PGGSS
MCID: PRG017
MIFTS: 63

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 57 20 58 72 13 70
Carney-Stratakis Syndrome 57 12 20 58 72 29 6 15
Paraganglioma and Gastrointestinal Stromal Tumor 57 20 72
Carney Dyad 20 58
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 20
Paraganglioma, Gastric Stromal Sarcoma 39
Gastrointestinal Stromal Tumors 70
Gist-Paraganglioma Dyad 58
Paraganglioma and Gist 20
Carney-Stratakis Dyad 58
Pggss 72

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® 57 606864
ICD10 via Orphanet 33 D44.8
UMLS via Orphanet 71 C1847319
Orphanet 58 ORPHA97286
MedGen 41 C1847319
UMLS 70 C0238198 C1847319

Summaries for Paraganglioma and Gastric Stromal Sarcoma

GARD : 20 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.

MalaCards based summary : Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to hereditary paraganglioma-pheochromocytoma syndromes and paragangliomas 1. An important gene associated with Paraganglioma and Gastric Stromal Sarcoma is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Endometrial cancer and MAPK signaling pathway. The drugs Sunitinib and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include liver, skin 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 : 72 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 223)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 30.9 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
2 paragangliomas 1 30.8 SDHD SDHC SDHB SDHA
3 glomus tumor 30.7 SDHD SDHB CD34
4 nonsyndromic paraganglioma 30.6 SDHB RET
5 gastrointestinal stromal tumor 30.3 SDHD SDHC SDHB SDHA PDGFRB PDGFRA
6 carney triad 30.2 SDHD SDHC SDHB SDHA PDGFRA KIT
7 neurofibromatosis 30.2 SDHD SDHB RET PDGFRA NF1
8 chondroma 29.8 SDHD SDHC SDHB SDHAF2 SDHA PDGFRA
9 gastric leiomyosarcoma 29.8 SDHD SDHC SDHB SDHAF2 SDHA PDGFRA
10 leiomyosarcoma 29.7 PDGFRB PDGFRA NF1 KIT FH
11 cowden syndrome 29.5 SDHD SDHC SDHB RET PRKAR1A NF1
12 von hippel-lindau syndrome 29.3 TMEM127 SDHD SDHC SDHB SDHAF2 RET
13 multiple endocrine neoplasia 29.2 SDHD SDHC SDHB RET PRKAR1A NF1
14 paraganglioma 28.1 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
15 pheochromocytoma 27.8 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
16 reticular perineurioma 10.4 PDGFRA KIT
17 laryngeal small cell carcinoma 10.4 PDGFRA KIT
18 paragangliomas 4 10.4
19 tumor predisposition syndrome 10.4
20 cutaneous telangiectasia and cancer syndrome, familial 10.4
21 inherited cancer-predisposing syndrome 10.4
22 pulmonary vein stenosis 10.4 PDGFRA KIT
23 esophageal adenoid cystic carcinoma 10.3 KIT ANO1
24 gastric hemangioma 10.3 KIT ANO1
25 vulvar melanoma 10.3 NF1 KIT
26 sm-ahnmd 10.3 PDGFRA KIT
27 prostate embryonal rhabdomyosarcoma 10.3 KIT IGF1R
28 mucinous stomach adenocarcinoma 10.3 KIT ANO1
29 subglottis benign neoplasm 10.3 SDHC SDHB NF1
30 endometrial small cell carcinoma 10.3 PDGFRA KIT
31 small intestinal sarcoma 10.3 PDGFRA KIT ANO1
32 neurofibromatosis, type ii 10.3 SDHD SDHB NF1
33 plexiform neurofibroma 10.3 PDGFRA NF1 KIT
34 leiomyoma cutis 10.3 SDHD FH
35 spinal cord sarcoma 10.2 KIT CD34
36 b-lymphoblastic leukemia/lymphoma with hypodiploidy 10.2 SDHA RET
37 gallbladder leiomyoma 10.2 KIT CD34
38 plethora of newborn 10.2 SDHD SDHB EGLN1
39 dermis tumor 10.2 SDHD SDHA FH
40 horner's syndrome 10.2 SDHD NF1
41 hereditary renal cell carcinoma 10.2 SDHB SDHA FH
42 mechanical ectropion 10.2 NF1 CD34
43 mucocele of appendix 10.2 KIT CD34
44 parasagittal meningioma 10.2 CD34 ANO1
45 gallbladder leiomyosarcoma 10.2 KIT CD34
46 angiomyoma 10.2 KIT CD34
47 benign fibrous mesothelioma 10.2 KIT CD34
48 epithelioid neurofibroma 10.2 NF1 CD34
49 sporadic pheochromocytoma/secreting paraganglioma 10.2 SDHD SDHB RET
50 retroperitoneal hemangiopericytoma 10.2 KIT CD34

