GURDP
MCID: GST106
MIFTS: 65

Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets (GURDP)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

MalaCards integrated aliases for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

Name: Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 57 72 36 17
Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder 58 29 6
Deficiency of Phospholipase A2, Group Iva 72 29
Gurdp 57 72
Platelet Dysfunction Due to Cytosolic Phospholipase-A2 Alpha Deficiency 58
Phospholipase A2, Group Iva, Deficiency of 57
Pla2g4a-Related Platelet Dysfunction 58
Ulcer 44

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first years of life


HPO:

31
gastrointestinal ulceration, recurrent, with dysfunctional platelets:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare haematological diseases


External Ids:

OMIM® 57 618372
KEGG 36 H02504
Orphanet 58 ORPHA477787

Summaries for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

OMIM® : 57 Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa (summary by Adler et al., 2008 and Faioni et al., 2014). (618372) (Updated 20-May-2021)

MalaCards based summary : Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets, also known as cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder, is related to duodenal ulcer and peptic ulcer perforation. An important gene associated with Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets is PLA2G4A (Phospholipase A2 Group IVA), and among its related pathways/superpathways are Arachidonic acid metabolism and Phospholipase-C Pathway. The drugs carbamide peroxide and Saxagliptin have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and bone, and related phenotypes are gastric ulcer and duodenal ulcer

KEGG : 36 Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers and bleeding beginning at an early age. cPLA2 catalyzes the hydrolysis of phospholipids to arachidonic acid and lysophospholipids that are precursors of numerous bioactive lipids.

UniProtKB/Swiss-Prot : 72 Gastrointestinal ulceration, recurrent, with dysfunctional platelets: An autosomal recessive disorder characterized by recurrent gastrointestinal mucosal ulcers, gastrointestinal bleeding, chronic anemia, iron deficiency, and abdominal pain. Disease features also include platelet dysfunction, and globally decreased eicosanoid synthesis.

Related Diseases for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Diseases related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1569)
# Related Disease Score Top Affiliating Genes
1 duodenal ulcer 32.6 S100A8 HRH2 GAST
2 peptic ulcer perforation 32.5 S100A8 HRH2
3 decubitus ulcer 32.3 PDGFB FGF2
4 peptic ulcer disease 32.0 S100A8 PTGS2 PTGS1 HRH2 GAST
5 barrett esophagus 31.8 S100A8 PTGS2 GAST
6 active peptic ulcer disease 31.6 PTGS2 PTGS1 HRH2
7 zollinger-ellison syndrome 31.5 HRH2 GAST EGF
8 chronic ulcer of skin 31.5 PDGFB FGF2 EGF
9 duodenitis 31.2 S100A8 GAST
10 esophagitis 31.0 PTGS2 HRH2 GAST
11 hernia, hiatus 30.9 HRH2 GAST
12 gastritis 30.8 S100A8 PTGS2 PTGS1 HRH2 GAST
13 gastric ulcer 30.7 S100A8 PTGS2 PTGS1 HRH2 GAST FGF2
14 microinvasive gastric cancer 30.6 S100A8 GAST
15 peptic esophagitis 30.5 S100A8 PTGS2 HRH2 GAST
16 bile reflux 30.4 S100A8 PTGS2 GAST
17 atrophic gastritis 30.4 S100A8 PTGS2 GAST EGF
18 constipation 30.4 PTGS2 PTGS1 GAST
19 gastric adenocarcinoma 30.3 S100A8 PTGS2 GAST
20 cholecystitis 30.1 S100A8 EGF
21 stomach disease 29.9 PTGS2 PTGS1 HRH2
22 urticaria 29.7 PTGS2 PTGS1 HRH2
23 arthritis 29.5 PTGS2 PTGS1 PLA2G4A HRH2
24 gastroesophageal reflux 29.5 S100A8 PTGS2 PTGS1 HRH2 GAST EGF
25 laryngitis 29.4 HRH2 FGF2
26 duodenum disease 29.4 S100A8 GAST
27 aspirin resistance 29.3 PTGS2 PTGS1
28 gastric cancer 29.3 S100A8 PTGS2 HRH2 GAST FGF2 EGF
29 hemangioma 29.3 PDGFB GAST FGF2
30 skin carcinoma 29.1 PTGS2 PTGS1 FGF2 EGF
31 dry eye syndrome 29.0 S100A8 FGF2 EGF
32 diabetes mellitus 28.9 PTGS2 PTGS1 GAST FGF2 EGF
33 skin melanoma 28.8 PTGS2 FGF2 EGF
34 pancreatic adenocarcinoma 28.6 PTGS2 FGF2 EGF
35 glioma 28.4 PDGFB FGF2 EGF
36 medulloblastoma 28.2 PTGS2 PDGFB FGF2 EGF
37 disease of mental health 27.9 PTGS2 PTGS1 PLA2G4A HRH2 FGF2 EGF
38 buruli ulcer 11.7
39 corneal ulcer 11.6
40 gastrojejunal ulcer 11.6
41 ulcer of lower limbs 11.5
42 mooren's ulcer 11.4
43 helicobacter pylori infection 11.4
44 perforated corneal ulcer 11.3
45 central corneal ulcer 11.3
46 marginal corneal ulcer 11.3
47 aphthous stomatitis 11.2
48 mycotic corneal ulcer 11.2
49 chronic erosive gastritis 11.2
50 gastrocutaneous syndrome 11.2

