IBD1
MCID: INF071
MIFTS: 65

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 72
Inflammatory Bowel Disease 1 12 72 29 6 15
Crohn Disease-Associated Growth Failure 57 72 13
Ibd1 57 12 72
Crohn Disease-Associated Growth Failure, Susceptibility to 29 6
Inflammatory Bowel Disease 1, Crohn Disease 57 29
Ulcerative Colitis 72 70
Regional Enteritis 72 70
Crohn Disease 72 70
Bowel Disease, Inflammatory, Type 1 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
inflammatory bowel disease 1:
Inheritance multifactorial inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110892
OMIM® 57 266600
OMIM Phenotypic Series 57 PS266600
UMLS 70 C0009324 C0010346 C0678202

Summaries for Inflammatory Bowel Disease 1

UniProtKB/Swiss-Prot : 72 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 cholangitis, primary sclerosing and inflammatory bowel disease 19, 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 Senescence and Autophagy in Cancer. The drugs Prucalopride and Vitamin K1 have been mentioned in the context of this disorder. Affiliated tissues include colon, bone and bone marrow, and related phenotypes are growth delay and abdominal pain

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

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 30
Inflammatory Bowel Disease 28 Inflammatory Bowel Disease 25
Alpi-Related Inflammatory Bowel Disease Trim22-Related Inflammatory Bowel Disease
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 1299)
# Related Disease Score Top Affiliating Genes
1 cholangitis, primary sclerosing 32.6 NOD2 IL6 CCR6
2 inflammatory bowel disease 19 32.4 TNFSF15 NOD2 IRGM
3 ileitis 31.7 NOD2 IL6 CCR6 ATG16L1
4 spondylitis 31.4 NOD2 IL6 CCR6
5 diverticulitis 31.4 TNFSF15 IL6 CCR6
6 spondyloarthropathy 1 31.4 NOD2 IL6 CCR6
7 celiac disease 1 31.2 NOD2 IL6 CCR6 ATG16L1
8 rectal disease 31.0 NOD2 IL6 CCR6
9 ileocolitis 30.9 NOD2 ATG16L1
10 bacterial infectious disease 30.8 NOD2 NOD1 IL6 CCR6
11 iritis 30.8 NOD2 IL6 CCR6
12 human herpesvirus 8 30.8 IL6-AS1 IL6
13 salmonellosis 30.7 NOD2 NOD1 IL6 CCR6 ATG16L1
14 perinatal necrotizing enterocolitis 30.6 NOD2 IL6 CCR6
15 inflammatory bowel disease 15 30.5 TNFSF15 NOD2
16 aspergillosis 30.5 NOD2 IL6 CCR6
17 panuveitis 30.5 NOD2 IL6 CCR6
18 inflammatory bowel disease 18 30.5 NOD2 CCR6 ATG16L1
19 blastomycosis 30.4 IL6 CCR6
20 testicular disease 30.4 TNFSF15 NOD2 IL6 CCR6
21 crohn's colitis 30.3 NOD2 CCR6 ATG16L1
22 inflammatory bowel disease 9 30.3 NOD2 CCR6
23 tenosynovitis 30.3 NOD2 IL6
24 leprosy 3 30.2 TNFSF15 NOD2 NOD1 IRGM IL6 CCR6
25 colitis 30.2 NOD2 NOD1 IRGM IL6 CCR6 ATG16L1
26 inflammatory bowel disease 5 30.2 TNFSF15 SLC22A5 SLC22A4 NOD2 IRGM DLG5
27 ulcerative colitis 30.2 TNFSF15 NOD2 IRGM IL6 CCR6 ATG16L1
28 inflammatory bowel disease 6 30.2 NOD2 ATG16L1
29 crohn's disease 29.8 TNFSF15 SLC22A5 SLC22A4 PRKCQ NOD2 NOD1
30 inflammatory bowel disease 29.8 TNFSF15 SLC22A5 SLC22A4 NOD2 NOD1 IRGM
31 pediatric ulcerative colitis 11.6
32 pouchitis 11.4
33 proctitis 11.4
34 irritable bowel syndrome 11.4
35 colorectal cancer 11.4
36 pyoderma gangrenosum 11.3
37 inflammatory bowel disease 17 11.3
38 inflammatory bowel disease 10 11.3
39 inflammatory bowel disease 25, autosomal recessive 11.3
40 inflammatory bowel disease 14 11.2
41 inflammatory bowel disease 28, autosomal recessive 11.2
42 colonic disease 11.2
43 bile duct cancer 11.2
44 hemorrhoid 11.1
45 psoriasis 8 11.1
46 cholangitis 11.1
47 sclerosing cholangitis 11.1
48 colorectal cancer 10 11.1
49 chemical colitis 11.1
50 polyposis syndrome, hereditary mixed, 1 11.1

