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 59 17
Refractory Sprue 59
Refractory Cd 59

Characteristics:

Orphanet epidemiological data:

59
refractory celiac disease
Inheritance: Not applicable; Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 34 K90.0
Orphanet 59 ORPHA398063

Summaries for Refractory Celiac Disease

MalaCards based summary : Refractory Celiac Disease, also known as refractory sprue, is related to celiac disease 1 and microscopic colitis. 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 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 63)
# Related Disease Score Top Affiliating Genes
1 celiac disease 1 30.2 MYO9B IL15 HLA-DQB1
2 microscopic colitis 30.2 IFNG HLA-DQB1
3 enteropathy-associated t-cell lymphoma 10.6
4 chronic beryllium disease 10.2 IFNG HLA-DQB1
5 idiopathic bronchiectasis 10.2 IFNG HLA-DQB1
6 diarrhea 10.2
7 peanut allergy 10.1 IFNG HLA-DQB1
8 cytomegalovirus retinitis 10.1 IFNG HLA-DQB1
9 autoimmune disease 10.1
10 lymphoma 10.1
11 autoimmune enteropathy 10.0
12 severe immune-mediated enteropathy 10.0
13 brachydactyly, type b2 10.0 IL15 IFNG
14 lymphocytic colitis 10.0
15 toxoplasmosis 10.0 IFNG HLA-DQB1
16 rasmussen encephalitis 10.0 IL15 IFNG
17 intestinal disease 10.0
18 splenomegaly 10.0
19 graft-versus-host disease 9.9 IFNG HLA-DQB1
20 sezary's disease 9.9 IL15 IFNG
21 enterocolitis 9.9
22 ventricular fibrillation, paroxysmal familial, 1 9.9
23 cyanosis, transient neonatal 9.9
24 pneumatosis cystoides intestinalis 9.9
25 immunoglobulin a deficiency 1 9.8
26 retinal cone dystrophy 1 9.8
27 esophagitis, eosinophilic, 1 9.8
28 human herpesvirus 8 9.8
29 inflammatory bowel disease 9.8
30 peripheral t-cell lymphoma 9.8
31 t-cell large granular lymphocyte leukemia 9.8
32 colitis 9.8
33 collagenous colitis 9.8
34 jejunoileitis 9.8
35 osteomyelitis 9.8
36 lymphocytic leukemia 9.8
37 tropical sprue 9.8
38 giardiasis 9.8
39 esophagitis 9.8
40 common variable immunodeficiency 9.8
41 leukemia 9.8
42 pancytopenia 9.8
43 toxic shock syndrome 9.8
44 gastritis 9.8
45 lymphocytic gastritis 9.8
46 pyoderma 9.8
47 liver cirrhosis 9.8
48 axonal neuropathy 9.8
49 peptic ulcer disease 9.8
50 pyoderma gangrenosum 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:

46
# 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 72)
# 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
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616 46835353
5
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
6
Infliximab Approved Phase 4 170277-31-3
7
Azathioprine Approved Phase 4 446-86-6 2265
8 glucocorticoids Phase 4
9 Gastrointestinal Agents Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Hormones Phase 4
12 Peripheral Nervous System Agents Phase 4
13 Antineoplastic Agents, Hormonal Phase 4
14 Hormone Antagonists Phase 4
15 Autonomic Agents Phase 4
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
17 Respiratory System Agents Phase 4
18 Anti-Asthmatic Agents Phase 4
19 Bronchodilator Agents Phase 4
20 Antifungal Agents Phase 4
21 Mesalamine Phase 4 89-57-6
22 Dermatologic Agents Phase 4
23
rituximab Approved Phase 2 174722-31-7 10201696
24
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
25
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
26
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
27
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
28
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
29
Fluconazole Approved, Investigational Phase 2 86386-73-4 3365
30
Neomycin Approved, Vet_approved Phase 2 1404-04-2 8378
31
Vancomycin Approved Phase 2 1404-90-6 441141 14969
32 Vedolizumab Approved Phase 2 943609-66-3
33
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
34
Mycophenolic acid Approved Phase 2 24280-93-1 446541
35
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
36
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
37
Bevacizumab Approved, Investigational Phase 2 216974-75-3
38
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
39
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
40 Bendamustine Hydrochloride Phase 2
41 Hypnotics and Sedatives Phase 2
42 Antiemetics Phase 2
43 Neuroprotective Agents Phase 2
44 Methylprednisolone Acetate Phase 2
45 Prednisolone acetate Phase 2
46 14-alpha Demethylase Inhibitors Phase 2
47 Cytochrome P-450 CYP2C9 Inhibitors Phase 2
48 Cytochrome P-450 Enzyme Inhibitors Phase 2
49 Cathartics Phase 2
50 Steroid Synthesis 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 Not yet 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:

41
T Cells, B Cells, Small Intestine, Myeloid, Lymph Node, Colon, Liver

Publications for Refractory Celiac Disease

Articles related to Refractory Celiac Disease:

(show top 50) (show all 237)
# Title Authors PMID Year
1
Celiac disease: a comprehensive current review. 38
31331324 2019
2
Capsule Endoscopy and Enteroscopy in Celiac Disease. 38
30711212 2019
3
Сapsule endoscopy for diagnosis of celiac disease. 38
31094178 2019
4
Refractory Celiac Disease. 38
30711206 2019
5
Clinical Insignficance of Monoclonal T-Cell Populations and Duodenal Intraepithelial T-Cell Phenotypes in Celiac and Nonceliac Patients. 38
30334829 2019
6
A Single-Tube, EuroClonality-Inspired, TRG Clonality Multiplex PCR Aids Management of Patients with Enteropathic Diseases, including from Formaldehyde-Fixed, Paraffin-Embedded Tissues. 38
30268943 2019
7
Is It a Refractory Celiac Disease? 38
30201353 2019
8
Recent advances in celiac disease and refractory celiac disease. 38
31297187 2019
9
A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease. 38
29787419 2018
10
Pathogenesis of Enteropathy-Associated T Cell Lymphoma. 38
29943210 2018
11
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. 38
29307846 2018
12
Collagenous Enteritis is Unlikely a Form of Aggressive Celiac Disease Despite Sharing HLA-DQ2/DQ8 Genotypes. 38
29324472 2018
13
An unexpected deterrent in diagnosing refractory celiac disease and enteropathy-associated T-cell lymphoma: a gluten-free diet. 38
30181834 2018
14
Celiac disease in 2018. 38
30223658 2018
15
A Pitfall in Suspected (refractory) Celiac Disease: Losartan-Induced Enteropathy. 38
29109495 2017
16
MR enterography in nonresponsive adult celiac disease: Correlation with endoscopic, pathologic, serologic, and genetic features. 38
28182308 2017
17
Indications and Use of the Gluten Contamination Elimination Diet for Patients with Non-Responsive Celiac Disease. 38
29057833 2017
18
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease. 38
28539227 2017
19
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. 38
28545781 2017
20
Discovery and characterization of a novel humanized anti-IL-15 antibody and its relevance for the treatment of refractory celiac disease and eosinophilic esophagitis. 38
28581883 2017
21
Refractory Celiac Disease Successfully Treated With Azathioprine. 38
28725310 2017
22
Open-Capsule Budesonide for Refractory Celiac Disease. 38
28323276 2017
23
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. 38
28408006 2017
24
Beyond moulage sign and TTG levels: the role of cross-sectional imaging in celiac sprue. 38
28154909 2017
25
CD4 T-cell cytokines synergize to induce proliferation of malignant and nonmalignant innate intraepithelial lymphocytes. 38
28049849 2017
26
Cross-sectional imaging in refractory celiac disease. 38
28084545 2017
27
Outcome of Referrals for Non-Responsive Celiac Disease in a Tertiary Center: Low Incidence of Refractory Celiac Disease in the Netherlands. 38
28125074 2017
28
Refractory coeliac disease a reality: views from Pakistan. 38
26917496 2017
29
Serendipity in Refractory Celiac Disease: Full Recovery of Duodenal Villi and Clinical Symptoms after Fecal Microbiota Transfer. 38
27689204 2016
30
Current and novel therapeutic strategies in celiac disease. 38
27322016 2016
31
Detection of Active Epstein-Barr Virus Infection in Duodenal Mucosa of Patients With Refractory Celiac Disease. 38
27033429 2016
32
Enteroscopy and radiology for the management of celiac disease complications: Time for a pragmatic roadmap. 38
27012449 2016
33
Refractory celiac disease and EATL patients show severe malnutrition and malabsorption at diagnosis. 38
25979847 2016
34
A Refractory Celiac Patient Successfully Treated With Mesenchymal Stem Cell Infusions. 38
27087453 2016
35
Diffuse Autoimmune Enteropathy and Colopathy in an Adult Patient Successfully Treated With Adalimumab and a Review of the Literature. 38
25379737 2016
36
Enteropathy Associated with Olmesartan. 38
28868440 2016
37
Refractory Celiac Disease Type II: A Case Report that Demonstrates the Diagnostic and Therapeutic Challenges. 38
28868442 2016
38
Nonalcoholic steatohepatitis cirrhosis and type 1 refractory celiac disease: More than a fortuitous association? 38
26526847 2016
39
Improving outcomes of refractory celiac disease - current and emerging treatment strategies. 38
27536154 2016
40
A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease. 38
26686526 2016
41
Refractory celiac disease. 38
26603931 2016
42
Two coincident cases of easily curable 'refractory sprue'. 38
25717152 2015
43
Celiac Crisis in Refractory Celiac Disease Type I with Neurological Manifestations: A Diagnostic Dilemma. 38
26522202 2015
44
Serum intestinal-fatty acid binding protein as a biomarker for refractory celiac disease. 38
26114190 2015
45
CD103+ γδ T cell large granular lymphocytosis in a patient with refractory celiac disease: a diagnostic enigma. 38
25637255 2015
46
A Review of Current Evidence of Olmesartan Medoxomil Mimicking Symptoms of Celiac Disease. 38
24682568 2015
47
Early, non-refractory celiac disease associated with microscopic colitis and splenomegaly. 38
25933449 2015
48
[Histological diagnosis and complications of celiac disease. Update according to the new S2k guidelines]. 38
25820446 2015
49
[Rare diseases on the trail--the registry for refractory sprue]. 38
25821865 2015
50
Remission of Refractory Celiac Disease With Infliximab in a Pediatric Patient. 38
26157934 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 9.16 IL15 IFNG
2 interferon-gamma-mediated signaling pathway GO:0060333 8.96 IFNG HLA-DQB1
3 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 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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