MCID: RFR013
MIFTS: 35

Refractory Celiac Disease

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Refractory Celiac Disease

MalaCards integrated aliases for Refractory Celiac Disease:

Name: Refractory Celiac Disease 58 17
Refractory Sprue 58
Refractory Cd 58

Characteristics:

Orphanet epidemiological data:

58
refractory celiac disease
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

ICD10 via Orphanet 33 K90.0
Orphanet 58 ORPHA398063

Summaries for Refractory Celiac Disease

MalaCards based summary : Refractory Celiac Disease, also known as refractory sprue, is related to microscopic colitis and celiac disease 1. An important gene associated with Refractory Celiac Disease is CD226 (CD226 Molecule), and among its related pathways/superpathways are Hematopoietic Stem Cells and Lineage-specific Markers and Dendritic Cells Developmental Lineage Pathway. The drugs Prednisone and Infliximab have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and small intestine, and related phenotypes are hematopoietic system and immune system

Related Diseases for Refractory Celiac Disease

Diseases related to Refractory Celiac Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 microscopic colitis 29.5 IL15 IFNG HLA-DQB1
2 celiac disease 1 29.1 MYO9B ITGAE IL15 IFNG HLA-DQB1 FABP2
3 common variable immunodeficiency 28.4 LRBA IL15 IFNG HLA-DQB1
4 inflammatory bowel disease 27.1 MYO9B LRBA ITGAE IL15 IFNG HLA-DQB1
5 enteropathy-associated t-cell lymphoma 10.6
6 lymphoma 10.2
7 wheat allergy 10.2 HLA-DQB1 FABP2
8 diarrhea 10.2
9 chronic beryllium disease 10.1 IFNG HLA-DQB1
10 idiopathic bronchiectasis 10.1 IFNG HLA-DQB1
11 autoimmune disease 10.1
12 cytomegalovirus retinitis 10.1 IFNG HLA-DQB1
13 cystic echinococcosis 10.1 IFNG HLA-DQB1
14 peanut allergy 10.1 IFNG HLA-DQB1
15 allergic bronchopulmonary aspergillosis 10.1 IFNG HLA-DQB1
16 rheumatic fever 10.0 IFNG HLA-DQB1
17 autoimmune enteropathy 10.0
18 severe immune-mediated enteropathy 10.0
19 graft-versus-host disease 10.0 IFNG HLA-DQB1
20 lymphocytic colitis 10.0
21 vogt-koyanagi-harada disease 10.0 IFNG HLA-DQB1
22 dermatitis herpetiformis 10.0 MYO9B HLA-DQB1
23 scrub typhus 10.0 IL15 IFNG
24 typhoid fever 10.0 IFNG HLA-DQB1
25 retinal cone dystrophy 1 10.0
26 intestinal disease 10.0
27 splenomegaly 10.0
28 melioidosis 9.9 IL15 IFNG
29 tropical spastic paraparesis 9.9 IL15 IFNG
30 splenic disease 9.9 ITGAE IFNG
31 enterocolitis 9.9
32 ventricular fibrillation, paroxysmal familial, 1 9.9
33 cyanosis, transient neonatal 9.9
34 pneumatosis cystoides intestinalis 9.9
35 lymph node disease 9.9 ITGAE IFNG
36 salmonellosis 9.9 IL15 IFNG
37 mumps 9.8 IFNG HLA-DQB1
38 immunoglobulin a deficiency 1 9.8
39 vasculitis, lymphocytic, nodular 9.8
40 esophagitis, eosinophilic, 1 9.8
41 human herpesvirus 8 9.8
42 peripheral t-cell lymphoma 9.8
43 t-cell large granular lymphocyte leukemia 9.8
44 colitis 9.8
45 collagenous colitis 9.8
46 jejunoileitis 9.8
47 non-alcoholic steatohepatitis 9.8
48 osteomyelitis 9.8
49 tropical sprue 9.8
50 giardiasis 9.8

Graphical network of the top 20 diseases related to Refractory Celiac Disease:



