraganglioma and Gastric Stromal Sarcoma:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. 6 56 61
17667967 2008
2
Familial gastrointestinal stromal tumors and germ-line mutations. 56 6
17804857 2007
3
Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: probable familial Carney syndrome. 56 6
15383933 2004
4
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 6 61
21173220 2011
5
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. 56 61
11857563 2002
6
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors. 61
31169996 2020
7
Pediatric gastrointestinal stromal tumor: Report of two novel patients harboring germline variants in SDHB and SDHC genes. 61
31883676 2020
8
Current management of succinate dehydrogenase-deficient gastrointestinal stromal tumors. 61
31773431 2019
9
Paragangliomas in Carney-Stratakis Syndrome. 61
31174229 2019
10
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor With SDHC Germline Mutation and Bilateral Renal and Neck Cysts. 61
30301441 2019
11
Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome. 61
28739378 2018
12
The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms. 61
29339836 2018
13
[Gastrointestinal stromal tumors of the stomach and precursor lesions]. 61
28243730 2017
14
Gastric gastrointestinal stromal tumor with osseous differentiation and stromal calcification: A case report and review of literature. 61
29318014 2017
15
[Carney triad]. 61
28931294 2017
16
Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase-deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases. 61
27340750 2016
17
Bronchial Paraganglioma with SDHB Deficiency. 61
26895210 2016
18
"Wild type" GIST: Clinicopathological features and clinical practice. 61
27427238 2016
19
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 61
26173966 2016
20
Nephrotic syndrome in a man with Carney-Stratakis syndrome. 61
26517646 2015
21
Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. 61
25808178 2015
22
Resection of a large carotid paraganglioma in Carney-Stratakis syndrome: a multidisciplinary feat. 61
25883251 2015
23
Succinate dehydrogenase-deficient gastrointestinal stromal tumors. 61
25741136 2015
24
Adult Patient with Synchronous Gastrointestinal Stromal Tumor and Xp11 Translocation-Associated Renal Cell Carcinoma: A Unique Case Presentation with Discussion and Review of Literature. 61
26246933 2015
25
Update on Paragangliomas and Pheochromocytomas. 61
26177321 2015
26
Synchronous adrenocortical neoplasms, paragangliomas, and pheochromocytomas: syndromic considerations regarding an unusual constellation of endocrine tumors. 61
25288237 2014
27
MDCT features of succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumours. 61
25189191 2014
28
Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report. 61
25130709 2014
29
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. 61
24859990 2014
30
Gastrointestinal stromal tumors in the setting of multiple tumor syndromes. 61
24840526 2014
31
[Gastrointestinal stromal tumor (GIST): advances in 2013]. 61
24758502 2014
32
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 61
23282968 2013
33
Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors. 61
23060355 2013
34
Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors. 61
23109135 2013
35
Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects? 61
22889736 2012
36
[Translational research and diagnosis in GIST]. 61
22968735 2012
37
[A 47-year-old patient with paroxysmal arterial hypertension and gastric tumors]. 61
22790652 2012
38
Carney Stratakis syndrome in a patient with SDHD mutation. 61
22638655 2012
39
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 61
22041710 2011
40
Cardiac paraganglioma and gastrointestinal stromal tumor: a pediatric case of Carney-Stratakis syndrome. 61
22051283 2011
41
Succinate Dehydrogenase Subunit B (SDHB) Is Expressed in Neurofibromatosis 1-Associated Gastrointestinal Stromal Tumors (Gists): Implications for the SDHB Expression Based Classification of Gists. 61
21479127 2011
42
[Gastrointestinal stromal tumours in pediatrics: a summary of the literature on this orphan disease]. 61
21300610 2011
43
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. 61
20890271 2011
44
Hereditary paragangliomas. 61
21358191 2011
45
Solid tumors associated with multiple endocrine neoplasias. 61
20951316 2010
46
[Hereditary and non-hereditary syndromic gastointestinal stromal tumours]. 61
20848108 2010
47
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. 61
20119652 2010
48
Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl. 61
20418362 2010
49
Multiple non-metastatic gastrointestinal stromal tumors. Differential features. 61
20670070 2010
50
Lymphatics and D2-40/podoplanin expression in gastrointestinal stromal tumours of the stomach with and without lymph node metastasis: an immunohistochemical study with special reference to the Carney triad. 61
20203222 2010

Variations for Paraganglioma and Gastric Stromal Sarcoma

ClinVar genetic disease variations for Paraganglioma and Gastric Stromal Sarcoma:

6 (show top 50) (show all 253) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SDHD NM_003002.4(SDHD):c.1A>T (p.Met1Leu)SNV Pathogenic 422629 rs104894307 11:111957632-111957632 11:112086908-112086908
2 SDHD NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)SNV Pathogenic 428939 rs1131691065 11:111959735-111959735 11:112089011-112089011
3 SDHD NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)SNV Pathogenic 438437 rs1050032491 11:111965556-111965556 11:112094832-112094832
4 SDHD NM_003002.4(SDHD):c.170-1G>TSNV Pathogenic 438434 rs1306475361 11:111959590-111959590 11:112088866-112088866
5 SDHD NC_000011.10:g.(?_112094799)_(112094976_?)deldeletion Pathogenic 533799 11:111965523-111965700 11:112094799-112094976
6 SDHD NM_003002.4(SDHD):c.3G>A (p.Met1Ile)SNV Pathogenic 579968 rs80338842 11:111957634-111957634 11:112086910-112086910
7 SDHD NC_000011.10:g.(?_112088857)_(112094980_?)deldeletion Pathogenic 583435 11:111959581-111965704 11:112088857-112094980
8 SDHD NM_003002.4(SDHD):c.13_14del (p.Trp5fs)deletion Pathogenic 618362 rs1566690018 11:111957644-111957645 11:112086920-112086921
9 SDHD NC_000011.10:g.(?_112094795)_(112094980_?)deldeletion Pathogenic 584289 11:111965519-111965704 11:112094795-112094980
10 SDHD NC_000011.10:g.(?_112086898)_(112094980_?)deldeletion Pathogenic 584168 11:111957622-111965704 11:112086898-112094980
11 SDHD NC_000011.10:g.(?_112094795)_(112094970_?)deldeletion Pathogenic 832816 11:111965519-111965694
12 subset of 22 genes: SDHD NC_000011.9:g.(?_111171709)_(111965694_?)deldeletion Pathogenic 831566 11:111171709-111965694
13 SDHD NC_000011.10:g.(?_112086902)_(112094975_?)deldeletion Pathogenic 832458 11:111957626-111965699
14 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)SNV Pathogenic 6893 rs80338843 11:111958640-111958640 11:112087916-112087916
15 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)SNV Pathogenic 6896 rs80338844 11:111959663-111959663 11:112088939-112088939
16 SDHD NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)SNV Pathogenic 6897 rs80338845 11:111959695-111959695 11:112088971-112088971
17 SDHD NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)SNV Pathogenic 6900 rs104894304 11:111965555-111965555 11:112094831-112094831
18 SDHD NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)SNV Pathogenic 6901 rs104894305 11:111958623-111958623 11:112087899-112087899
19 SDHD NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)SNV Pathogenic 6903 rs104894306 11:111958592-111958592 11:112087868-112087868
20 SDHD NM_003002.4(SDHD):c.187_188TC[2] (p.Leu64fs)short repeat Pathogenic 6904 rs387906358 11:111959608-111959609 11:112088884-112088885
21 SDHD NM_003002.4(SDHD):c.3G>C (p.Met1Ile)SNV Pathogenic 6906 rs80338842 11:111957634-111957634 11:112086910-112086910
22 SDHD NM_003002.4(SDHD):c.92_93TC[1] (p.Ala33fs)short repeat Pathogenic 6908 rs397514034 11:111958620-111958621 11:112087896-112087897
23 SDHD NM_003002.4(SDHD):c.1A>G (p.Met1Val)SNV Pathogenic 6911 rs104894307 11:111957632-111957632 11:112086908-112086908
24 SDHD NM_003002.4(SDHD):c.337_340del (p.Asp113fs)deletion Pathogenic 6912 rs587776648 11:111965548-111965551 11:112094824-112094827
25 SDHD NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)SNV Pathogenic 6913 rs104894308 11:111958657-111958657 11:112087933-112087933
26 SDHD NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)SNV Pathogenic 6915 rs104894309 11:111957664-111957664 11:112086940-112086940
27 SDHD NM_003002.4(SDHD):c.57del (p.Leu20fs)deletion Pathogenic 6917 rs587776649 11:111958585-111958585 11:112087861-112087861
28 SDHB NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)SNV Pathogenic 12778 rs74315366 1:17359573-17359573 1:17033078-17033078
29 SDHB NM_003000.2(SDHB):c.423+1G>CSNV Pathogenic 12790 rs398122805 1:17355094-17355094 1:17028599-17028599
30 SDHB NM_003000.2(SDHB):c.423+1G>ASNV Pathogenic 29896 rs398122805 1:17355094-17355094 1:17028599-17028599
31 SDHD NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)SNV Pathogenic 142068 rs587782210 11:111958683-111958683 11:112087959-112087959
32 SDHB NM_003000.2(SDHB):c.640C>T (p.Gln214Ter)SNV Pathogenic 230243 rs876658461 1:17350470-17350470 1:17023975-17023975
33 SDHD NM_003002.4(SDHD):c.147dup (p.His50fs)duplication Pathogenic 231390 rs876659130 11:111958674-111958675 11:112087950-112087951
34 SDHD NM_003002.4(SDHD):c.10dup (p.Leu4fs)duplication Pathogenic 239460 rs878854589 11:111957640-111957641 11:112086916-112086917
35 SDHD NM_003002.4(SDHD):c.173del (p.Gly58fs)deletion Pathogenic 239461 rs878854590 11:111959593-111959593 11:112088869-112088869
36 SDHD NM_003002.4(SDHD):c.242del (p.Pro81fs)deletion Pathogenic 239464 rs878854591 11:111959662-111959662 11:112088938-112088938
37 SDHB NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)SNV Pathogenic/Likely pathogenic 183793 rs772551056 1:17371319-17371319 1:17044824-17044824
38 SDHD NM_003002.4(SDHD):c.304C>A (p.His102Asn)SNV Pathogenic/Likely pathogenic 185719 rs786202403 11:111959725-111959725 11:112089001-112089001
39 SDHB NM_003000.2(SDHB):c.689G>A (p.Arg230His)SNV Pathogenic/Likely pathogenic 142637 rs587782604 1:17349179-17349179 1:17022684-17022684
40 SDHB NM_003000.2(SDHB):c.72+1G>TSNV Pathogenic/Likely pathogenic 142764 rs587782703 1:17380442-17380442 1:17053947-17053947
41 SDHC NM_003001.3(SDHC):c.405+1G>ASNV Pathogenic/Likely pathogenic 7244 rs587776653 1:161326631-161326631 1:161356841-161356841
42 SDHD NM_003002.4(SDHD):c.305A>T (p.His102Leu)SNV Pathogenic/Likely pathogenic 6898 rs104894302 11:111959726-111959726 11:112089002-112089002
43 SDHD NM_003002.4(SDHD):c.314+1G>TSNV Pathogenic/Likely pathogenic 480808 rs1555187083 11:111959736-111959736 11:112089012-112089012
44 SDHD NM_003002.4(SDHD):c.314+1G>ASNV Pathogenic/Likely pathogenic 438436 rs1555187083 11:111959736-111959736 11:112089012-112089012
45 SDHD NM_003002.4(SDHD):c.53-1_53delinsTTindel Likely pathogenic 579812 rs1566691921 11:111958580-111958581 11:112087856-112087857
46 SDHD NM_003002.4(SDHD):c.304C>T (p.His102Tyr)SNV Likely pathogenic 846101 11:111959725-111959725 11:112089001-112089001
47 SDHD NM_003002.4(SDHD):c.52+2T>CSNV Likely pathogenic 663854 11:111957685-111957685 11:112086961-112086961
48 SDHD NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)SNV Likely pathogenic 230274 rs876658477 11:111965534-111965534 11:112094810-112094810
49 SDHD NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)SNV Conflicting interpretations of pathogenicity 218581 rs146276662 11:111958646-111958646 11:112087922-112087922
50 SDHB NM_003000.2(SDHB):c.65G>C (p.Cys22Ser)SNV Conflicting interpretations of pathogenicity 220915 rs141230910 1:17380450-17380450 1:17053955-17053955