Graphical network of the top 20 diseases related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:



Diseases related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets

Symptoms & Phenotypes for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Human phenotypes related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 gastric ulcer 31 HP:0002592
2 duodenal ulcer 31 HP:0002588
3 iron deficiency anemia 31 HP:0001891
4 esophageal ulceration 31 HP:0004791
5 impaired platelet aggregation 31 HP:0003540
6 decreased serum thromboxane b2 31 HP:0032244
7 decreased circulating 12-hete 31 HP:0032575

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
fistulas
mucosal ulceration, recurrent
duodenal ulcers
small bowel ulcers
esophageal ulcers

Laboratory Abnormalities:
decreased serum eicosanoids
decreased thromboxane-b2 (txb2)
decreased 12-hete

Hematology:
impaired platelet aggregation due to impaired thromboxane-a2 production
iron deficiency anemia, secondary

Clinical features from OMIM®:

618372 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.8 EGF GAST HRH2 PLA2G4A PTGS1 PTGS2
2 endocrine/exocrine gland MP:0005379 9.73 EGF GAST HRH2 PLA2G4A PTGS1 PTGS2
3 muscle MP:0005369 9.55 FGF2 PDGFB PLA2G4A PTGS1 PTGS2
4 neoplasm MP:0002006 9.35 FGF2 GAST PLA2G4A PTGS1 PTGS2
5 reproductive system MP:0005389 9.1 EGF FGF2 PDGFB PLA2G4A PTGS1 PTGS2

Drugs & Therapeutics for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Drugs for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 650)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 4 124-43-6
2
Saxagliptin Approved Phase 4 361442-04-8 11243969
3
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
4
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
5
Nitric Oxide Approved Phase 4 10102-43-9 145068
6
Rebamipide Approved, Investigational Phase 4 90098-04-7
7
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
8
Metronidazole Approved Phase 4 443-48-1 4173
9
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
10
Azithromycin Approved Phase 4 83905-01-5 55185 447043
11
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
12
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
13
Alprostadil Approved, Investigational Phase 4 745-65-3 149351 5280723
14
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
15
Sulpiride Approved, Investigational Phase 4 15676-16-1 5355
16
Somatostatin Approved, Investigational Phase 4 51110-01-1, 38916-34-6 53481605
17
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
18
Tazobactam Approved Phase 4 89786-04-9 123630
19
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
20
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
21
Aztreonam Approved Phase 4 78110-38-0 5362041 5742832
22
Piperacillin Approved Phase 4 66258-76-2 43672
23
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
24
Sucralfate Approved Phase 4 54182-58-0
25
Terlipressin Approved, Investigational Phase 4 14636-12-5 72081
26
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
27
Ofloxacin Approved Phase 4 82419-36-1 4583
28
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
29
Mercaptopurine Approved Phase 4 50-44-2 667490
30
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
31
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
32
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
33
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
34
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
35
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
36
Nicotine Approved Phase 4 54-11-5 942 89594
37
Ustekinumab Approved, Investigational Phase 4 815610-63-0
38
Certolizumab pegol Approved Phase 4 428863-50-7
39
Magnesium citrate Approved Phase 4 3344-18-1
40
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
41
Clarithromycin Approved Phase 4 81103-11-9 84029
42
Tofacitinib Approved, Investigational Phase 4 477600-75-2
43
Estazolam Approved, Illicit Phase 4 29975-16-4 3261
44
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
45
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
46
Insulin glargine Approved Phase 4 160337-95-1
47
Famotidine Approved Phase 4 76824-35-6 3325
48
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
49
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
50
Dimenhydrinate Approved Phase 4 523-87-5 441281

Interventional clinical trials:

(show top 50) (show all 2621)
# Name Status NCT ID Phase Drugs
1 A Controlled Clinical Trial of Dipeptidyl Peptidase 4 Inhibition Facilitate Healing of Diabetic Ulcers Unknown status NCT02742233 Phase 4 saxagliptin;placebo
2 Does Early Re-administration of Aspirin/Clopidogrel Increase the Risk of Bleeding From Artificial Ulcer After EMR or ESD? Unknown status NCT01621451 Phase 4 aspirin and/or clopidogrel;aspirin and/or clopidogrel
3 Phase IV Study Comparing Helicobacter Pylori Empiric Eradication With Test-Guided Treatment in Patients With Peptic Ulcer Bleeding Unknown status NCT00687336 Phase 4
4 A Monocentric, Comparative and Randomized Study on Pressure Ulcers Prevention With Mepilex® Border Sacrum Dressing in Scheduled Cardiovascular Surgery Unknown status NCT03823963 Phase 4
5 An Open Label, Multi Center, Post Marketing Study Of Pain And Quality Of Life Outcomes In Subjects With a Single Painful Venous Leg Ulcer Treated With Apligraf® Unknown status NCT02011724 Phase 4
6 Evaluation of the Efficacy of Concomitant Therapy for Eradication of Helicobacter Pylori Unknown status NCT01922765 Phase 4 amoxicillin, clarithromycin, metronidazole, rabeprazole
7 Maggot Debridement Therapy Versus Conventional Dressing Therapy to Treat Type 2 Diabetic Mellitus Foot Ulcers: A Prospective Randomized Controlled Study Unknown status NCT02816749 Phase 4
8 Olive Oil's Cream Effectiveness in Prevention of Pressure Ulcers in Immobilized Patients in Primary Care.A Cluster Randomized Clinical Trial. Unknown status NCT01595347 Phase 4 Hyper-oxigenated fatty acid
9 A 12-week, Single Site, Randomized Controlled Trial to Compare the Efficacy of Quantum NPWT With and Without Simultaneous Irrigation Versus Standard of Care on Reduction of the Volume of Stage III/IV Pressure Ulcers. Unknown status NCT01734109 Phase 4
10 Helicobacter Pylori Eradication Therapy on the Healing of Iatrogenic Gastric Ulcer After Endoscopic Mucosal Resection of Gastric Neoplastic Lesions: a Multicenter, Randomized, Double Blind, and Placebo Controlled Trial Unknown status NCT00926809 Phase 4 Lansoprazole (proton pump inhibitor), amoxicillin, clarythromycin;Lansoprazole (proton pump inhibitor), placebo
11 A Prospective Single Blind Randomised Controlled Study to Compare the Outcomes of Patients With Diabetes and Clinically Non-infected Neuro-ischaemic and Neuropathic Foot Ulcers Treated With and Without Oral Antibiotics. Unknown status NCT01418456 Phase 4 antibiotics
12 A Comparison of Total Contact Casting (TCC-EZ) Using Human Amnion Allograft (AmnioExcel) Versus Total Contact Casting (TCC-EZ) and Standard Wound Care in Treating Diabetic Foot Ulcers (TAD) Unknown status NCT02344329 Phase 4
13 Compare Gastric Acid Suppression of Esomeprazole by Oral or Intravenous Administration - A Randomized Trial Unknown status NCT00471029 Phase 4 esomeprazole
14 Phase IV Prospective, Multi-Center, Randomized, Single-Blind, Active and Standard Care-Controlled Study of DermaPure™ in Patients With "Hard to Heal" Chronic, Neuropathic Diabetic Foot Ulcers With Crossover Design for Standard Care Arm Unknown status NCT02081352 Phase 4
15 Efficacy of an Ecabet Sodium and Proton Pump Inhibitor (PPI) Combination Therapy in the Treatment of Iatrogenic Ulcer After Endoscopic Submucosal Dissection: A Prospective Randomized Controlled Trial Unknown status NCT01308177 Phase 4 Ecabet
16 A Double Blind Study Comparing Low Dose and High Dose IV Esomeprazole After Successful Endoscopic Therapy in Patients With Peptic Ulcer Bleeding Unknown status NCT01275937 Phase 4 Esomeprazole;esomeprazole
17 Esomeprazole or Famotidine in the Management of Aspirin Related Non-ulcer Dyspepsia - a Double Blind Randomized Control Study Unknown status NCT00978159 Phase 4 esomeprazole;Famotidine