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 growth delay 31 HP:0001510
2 abdominal pain 31 HP:0002027
3 weight loss 31 HP:0001824
4 intestinal obstruction 31 HP:0005214
5 diarrhea 31 HP:0002014
6 recurrent aphthous stomatitis 31 HP:0011107
7 crohn's disease 31 HP:0100280
8 ulcerative colitis 31 HP:0100279

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Inflammatory Bowel Disease 1:


nausea and vomiting; constipation; abdominal pain; diarrhea; dyspepsia; icterus; 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 418)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prucalopride Approved Phase 4 179474-81-8
2
Vitamin K1 Approved, Investigational Phase 4 84-80-0 5284607
3
Metronidazole Approved Phase 4 443-48-1 4173
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Azithromycin Approved Phase 4 83905-01-5 447043 55185
9
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
10
Sulfamethazine Approved, Investigational, Vet_approved Phase 4 57-68-1 5327
11
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
12
Tofacitinib Approved, Investigational Phase 4 477600-75-2
13
Nicotine Approved Phase 4 54-11-5 942 89594
14
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
15
Magnesium citrate Approved Phase 4 3344-18-1
16
Ondansetron Approved Phase 4 99614-02-5 4595
17
Ustekinumab Approved, Investigational Phase 4 815610-63-0
18
tannic acid Approved Phase 4 1401-55-4
19
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
20
Mercaptopurine Approved Phase 4 50-44-2 667490
21
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
22
Certolizumab pegol Approved Phase 4 428863-50-7
23
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
24
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
25
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
26
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
27
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
28
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
29 Menaquinone Investigational Phase 4 1182-68-9
30 Hydrocortisone-17-butyrate Phase 4
31 Gentamicins Phase 4
32 Serotonin Receptor Agonists Phase 4
33 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
34 Anti-Asthmatic Agents Phase 4
35 Hormone Antagonists Phase 4
36 Bronchodilator Agents Phase 4
37 Antiparasitic Agents Phase 4
38 Antiprotozoal Agents Phase 4
39 Vitamin K Phase 4
40 naphthoquinone Phase 4
41 Antifibrinolytic Agents Phase 4
42 Coagulants Phase 4
43 Cyclosporins Phase 4
44 Sympathomimetics Phase 4
45 Adrenergic Agents Phase 4
46 Epinephryl borate Phase 4
47 Anesthetics, Local Phase 4
48 calcium channel blockers Phase 4
49 Vitamin K 1 Phase 4
50 Diphosphonates Phase 4

Interventional clinical trials:

(show top 50) (show all 1974)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 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.
6 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
7 Fecal Microbiota Transplantation for Ulcerative Colitis Through Colonic Transendoscopic Enteral Tubing Unknown status NCT02998112 Phase 4 fecal microbiota transplantation;Saline
8 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
9 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)
10 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
11 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
12 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
13 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
14 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
15 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
16 Department of General Surgery, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310016, China Unknown status NCT03901937 Phase 4 ω-3 polyunsaturated fatty acid
17 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
18 Adverse Effects of Glucocorticoid Therapy on Bone in Childhood Crohn's Disease Unknown status NCT00609752 Phase 4 prednisolone
19 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
20 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
21 Double-blind Placebo Controlled Trial of VSL#3 in Children With Crohn's Disease Unknown status NCT00367705 Phase 4
22 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
23 Evaluation of PET CT in the Management of Patients With Crohn's Disease. Unknown status NCT00731809 Phase 4
24 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
25 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
26 The Effect of Probiotics on Bowel Disease Unknown status NCT01078935 Phase 4
27 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
28 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
29 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
30 Comparison of Immune Response to the Human Papillomavirus Vaccine in Young Women With and Without Inflammatory Bowel Disease Completed NCT01034358 Phase 4
31 Test Treat Strategy to Prevent Ulcerative Colitis Relapse Completed NCT00652145 Phase 4 mesalamine
32 Histological and Endoscopic Evaluation of Remission Induced by Infliximab in Moderately to Severely Active Ulcerative Colitis Patients Completed NCT01408810 Phase 4 Infliximab
33 A Multi-centre Double Blind Randomised Placebo-controlled Study of the Use of Rectal Tacrolimus in the Treatment of Resistant Ulcerative Proctitis Completed NCT01418131 Phase 4 Rectal tacrolimus;Placebo
34 A Research Study to Bank Samples for Future Evaluation to Identify Biomarkers That Predispose Crohn's Disease and Ulcerative Colitis Patients to Develop Hepatosplenic T-Cell Lymphoma (HSTCL) Completed NCT01804166 Phase 4 Infliximab;Golimumab
35 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
36 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
37 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
38 A Phase III, Multicenter, Open-Label, Long-Term Study of the Safety, Tolerability, and Efficacy of Intravenous Antegren™ (Natalizumab) in Crohn's Disease Subjects Who Have Previously Participated in Antegren Crohn's Disease Studies Completed NCT00280956 Phase 4 natalizumab
39 A Pilot Study to Evaluate the Applicability of the Crohn's Disease Endoscopy Index of Severity to Data Obtained by the Colonic Capsule Endoscopy in Ileocolonic Crohn's Disease Completed NCT01183845 Phase 4
40 Active Ulcerative Colitis; Placebo Controlled Treatment Trial With Ciprofloxacin and E. Coli Nissle Completed NCT01772615 Phase 4 Ciprofloxacin
41 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)
42 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
43 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
44 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
45 Study for the Treatment of Ulcerative Colitis With Adacolumn (Companion to US Study 512-04-205) Completed NCT00219414 Phase 4
46 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
47 A Phase 4 Open-Label Study to Evaluate Vedolizumab IV Dose Optimization on Treatment Outcomes In Nonresponders With Moderately to Severely Active Ulcerative Colitis (ENTERPRET) Completed NCT03029143 Phase 4 Vedolizumab IV
48 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
49 Multicenter Open-label Study Evaluating the Safety and Efficacy of Standardized Initial Therapy Using Either Mesalamine or Corticosteroids Then Mesalamine to Treat Children and Adolescents With Newly Diagnosed Ulcerative Colitis. Completed NCT01536535 Phase 4 Mesalazine;IV Corticosteroid;Oral Corticosteroids
50 An Open Label Interventional Phase 4 Study to Evaluate Efficacy, Safety and Mucosal Healing of Early Versus Late Use of Vedolizumab in Ulcerative Colitis: the LOVE-UC Study (LOw Countries VEdolizumab in UC Study) Completed NCT02646657 Phase 4 Vedolizumab 300 mg

Search NIH Clinical Center for Inflammatory Bowel Disease 1

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


aminosalicylic acid
Azathioprine
balsalazide
Balsalazide disodium
Cholecalciferol
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
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:

40
Colon, Bone, Bone Marrow, T Cells, Small Intestine, Placenta, Endothelial

Publications for Inflammatory Bowel Disease 1

Articles related to Inflammatory Bowel Disease 1:

(show top 50) (show all 199)
# Title Authors PMID Year
1
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 57 6
21983784 2011
2
Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children. 57 6
16150725 2005
3
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 57 6
11385576 2001
4
The liver-brain-gut neural arc maintains the Treg cell niche in the gut. 57
32526765 2020
5
Gut stem cell necroptosis by genome instability triggers bowel inflammation. 57
32296174 2020
6
Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis. 57
31853061 2020
7
Somatic inflammatory gene mutations in human ulcerative colitis epithelium. 57
31853059 2020
8
Colonic epithelial cell diversity in health and inflammatory bowel disease. 57
30814735 2019
9
Fine-mapping inflammatory bowel disease loci to single-variant resolution. 57
28658209 2017
10
De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. 6
28126021 2017
11
A Case of Blau Syndrome with NOD2 E383K Mutation. 6
27339507 2016
12
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. 6
26606664 2016
13
NOD2-associated autoinflammatory disease: a large cohort study. 6
26070941 2015
14
Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation. 57
26488816 2015
15
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. 6
25416713 2015
16
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. 6
25829188 2015
17
Mongersen, an oral SMAD7 antisense oligonucleotide, and Crohn's disease. 57
25785968 2015
18
Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association. 6
26500656 2015
19
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. 6
25429073 2015
20
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. 6
25093298 2014
21
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. 6
24713464 2014
22
Blau syndrome, the prototypic auto-inflammatory granulomatous disease. 6
25136265 2014
23
Paneth cells as a site of origin for intestinal inflammation. 57
24089213 2013
24
TGR5 signalling inhibits the production of pro-inflammatory cytokines by in vitro differentiated inflammatory and intestinal macrophages in Crohn's disease. 57
23566200 2013
25
The intermediate filament protein, vimentin, is a regulator of NOD2 activity. 6
22684479 2013
26
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. 6
23102769 2013
27
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 57
23128233 2012
28
Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis. 57
22674328 2012
29
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. 6
22509093 2012
30
Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease. 57
22152681 2011
31
Genetics and pathogenesis of inflammatory bowel disease. 57
21677747 2011
32
NOD2 exonic variations in Iranian Crohn's disease patients. 6
21274544 2011
33
Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. 6
21548950 2011
34
Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC. 6
21335489 2011
35
A new category of autoinflammatory disease associated with NOD2 gene mutations. 6
21914217 2011
36
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. 57
21151126 2011
37
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. 57
20570966 2010
38
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. 57
20601676 2010
39
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. 6
20565245 2010
40
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. 57
20176734 2010
41
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. 6
20084402 2010
42
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). 57
20228798 2010
43
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 57
20228799 2010
44
NOD2-associated diseases: Bridging innate immunity and autoinflammation. 6
19467619 2010
45
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. 6
20199415 2010
46
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. 57
19915573 2009
47
Inflammatory bowel disease. 57
19923578 2009
48
Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 6
19713276 2009
49
Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. 6
19479836 2009
50
Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. 57
19249008 2009