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 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
4 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
5 cranial nerve paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006824
6 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
7 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
8 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
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 (Updated 05-Apr-2021)

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

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.79 MEN1
2 Decreased viability GR00173-A 10.79 PDGFRA
3 Decreased viability GR00221-A-1 10.79 IGF1R KIT NF1 PDGFRA PDGFRB PRKAR1A
4 Decreased viability GR00221-A-2 10.79 IGF1R NF1 PRKAR1A RET SDHD
5 Decreased viability GR00221-A-3 10.79 IGF1R PDGFRA PDGFRB PRKAR1A
6 Decreased viability GR00221-A-4 10.79 NF1 PDGFRA PDGFRB PRKAR1A RET SDHD
7 Decreased viability GR00240-S-1 10.79 SDHB
8 Decreased viability GR00249-S 10.79 ANO1 NF1 PDE11A PDGFRA SDHD
9 Decreased viability GR00301-A 10.79 IGF1R KIT RET
10 Decreased viability GR00342-S-1 10.79 PDGFRB
11 Decreased viability GR00342-S-2 10.79 IGF1R
12 Decreased viability GR00381-A-1 10.79 SDHD
13 Decreased viability GR00386-A-1 10.79 NF1 TMEM127
14 Decreased viability GR00402-S-2 10.79 EGLN1 IGF1R PDGFRA RET TMEM127
15 Decreased cell viability after pRB stimulation GR00230-A-1 8.85 PDGFRB
16 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:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.45 ANO1 CD34 EGLN1 FH IGF1R KIF1B
2 behavior/neurological MP:0005386 10.44 ANO1 IGF1R KIF1B KIT NF1 PDE11A
3 cellular MP:0005384 10.42 CD34 EGLN1 FH IGF1R KIT MEN1
4 growth/size/body region MP:0005378 10.4 ANO1 EGLN1 IGF1R KIF1B KIT MEN1
5 hematopoietic system MP:0005397 10.36 CD34 EGLN1 IGF1R KIF1B KIT NF1
6 embryo MP:0005380 10.33 EGLN1 IGF1R KIF1B KIT MEN1 NF1
7 mortality/aging MP:0010768 10.33 ANO1 EGLN1 FH IGF1R KIF1B KIT
8 cardiovascular system MP:0005385 10.32 ANO1 EGLN1 IGF1R KIT MEN1 NF1
9 endocrine/exocrine gland MP:0005379 10.28 IGF1R KIT MEN1 NF1 PDE11A PDGFRA
10 craniofacial MP:0005382 10.27 EGLN1 IGF1R KIF1B KIT MEN1 NF1
11 immune system MP:0005387 10.26 CD34 EGLN1 IGF1R KIT MEN1 NF1
12 digestive/alimentary MP:0005381 10.21 ANO1 IGF1R KIT MEN1 NF1 PDGFRA
13 integument MP:0010771 10.2 ANO1 CD34 EGLN1 IGF1R KIF1B KIT
14 muscle MP:0005369 10.15 ANO1 EGLN1 IGF1R KIF1B KIT MEN1
15 nervous system MP:0003631 10.07 ANO1 EGLN1 IGF1R KIF1B KIT MEN1
16 neoplasm MP:0002006 10.06 CD34 IGF1R KIT MEN1 NF1 PDGFRA
17 limbs/digits/tail MP:0005371 9.98 IGF1R KIF1B KIT NF1 PDGFRA PDGFRB
18 renal/urinary system MP:0005367 9.81 ANO1 EGLN1 FH KIT NF1 PDGFRA
19 respiratory system MP:0005388 9.61 ANO1 EGLN1 IGF1R KIF1B KIT NF1
20 skeleton MP:0005390 9.4 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 172)
# 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 6442177 70789204
3
Esomeprazole Approved, Investigational Phase 4 161973-10-0, 161796-78-7, 119141-88-7 4594 9568614
4
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
5
Caffeine Approved Phase 4 58-08-2 2519
6 Angiogenesis Inhibitors Phase 4
7 Imatinib Mesylate Phase 4 220127-57-1 123596
8 Protein Kinase Inhibitors Phase 4
9 Anti-Ulcer Agents Phase 4
10 Antacids Phase 4
11 Gastrointestinal Agents Phase 4
12 Proton Pump Inhibitors Phase 4
13 Anesthetics Phase 4
14
Erlotinib Hydrochloride Phase 4 183319-69-9 176871
15 Anti-Anxiety Agents Phase 4
16 Neurotransmitter Agents Phase 4
17 Central Nervous System Stimulants Phase 4
18 Psychotropic Drugs Phase 4
19 Hypnotics and Sedatives Phase 4
20 GABA Modulators Phase 4
21 Anesthetics, Intravenous Phase 4
22 Anesthetics, General Phase 4
23 Phosphodiesterase Inhibitors Phase 4
24
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
25
Lactitol Approved, Investigational Phase 2, Phase 3 585-86-4 157355
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 carnitine Phase 3
32 Hormones Phase 3
33 Calcium, Dietary Phase 3
34 Immunologic Factors Phase 3
35 Antineoplastic Agents, Immunological Phase 3
36 Antibodies Phase 3
37 Immunoglobulins Phase 3
38 Immunoglobulin G Phase 3
39 Immunoglobulins, Intravenous Phase 3
40 Antibodies, Monoclonal Phase 3
41 Endothelial Growth Factors Phase 3
42
Calcium Nutraceutical Phase 3 7440-70-2 271
43
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 5330286 11431660
44
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
45
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
46
Xylometazoline Approved, Investigational Phase 2 526-36-3 5709
47
Gemcitabine Approved Phase 2 95058-81-4 60750
48
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
49
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
50
Floxuridine Approved Phase 2 50-91-9 5790