18 Effectiveness Comparison Between the Use of Skin Micro-grafts vs Meshed Split Thickness Skin Grafts in Cutaneous Defects: A Randomized Controlled Clinical Trial Unknown status NCT02813213 Phase 4
19 A Study to Evaluate the Pharmacokinetics of Adalimumab in Combination With Methotrexate for the Treatment of Patients With Ulcerative Colitis Unknown status NCT01716039 Phase 4 MTX 12.5;MTX 25;Adalimumab
20 Santeon InflixMab biosimILAr Research A Randomized, Controlled, Double Blind, Phase 4 Noninferiority Trial to Assess Efficacy of Infliximab-biosimilar (Inflectra) Compared to Infliximab-innovator (Remicade) in Patients With Inflammatory Bowel Disease in Remission. Unknown status NCT02452151 Phase 4 Infliximab-Biosimilar;Infliximab-Innovator
21 Optimization of Golimumab Treatment in Ulcerative Colitis Unknown status NCT03669029 Phase 4 Golimumab 50 mg in patients <80 kg and Golimumab 100 mg in patients >80 kg;Golimumab treatment optimization.
22 Pilot Study to Evaluate the Efficacy of Golimumab for Induction and Maintenance of Clinical and Endoscopic Remission in Patients With Steroid-dependent Ulcerative Colitis Unknown status NCT02412085 Phase 4 Golimumab
23 Manipulating the Microbiome in IBD by Antibiotics and Fecal Microbiota Transplantation (FMT): a Randomized Controlled Trial Unknown status NCT02033408 Phase 4 AB (antibiotics);CS (corticosteroids) Only
24 A Prospective Multi-centric Belgian Trial to Validate the Use of Golimumab Serum Level Analysis Using the Dried Blood Spot (DBS) Methodology Unknown status NCT02910375 Phase 4
25 Combination Corticosteroids + 5-aminosalicylic Acids Compared to Corticosteroids Alone in the Treatment of Moderate-severe Active Ulcerative Colitis. Unknown status NCT01941589 Phase 4 oral 5-ASA+/-topical 5-ASA+IV corticosteroids / PO Methylprednisolone;corticosteroids only
26 Fecal Microbiota Transplantation for Ulcerative Colitis Through Colonic Transendoscopic Enteral Tubing Unknown status NCT02998112 Phase 4 fecal microbiota transplantation;Saline
27 Personalised Medicine: a Break Through Approach for Early Determination of Anti Tumor Necrosis Factor (TNF) Responders and Non Responders Among Patients With Ulcerative Colitis in a Prospective Study With Golimumab (Simponi) Unknown status NCT02186886 Phase 4 Golimumab
28 Efficacy of Treatment With Berberine to Maintain Remission in Ulcerative Colitis: An Open-label,Randomized,Phase IV Clinical Trial Unknown status NCT02962245 Phase 4 berberine;regular treatment
29 A Randomized, Double-blind Study Investigating the Efficacy and Safety of Mesalazine With Hydrocortisone Sodium Succinate (100mg QD) Enema for 4-Week Treatment in Patients With Ulcerative Colitis (UC) Unknown status NCT03110198 Phase 4 Mesalazine;hydrocortisone sodium succinate;Mesalazine with hydrocortisone sodium succinate
30 Probiotic for the Restoration of Intestinal Permeability and Reduction of Intestinal Inflammation in Active Ulcerative Colitis: A Double Blind Randomized Placebo Controlled Trial Unknown status NCT01479660 Phase 4 Probiotic
31 Comparison Between Two Therapeutic Strategies for the Maintenance of Clinical and Endoscopic Remission in Patients With Ulcerative Colitis Treated by Infliximab Unknown status NCT03151525 Phase 4 Azathioprine;Infliximab
32 The Safety and Efficacy of Albis®: The Prevention of Aspirin-induced Gastrointestinal Ulcers in Patients Taking Low-dose Aspirin, A Pilot Study Unknown status NCT01397240 Phase 4 Albis Tab;Placebo
33 GLM Dose Optimisation to Adequate Levels to Achieve Response in Colitis (GOAL-ARC). A Nationwide Multi-centred Randomised Controlled Trial (RCT) Investigating the Use of GLM Dose Adjustment in Ulcerative Colitis (UC). Unknown status NCT02687724 Phase 4 Golimumab (GLM)
