IBD1
MCID: INF071
MIFTS: 66

Inflammatory Bowel Disease 1 (IBD1)

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

Aliases & Classifications for Inflammatory Bowel Disease 1

MalaCards integrated aliases for Inflammatory Bowel Disease 1:

Name: Inflammatory Bowel Disease 1 57 74
Inflammatory Bowel Disease 1 12 74 29 6 15
Crohn Disease 74 37 6 72
Crohn Disease-Associated Growth Failure 57 74 13
Ibd1 57 12 74
Crohn Disease-Associated Growth Failure, Susceptibility to 29 6
Inflammatory Bowel Disease 1, Crohn Disease 57 29
Ulcerative Colitis 74 72
Regional Enteritis 74 72
Bowel Disease, Inflammatory, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
multifactorial

Miscellaneous:
genetic heterogeneity
5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis)
35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis)


HPO:

32
inflammatory bowel disease 1:
Inheritance multifactorial inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110892
KEGG 37 H00286
UMLS 72 C0009324 C0010346 C0678202

Summaries for Inflammatory Bowel Disease 1

UniProtKB/Swiss-Prot : 74 Inflammatory bowel disease 1: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.

MalaCards based summary : Inflammatory Bowel Disease 1, also known as inflammatory bowel disease 1, is related to ileitis and inflammatory bowel disease 2, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Inflammatory Bowel Disease 1 is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Cytokine-cytokine receptor interaction. The drugs Tocopherol and Zinc have been mentioned in the context of this disorder. Affiliated tissues include colon, bone and small intestine, and related phenotypes are abdominal pain and weight loss

Disease Ontology : 12 An inflammatory bowel disease that has material basis in mutations in the NOD2 gene on chromosome 16q12.1.

KEGG : 37
Crohn disease is a chronic, relapsing inflammatory bowel disease characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small intestine, but the other area of gastrointestinal tract may also be affected. In Western populations, over 50% of patients possess NOD2 mutations. Evidence exists that the NOD2 polymorphisms impair NF-kappaB activation and cytokine secretion in response to its ligand. The pathogenesis of Crohn's disease is also attributed to intestinal bacteria that may initiate mucosal inflammation in genetically susceptible individuals. Additional genes associated with the disease are recently being identified.

More information from OMIM: 266600 PS266600

Related Diseases for Inflammatory Bowel Disease 1

Diseases in the Inflammatory Bowel Disease family:

Inflammatory Bowel Disease 11 Inflammatory Bowel Disease 1
Inflammatory Bowel Disease 2 Inflammatory Bowel Disease 3
Inflammatory Bowel Disease 7 Inflammatory Bowel Disease 5
Inflammatory Bowel Disease 8 Inflammatory Bowel Disease 6
Inflammatory Bowel Disease 4 Inflammatory Bowel Disease 9
Inflammatory Bowel Disease 10 Inflammatory Bowel Disease 12
Inflammatory Bowel Disease 13 Inflammatory Bowel Disease 14
Inflammatory Bowel Disease 15 Inflammatory Bowel Disease 16
Inflammatory Bowel Disease 17 Inflammatory Bowel Disease 18
Inflammatory Bowel Disease 19 Inflammatory Bowel Disease 20
Inflammatory Bowel Disease 21 Inflammatory Bowel Disease 22
Inflammatory Bowel Disease 23 Inflammatory Bowel Disease 24
Inflammatory Bowel Disease 25, Autosomal Recessive Inflammatory Bowel Disease 26
Inflammatory Bowel Disease 27 Inflammatory Bowel Disease 28, Autosomal Recessive
Inflammatory Bowel Disease 29 Inflammatory Bowel Disease 28
Inflammatory Bowel Disease 25 Rare Inflammatory Bowel Disease