Interventional clinical trials:

(show top 50) (show all 268)
# 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 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
5 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
6 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
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 Extension Protocol for Patients Previously Treated in Avapritinib Clinical Trials Not yet recruiting NCT04825574 Phase 4 Avapritinib
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 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
11 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 Unknown status NCT02576080 Phase 3 Imatinib
12 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
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 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
15 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
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 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 Completed NCT01694277 Phase 3 Masitinib;Sunitinib
18 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
19 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) Completed NCT03426722 Phase 3 L-carnitine;Placebo
20 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®
21 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
22 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
23 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
24 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
25 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
26 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
27 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)
28 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
29 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 Recruiting NCT04409223 Phase 3 Famitinib capsules;Sunitinib Capsules
30 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
31 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 Active, not recruiting NCT03673501 Phase 3 DCC-2618;Sunitinib
32 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
33 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 Active, not recruiting NCT02847429 Phase 3 Crenolanib;Placebo
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 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
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 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
39 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
40 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
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 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
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 Phase II Study on Preoperative Administration of Gleevec in Patients With Initially Non-Resectable Gastrointestinal Stromal Tumor Unknown status NCT00290485 Phase 2 Imatinib mesylate
45 A Randomised Phase II Trial of Imatinib Alternating With Regorafenib Compared to Imatinib Alone for the First Line Treatment of Advanced Gastrointestinal Stromal Tumour (GIST) Unknown status NCT02365441 Phase 2 Regorafenib;imatinib
46 Phase 2 Trial of Ponatinib in Patients With Metastatic and/or Unresectable Gastrointestinal Stromal Tumor (GIST) Following Failure or Intolerance of Prior Therapy With Imatinib Unknown status NCT03171389 Phase 2 Ponatinib 30 MG
47 A Phase II Single Arm Study Assessing Efficacy & Safety of Nivolumab Plus Ipilimumab in Nonresectable/Metastatic Sarcoma and Endometrial Carcinoma Patients With Somatic Deficient MMR as a Selection Tool Unknown status NCT02982486 Phase 2 Ipilimumab;Nivolumab
48 A Single Arm, Open Label, Multicenter, Phase II Study of Famitinib in Patients With Gastrointestinal Stromal Tumor Unknown status NCT02336724 Phase 2 Famitinib
49 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
50 Use of a Quick Skin Sealant in Prevention of Surgical Site Infection After Laparoscopic Tumor Resection Unknown status NCT02426762 Phase 2