Expression for Paraganglioma and Gastric Stromal Sarcoma

Search GEO for disease gene expression data for Paraganglioma and Gastric Stromal Sarcoma.

Pathways for Paraganglioma and Gastric Stromal Sarcoma

GO Terms for Paraganglioma and Gastric Stromal Sarcoma

Cellular components related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.46 RET PDGFRA KIT IGF1R
2 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

Biological processes related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.76 RET PDGFRA KIT IGF1R
2 positive regulation of protein kinase B signaling GO:0051897 9.71 RET PDGFRA KIT IGF1R
3 electron transport chain GO:0022900 9.7 SDHC SDHB SDHA
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.67 PDGFRA KIT IGF1R
5 peptidyl-tyrosine phosphorylation GO:0018108 9.67 RET PDGFRA KIT IGF1R
6 MAPK cascade GO:0000165 9.65 RET PDGFRA NF1 MEN1 KIT
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.62 RET PDGFRA KIT IGF1R
8 positive regulation of phospholipase C activity GO:0010863 9.51 PDGFRA KIT
9 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.48 RET NF1
10 positive regulation of kinase activity GO:0033674 9.46 RET PDGFRA KIT IGF1R
11 succinate metabolic process GO:0006105 9.43 SDHB SDHA
12 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHD SDHC SDHAF2 SDHA
13 tricarboxylic acid cycle GO:0006099 9.1 SDHD SDHC SDHB SDHAF2 SDHA FH

Molecular functions related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.56 RET PDGFRA KIT IGF1R
2 electron transfer activity GO:0009055 9.46 SDHD SDHC SDHB SDHA
3 ubiquinone binding GO:0048039 9.37 SDHD SDHB
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.32 SDHB SDHA
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 RET PDGFRA KIT IGF1R
6 succinate dehydrogenase activity GO:0000104 8.8 SDHD SDHC SDHA

Sources for Paraganglioma and Gastric Stromal Sarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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