34 Standard Management and Chlorhexidine Gluconate Solution at 0.125% Versus Standard Management and Physiological Saline Sterile Solution for Healing Grade IIB Ulcers in Diabetic Foot Syndrome: Clinical Trial Unknown status NCT03209466 Phase 4 Chlorhexidine gluconate at 0.125%;Placebo Comparator with physiological saline sterile solution
35 Protective Effect of ALBIS on Gastroduodenal Mucosal Injury in Patients Receiving Dual Antiplatelet Therapy After Percutaneous Coronary Intervention Unknown status NCT02175186 Phase 4 ALBIS;Placebo
36 A Randomized, Blinded, Placebo-Controlled Study of the Effect of Naproxen, Aspirin, Celecoxib, or Clopidogrel on Gastroduodenal Healing Completed NCT00778193 Phase 4 Naproxen;Aspirin;Celecoxib;Clopidogrel;Placebo
37 Comparison of Esomeprazole and Famotidine for Stress Ulcer Prophylaxis in Neurosurgical Intensive Care Unit Completed NCT00633035 Phase 4 esomeprazole 40 mg;famotidine 20 mg
38 Effectiveness of Topical Negative Handicraft Device for Versus Traditional Conservative Treatment in Skin Ulcers Management in Lower Limb Completed NCT02512159 Phase 4
39 The Effect of Neuromuscular Electrical Therapy on Pain in Patients With Venous Ulcers: a Controlled Clinical Trial Completed NCT01372020 Phase 4
40 A Double-blind, Comparative, Superiority, Multi-centre Investigation Evaluating the Efficacy of an Absorbent Foam Dressing Containing Silver (Mepilex Ag) Versus the Same Dressing Without Silver Used on Subjects With Venous Leg Ulcers or Mixed Ulcers Completed NCT01036438 Phase 4
41 Ivision of Gastroenterology, Department of Internal Medicine, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan Completed NCT02241044 Phase 4
42 The Feasibility of Fast-track Surgery for Perforated Peptic Ulcers. A Prospective Randomized Clinical Trial Completed NCT01620671 Phase 4
43 Clinical Outcomes Associated With Enzymatic Debridement of Diabetic Foot Ulcers for Up To 12 Weeks With Clostridial Collagenase (Santyl®) Ointment Completed NCT02111291 Phase 4
44 The Studies of the Pathophysiologic Mechanisms of Poor Ulcer Healing & Clinical Improvement to the High Ulcer Rebleeding Rate for Patients With Comorbid Illnesses Completed NCT01591083 Phase 4 esomeprazole (Nexium®, AstraZeneca AB, Södertälje, Sweden)
45 The Therapeutic Role of Albumin Supply on Peptic Ulcer Bleeding and the Correlation Between Clinical Course and Expression of Serum Response Factor on Ulcer Tissue and Superoxide Free Radical in Blood Completed NCT01822600 Phase 4 Human albumin;Omeprazole
46 LeucoPatch in the Management of Hard-to-heal Diabetic Foot Ulcers Completed NCT02224742 Phase 4
47 Evaluation Of The Efficacy, Tolerance And Acceptability Of URGO Dressing 310 3082 Versus A Hydrofibre Dressing In The Local Management Of Venous Or Predominantly Venous Mixed Leg Ulcers Completed NCT01449422 Phase 4
48 A Prospective, Comparative, Single-centre Clinical Evaluation to Investigate the Skin-to-skin Time of the First Surgical Debridement of Lower Extremity Ulcers With VERSAJET™ Hydrosurgery System and Conventional Debridement Techniques. Completed NCT00521027 Phase 4
49 Secondary Prevention With Long-term Oral Esomeprazole for Peptic Ulcer Recurrence and Rebleeding in High-risk Rockall Scores ≥ 6 Patients Completed NCT02456012 Phase 4 oral esomeprazole 20 mg twice daily;oral esomeprazole 20 mg once daily
50 A Prospective, Multi-centre, Randomized, Open-label, Parallel, Comparative Study to Evaluate Effects of AQUACEL® Ag Dressing and Urgotul® Silver Dressing on Healing of Chronic Venous Leg Ulcers Completed NCT01084577 Phase 4