Diseases related to Inflammatory Bowel Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1273)
# Related Disease Score Top Affiliating Genes
1 ileitis 31.4 NOD2 IL6
2 inflammatory bowel disease 2 30.5 NOD2 HOGA1
3 mesenteric lymphadenitis 30.2 NOD2 IL6
4 inflammatory bowel disease 4 29.9 NOD2 HOGA1
5 inflammatory bowel disease 5 29.8 SLC22A5 SLC22A4 NOD2
6 inflammatory bowel disease 29.7 NOD2 NOD1 IL6
7 bacterial infectious disease 29.7 NOD2 NOD1 IL6
8 blau syndrome 29.7 NOD2 NOD1
9 inflammatory bowel disease 9 29.5 NOD2 NOD1
10 inflammatory bowel disease 3 29.4 NOD2 NOD1 HOGA1
11 pneumoconiosis 29.3 IL6 HSPA1L
12 crohn's disease 29.2 SLC22A5 SLC22A4 NOD2
13 pediatric ulcerative colitis 12.6
14 obsolete: azathioprine dose selection in the treatment of crohn disease, leukemia and in transplantation 12.3
15 obsolete: mercaptopurine dose selection in the treatment of crohn disease, leukemia and in transplantation 12.3
16 ulcerative proctitis 11.9
17 cholangitis, primary sclerosing 11.9
18 colorectal cancer 11.8
19 irritable bowel syndrome 11.8
20 pouchitis 11.8
21 inflammatory bowel disease 17 11.7
22 inflammatory bowel disease 19 11.7
23 inflammatory bowel disease 10 11.7
24 inflammatory bowel disease 25, autosomal recessive 11.7
25 pyoderma gangrenosum 11.7
26 colonic disease 11.6
27 bile duct cancer 11.6
28 colorectal cancer 10 11.6
29 chemical colitis 11.6
30 inflammatory bowel disease 14 11.4
31 inflammatory bowel disease 28, autosomal recessive 11.4
32 inflammatory bowel disease 29 11.3
33 polyposis syndrome, hereditary mixed, 1 11.3
34 colorectal cancer 1 11.3
35 colorectal cancer 3 11.3
36 autoimmune disease 6 11.3
37 colorectal cancer 12 11.3
38 collagenous gastritis 11.3
39 psoriasis 8 11.3
40 bile acid malabsorption, primary 11.1
41 orofacial granulomatosis 11.1
42 cholangitis 11.0
43 sclerosing cholangitis 11.0
44 proctitis 11.0
45 diarrhea 11.0
46 pyoderma 10.9
47 megacolon 10.9
48 toxic megacolon 10.8
49 adenocarcinoma 10.8
50 gastroduodenal crohn's disease 10.8

Comorbidity relations with Inflammatory Bowel Disease 1 via Phenotypic Disease Network (PDN): (show all 11)


Active Peptic Ulcer Disease Acute Cystitis
Crohn's Disease Deficiency Anemia
Esophagitis Intestinal Obstruction
Iron Deficiency Anemia Osteoporosis
Paralytic Ileus Protein-Energy Malnutrition
Ulcerative Colitis

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 1:



Diseases related to Inflammatory Bowel Disease   1

Symptoms & Phenotypes for Inflammatory Bowel Disease 1

Human phenotypes related to Inflammatory Bowel Disease 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abdominal pain 32 HP:0002027
2 weight loss 32 HP:0001824
3 growth delay 32 HP:0001510
4 intestinal obstruction 32 HP:0005214
5 diarrhea 32 HP:0002014
6 recurrent aphthous stomatitis 32 HP:0011107
7 ulcerative colitis 32 HP:0100279

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
abdominal pain
diarrhea
aphthous ulcers
bowel obstruction
strictures
more
Head And Neck Mouth:
aphthous ulcers (lips, gingiva, buccal mucosa)

Growth Weight:
weight loss

Clinical features from OMIM:

266600

UMLS symptoms related to Inflammatory Bowel Disease 1:


nausea and vomiting, constipation, abdominal pain, diarrhea, icterus, dyspepsia, heartburn, gastrointestinal gas