Search NIH Clinical Center for Paraganglioma and Gastric Stromal Sarcoma

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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
Liver, Skin, Bone, Pancreas, Myeloid, Endothelial, Pituitary

Publications for Paraganglioma and Gastric Stromal Sarcoma

Articles related to Paraganglioma and Gastric Stromal Sarcoma:

(show top 50) (show all 126)
# 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. 57 61 6
17667967 2008
2
Familial gastrointestinal stromal tumors and germ-line mutations. 57 6
17804857 2007
3
Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: probable familial Carney syndrome. 6 57
15383933 2004
4
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 6 61
21173220 2011
5
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. 61 6
20098451 2010
6
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. 61 57
11857563 2002
7
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. 6
31492822 2020
8
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. 6
30050099 2019
9
The impact of variant classification on the clinical management of hereditary cancer syndromes. 6
29875428 2019
10
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. 6
29386252 2018
11
Cardiac paraganglioma with a novel germline mutation of succinate dehydrogenase gene D. 6
28977582 2017
12
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 6
27539324 2016
13
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 6
27279923 2016
14
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 6
26269449 2015
15
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 6
26008905 2015
16
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 6
25720320 2015
17
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 6
25494863 2015
18
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 6
25275255 2014
19
Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. 6
23902947 2013
20
Genetic testing in head and neck paraganglioma: who, what, and why? 6
24436918 2013
21
Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 6
23433498 2013
22
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 6
23512077 2013
23
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 6
23175444 2013
24
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 6
22382802 2012
25
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 6
22517554 2012
26
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 6
22241717 2012
27
The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. 6
22456618 2012
28
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 6
21348866 2012
29
Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas. 6
21945342 2012
30
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 6
21937622 2011
31
Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy. 6
22025150 2011
32
Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients? 6
21792967 2011
33
Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria. 6
20111059 2010
34
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 6
19802898 2010
35
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 6
19584903 2010
36
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 6
19825962 2009
37
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 6
19454582 2009
38
Genetics of pheochromocytoma and paraganglioma in Spanish patients. 6
19258401 2009
39
Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation. 6
19072999 2009
40
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. 6
19351833 2009
41
Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. 6
19075037 2009
42
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. 6
18826997 2008
43
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 6
18551016 2008
44
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. 6
18211978 2008
45
W43X SDHD mutation in sporadic head and neck paraganglioma. 6
18561749 2008
46
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. 6
17973943 2008
47
High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations. 6
17848412 2007
48
Systematic screening and treatment evaluation of hereditary neck paragangliomas. 6
17563904 2007
49
Novel SDHD germ-line mutations in pheochromocytoma patients. 6
17576205 2007
50
A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. 6
17406045 2007

Variations for Paraganglioma and Gastric Stromal Sarcoma

ClinVar genetic disease variations for Paraganglioma and Gastric Stromal Sarcoma:

6 (show top 50) (show all 318)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHC NM_003001.3(SDHC):c.405+1G>A SNV Pathogenic 7244 rs587776653 GRCh37: 1:161326631-161326631
GRCh38: 1:161356841-161356841
2 SDHB NM_003000.2(SDHB):c.423+1G>C SNV Pathogenic 12790 rs398122805 GRCh37: 1:17355094-17355094
GRCh38: 1:17028599-17028599
3 SDHD NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) SNV Pathogenic 239470 rs878854594 GRCh37: 11:111965575-111965575
GRCh38: 11:112094851-112094851
4 SDHD NM_003002.4(SDHD):c.242del (p.Pro81fs) Deletion Pathogenic 239464 rs878854591 GRCh37: 11:111959662-111959662
GRCh38: 11:112088938-112088938
5 SDHD NM_003002.4(SDHD):c.10dup (p.Leu4fs) Duplication Pathogenic 239460 rs878854589 GRCh37: 11:111957640-111957641
GRCh38: 11:112086916-112086917
6 SDHD NM_003002.4(SDHD):c.173del (p.Gly58fs) Deletion Pathogenic 239461 rs878854590 GRCh37: 11:111959593-111959593
GRCh38: 11:112088869-112088869
7 SDHD NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) SNV Pathogenic 412498 rs1060503770 GRCh37: 11:111965539-111965539
GRCh38: 11:112094815-112094815
8 SDHD NM_003002.4(SDHD):c.1A>G (p.Met1Val) SNV Pathogenic 6911 rs104894307 GRCh37: 11:111957632-111957632
GRCh38: 11:112086908-112086908
9 SDHD NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) SNV Pathogenic 6915 rs104894309 GRCh37: 11:111957664-111957664
GRCh38: 11:112086940-112086940
10 SDHD NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) SNV Pathogenic 438437 rs1050032491 GRCh37: 11:111965556-111965556
GRCh38: 11:112094832-112094832
11 SDHD NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) SNV Pathogenic 6913 rs104894308 GRCh37: 11:111958657-111958657
GRCh38: 11:112087933-112087933
12 SDHD NM_003002.4(SDHD):c.170-1G>T SNV Pathogenic 438434 rs1306475361 GRCh37: 11:111959590-111959590
GRCh38: 11:112088866-112088866
13 SDHD NM_003002.4(SDHD):c.305A>T (p.His102Leu) SNV Pathogenic 6898 rs104894302 GRCh37: 11:111959726-111959726
GRCh38: 11:112089002-112089002
14 SDHD NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) SNV Pathogenic 142068 rs587782210 GRCh37: 11:111958683-111958683
GRCh38: 11:112087959-112087959
15 SDHD NC_000011.10:g.(?_112094799)_(112094976_?)del Deletion Pathogenic 533799 GRCh37: 11:111965523-111965700
GRCh38: 11:112094799-112094976
16 SDHD NM_003002.4(SDHD):c.3G>A (p.Met1Ile) SNV Pathogenic 579968 rs80338842 GRCh37: 11:111957634-111957634
GRCh38: 11:112086910-112086910
17 SDHD NM_003002.4(SDHD):c.3G>C (p.Met1Ile) SNV Pathogenic 6906 rs80338842 GRCh37: 11:111957634-111957634
GRCh38: 11:112086910-112086910
18 SDHD NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) SNV Pathogenic 6897 rs80338845 GRCh37: 11:111959695-111959695
GRCh38: 11:112088971-112088971
19 SDHD NC_000011.10:g.(?_112088857)_(112094980_?)del Deletion Pathogenic 583435 GRCh37: 11:111959581-111965704
GRCh38: 11:112088857-112094980
20 SDHD NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) SNV Pathogenic 428939 rs1131691065 GRCh37: 11:111959735-111959735
GRCh38: 11:112089011-112089011
21 SDHD NM_003002.4(SDHD):c.13_14del (p.Trp5fs) Deletion Pathogenic 618362 rs1566690018 GRCh37: 11:111957644-111957645
GRCh38: 11:112086920-112086921
22 SDHD NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) SNV Pathogenic 6901 rs104894305 GRCh37: 11:111958623-111958623
GRCh38: 11:112087899-112087899
23 SDHD NC_000011.10:g.(?_112086898)_(112094980_?)del Deletion Pathogenic 584168 GRCh37: 11:111957622-111965704
GRCh38: 11:112086898-112094980
24 SDHD NC_000011.10:g.(?_112094795)_(112094980_?)del Deletion Pathogenic 584289 GRCh37: 11:111965519-111965704