Diseases related to Refractory Celiac Disease

Symptoms & Phenotypes for Refractory Celiac Disease

MGI Mouse Phenotypes related to Refractory Celiac Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 CD226 HLA-DQB1 IFNG IL15 ITGAE LRBA
2 immune system MP:0005387 9.17 CD226 HLA-DQB1 IFNG IL15 ITGAE LRBA

Drugs & Therapeutics for Refractory Celiac Disease

Drugs for Refractory Celiac Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Infliximab Approved Phase 4 170277-31-3
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
4
Azathioprine Approved Phase 4 446-86-6 2265
5
Budesonide Approved Phase 4 51333-22-3 63006 5281004
6 Mesalamine Phase 4 89-57-6
7 Anti-Inflammatory Agents, Non-Steroidal Phase 4
8 Respiratory System Agents Phase 4
9 Anti-Asthmatic Agents Phase 4
10 Bronchodilator Agents Phase 4
11
rituximab Approved Phase 2 174722-31-7 10201696
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
14
Neomycin Approved, Vet_approved Phase 2 1404-04-2 8378
15
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
16
Fluconazole Approved, Investigational Phase 2 86386-73-4 3365
17
Vancomycin Approved Phase 2 1404-90-6 14969 441141
18
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
19
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
20
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
21
Diphenhydramine Approved, Investigational Phase 1, Phase 2 58-73-1, 147-24-0 3100
22
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
23
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
24
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
25
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
26 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
27
Bevacizumab Approved, Investigational Phase 2 216974-75-3
28 Vedolizumab Approved Phase 2 943609-66-3
29
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
30
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
31
Mycophenolic acid Approved Phase 2 24280-93-1 446541
32
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
33 Bendamustine Hydrochloride Phase 2
34 Antifungal Agents Phase 2
35 Laxatives Phase 2
36 Cytochrome P-450 Enzyme Inhibitors Phase 2
37 Cathartics Phase 2
38 Polyethylene glycol 3350 Phase 2
39 Antineoplastic Agents, Hormonal Phase 1, Phase 2
40 Antibodies Phase 1, Phase 2
41 Immunoglobulins Phase 1, Phase 2
42 Hypnotics and Sedatives Phase 1, Phase 2
43 Analgesics, Non-Narcotic Phase 1, Phase 2
44 Dermatologic Agents Phase 1, Phase 2
45 Analgesics Phase 1, Phase 2
46 Anesthetics Phase 1, Phase 2
47 Anti-Allergic Agents Phase 1, Phase 2
48 Rho(D) Immune Globulin Phase 1, Phase 2
49 Immunoglobulins, Intravenous Phase 1, Phase 2
50 Histamine Antagonists Phase 1, Phase 2