Drugs & Therapeutics for Inflammatory Bowel Disease 1

Drugs for Inflammatory Bowel Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 481)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3
Clarithromycin Approved Phase 4 81103-11-9 84029
4
Copper Approved, Investigational Phase 4 7440-50-8 27099
5
Clofazimine Approved, Investigational Phase 4 2030-63-9 2794
6
Rifabutin Approved, Investigational Phase 4 72559-06-9 6323490 46783538
7
Prucalopride Approved Phase 4 179474-81-8
8
Metronidazole Approved Phase 4 443-48-1 4173
9
Etidronic acid Approved Phase 4 2809-21-4, 7414-83-7 3305
10
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
11
Azithromycin Approved Phase 4 83905-01-5 447043 55185
12
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
13
Tofacitinib Approved, Investigational Phase 4 477600-75-2
14
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
15
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
16
Losartan Approved Phase 4 114798-26-4 3961
17
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
18
Caffeine Approved Phase 4 58-08-2 2519
19
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
20
Nicotine Approved Phase 4 54-11-5 942 89594
21
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
22
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
23
carbamide peroxide Approved Phase 4 124-43-6
24
Magnesium citrate Approved Phase 4 3344-18-1
25
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
26
Racepinephrine Approved Phase 4 329-65-7 838
27
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
28
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616 46835353
29
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
30
Ondansetron Approved Phase 4 99614-02-5 4595
31
Vancomycin Approved Phase 4 1404-90-6 441141 14969
32
Sulfamethazine Approved, Investigational, Vet_approved Phase 4 57-68-1 5327
33
Ustekinumab Approved, Investigational Phase 4 815610-63-0
34
Certolizumab pegol Approved Phase 4 428863-50-7
35
tannic acid Approved Phase 4 1401-55-4
36
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
37
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
38
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
39
leucovorin Approved Phase 4 58-05-9 143 6006
40
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
41
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
42
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
43
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
44
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
45 Tocotrienol Investigational Phase 4 6829-55-6
46 Tocotrienols Phase 4
47 Tocopherols Phase 4
48 Cytochrome P-450 CYP3A Inhibitors Phase 4
49 Serotonin Receptor Agonists Phase 4
50 Serotonin Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 1971)
# Name Status NCT ID Phase Drugs
1 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
2 Brief Escalation of Adalimumab Treatment for Prevention of Clinical Relapse in IBD Unknown status NCT03059849 Phase 4 Adalimumab
3 The Effect of Probiotics on the Rate of Recovery of Inflammatory Bowel Disease Exacerbation (Crohn's Disease) and Markers of Inflammation Unknown status NCT01765998 Phase 4 Probiotic;Placebo
4 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
5 Fecal Microbiota Transplantation for Ulcerative Colitis Through Colonic Transendoscopic Enteral Tubing Unknown status NCT02998112 Phase 4 fecal microbiota transplantation;Saline
6 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
7 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
8 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
9 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
10 A Prospective, Placebo Controlled, Double-Blind, Cross-over Study on the Effects of a Probiotic Preparation (VSL#3) on Metabolic Profile, Intestinal Permeability, Microbiota, Cytokines and Chemokines Expression and Other Inflammatory Markers in Pediatric Patients With Crohn's Disease Unknown status NCT01632462 Phase 4 VSL#3
11 Randomized Cross-Over Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With Inflammatory Bowel Disease Unknown status NCT02774057 Phase 4 Captafer®;Iron Sulfate
12 Anemia Treatment in Inflammatory Bowel Disease: Predictive Factors of Response to Oral Iron Treatment Unknown status NCT02760940 Phase 4 oral liposomal iron
13 Does Clinical Response Correlate With Serum Certolizumab Levels? A Prospective Open Label Trial of Adult Patients With Active Crohn's Disease (APOLLO) Unknown status NCT02597829 Phase 4 Certolizumab Pegol
14 A Randomized, Controlled, Single-blind Study of Effects of Enteral Nutrition and Corticosteroid on Intestinal Flora in Induction Remission of Crohn Disease in Adult Unknown status NCT02056418 Phase 4 corticosteroid
15 Evaluation of PET CT in the Management of Patients With Crohn's Disease. Unknown status NCT00731809 Phase 4
16 Adverse Effects of Glucocorticoid Therapy on Bone in Childhood Crohn's Disease Unknown status NCT00609752 Phase 4 prednisolone
17 Bacteria and Cytokines as Factors Modulating Visceral Afferent Processing in Irritable Bowel Syndrome: Manipulation of Intestinal Bacteria and Mucosal Cytokines by Probiotic Therapy and the Effect on Visceral Hypersensitivity Unknown status NCT00418340 Phase 4 probiotic (bacterial/dietary supplement)
18 Optimizing Response in Crohn's Disease Patients Who Have Insufficient Initial Response or Who Have Loss of Successful Response to Certolizumab Pegol (Cimzia) Induction Therapy Unknown status NCT01024647 Phase 4
19 The Effect of Probiotics on Bowel Disease Unknown status NCT01078935 Phase 4
20 Use of Combined Measurements of Serum Infliximab and Anti-infliximab Antibodies in the Treatment of Patients With Crohns Disease Failing Infliximab Therapy Unknown status NCT00851565 Phase 4
21 Discontinuation of Infliximab Therapy in Patients With Crohn's Disease During Sustained Complete Remission: A Multi-center, Double Blinded, Randomized, Placebo Controlled Study Unknown status NCT01817426 Phase 4 Infliximab
