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 Cell Differentiation Pathways and Lineage-specific Markers and Dendritic Cells Developmental Lineage Pathway. The drugs Budesonide and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and lymph node, 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 79)
# 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 28.8 LRBA IL15 IFNG
4 inflammatory bowel disease 27.1 MYO9B LRBA ITGAE IL15 IFNG HLA-DQB1
5 enteropathy-associated t-cell lymphoma 10.6
6 diarrhea 10.2
7 chronic beryllium disease 10.1 IFNG HLA-DQB1
8 idiopathic bronchiectasis 10.1 IFNG HLA-DQB1
9 autoimmune disease 10.1
10 lymphoma 10.1
11 cytomegalovirus retinitis 10.1 IFNG HLA-DQB1
12 latex allergy 10.1 IFNG HLA-DQB1
13 cystic echinococcosis 10.1 IFNG HLA-DQB1
14 peanut allergy 10.1 IFNG HLA-DQB1
15 rheumatic fever 10.0 IFNG HLA-DQB1
16 autoimmune enteropathy 10.0
17 severe immune-mediated enteropathy 10.0
18 vogt-koyanagi-harada disease 10.0 IFNG HLA-DQB1
19 lymphocytic colitis 10.0
20 dermatitis herpetiformis 10.0 MYO9B HLA-DQB1
21 graft-versus-host disease 10.0 IFNG HLA-DQB1
22 scrub typhus 10.0 IL15 IFNG
23 typhoid fever 10.0 IFNG HLA-DQB1
24 intestinal disease 10.0
25 splenomegaly 10.0
26 melioidosis 9.9 IL15 IFNG
27 tropical spastic paraparesis 9.9 IL15 IFNG
28 lymph node disease 9.9 ITGAE IFNG
29 enterocolitis 9.9
30 ventricular fibrillation, paroxysmal familial, 1 9.9
31 cyanosis, transient neonatal 9.9
32 pneumatosis cystoides intestinalis 9.9
33 salmonellosis 9.8 IL15 IFNG
34 mumps 9.8 IFNG HLA-DQB1
35 immunoglobulin a deficiency 1 9.8
36 retinal cone dystrophy 1 9.8
37 vasculitis, lymphocytic, nodular 9.8
38 esophagitis, eosinophilic, 1 9.8
39 human herpesvirus 8 9.8
40 peripheral t-cell lymphoma 9.8
41 t-cell large granular lymphocyte leukemia 9.8
42 colitis 9.8
43 collagenous colitis 9.8
44 jejunoileitis 9.8
45 osteomyelitis 9.8
46 lymphocytic leukemia 9.8
47 tropical sprue 9.8
48 giardiasis 9.8
49 esophagitis 9.8
50 leukemia 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 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 4 51333-22-3 63006 5281004
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
4
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
5
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
6
Azathioprine Approved Phase 4 446-86-6 2265
7
Infliximab Approved Phase 4 170277-31-3
8 Gastrointestinal Agents Phase 4
9 Hormone Antagonists Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12 Autonomic Agents Phase 4
13 glucocorticoids Phase 4
14 Hormones Phase 4
15 Respiratory System Agents Phase 4
16 Anti-Asthmatic Agents Phase 4
17 Bronchodilator Agents Phase 4
18 Antifungal Agents Phase 4
19 Dermatologic Agents Phase 4
20 Mesalamine Phase 4 89-57-6
21
rituximab Approved Phase 2 174722-31-7 10201696
22
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
23
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
24
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
25 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
26
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
27
Fluconazole Approved, Investigational Phase 2 86386-73-4 3365
28
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
29
Neomycin Approved, Vet_approved Phase 2 1404-04-2 8378
30
Vancomycin Approved Phase 2 1404-90-6 441141 14969
31 Vedolizumab Approved Phase 2 943609-66-3
32
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
33
Mycophenolic acid Approved Phase 2 24280-93-1 446541
34
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
35
Bevacizumab Approved, Investigational Phase 2 216974-75-3
36
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
37
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
38 Bendamustine Hydrochloride Phase 2
39 Hypnotics and Sedatives Phase 2
40 Antiemetics Phase 2
41 Methylprednisolone Acetate Phase 2
42 Neuroprotective Agents Phase 2
43 Cathartics Phase 2
44 Polyethylene glycol 3350 Phase 2
45 Cytochrome P-450 Enzyme Inhibitors Phase 2
46 Laxatives Phase 2
47 Topoisomerase Inhibitors Phase 2