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Sirolimus in the Treatment of Crohn's Disease With Stenosis Unknown status NCT02675153 Phase 4 Sirolimus;5-ASA, Prednisone, Azathioprine or Remicade
2 Open-label Withdrawal Trial of Budesonide in Patients With Immune Mediated Enteropathies Recruiting NCT03866538 Phase 4 Withdrawal of Oral Budesonide
3 Effect of Addition of Short Course of Prednisolone to Gluten Free Diet and Gluten Free Diet Alone in the Recovery of Clinical, Histological and Immunological Features in Naive Adult Patients With Celiac Disease Completed NCT01045837 Phase 2, Phase 3 Prednisolone and Gluten free diet
4 Phase II Study for Treatment of Patients With Relapsed or Primary Refractory Aggressive B- Cell NHL and Anthracycline Chemotherapy Pretreatment, Who Received or Did Not Qualify for Autologous Stem Cell Transplantation. Unknown status NCT00385125 Phase 2 Bendamustine;Rituximab
5 Adoptive Therapy With MB-CART19.1 in Patients With Relapsed/Refractory CD19-positive B Cell Acute Lymphoblastic Leukemia Unknown status NCT03321123 Phase 2 MB-CART19.1
6 A Phase 2a, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of AMG 714 in Adult Patients With Type II Refractory Celiac Disease, an In Situ Small Bowel T Cell Lymphoma Completed NCT02633020 Phase 2
7 Phase I/II Study Concomitant High-Dose Radio-Immuno- and Chemotherapy With Simultaneous Application of Zevalin and BEAM Followed by Autologous Peripheral Stem Cell Transplantation in Relapsed and Refractory CD 20+ Non-Hodgkin's Lymphoma Completed NCT00521560 Phase 2 Zevalin
8 Thalidomide in Inducing and Maintaining Remission of Crohn's Disease Completed NCT02501291 Phase 2 Thalidomide
9 An Open-Label Pilot Study of Fundamental Modification of the Gut Microbiota in the Treatment of Refractory Crohn's Disease Active, not recruiting NCT03476317 Phase 2 Vancomycin;Neomycin;Ciprofloxacin;Polyethylene Glycol 3350;Fluconazole
10 Autologous Hematopoietic Stem Cell Transplantation for Refractory Crohn's Disease Not yet recruiting NCT04224558 Phase 1, Phase 2 Mesna;Cyclophosphamide;Filgrastim;Fludarabine;Methylprednisolone;Diphenhydramine;Acetaminophen;anti-thymocyte globulin (rabbit);lymphocyte immune globulin;Cytoxan
11 Phase II Study of Brentuximab Vedotin and Bevacizumab in Men With Refractory CD-30 Positive Germ Cell Tumors Suspended NCT02988843 Phase 2 Brentuximab Vedotin;Bevacizumab
12 Maintenance in Autologous Stem Cell Transplant for Crohn's Disease (MASCT - CD) Suspended NCT03219359 Phase 2 Cyclophosphamide;Cyclophosphamide;Thymoglobulin;Methylprednisolone;Vedolizumab
13 Allogeneic Hematopoietic Cell Transplantation for Patients With Treatment-Refractory Crohn's Disease: A Phase 2 Study Terminated NCT01570348 Phase 2 Cyclophosphamide;Fludarabine Phosphate;Mycophenolate Mofetil;Mycophenolic Acid;Tacrolimus
14 A Pilot Study of Autologous Hematopoietic Stem Cell Transplantation With Post-Transplant Ultra Low-Dose IL-2 for Refractory Crohn's Disease Withdrawn NCT02676622 Phase 2 mobilization of stem cells to prepare for Leukapheresis;Preparative regimen 4-6 weeks after Leukapheresis;Low-dose IL-2 administration
15 Phase I Study of the Humanized Mik-Beta-1 Monoclonal Antibody Directed Toward IL-2/IL-15R Beta (CD122) That Blocks IL-15 Action In Patients With Refractory Celiac Disease Completed NCT01893775 Phase 1
16 Pediatric and Young Adult Leukemia Adoptive Therapy (PLAT)-03: A Pilot Feasibility and Safety Study of CD19t T-Antigen Presenting Cells (T-APCs) Following CAR T Cell Immunotherapy for CD19+ Leukemia Recruiting NCT03186118 Phase 1
17 Phase I Trial, With an Expansion Cohort, of CPX-351 (Cytarabine:Daunorubicin) Liposome Injection in Combination With Gemtuzumab in Subjects With Acute Myeloid Leukemia >55 Years of Age Who Have Not Been Treated With Intensive Chemotherapy Suspended NCT03878927 Phase 1 CPX-351;Gemtuzumab Ozogamicin
18 Prospective Randomized Comparison Between Axial- and Lateral-viewing Capsule Endoscopy Systems in Celiac Patients: a Pilot Study Unknown status NCT03095573
19 Induced Adult Refractory Active Crohn's Disease Clinical Relieving by Using Thalidomide: A Randomized, Double-blind, Placebo-controlled Multicenter Clinical Study Unknown status NCT02956538 Early Phase 1 Thalidomide;placebo(for thalidomide)
20 Study of the Safety and Efficacy of Neurostimulation of the Cholinergic Anti-Inflammatory Pathway Using a Vagal Nerve Stimulation Device in Patients With Active Refractory Crohn's Disease Unknown status NCT02311660
21 An In-vitro Gluten Challenge on the Immunologic Response in Celiac Disease. Completed NCT01909050
22 AMG 714 Expanded Access Program Available NCT03439475
23 Pathogenic Study of Adult Immune Enteropathies Not yet recruiting NCT04280510
24 A Pilot Study of Autologous Hematopoietic Stem Cell Transplantation With Post-transplant Cyclophosphamide for Children and Young Adults With Refractory Crohn's Disease. Withdrawn NCT02225795