22 Phase IV Study Comparing a Nutritional Anti-Inflammatory Treatment to Steroids for Pediatric Crohn's Disease - the Molecular Basis Unknown status NCT00265772 Phase 4 MODULEN IBD (R) (specific Enteral Nutrition);prednisolon
23 Treatment of Crohn's Disease With an Antibiotic Regimen Directed Against Mycobacterium Avium Paratuberculosis Unknown status NCT00513552 Phase 4 Rifabutin, Clarithromycin, and Clofazimine
24 Double-blind Placebo Controlled Trial of VSL#3 in Children With Crohn's Disease Unknown status NCT00367705 Phase 4
25 The Effect of Prucalopride on Small Bowel Transit Time in Patients Undergoing Capsule Endoscopy: A Randomized Controlled Trial Unknown status NCT02806206 Phase 4 Prucalopride;Placebo
26 A RANDOMIZED, DOUBLE-BLIND, PARALLEL-GROUP STUDY TO EVALUATE THE SAFETY AND EFFICACY OF SWITCHING FROM INNOVATOR INFLIXIMAB TO BIOSIMILAR INFLIXIMAB COMPARED WITH CONTINUED TREATMENT WITH INNOVATOR INFLIXIMAB IN PATIENTS WITH RHEUMATOID ARTHRITIS, SPONDYLOARTHRITIS, PSORIATIC ARTHRITIS, ULCERATIVE COLITIS, CROHN'S DISEASE AND CHRONIC PLAQUE PSORIASIS THE NOR-SWITCH STUDY Completed NCT02148640 Phase 4 Innovator infliximab;Biosimilar infliximab
27 An Open-Label, Multicenter and Open Enrollment Model, Postmarketing, Milk-Only Lactation Study to Assess Concentration of Vedolizumab in Breast Milk of Lactating Women With Active Ulcerative Colitis or Crohn's Disease Who Are Receiving Vedolizumab Therapeutically Completed NCT02559713 Phase 4 Vedolizumab
28 Serological Response to Pneumococcal Vaccination in Crohn's Disease: A Prospective Multicenter Study Completed NCT01505855 Phase 4 23-valent polysaccharide pneumococcal vaccine
29 Immunogenicity of Hepatitis A Vaccine in Patients With Inflammatory Bowel Disease Completed NCT01341808 Phase 4
30 Study for the Treatment of Ulcerative Colitis With Adacolumn (Companion to US Study 512-04-205) Completed NCT00219414 Phase 4
31 A Randomised Controlled Trial Comparing the Efficacy of Intravenous Iron Sucrose and Oral Iron Sulfate in Patients With Iron Deficiency. Completed NCT01067547 Phase 4 Iron Sucrose.;Iron sucrose
32 Preference for a Prefilled Syringe or Smartject™ Device for Delivering SIMPONI (Golimumab) in Patients Suffering From Moderate to Severe Ulcerative Colitis Completed NCT02155335 Phase 4 Prefilled Syringe delivery of Golimumab;Smartject Device delivery of Golimumab
33 Comparison of Immune Response to the Human Papillomavirus Vaccine in Young Women With and Without Inflammatory Bowel Disease Completed NCT01034358 Phase 4
34 Multicentre Investigation of the Efficacy and Safety of Adacolumn® GMA in Patients With Steroid-Dependent Active Ulcerative Colitis and Insufficient Response or Intolerance to Immunosuppressants and/or Biological Therapies Completed NCT01481142 Phase 4
35 A Randomized, Multicenter Open Label Study Comparing Cyclosporine With Infliximab in Steroid-refractory Severe Attacks of Ulcerative Colitis Completed NCT00542152 Phase 4 CYCLOSPORINE VS INFLIXIMAB
36 The Influence of 5–Aminosalicylates on Thiopurine Metabolite Levels Completed NCT00167882 Phase 4 5-aminosalicylate (Pentasa, Ferring)
37 Safety of Accelerated Infliximab Infusions in Patients With Inflammatory Bowel Disease: A Prospective, Randomized, Double-Blind, Controlled Trial Completed NCT01346826 Phase 4 Standard 2 hours-infusion;Accelerated 1 hour-infusion;Accelerated 30 minutes-infusion
38 Golimumab: A Phase 4, UK, Open Label, Single Arm Study on Its Utilization and Impact in Ulcerative Colitis Completed NCT02092285 Phase 4 Golimumab
39 A Phase IV, Multi-center, Open-label Study to Assess Clinical Recurrence Related to Compliance With Treatment With MMX Mesalamine 2.4g/Day Given Once Daily for the Maintenance of Quiescent Ulcerative Colitis (UC) Completed NCT00446849 Phase 4 MMX Mesalamine
40 Active Ulcerative Colitis; Placebo Controlled Treatment Trial With Ciprofloxacin and E. Coli Nissle Completed NCT01772615 Phase 4 Ciprofloxacin
41 Histological and Endoscopic Evaluation of Remission Induced by Infliximab in Moderately to Severely Active Ulcerative Colitis Patients Completed NCT01408810 Phase 4 Infliximab
42 Treatment of Iron Deficiency Anaemia in Adults and Adolescents With Inflammatory Bowel Disease Using Ferrous Sulphate: Tolerance and Effects on Haemoglobin, Mood, Quality of Life and Fatigue Completed NCT01991314 Phase 4 Ferrous sulphate
43 Randomized, Double-Blind, Placebo-Controlled Study of VSL#3 Versus Placebo in the Maintenance of Remission in Crohn's Disease Completed NCT00114465 Phase 4 VSL#3
44 Test Treat Strategy to Prevent Ulcerative Colitis Relapse Completed NCT00652145 Phase 4 mesalamine
45 Pediatric Crohn's Disease AdalImumab Level-based Optimization Treatment (PAILOT) Trial Completed NCT02256462 Phase 4 Adalimumab
46 A Phase 4, Open-label, Multicenter, Prospective Study to Evaluate the Effect of Remission Status on the Ability to Maintain or Achieve Clinical and Endoscopic Remission During a 12-Month, Long-term Maintenance Phase With 2.4g/Day MMX Mesalamine/Mesalazine Once Daily in Adult Subjects With Ulcerative Colitis Completed NCT01124149 Phase 4 MMX mesalamine/ mesalazine
47 Multi Center Ulcerative Colitis Pediatric Pentasa Intervention Trial (MUPPIT). A Randomized, Single-blinded, Controlled, Parallel, Induction Therapy With Once vs. Twice Daily Dosing of Pentasa in Pediatric UC. Completed NCT01201122 Phase 4 Mesalamine
48 Steroid-induced Mood Changes in Patients With Inflammatory Bowel Disease Completed NCT01981889 Phase 4 Prednisone
49 An Open Label, Single Group Assignment Design Study to Correlate Soluble ST2 With Clinical, Endoscopic and Histological Activity in Moderate to Severe Ulcerative Colitis Patients Under Golimumab. Completed NCT02318667 Phase 4
50 Open Label Safety and Efficacy Trial of Twice Daily Dosing of Asacol vs. Three Times Per Day Dosing for the Induction of Remission in Active Ulcerative Colitis Completed NCT00194818 Phase 4 Asacol (mesalamine)