Variations for Inflammatory Bowel Disease 1

ClinVar genetic disease variations for Inflammatory Bowel Disease 1:

6 (show top 50) (show all 424)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSPA1L NM_005527.4(HSPA1L):c.800C>T (p.Thr267Ile) SNV association 372133 rs139868987 GRCh37: 6:31778950-31778950
GRCh38: 6:31811173-31811173
2 HSPA1L NM_005527.4(HSPA1L):c.1673A>C (p.Glu558Ala) SNV association 372131 rs2227955 GRCh37: 6:31778077-31778077
GRCh38: 6:31810300-31810300
3 HSPA1L NM_005527.4(HSPA1L):c.229G>A (p.Gly77Ser) SNV association 372134 rs368138379 GRCh37: 6:31779521-31779521
GRCh38: 6:31811744-31811744
4 HSPA1L NM_005527.4(HSPA1L):c.515_517del (p.Leu172del) Deletion association 372135 rs750447828 GRCh37: 6:31779233-31779235
GRCh38: 6:31811456-31811458
5 HSPA1L NM_005527.4(HSPA1L):c.802G>A (p.Ala268Thr) SNV association 372132 rs34620296 GRCh37: 6:31778948-31778948
GRCh38: 6:31811171-31811171
6 NOD2 NM_001370466.1(NOD2):c.2938dup (p.Leu980fs) Duplication association 4691 rs2066847 GRCh37: 16:50763778-50763779
GRCh38: 16:50729867-50729868
7 NOD2 NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) SNV association 97856 rs104895467 GRCh37: 16:50750810-50750810
GRCh38: 16:50716899-50716899
8 NOD2 NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) SNV association 4693 rs2066844 GRCh37: 16:50745926-50745926
GRCh38: 16:50712015-50712015
9 NOD2 NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) SNV Pathogenic 4694 rs104895461 GRCh37: 16:50744823-50744823
GRCh38: 16:50710912-50710912
10 NOD2 NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) SNV Pathogenic 4701 rs104895477 GRCh37: 16:50744969-50744969
GRCh38: 16:50711058-50711058
11 NOD2 NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) SNV Pathogenic 4696 rs104895462 GRCh37: 16:50744822-50744822
GRCh38: 16:50710911-50710911
12 PRKCQ NM_006257.5(PRKCQ):c.989C>T (p.Pro330Leu) SNV Pathogenic 586982 rs2236379 GRCh37: 10:6527143-6527143
GRCh38: 10:6485181-6485181
13 NOD2 NM_001370466.1(NOD2):c.1639C>T (p.Gln547Ter) SNV Pathogenic 634817 rs1264862631 GRCh37: 16:50745542-50745542
GRCh38: 16:50711631-50711631
14 NOD2 NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) SNV Pathogenic 97834 rs104895473 GRCh37: 16:50745360-50745360
GRCh38: 16:50711449-50711449
15 NOD2 NM_001370466.1(NOD2):c.2633+1G>A SNV Pathogenic 998262 GRCh37: 16:50753920-50753920
GRCh38: 16:50720009-50720009
16 NOD2 NM_001370466.1(NOD2):c.2717+158C>T SNV risk factor 4697 rs5743289 GRCh37: 16:50756774-50756774
GRCh38: 16:50722863-50722863
17 NOD2 NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) SNV risk factor 4692 rs2066845 GRCh37: 16:50756540-50756540
GRCh38: 16:50722629-50722629
18 FMNL2 NM_052905.4(FMNL2):c.407T>C (p.Leu136Pro) SNV Likely pathogenic 997783 GRCh37: 2:153415301-153415301
GRCh38: 2:152558787-152558787
19 IL6-AS1 , IL6 NG_011640.1:g.4880C>G SNV risk factor 14718 GRCh37: 7:22766645-22766645
GRCh38: 7:22727026-22727026
20 NOD2 NM_001370466.1(NOD2):c.2938dup (p.Leu980fs) Duplication risk factor 4691 rs2066847 GRCh37: 16:50763778-50763779
GRCh38: 16:50729867-50729868
21 NOD2 NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) SNV Conflicting interpretations of pathogenicity 97885 rs104895427 GRCh37: 16:50744753-50744753
GRCh38: 16:50710842-50710842
22 NOD2 NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) SNV Conflicting interpretations of pathogenicity 97850 rs104895464 GRCh37: 16:50746194-50746194
GRCh38: 16:50712283-50712283
23 NOD2 NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) SNV Conflicting interpretations of pathogenicity 319431 rs61755182 GRCh37: 16:50741791-50741791
GRCh38: 16:50707880-50707880
24 NOD2 NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp) SNV Uncertain significance 808040 rs749720540 GRCh37: 16:50746079-50746079
GRCh38: 16:50712168-50712168
25 NOD2 NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) SNV Uncertain significance 97827 rs104895432 GRCh37: 16:50745143-50745143