48 Cytochrome P-450 CYP1A2 Inhibitors Phase 2
49 Steroid Synthesis Inhibitors Phase 2
50 Cytochrome P-450 CYP2C9 Inhibitors Phase 2

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Open-label Withdrawal Trial of Budesonide in Patients With Immune Mediated Enteropathies Recruiting NCT03866538 Phase 4 Withdrawal of Oral Budesonide
2 Efficacy and Safety of Sirolimus in the Treatment of Crohn's Disease With Stenosis Recruiting NCT02675153 Phase 4 Sirolimus;5-ASA, Prednisone, Azathioprine or Remicade
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 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
6 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
7 Thalidomide in Inducing and Maintaining Remission of Crohn's Disease Completed NCT02501291 Phase 2 Thalidomide
8 An Open-Label Pilot Study of Fundamental Modification of the Gut Microbiota in the Treatment of Refractory Crohn's Disease Recruiting NCT03476317 Phase 2 Vancomycin;Neomycin;Ciprofloxacin;Polyethylene Glycol 3350;Fluconazole
9 Maintenance in Autologous Stem Cell Transplant for Crohn's Disease (MASCT - CD) Recruiting NCT03219359 Phase 2 Cyclophosphamide;Cyclophosphamide;Thymoglobulin;Methylprednisolone;Vedolizumab
10 Allogeneic Hematopoietic Cell Transplantation for Patients With Treatment-Refractory Crohn's Disease: A Phase 2 Study Active, not recruiting NCT01570348 Phase 2 Cyclophosphamide;Fludarabine Phosphate;Mycophenolate Mofetil;Mycophenolic Acid;Tacrolimus
11 Adoptive Therapy With MB-CART19.1 in Patients With Relapsed/Refractory CD19-positive B Cell Acute Lymphoblastic Leukemia Not yet recruiting NCT03321123 Phase 2 MB-CART19.1
12 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
13 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
14 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 Recruiting NCT01893775 Phase 1
15 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
16 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 Recruiting NCT03878927 Phase 1 CPX-351;Gemtuzumab Ozogamicin
17 Prospective Randomized Comparison Between Axial- and Lateral-viewing Capsule Endoscopy Systems in Celiac Patients: a Pilot Study Unknown status NCT03095573
18 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)
19 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
20 An In-vitro Gluten Challenge on the Immunologic Response in Celiac Disease. Completed NCT01909050
21 AMG 714 Expanded Access Program Available NCT03439475
22 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, Lymph Node, Small Intestine, Liver, Myeloid, Colon

Publications for Refractory Celiac Disease

Articles related to Refractory Celiac Disease:

(show top 50) (show all 240)
# Title Authors PMID Year
1
Refractory Celiac Disease Type II: An Atypical Case Highlighting Limitations of the Current Classification System. 61
32010998 2020
2
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
3
Type 2 refractory celiac disease on third-generation capsule endoscopy and enteroscopy: typical appearance of ulcerative jejunitis. 61
31858505 2019
4
Celiac disease: a comprehensive current review. 61
31331324 2019
5
Capsule Endoscopy and Enteroscopy in Celiac Disease. 61
30711212 2019
6
Сapsule endoscopy for diagnosis of celiac disease. 61
31094178 2019
7
Refractory Celiac Disease. 61
30711206 2019
8
Clinical Insignficance of Monoclonal T-Cell Populations and Duodenal Intraepithelial T-Cell Phenotypes in Celiac and Nonceliac Patients. 61
30334829 2019
9
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
10
Is It a Refractory Celiac Disease? 61
30201353 2019
11
Recent advances in celiac disease and refractory celiac disease. 61
31297187 2019
12
A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease. 61
29787419 2018
13
Pathogenesis of Enteropathy-Associated T Cell Lymphoma. 61
29943210 2018
14
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. 61
29307846 2018
15
Collagenous Enteritis is Unlikely a Form of Aggressive Celiac Disease Despite Sharing HLA-DQ2/DQ8 Genotypes. 61
29324472 2018
16