Search NIH Clinical Center for Inflammatory Bowel Disease 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


aminosalicylic acid
Azathioprine
balsalazide
Balsalazide disodium
Betamethasone
Bupivacaine
Cholecalciferol
Cortisone acetate
Dexamethasone
Hydrocortisone
hydrocortisone acetate
HYDROCORTISONE ACETATE PWDR
HYDROCORTISONE ACETONIDE
Hydrocortisone butyrate
hydrocortisone cypionate
hydrocortisone probutate
HYDROCORTISONE PWDR
Hydrocortisone sodium phosphate
Hydrocortisone sodium succinate
hydrocortisone valerate
HYDROCORTISONE,NONSTERILE PWDR
mesalamine
Methylprednisolone
natalizumab
nicotine polacrilex
olsalazine
Olsalazine sodium
Opium
OPIUM ALKALOIDS HYDROCHLORIDE
OPIUM, POWDERED
paregoric
Psyllium
PSYLLIUM HYDROCOLLOID
Sulfasalazine
Thalidomide

Genetic Tests for Inflammatory Bowel Disease 1

Genetic tests related to Inflammatory Bowel Disease 1:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 1 29 IL6 NOD2
2 Crohn Disease-Associated Growth Failure, Susceptibility to 29
3 Inflammatory Bowel Disease 1, Crohn Disease 29

Anatomical Context for Inflammatory Bowel Disease 1

MalaCards organs/tissues related to Inflammatory Bowel Disease 1:

41
Colon, Bone, Small Intestine, T Cells, Testes, Skin, Eye

Publications for Inflammatory Bowel Disease 1

Articles related to Inflammatory Bowel Disease 1:

(show top 50) (show all 152)
# Title Authors PMID Year
1
Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children. 8 71
16150725 2005
2
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 8 71
11385576 2001
3
Fine-mapping inflammatory bowel disease loci to single-variant resolution. 8
28658209 2017
4
Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation. 8
26488816 2015
5
NOD2-associated autoinflammatory disease: a large cohort study. 71
26070941 2015
6
Mongersen, an oral SMAD7 antisense oligonucleotide, and Crohn's disease. 8
25785968 2015
7
Paneth cells as a site of origin for intestinal inflammation. 8
24089213 2013
8
TGR5 signalling inhibits the production of pro-inflammatory cytokines by in vitro differentiated inflammatory and intestinal macrophages in Crohn's disease. 8
23566200 2013
9
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. 71
23102769 2013
10
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 8
23128233 2012
11
Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis. 8
22674328 2012
12
Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease. 8
22152681 2011
13
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 8
21983784 2011
14
Genetics and pathogenesis of inflammatory bowel disease. 8
21677747 2011
15
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. 8
21151126 2011
16
A new category of autoinflammatory disease associated with NOD2 gene mutations. 71
21914217 2011
17
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. 8
20570966 2010
18
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. 8
20601676 2010
19
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. 8
20176734 2010
20
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). 8
20228798 2010
21
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 8
20228799 2010
22
NOD2-associated diseases: Bridging innate immunity and autoinflammation. 71
19467619 2010
23
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. 8
19915573 2009
24
Inflammatory bowel disease. 8
19923578 2009
25
rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population. 8
19262523 2009
26
Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. 8
19249008 2009
27
Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. 8
19174780 2009
28
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. 8
19122664 2009
29
Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. 8
19068216 2009
30
Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. 8
19098911 2009
31
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. 8
18836448 2008
32
Anti tumour necrosis-alpha therapy increases the number of FOXP3 regulatory T cells in children affected by Crohn's disease. 8
18422560 2008
33
Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases. 8
18759272 2008
34
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 8
18587394 2008
35
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. 8
18438405 2008
36
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. 8
18439550 2008
37
An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29. 8
18246054 2008
38
New links to the pathogenesis of Crohn disease provided by genome-wide association scans. 8
17968351 2008
39
The genetics of inflammatory bowel disease. 8
17919503 2007
40
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 8
17804789 2007
41
Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals. 71
17623760 2007
42
Increased expression and activation of IL-12-induced Stat4 signaling in the mucosa of ulcerative colitis patients. 8
18048021 2007
43
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. 8
17554261 2007
44
CEACAM6 acts as a receptor for adherent-invasive E. coli, supporting ileal mucosa colonization in Crohn disease. 8
17525800 2007
45
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 8
17554300 2007
46
Inflammatory bowel disease: cause and immunobiology. 8
17499605 2007
47
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 8
17435756 2007
48
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. 8
17447842 2007
49
Epithelial NEMO links innate immunity to chronic intestinal inflammation. 8
17361131 2007
50
Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease. 8
17058067 2006

Variations for Inflammatory Bowel Disease 1

ClinVar genetic disease variations for Inflammatory Bowel Disease 1:

6 (show top 50) (show all 195)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HSPA1L NM_005527.4(HSPA1L): c.229G> A (p.Gly77Ser) single nucleotide variant association rs368138379 6:31779521-31779521 6:31811744-31811744
2 HSPA1L NM_005527.4(HSPA1L): c.515_517del (p.Leu172del) deletion association rs750447828 6:31779233-31779235 6:31811456-31811458
3 HSPA1L NM_005527.4(HSPA1L): c.800C> T (p.Thr267Ile) single nucleotide variant association rs139868987 6:31778950-31778950 6:31811173-31811173
4 HSPA1L NM_005527.4(HSPA1L): c.802G> A (p.Ala268Thr) single nucleotide variant association rs34620296 6:31778948-31778948 6:31811171-31811171
5 HSPA1L NM_005527.4(HSPA1L): c.1673A> C (p.Glu558Ala) single nucleotide variant association rs2227955 6:31778077-31778077 6:31810300-31810300
6 NOD2 NM_022162.3(NOD2): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 16:50744823-50744823 16:50710912-50710912
7 NOD2 NM_022162.3(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 16:50744822-50744822 16:50710911-50710911
8 NOD2 NM_022162.3(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 16:50756774-50756774 16:50722863-50722863
9 NOD2 NM_022162.3(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 16:50744969-50744969 16:50711058-50711058
10 NOD2 NM_022162.3(NOD2): c.1538T> C (p.Met513Thr) single nucleotide variant Pathogenic rs104895473 16:50745360-50745360 16:50711449-50711449
11 NOD2 NM_022162.3(NOD2): c.1720C> T (p.Gln574Ter) single nucleotide variant Pathogenic rs1264862631 16:50745542-50745542 16:50711631-50711631
12 PRKCQ NM_006257.5(PRKCQ): c.989C> T (p.Pro330Leu) single nucleotide variant Pathogenic rs2236379 10:6527143-6527143 10:6485181-6485181
13 IL6 IL6, -174G-C single nucleotide variant risk factor
14 NOD2 NM_022162.3(NOD2): c.2555A> G (p.Asn852Ser) single nucleotide variant risk factor rs104895467 16:50750810-50750810 16:50716899-50716899
15 NOD2 NM_022162.3(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 16:50756540-50756540 16:50722629-50722629
16 NOD2 NM_022162.3(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 16:50745926-50745926 16:50712015-50712015
17 NOD2 NM_022162.3(NOD2): c.3019dup (p.Leu1007fs) duplication risk factor rs2066847 16:50763781-50763781 16:50729870-50729870
18 NOD2 NM_022162.3(NOD2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104895456 16:50733738-50733738 16:50699827-50699827
19 NOD2 NM_022162.3(NOD2): c.703C> T (p.Arg235Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs104895422 16:50744525-50744525 16:50710614-50710614
20 NOD2 NM_022162.3(NOD2): c.74-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs104895421 16:50733392-50733392 16:50699481-50699481
21 NOD2 NM_022162.3(NOD2): c.2546C> T (p.Ala849Val) single nucleotide variant Conflicting interpretations of pathogenicity rs104895486 16:50750581-50750581 16:50716670-50716670
22 NOD2 NM_022162.3(NOD2): c.931C> T (p.Arg311Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs104895427 16:50744753-50744753 16:50710842-50710842
23 NOD2 NM_022162.3(NOD2): c.2107C> T (p.Arg703Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs5743277 16:50745929-50745929 16:50712018-50712018
24 NOD2 NM_022162.3(NOD2): c.1281G> A (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895430 16:50745103-50745103 16:50711192-50711192
25 NOD2 NM_022162.3(NOD2): c.807G> A (p.Pro269=) single nucleotide variant Conflicting interpretations of pathogenicity rs369766454 16:50744629-50744629 16:50710718-50710718
26 NOD2 NM_022162.3(NOD2): c.484G> A (p.Val162Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139571975 16:50733809-50733809 16:50699898-50699898
27 NOD2 NM_022162.3(NOD2): c.566C> T (p.Thr189Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61755182 16:50741791-50741791 16:50707880-50707880
28 NOD2 NM_022162.3(NOD2): c.1316G> A (p.Arg439His) single nucleotide variant Conflicting interpretations of pathogenicity rs143110172 16:50745138-50745138 16:50711227-50711227
29 NOD2 NM_022162.3(NOD2): c.1834G> T (p.Ala612Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs104895438 16:50745656-50745656 16:50711745-50711745
30 NOD2 NM_022162.3(NOD2): c.2050C> T (p.Arg684Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5743276 16:50745872-50745872 16:50711961-50711961
31 NOD2 NM_022162.3(NOD2): c.2330C> A (p.Thr777Asn) single nucleotide variant Uncertain significance rs756184386 16:50746152-50746152 16:50712241-50712241
32 NOD2 NM_022162.3(NOD2): c.2365C> T (p.Leu789Phe) single nucleotide variant Uncertain significance rs773758818 16:50746187-50746187 16:50712276-50712276
33 NOD2 NM_022162.3(NOD2): c.1603C> T (p.Leu535=) single nucleotide variant Uncertain significance rs145190613 16:50745425-50745425 16:50711514-50711514
34 NOD2 NM_022162.3(NOD2): c.2494A> G (p.Ile832Val) single nucleotide variant Uncertain significance rs765335094 16:50750529-50750529 16:50716618-50716618
35 NOD2 NM_022162.3(NOD2): c.2740G> A (p.Glu914Lys) single nucleotide variant Uncertain significance rs758913334 16:50756558-50756558 16:50722647-50722647
36 NOD2 NM_022162.3(NOD2): c.*186C> G single nucleotide variant Uncertain significance rs886052045 16:50765916-50765916 16:50732005-50732005
37 NOD2 NM_022162.3(NOD2): c.*422C> G single nucleotide variant Uncertain significance rs886052049 16:50766152-50766152 16:50732241-50732241
38 NOD2 NM_022162.3(NOD2): c.2632C> T (p.Leu878=) single nucleotide variant Uncertain significance rs886052044 16:50753837-50753837 16:50719926-50719926
39 NOD2 NM_022162.3(NOD2): c.*873C> T single nucleotide variant Uncertain significance rs373812846 16:50766603-50766603 16:50732692-50732692
40 NOD2 NM_022162.3(NOD2): c.841C> T (p.Leu281Phe) single nucleotide variant Uncertain significance rs756943416 16:50744663-50744663 16:50710752-50710752
41 NOD2 NM_022162.3(NOD2): c.140C> T (p.Ser47Leu) single nucleotide variant Uncertain significance rs201586544 16:50733465-50733465 16:50699554-50699554
42 NOD2 NM_022162.3(NOD2): c.1856C> T (p.Ala619Val) single nucleotide variant Uncertain significance rs867131858 16:50745678-50745678 16:50711767-50711767
43 NOD2 NM_022162.3(NOD2): c.2003C> T (p.Pro668Leu) single nucleotide variant Uncertain significance rs5743275 16:50745825-50745825 16:50711914-50711914
44 NOD2 NM_022162.3(NOD2): c.1634C> T (p.Pro545Leu) single nucleotide variant Uncertain significance rs777949388 16:50745456-50745456 16:50711545-50711545
45 NOD2 NM_022162.3(NOD2): c.*1201T> A single nucleotide variant Uncertain significance rs751525993 16:50766931-50766931 16:50733020-50733020
46 NOD2 NM_022162.3(NOD2): c.*329_*334dup duplication Uncertain significance rs886052047 16:50766059-50766064 16:50732148-50732153
47 NOD2 NM_022162.3(NOD2): c.*470C> T single nucleotide variant Uncertain significance rs770461687 16:50766200-50766200 16:50732289-50732289
48 NOD2 NM_022162.3(NOD2): c.1981G> C (p.Ala661Pro) single nucleotide variant Uncertain significance rs369957746 16:50745803-50745803 16:50711892-50711892
49 NOD2 NM_022162.3(NOD2): c.2489G> A (p.Arg830Gln) single nucleotide variant Uncertain significance rs770915641 16:50750524-50750524 16:50716613-50716613
50 NOD2 NM_022162.3(NOD2): c.*325G> A single nucleotide variant Uncertain significance rs886052046 16:50766055-50766055 16:50732144-50732144