Search NIH Clinical Center for Refractory Celiac Disease

Genetic Tests for Refractory Celiac Disease

Anatomical Context for Refractory Celiac Disease

MalaCards organs/tissues related to Refractory Celiac Disease:

40
T Cells, B Cells, Small Intestine, Liver, Myeloid, Lymph Node, Colon

Publications for Refractory Celiac Disease

Articles related to Refractory Celiac Disease:

(show top 50) (show all 244)
# Title Authors PMID Year
1
Type 2 refractory celiac disease on third-generation capsule endoscopy and enteroscopy: typical appearance of ulcerative jejunitis. 61
31858505 2020
2
Deregulation of miRNAs-cMYC circuits is a key event in refractory celiac disease type-2 lymphomagenesis. 61
32420596 2020
3
Refractory Celiac Disease. 61
32185560 2020
4
Ulcerative jejunitis in refractory celiac disease diagnosed on capsule endoscopy. 61
32113889 2020
5
Refractory celiac disease type II: An atypical case highlighting limitations of the current classification system. 61
32010998 2020
6
The intracellular intensity of CD3 on aberrant intraepithelial lymphocytes is a prognostic factor of the progression to overt lymphoma in Refractory Celiac Disease Type II (RCD-II/Pre-Enteropathy-Associated T cell Lymphoma). 61
32015237 2020
7
The continuous rediscovery and the benefit-risk ratio of thioguanine, a comprehensive review. 61
32090622 2020
8
Celiac disease: a comprehensive current review. 61
31331324 2019
9
Сapsule endoscopy for diagnosis of celiac disease. 61
31094178 2019
10
Capsule Endoscopy and Enteroscopy in Celiac Disease. 61
30711212 2019
11
Refractory Celiac Disease. 61
30711206 2019
12
Clinical Insignficance of Monoclonal T-Cell Populations and Duodenal Intraepithelial T-Cell Phenotypes in Celiac and Nonceliac Patients. 61
30334829 2019
13
A Single-Tube, EuroClonality-Inspired, TRG Clonality Multiplex PCR Aids Management of Patients with Enteropathic Diseases, including from Formaldehyde-Fixed, Paraffin-Embedded Tissues. 61
30268943 2019
14
Recent advances in celiac disease and refractory celiac disease. 61
31297187 2019
15
Is It a Refractory Celiac Disease? 61
30201353 2019
16
Pathogenesis of Enteropathy-Associated T Cell Lymphoma. 61
29943210 2018
17
A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease. 61
29787419 2018
18
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. 61
29307846 2018
19
Collagenous Enteritis is Unlikely a Form of Aggressive Celiac Disease Despite Sharing HLA-DQ2/DQ8 Genotypes. 61
29324472 2018
20
An unexpected deterrent in diagnosing refractory celiac disease and enteropathy-associated T-cell lymphoma: a gluten-free diet. 61
30181834 2018
21
Celiac disease in 2018. 61
30223658 2018
22
A Pitfall in Suspected (refractory) Celiac Disease: Losartan-Induced Enteropathy. 61
29109495 2017
23
Indications and Use of the Gluten Contamination Elimination Diet for Patients with Non-Responsive Celiac Disease. 61
29057833 2017
24
MR enterography in nonresponsive adult celiac disease: Correlation with endoscopic, pathologic, serologic, and genetic features. 61
28182308 2017
25
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease. 61
28539227 2017
26
Tests for Serum Transglutaminase and Endomysial Antibodies Do Not Detect Most Patients With Celiac Disease and Persistent Villous Atrophy on Gluten-free Diets: a Meta-analysis. 61
28545781 2017
27