GRCh38: 11:112094795-112094980
25 SDHD NC_000011.10:g.(?_112086902)_(112094975_?)del Deletion Pathogenic 832458 GRCh37: 11:111957626-111965699
GRCh38:
26 SDHD NC_000011.10:g.(?_112094795)_(112094970_?)del Deletion Pathogenic 832816 GRCh37: 11:111965519-111965694
GRCh38:
27 SDHD NM_003002.4(SDHD):c.147dup (p.His50fs) Duplication Pathogenic 231390 rs876659130 GRCh37: 11:111958674-111958675
GRCh38: 11:112087950-112087951
28 SDHD NM_003002.4(SDHD):c.204_205del (p.Ser68fs) Deletion Pathogenic 942473 GRCh37: 11:111959624-111959625
GRCh38: 11:112088900-112088901
29 SDHD NM_003002.4(SDHD):c.381del (p.Leu128fs) Deletion Pathogenic 438439 rs1555187601 GRCh37: 11:111965593-111965593
GRCh38: 11:112094869-112094869
30 SDHD NM_003002.4(SDHD):c.383_386dup (p.Leu129fs) Duplication Pathogenic 951786 GRCh37: 11:111965596-111965597
GRCh38: 11:112094872-112094873
31 SDHD NM_003002.4(SDHD):c.139C>T (p.Gln47Ter) SNV Pathogenic 959874 GRCh37: 11:111958667-111958667
GRCh38: 11:112087943-112087943
32 SDHD NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs) Indel Pathogenic 964700 GRCh37: 11:111958652-111958655
GRCh38: 11:112087928-112087931
33 SDHD NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) SNV Pathogenic 6900 rs104894304 GRCh37: 11:111965555-111965555
GRCh38: 11:112094831-112094831
34 SDHD NM_003002.4(SDHD):c.57del (p.Leu20fs) Deletion Pathogenic 6917 rs587776649 GRCh37: 11:111958585-111958585
GRCh38: 11:112087861-112087861
35 SDHB NM_003000.2(SDHB):c.72+1G>T SNV Pathogenic 142764 rs587782703 GRCh37: 1:17380442-17380442
GRCh38: 1:17053947-17053947
36 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) SNV Pathogenic 6893 rs80338843 GRCh37: 11:111958640-111958640
GRCh38: 11:112087916-112087916
37 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
38 SDHD NM_003002.4(SDHD):c.187_188TC[2] (p.Leu64fs) Microsatellite Pathogenic 6904 rs387906358 GRCh37: 11:111959608-111959609
GRCh38: 11:112088884-112088885
39 SDHD NM_003002.4(SDHD):c.57del (p.Leu20fs) Deletion Pathogenic 6917 rs587776649 GRCh37: 11:111958585-111958585
GRCh38: 11:112087861-112087861
40 SDHD NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) SNV Pathogenic 6903 rs104894306 GRCh37: 11:111958592-111958592
GRCh38: 11:112087868-112087868
41 SDHD NM_003002.4(SDHD):c.53dup (p.Leu19fs) Duplication Pathogenic 279889 rs886041237 GRCh37: 11:111958580-111958581
GRCh38: 11:112087856-112087857
42 SDHB NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) SNV Pathogenic 230243 rs876658461 GRCh37: 1:17350470-17350470
GRCh38: 1:17023975-17023975
43 SDHB NM_003000.2(SDHB):c.423+1G>A SNV Pathogenic 29896 rs398122805 GRCh37: 1:17355094-17355094
GRCh38: 1:17028599-17028599
44 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
45 SDHB NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) SNV Pathogenic 12778 rs74315366 GRCh37: 1:17359573-17359573
GRCh38: 1:17033078-17033078
46 SDHB NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) SNV Pathogenic 183793 rs772551056 GRCh37: 1:17371319-17371319
GRCh38: 1:17044824-17044824
47 SDHD NM_003002.4(SDHD):c.337_340del (p.Asp113fs) Deletion Pathogenic 6912 rs587776648 GRCh37: 11:111965548-111965551
GRCh38: 11:112094824-112094827
48 SDHD NM_003002.4(SDHD):c.1A>T (p.Met1Leu) SNV Pathogenic 422629 rs104894307 GRCh37: 11:111957632-111957632
GRCh38: 11:112086908-112086908
49 SDHD NM_003002.4(SDHD):c.92_93TC[1] (p.Ala33fs) Microsatellite Pathogenic 6908 rs397514034 GRCh37: 11:111958620-111958621
GRCh38: 11:112087896-112087897
50 SDHB NM_003000.2(SDHB):c.689G>A (p.Arg230His) SNV Pathogenic 142637 rs587782604 GRCh37: 1:17349179-17349179
GRCh38: 1:17022684-17022684