UniProtKB/Swiss-Prot genetic disease variations for Inflammatory Bowel Disease 1:

74
# Symbol AA change Variation ID SNP ID
1 NOD2 p.Arg702Trp VAR_012689 rs2066844
2 NOD2 p.Gly908Arg VAR_012701 rs2066845

Expression for Inflammatory Bowel Disease 1

Search GEO for disease gene expression data for Inflammatory Bowel Disease 1.

Pathways for Inflammatory Bowel Disease 1

Pathways related to Inflammatory Bowel Disease 1 according to KEGG:

37
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621
2 Cytokine-cytokine receptor interaction hsa04060
3 JAK-STAT signaling pathway hsa04630
4 Inflammatory bowel disease (IBD) hsa05321
5 Autophagy - animal hsa04140

Pathways related to Inflammatory Bowel Disease 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.97 PRKCQ NOD2 IL6
2 11.15 NOD2 NOD1
3 10.9 IL6 HSPA1L
4 10.57 NOD2 NOD1
5 10.19 NOD2 NOD1

GO Terms for Inflammatory Bowel Disease 1

Cellular components related to Inflammatory Bowel Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.13 SLC22A5 SLC22A4 NOD1
2 COP9 signalosome GO:0008180 8.32 HSPA1L

Biological processes related to Inflammatory Bowel Disease 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of T cell proliferation GO:0042102 9.58 PRKCQ IL6
2 humoral immune response GO:0006959 9.58 IL6 CCR6
3 positive regulation of tumor necrosis factor production GO:0032760 9.57 NOD2 NOD1
4 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.56 NOD2 NOD1
5 JNK cascade GO:0007254 9.55 NOD2 NOD1
6 interleukin-1-mediated signaling pathway GO:0070498 9.54 NOD2 NOD1
7 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.52 NOD2 NOD1
8 positive regulation of stress-activated MAPK cascade GO:0032874 9.51 NOD2 NOD1
9 positive regulation of interleukin-6 production GO:0032755 9.5 NOD2 NOD1 IL6
10 positive regulation of interleukin-17 production GO:0032740 9.49 PRKCQ NOD2
11 positive regulation of interleukin-1 beta production GO:0032731 9.48 NOD2 NOD1
12 detection of bacterium GO:0016045 9.46 NOD2 NOD1
13 cellular response to muramyl dipeptide GO:0071225 9.43 NOD2 NOD1
14 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.4 NOD2 NOD1
15 carnitine transport GO:0015879 9.37 SLC22A5 SLC22A4
16 quaternary ammonium group transport GO:0015697 9.26 SLC22A5 SLC22A4
17 detection of biotic stimulus GO:0009595 9.16 NOD2 NOD1
18 carnitine transmembrane transport GO:1902603 8.96 SLC22A5 SLC22A4
19 positive regulation of NF-kappaB transcription factor activity GO:0051092 8.92 PRKCQ NOD2 NOD1 IL6

Molecular functions related to Inflammatory Bowel Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.63 SLC22A5 SLC22A4 PRKCQ NOD2 NOD1 HSPA1L
2 peptidoglycan binding GO:0042834 9.32 NOD2 NOD1
3 CARD domain binding GO:0050700 9.26 NOD2 NOD1
4 quaternary ammonium group transmembrane transporter activity GO:0015651 8.96 SLC22A5 SLC22A4
5 carnitine transmembrane transporter activity GO:0015226 8.62 SLC22A5 SLC22A4
6 protein binding GO:0005515 10.07 SLC22A5 SLC22A4 PRKCQ NOD2 NOD1 METTL9

Sources for Inflammatory Bowel Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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