Discovery and characterization of a novel humanized anti-IL-15 antibody and its relevance for the treatment of refractory celiac disease and eosinophilic esophagitis. 61
28581883 2017
28
Refractory Celiac Disease Successfully Treated With Azathioprine. 61
28725310 2017
29
Open-Capsule Budesonide for Refractory Celiac Disease. 61
28323276 2017
30
A Novel Patient-Derived Conceptual Model of the Impact of Celiac Disease in Adults: Implications for Patient-Reported Outcome and Health-Related Quality-of-Life Instrument Development. 61
28408006 2017
31
Beyond moulage sign and TTG levels: the role of cross-sectional imaging in celiac sprue. 61
28154909 2017
32
CD4 T-cell cytokines synergize to induce proliferation of malignant and nonmalignant innate intraepithelial lymphocytes. 61
28049849 2017
33
Cross-sectional imaging in refractory celiac disease. 61
28084545 2017
34
Outcome of Referrals for Non-Responsive Celiac Disease in a Tertiary Center: Low Incidence of Refractory Celiac Disease in the Netherlands. 61
28125074 2017
35
Refractory coeliac disease a reality: views from Pakistan. 61
26917496 2017
36
Current and novel therapeutic strategies in celiac disease. 61
27322016 2016
37
Serendipity in Refractory Celiac Disease: Full Recovery of Duodenal Villi and Clinical Symptoms after Fecal Microbiota Transfer. 61
27689204 2016
38
Detection of Active Epstein-Barr Virus Infection in Duodenal Mucosa of Patients With Refractory Celiac Disease. 61
27033429 2016
39
Enteroscopy and radiology for the management of celiac disease complications: Time for a pragmatic roadmap. 61
27012449 2016
40
Refractory celiac disease and EATL patients show severe malnutrition and malabsorption at diagnosis. 61
25979847 2016
41
A Refractory Celiac Patient Successfully Treated With Mesenchymal Stem Cell Infusions. 61
27087453 2016
42
Diffuse Autoimmune Enteropathy and Colopathy in an Adult Patient Successfully Treated With Adalimumab and a Review of the Literature. 61
25379737 2016
43
Enteropathy Associated with Olmesartan. 61
28868440 2016
44
Refractory Celiac Disease Type II: A Case Report that Demonstrates the Diagnostic and Therapeutic Challenges. 61
28868442 2016
45
Nonalcoholic steatohepatitis cirrhosis and type 1 refractory celiac disease: More than a fortuitous association? 61
26526847 2016
46
Improving outcomes of refractory celiac disease - current and emerging treatment strategies. 61
27536154 2016
47
A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease. 61
26686526 2016
48
Refractory celiac disease. 61
26603931 2016
49
Two coincident cases of easily curable 'refractory sprue'. 61
25717152 2015
50
Celiac Crisis in Refractory Celiac Disease Type I with Neurological Manifestations: A Diagnostic Dilemma. 61
26522202 2015

Variations for Refractory Celiac Disease

Expression for Refractory Celiac Disease

Search GEO for disease gene expression data for Refractory Celiac Disease.

Pathways for Refractory Celiac Disease

GO Terms for Refractory Celiac Disease

Biological processes related to Refractory Celiac Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.32 IL15 IFNG
2 interferon-gamma-mediated signaling pathway GO:0060333 9.26 IFNG HLA-DQB1
3 positive regulation of phagocytosis GO:0050766 9.16 IL15 IFNG
4 negative regulation of smooth muscle cell proliferation GO:0048662 8.96 IL15 IFNG
5 macrophage differentiation GO:0030225 8.62 IL15 IFNG

Sources for Refractory Celiac Disease

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