Search NIH Clinical Center for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets

Cochrane evidence based reviews: ulcer

Genetic Tests for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Genetic tests related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

# Genetic test Affiliating Genes
1 Deficiency of Phospholipase A2, Group Iva 29
2 Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder 29 PLA2G4A

Anatomical Context for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

MalaCards organs/tissues related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

40
Skin, Spinal Cord, Bone, Liver, Colon, Bone Marrow, Pancreas

Publications for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Articles related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

(show top 50) (show all 30269)
# Title Authors PMID Year
1
Bleeding diathesis and gastro-duodenal ulcers in inherited cytosolic phospholipase-A2 alpha deficiency. 57 6
25102815 2014
2
Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. 57 6
23268370 2014
3
Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction. 57 6
18451993 2008
4
DNA methylation patterns of ulcer-healing genes associated with the normal gastric mucosa of gastric cancers. 54 61
20191040 2010
5
[Effect of yiqi huoxue formula on healing quality and recurrence rate of peptic ulcer]. 61 54
20214327 2009
6
Clinical efficacy of basic fibroblast growth factor (bFGF) for diabetic ulcer. 54 61
19638336 2009
7
vacA genotypes in Helicobacter pylori strains isolated from patients with and without duodenal ulcer in Bahrain. 54 61
20107966 2009
8
[Effect of transcranial electrostimulation on clinical and laboratory characteristics in patients with gastric ulcer]. 61 54
19708562 2009
9
[Six cases with Behcet's disease presenting cervical ulcer]. 54 61
19570421 2009
10
Multiplexed analysis of matrix metalloproteinases in leg ulcer tissue of patients with chronic venous insufficiency before and after compression therapy. 61 54
19128259 2008
11
Induction of MMP-1, MMP-3 and TIMP-1 in normal dermal fibroblasts by chronic venous leg ulcer wound fluid*. 54 61
18336381 2008
12
[Quantity research on epidermal growth factor in saliva and epidermal growth factor receptor in biopsy samples of recurrent aphthous ulcer patients]. 54 61
18357880 2008
13
Microevolution of Helicobacter pylori type IV secretion systems in an ulcer disease patient over a ten-year period. 54 61
17942650 2007
14
[Observation on the expression of PS2 and platelet activating factor affected by Jianwei Yuyang granules and study its potential mechanisim against peptic ulcer]. 61 54
18422199 2007
15
Effect of genital ulcer disease on HIV-1 coreceptor expression in the female genital tract. 61 54
18008231 2007
16
[Comparison of the burn wound and diabetic ulcer wound]. 61 54
18396758 2007
17
[Genetic polymorphism of COX-1 gene and NSAID-induced ulcer]. 61 54
17926541 2007
18
The use of recombinant human epidermal growth factor to promote healing for chronic radiation ulcer. 54 61
17924878 2007
19
[Clinical study on effect of Jianwei Yuyang Granule in treating patients with gastric ulcer]. 61 54
17717918 2007
20
Combination of a cyclo-oxygenase-2 inhibitor and a proton-pump inhibitor for prevention of recurrent ulcer bleeding in patients at very high risk: a double-blind, randomised trial. 61 54
17499604 2007
21
Restriction fragment length polymorphism of virulence genes cagA, vacA and ureAB of Helicobacter pylori strains isolated from Iranian patients with gastric ulcer and nonulcer disease. 61 54
17457472 2007
22
Helicobacter pylori cagA and iceA genotypes status and risk of peptic ulcer in Saudi patients. 54 61
17334464 2007
23
Peptic ulcer and bleeding events associated with rofecoxib in a 3-year colorectal adenoma chemoprevention trial. 61 54
17258718 2007
24
Gastric mucosal levels of prostaglandins and leukotrienes in patients with gastric ulcer after treatment with rabeprazole in comparison to treatment with ranitidine. 61 54
17380018 2007
25
Primer: managing NSAID-induced ulcer complications--balancing gastrointestinal and cardiovascular risks. 54 61
17008926 2006
26
Therapeutic outcome of hyperbaric oxygen and basic fibroblast growth factor on intractable skin ulcer in legs: preliminary report. 54 61
16462352 2006
27
Regulated spatial distribution of cyclooxygenases and lipoxygenases in Crohn's ulcer. 61 54
16951496 2006
28
Recent advances in gastric ulcer therapeutics. 61 54
16188503 2005
29
Celecoxib compared with lansoprazole and naproxen to prevent gastrointestinal ulcer complications. 61 54
16271912 2005
30
Cellular and molecular mechanisms of gastrointestinal ulcer healing. 54 61
16184417 2005
31
Prostaglandins and ulcer healing. 54 61
16247187 2005
32
An overview of acetic acid ulcer models--the history and state of the art of peptic ulcer research. 54 61
16079471 2005
33
Correlation of the Helicobacter pylori adherence factor BabA with duodenal ulcer disease in four European countries. 54 61
15866209 2005
34
Microsomal prostaglandin E synthase (mPGES)-1, mPGES-2 and cytosolic PGES expression in human gastritis and gastric ulcer tissue. 54 61
15531909 2005
35
Keratinocyte and dermal vascular endothelial cell capacities remain unimpaired in the margin of chronic venous ulcer. 54 61
15565301 2005
36
Expression patterns of transforming growth factor-beta and its receptors in gastric mucosa of patients with refractory gastric ulcer. 54 61
15609413 2005
37
Eosinophil infiltration, gastric juice and serum eosinophil cationic protein levels in Helicobacter pylori-associated chronic gastritis and gastric ulcer. 54 61
15770055 2004
38
Distribution of vacA alleles and cagA status of Helicobacter pylori in peptic ulcer disease and non-ulcer dyspepsia. 54 61
15606640 2004
39
Three cases of ischemic ulcer due to arteriosclerosis obliterans responding to basic fibroblast growth factor spray. 54 61
15372302 2004
40
Ulcer formation with low-dose enteric-coated aspirin and the effect of COX-2 selective inhibition: a double-blind trial. 61 54
15300570 2004
41
Serum response factor promotes re-epithelialization and muscular structure restoration during gastric ulcer healing. 61 54
15188176 2004
42
[Are COX-2 inhibitors truly able to prevent NSAIDs-associated ulcer?]. 61 54
15038104 2004
43
Have COX-2 inhibitors influenced the co-prescription of anti-ulcer drugs with NSAIDs? 61 54
14998430 2004
44
Polymorphisms and the pocketbook: the cost-effectiveness of cytochrome P450 2C19 genotyping in the eradication of Helicobacter pylori infection associated with duodenal ulcer. 61 54
14615467 2003
45
Biphasic role of platelet-activating factor in oral mucosal ulcer healing. 54 61
14609204 2003
46
Basic fibroblast growth factor and epidermal growth factor reverse impaired ulcer healing of the rabbit oral mucosa. 61 54
12787043 2003
47
Serum positive cagA in patients with non-ulcer dyspepsia and peptic ulcer disease from two centers in different regions of Turkey. 61 54
12679943 2003
48
The cathelicidin anti-microbial peptide LL-37 is involved in re-epithelialization of human skin wounds and is lacking in chronic ulcer epithelium. 54 61
12603850 2003
49
A therapy-resistant chronic leg ulcer treated successfully with topical basic fibroblast growth factor. 61 54
12760319 2003
50
Effect of rebamipide on acetic acid-induced gastric ulcer in rats: involvement of hepatocyte growth factor. 61 54
12678329 2003