GRCh38: 16:50711232-50711232
26 NOD2 NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) SNV Uncertain significance 808041 rs2066845 GRCh37: 16:50756540-50756540
GRCh38: 16:50722629-50722629
27 NOD2 NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) SNV Uncertain significance 885262 GRCh37: 16:50741815-50741815
GRCh38: 16:50707904-50707904
28 NOD2 NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) SNV Uncertain significance 97872 rs104895457 GRCh37: 16:50759450-50759450
GRCh38: 16:50725539-50725539
29 NOD2 NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) SNV Uncertain significance 97872 rs104895457 GRCh37: 16:50759450-50759450
GRCh38: 16:50725539-50725539
30 NOD2 NM_001370466.1(NOD2):c.1378G>A (p.Val460Ile) SNV Uncertain significance 1035561 GRCh37: 16:50745281-50745281
GRCh38: 16:50711370-50711370
31 NOD2 NM_001370466.1(NOD2):c.653C>T (p.Thr218Met) SNV Uncertain significance 319434 rs148516118 GRCh37: 16:50744556-50744556
GRCh38: 16:50710645-50710645
32 NOD2 NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) SNV Uncertain significance 319472 rs142559533 GRCh37: 16:50753917-50753917
GRCh38: 16:50720006-50720006
33 NOD2 NM_001370466.1(NOD2):c.1201G>A (p.Ala401Thr) SNV Uncertain significance 1037619 GRCh37: 16:50745104-50745104
GRCh38: 16:50711193-50711193
34 NOD2 NM_001370466.1(NOD2):c.2534A>G (p.Asn845Ser) SNV Uncertain significance 1037896 GRCh37: 16:50750870-50750870
GRCh38: 16:50716959-50716959
35 NOD2 NM_001370466.1(NOD2):c.1723C>T (p.Leu575Phe) SNV Uncertain significance 1038456 GRCh37: 16:50745626-50745626
GRCh38: 16:50711715-50711715
36 NOD2 NM_001370466.1(NOD2):c.1331G>T (p.Arg444Leu) SNV Uncertain significance 1038643 GRCh37: 16:50745234-50745234
GRCh38: 16:50711323-50711323
37 NOD2 NM_001370466.1(NOD2):c.1195C>T (p.Arg399Cys) SNV Uncertain significance 1038667 GRCh37: 16:50745098-50745098
GRCh38: 16:50711187-50711187
38 NOD2 NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys) SNV Uncertain significance 97854 rs104895445 GRCh37: 16:50750562-50750562
GRCh38: 16:50716651-50716651
39 NOD2 NM_001370466.1(NOD2):c.1528C>T (p.Pro510Ser) SNV Uncertain significance 1040807 GRCh37: 16:50745431-50745431
GRCh38: 16:50711520-50711520
40 NOD2 NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter) SNV Uncertain significance 995705 GRCh37: 16:50733719-50733719
GRCh38: 16:50699808-50699808
41 NOD2 NM_001370466.1(NOD2):c.2886G>A (p.Lys962=) SNV Uncertain significance 1041706 GRCh37: 16:50763729-50763729
GRCh38: 16:50729818-50729818
42 NOD2 NM_001370466.1(NOD2):c.1474C>T (p.Gln492Ter) SNV Uncertain significance 1042000 GRCh37: 16:50745377-50745377
GRCh38: 16:50711466-50711466
43 NOD2 NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) SNV Uncertain significance 1043683 GRCh37: 16:50744991-50744991
GRCh38: 16:50711080-50711080
44 NOD2 NM_001370466.1(NOD2):c.2885+6G>T SNV Uncertain significance 1046198 GRCh37: 16:50759489-50759489
GRCh38: 16:50725578-50725578
45 NOD2 NM_001370466.1(NOD2):c.2633+3A>C SNV Uncertain significance 1047262 GRCh37: 16:50753922-50753922
GRCh38: 16:50720011-50720011
46 NOD2 NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) SNV Uncertain significance 885262 GRCh37: 16:50741815-50741815
GRCh38: 16:50707904-50707904
47 NOD2 NM_001370466.1(NOD2):c.1864A>C (p.Ile622Leu) SNV Uncertain significance 1000144 GRCh37: 16:50745767-50745767
GRCh38: 16:50711856-50711856
48 NOD2 NM_001370466.1(NOD2):c.299C>T (p.Ser100Leu) SNV Uncertain significance 1001128 GRCh37: 16:50733705-50733705
GRCh38: 16:50699794-50699794
49 NOD2 NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val) SNV Uncertain significance 97841 rs104895439 GRCh37: 16:50745657-50745657
GRCh38: 16:50711746-50711746
50 NOD2 NM_001370466.1(NOD2):c.2065C>T (p.Arg689Cys) SNV Uncertain significance 1004616 GRCh37: 16:50745968-50745968
GRCh38: 16:50712057-50712057