An unexpected deterrent in diagnosing refractory celiac disease and enteropathy-associated T-cell lymphoma: a gluten-free diet. 61
30181834 2018
17
Celiac disease in 2018. 61
30223658 2018
18
A Pitfall in Suspected (refractory) Celiac Disease: Losartan-Induced Enteropathy. 61
29109495 2017
19
MR enterography in nonresponsive adult celiac disease: Correlation with endoscopic, pathologic, serologic, and genetic features. 61
28182308 2017
20
Indications and Use of the Gluten Contamination Elimination Diet for Patients with Non-Responsive Celiac Disease. 61
29057833 2017
21
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease. 61
28539227 2017
22
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
23
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
24
Open-Capsule Budesonide for Refractory Celiac Disease. 61
28323276 2017
25
Refractory Celiac Disease Successfully Treated With Azathioprine. 61
28725310 2017
26
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
27
Beyond moulage sign and TTG levels: the role of cross-sectional imaging in celiac sprue. 61
28154909 2017
28
CD4 T-cell cytokines synergize to induce proliferation of malignant and nonmalignant innate intraepithelial lymphocytes. 61
28049849 2017
29
Cross-sectional imaging in refractory celiac disease. 61
28084545 2017
30
Outcome of Referrals for Non-Responsive Celiac Disease in a Tertiary Center: Low Incidence of Refractory Celiac Disease in the Netherlands. 61
28125074 2017
31
Refractory coeliac disease a reality: views from Pakistan. 61
26917496 2017
32
Serendipity in Refractory Celiac Disease: Full Recovery of Duodenal Villi and Clinical Symptoms after Fecal Microbiota Transfer. 61
27689204 2016
33
Current and novel therapeutic strategies in celiac disease. 61
27322016 2016
34
Detection of Active Epstein-Barr Virus Infection in Duodenal Mucosa of Patients With Refractory Celiac Disease. 61
27033429 2016
35
Refractory celiac disease and EATL patients show severe malnutrition and malabsorption at diagnosis. 61
25979847 2016
36
Enteroscopy and radiology for the management of celiac disease complications: Time for a pragmatic roadmap. 61
27012449 2016
37
A Refractory Celiac Patient Successfully Treated With Mesenchymal Stem Cell Infusions. 61
27087453 2016
38
Diffuse Autoimmune Enteropathy and Colopathy in an Adult Patient Successfully Treated With Adalimumab and a Review of the Literature. 61
25379737 2016
39
Enteropathy Associated with Olmesartan. 61
28868440 2016
40
Refractory Celiac Disease Type II: A Case Report that Demonstrates the Diagnostic and Therapeutic Challenges. 61
28868442 2016
41
Nonalcoholic steatohepatitis cirrhosis and type 1 refractory celiac disease: More than a fortuitous association? 61
26526847 2016
42
A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease. 61
26686526 2016
43
Improving outcomes of refractory celiac disease - current and emerging treatment strategies. 61
27536154 2016
44
Refractory celiac disease. 61
26603931 2016
45
Two coincident cases of easily curable 'refractory sprue'. 61
25717152 2015
46
Celiac Crisis in Refractory Celiac Disease Type I with Neurological Manifestations: A Diagnostic Dilemma. 61
26522202 2015
47
CD103+ γδ T cell large granular lymphocytosis in a patient with refractory celiac disease: a diagnostic enigma. 61
25637255 2015
48
Serum intestinal-fatty acid binding protein as a biomarker for refractory celiac disease. 61
26114190 2015
49
A Review of Current Evidence of Olmesartan Medoxomil Mimicking Symptoms of Celiac Disease. 61
24682568 2015
50
Early, non-refractory celiac disease associated with microscopic colitis and splenomegaly. 61
25933449 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 9.26 IL15 IFNG
2 interferon-gamma-mediated signaling pathway GO:0060333 9.16 IFNG HLA-DQB1
3 positive regulation of phagocytosis GO:0050766 8.96 IL15 IFNG
4 negative regulation of smooth muscle cell proliferation GO:0048662 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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