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

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 RET PDGFRB PDGFRA KIT IGF1R
2 12.61 PDGFRB PDGFRA NF1 KIT IGF1R
3
Show member pathways
12.57 PDGFRB PDGFRA NF1 KIT IGF1R
4 12.53 RET PDGFRB PDGFRA KIT IGF1R FH
5
Show member pathways
12.51 RET PDGFRB PDGFRA NF1 IGF1R
6
Show member pathways
12.35 PDGFRB PDGFRA NF1 IGF1R FH EGLN1
7
Show member pathways
12.16 PRKAR1A PDGFRB PDGFRA IGF1R
8
Show member pathways
12.13 SDHD SDHC SDHB SDHA FH
9 11.78 PDGFRB PDGFRA NF1 IGF1R
10 11.72 RET PDGFRB PDGFRA KIT IGF1R
11 11.69 PDGFRB PDGFRA EGLN1
12
Show member pathways
11.65 RET PDGFRB KIT
13 11.51 RET PDGFRB PDGFRA KIT
14
Show member pathways
11.47 SDHD SDHC SDHB SDHA FH
15
Show member pathways
11.39 PDGFRB PDGFRA KIT
16 11.31 PDGFRB PDGFRA IGF1R
17
Show member pathways
11.16 PDGFRB PDGFRA KIT
18
Show member pathways
11.03 SDHD SDHC SDHB SDHA FH
19 10.73 PDGFRB PDGFRA

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 integral component of plasma membrane GO:0005887 9.8 RET PDGFRB PDGFRA KIT IGF1R CD34
2 receptor complex GO:0043235 9.35 RET PDGFRB PDGFRA KIT IGF1R
3 respiratory chain complex II GO:0045273 9.16 SDHC SDHB
4 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 22)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.02 RET PRKAR1A PDGFRB PDGFRA KIT IGF1R
2 positive regulation of cell migration GO:0030335 9.88 RET PDGFRB PDGFRA KIT IGF1R
3 protein autophosphorylation GO:0046777 9.84 PDGFRB PDGFRA KIT IGF1R
4 positive regulation of protein kinase B signaling GO:0051897 9.83 RET PDGFRB PDGFRA KIT IGF1R
5 MAPK cascade GO:0000165 9.8 RET PDGFRB PDGFRA NF1 MEN1 KIT
6 wound healing GO:0042060 9.78 PDGFRB PDGFRA NF1
7 cell chemotaxis GO:0060326 9.77 PDGFRB PDGFRA KIT
8 electron transport chain GO:0022900 9.77 SDHC SDHB SDHA
9 peptidyl-tyrosine phosphorylation GO:0018108 9.77 RET PDGFRB PDGFRA KIT IGF1R
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 PDGFRB PDGFRA KIT IGF1R
11 phosphatidylinositol-mediated signaling GO:0048015 9.74 PDGFRB PDGFRA IGF1R
12 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.67 PDGFRB PDGFRA KIT
13 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.65 RET PDGFRB PDGFRA KIT IGF1R
14 cardiac myofibril assembly GO:0055003 9.58 PDGFRB PDGFRA
15 retina vasculature development in camera-type eye GO:0061298 9.58 PDGFRB PDGFRA
16 positive regulation of phospholipase C activity GO:0010863 9.58 PDGFRB PDGFRA KIT
17 succinate metabolic process GO:0006105 9.56 SDHB SDHA
18 positive regulation of kinase activity GO:0033674 9.55 RET PDGFRB PDGFRA KIT IGF1R
19 metanephric glomerular capillary formation GO:0072277 9.52 PDGFRB PDGFRA
20 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.51 PDGFRB PDGFRA
21 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHD SDHC SDHAF2 SDHA
22 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.47 SDHD SDHC SDHB SDHAF2 SDHA RET
2 protein kinase activity GO:0004672 9.88 RET PDGFRB PDGFRA KIT IGF1R
3 kinase activity GO:0016301 9.88 RET PRKAR1A PDGFRB PDGFRA KIT IGF1R
4 electron transfer activity GO:0009055 9.56 SDHD SDHC SDHB SDHA
5 protein tyrosine kinase activity GO:0004713 9.55 RET PDGFRB PDGFRA KIT IGF1R
6 platelet-derived growth factor receptor binding GO:0005161 9.51 PDGFRB PDGFRA
7 platelet-derived growth factor binding GO:0048407 9.46 PDGFRB PDGFRA
8 ubiquinone binding GO:0048039 9.43 SDHD SDHB
9 vascular endothelial growth factor binding GO:0038085 9.37 PDGFRB PDGFRA
10 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.32 SDHB SDHA
11 succinate dehydrogenase activity GO:0000104 9.13 SDHD SDHC SDHA
12 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.02 RET PDGFRB PDGFRA KIT IGF1R

Sources for Paraganglioma and Gastric Stromal Sarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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