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

72
# 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.18 NOD2 NOD1 IL6 ATG16L1
2 11.16 TNFSF15 IL6 ATG16L1

GO Terms for Inflammatory Bowel Disease 1

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 defense response to Gram-positive bacterium GO:0050830 9.76 NOD2 NOD1 IL6
2 positive regulation of interleukin-6 production GO:0032755 9.75 NOD2 NOD1 IL6
3 positive regulation of tumor necrosis factor production GO:0032760 9.74 NOD2 NOD1 IL6
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.67 PRKCQ NOD2 NOD1 IL6
5 positive regulation of interleukin-8 production GO:0032757 9.65 NOD2 NOD1 IL6
6 positive regulation of interleukin-1 beta production GO:0032731 9.63 NOD2 NOD1 IL6
7 detection of bacterium GO:0016045 9.56 NOD2 NOD1
8 cellular response to muramyl dipeptide GO:0071225 9.55 NOD2 NOD1
9 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.54 NOD2 IRGM
10 response to peptidoglycan GO:0032494 9.52 NOD2 IL6
11 positive regulation of xenophagy GO:1904417 9.51 NOD2 NOD1
12 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.49 NOD2 NOD1
13 carnitine transport GO:0015879 9.43 SLC22A5 SLC22A4
14 pattern recognition receptor signaling pathway GO:0002221 9.4 NOD2 NOD1
15 carnitine transmembrane transport GO:1902603 9.32 SLC22A5 SLC22A4
16 protein lipidation involved in autophagosome assembly GO:0061739 9.26 IRGM ATG16L1
17 quaternary ammonium group transport GO:0015697 9.16 SLC22A5 SLC22A4
18 detection of biotic stimulus GO:0009595 8.96 NOD2 NOD1
19 positive regulation of interleukin-17 production GO:0032740 8.8 PRKCQ NOD2 IL6

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

# Name GO ID Score Top Affiliating Genes
1 peptidoglycan binding GO:0042834 9.32 NOD2 NOD1
2 pattern recognition receptor activity GO:0038187 9.26 NOD2 NOD1
3 quaternary ammonium group transmembrane transporter activity GO:0015651 9.16 SLC22A5 SLC22A4
4 carnitine transmembrane transporter activity GO:0015226 8.96 SLC22A5 SLC22A4
5 CARD domain binding GO:0050700 8.8 NOD2 NOD1 IRGM

Sources for Inflammatory Bowel Disease 1

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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