Variations for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

ClinVar genetic disease variations for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLA2G4A NM_024420.2(PLA2G4A):c.331T>C (p.Ser111Pro) SNV Pathogenic 9079 rs121434634 GRCh37: 1:186863296-186863296
GRCh38: 1:186894164-186894164
2 PLA2G4A NM_024420.2(PLA2G4A):c.1454G>A (p.Arg485His) SNV Pathogenic 9080 rs121434635 GRCh37: 1:186925351-186925351
GRCh38: 1:186956219-186956219
3 PLA2G4A NM_024420.2(PLA2G4A):c.1723G>C (p.Asp575His) SNV Pathogenic 624621 rs1557895416 GRCh37: 1:186934684-186934684
GRCh38: 1:186965552-186965552
4 PLA2G4A NM_024420.2(PLA2G4A):c.2118+4_2118+7del Deletion Pathogenic 624622 rs1557901999 GRCh37: 1:186948605-186948608
GRCh38: 1:186979473-186979476
5 PLA2G4A NM_001311193.2(PLA2G4A):c.378+17114dup Duplication Pathogenic 807464 rs1571392612 GRCh37: 1:186880456-186880457
GRCh38: 1:186911324-186911325

UniProtKB/Swiss-Prot genetic disease variations for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

72
# Symbol AA change Variation ID SNP ID
1 PLA2G4A p.Asp575His VAR_082091 rs155789541

Expression for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Search GEO for disease gene expression data for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets.

Pathways for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Pathways related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets according to KEGG:

36
# Name Kegg Source Accession
1 Arachidonic acid metabolism hsa00590

Pathways related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets according to GeneCards Suite gene sharing:

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 PLA2G4A PDGFB FGF2 EGF
2
Show member pathways
12.83 PTGS2 PDGFB FGF2 EGF
3
Show member pathways
12.79 PTGS2 PTGS1 PLA2G4A PDGFB EGF
4
Show member pathways
12.77 PTGS2 PDGFB FGF2 EGF
5 12.62 PTGS2 PDGFB FGF2 EGF
6 12.53 PLA2G4A PDGFB FGF2 EGF
7
Show member pathways
12.48 PLA2G4A PDGFB FGF2 EGF
8
Show member pathways
12.3 PDGFB FGF2 EGF
9
Show member pathways
12.21 PLA2G4A GAST EGF
10
Show member pathways
12.21 PLA2G4A PDGFB EGF
11
Show member pathways
12.21 PTGS2 PTGS1 PLA2G4A
12
Show member pathways
12.13 PTGS2 HRH2 EGF
13 12 PDGFB HRH2 FGF2 EGF
14
Show member pathways
11.99 PTGS2 PTGS1 PLA2G4A
15
Show member pathways
11.93 PLA2G4A PDGFB EGF
16 11.85 PDGFB FGF2 EGF
17 11.76 PTGS2 PTGS1 PLA2G4A
18
Show member pathways
11.75 PTGS2 PTGS1 PLA2G4A
19 11.65 PDGFB FGF2 EGF
20 11.54 PDGFB FGF2 EGF
21 11.53 PDGFB FGF2 EGF
22 11.38 PTGS1 PLA2G4A
23 11.38 PDGFB FGF2 EGF
24 11.37 PTGS2 PLA2G4A
25 11.31 PTGS2 PTGS1 PLA2G4A
26 11.18 PTGS2 PLA2G4A
27 11.11 PDGFB FGF2 EGF
28
Show member pathways
11.05 PTGS2 PTGS1
29 11 PTGS2 PTGS1
30 10.99 PDGFB FGF2
31 10.97 PTGS2 PTGS1
32 10.97 PDGFB FGF2 EGF
33 10.86 PTGS2 PTGS1
34 10.74 PTGS2 PTGS1
35 10.61 PTGS2 PTGS1 PLA2G4A
36 10.25 PTGS2 PTGS1 PLA2G4A
37 10.13 HRH2 GAST

GO Terms for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Biological processes related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.83 PTGS2 PDGFB FGF2 EGF
2 MAPK cascade GO:0000165 9.79 PDGFB FGF2 EGF
3 angiogenesis GO:0001525 9.77 PTGS2 FGF2 EGF
4 regulation of cell proliferation GO:0042127 9.73 PTGS2 PTGS1 PLA2G4A
5 fatty acid metabolic process GO:0006631 9.72 PTGS2 PTGS1 PLA2G4A
6 positive regulation of protein kinase B signaling GO:0051897 9.71 PDGFB FGF2 EGF
7 positive regulation of MAPK cascade GO:0043410 9.67 PDGFB FGF2 EGF
8 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.64 PDGFB FGF2
9 positive regulation of blood vessel endothelial cell migration GO:0043536 9.63 PDGFB FGF2
10 positive regulation of cell division GO:0051781 9.63 PDGFB FGF2
11 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.63 PDGFB FGF2 EGF
12 positive chemotaxis GO:0050918 9.62 PDGFB FGF2
13 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.61 PDGFB FGF2
14 positive regulation of protein tyrosine kinase activity GO:0061098 9.61 PDGFB EGF
15 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.59 PTGS2 FGF2
16 positive regulation of vasoconstriction GO:0045907 9.58 PTGS2 HRH2
17 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.58 PDGFB FGF2
18 fatty acid biosynthetic process GO:0006633 9.58 PTGS2 PTGS1 PLA2G4A
19 positive regulation of mitotic nuclear division GO:0045840 9.57 PDGFB EGF
20 positive regulation of endothelial cell proliferation GO:0001938 9.54 PDGFB FGF2 EGF
21 positive regulation of DNA biosynthetic process GO:2000573 9.51 PDGFB FGF2
22 positive regulation of MAP kinase activity GO:0043406 9.5 PDGFB FGF2 EGF
23 cyclooxygenase pathway GO:0019371 9.48 PTGS2 PTGS1
24 paracrine signaling GO:0038001 9.43 PDGFB FGF2
25 positive regulation of epithelial tube formation GO:1905278 9.26 FGF2 EGF
26 positive regulation of hyaluronan biosynthetic process GO:1900127 9.16 PDGFB EGF
27 prostaglandin metabolic process GO:0006693 9.13 PTGS2 PTGS1 PLA2G4A
28 prostaglandin biosynthetic process GO:0001516 8.8 PTGS2 PTGS1 PLA2G4A

Molecular functions related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxidase activity GO:0004601 9.26 PTGS2 PTGS1
2 chemoattractant activity GO:0042056 9.16 PDGFB FGF2
3 growth factor activity GO:0008083 9.13 PDGFB FGF2 EGF
4 prostaglandin-endoperoxide synthase activity GO:0004666 8.62 PTGS2 PTGS1

Sources for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....