MCID: RFR013
MIFTS: 36

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
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:

Orphanet 59 ORPHA398063
ICD10 via Orphanet 34 K90.0

Summaries for Refractory Celiac Disease

MalaCards based summary : Refractory Celiac Disease, also known as refractory sprue, is related to celiac disease 1 and lymphoma. An important gene associated with Refractory Celiac Disease is CD226 (CD226 Molecule), and among its related pathways/superpathways are Influenza A and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include t cells, lymph node 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 all 41)
# Related Disease Score Top Affiliating Genes
1 celiac disease 1 30.0 FABP2 HLA-DQB1 IFNG IL15 ITGAE MYO9B
2 lymphoma 10.2
3 enteropathy-associated t-cell lymphoma 10.2
4 chronic beryllium disease 10.0 HLA-DQB1 IFNG
5 cardiac sarcoidosis 10.0 HLA-DQB1 IFNG
6 idiopathic bronchiectasis 10.0 HLA-DQB1 IFNG
7 peanut allergy 10.0 HLA-DQB1 IFNG
8 cytomegalovirus retinitis 10.0 HLA-DQB1 IFNG
9 brachydactyly, type b2 10.0 IFNG IL15
10 rasmussen encephalitis 10.0 IFNG IL15
11 toxoplasmosis 9.9 HLA-DQB1 IFNG
12 sezary's disease 9.9 IFNG IL15
13 graft-versus-host disease 9.9 HLA-DQB1 IFNG
14 dermatitis herpetiformis 9.9 HLA-DQB1 MYO9B
15 lymphocytic colitis 9.8
16 pneumatosis cystoides intestinalis 9.8
17 cutaneous t cell lymphoma 9.8 IFNG IL15
18 spondylocarpotarsal synostosis syndrome 9.8
19 esophagitis, eosinophilic, 1 9.8
20 hematopoietic stem cell transplantation 9.8
21 leukemia 9.8
22 colitis 9.8
23 microscopic colitis 9.8
24 lymphocytic leukemia 9.8
25 esophagitis 9.8
26 diarrhea 9.8
27 pyoderma 9.8
28 intestinal disease 9.8
29 pyoderma gangrenosum 9.8
30 viral infectious disease 9.8
31 encephalitis 9.8
32 autoimmune enteropathy 9.8
33 nonalcoholic steatohepatitis 9.8
34 splenomegaly 9.8
35 mitochondrial neurogastrointestinal encephalomyopathy 9.8
36 autoimmune disease 9.8
37 autoimmune disease 1 9.8
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
39 crohn's disease 9.8
40 autoimmune disease of gastrointestinal tract 9.7 IFNG IL15 MYO9B
41 inflammatory bowel disease 9.1 HLA-DQB1 IFNG IL15 ITGAE LRBA MYO9B

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 all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
2
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
3
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
6 Methylprednisolone acetate Phase 2, Phase 3
7 Anti-Inflammatory Agents Phase 2, Phase 3
8 Hormone Antagonists Phase 2, Phase 3
9 Autonomic Agents Phase 2, Phase 3
10 Prednisolone acetate Phase 2, Phase 3
11 Hormones Phase 2, Phase 3
12 Peripheral Nervous System Agents Phase 2, Phase 3
13 Neuroprotective Agents Phase 2, Phase 3
14 Antiemetics Phase 2, Phase 3
15 glucocorticoids Phase 2, Phase 3
16 Gastrointestinal Agents Phase 2, Phase 3
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
18 Protective Agents Phase 2, Phase 3
19 Antineoplastic Agents, Hormonal Phase 2, Phase 3
20
Carmustine Approved, Investigational Phase 2 154-93-8 2578
21 Antibodies, Monoclonal Phase 2,Phase 1
22 Immunoglobulins Phase 2,Phase 1
23 Antibodies Phase 2,Phase 1
24 Immunologic Factors Phase 2,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Addition of Short Course of Prednisolone to Gluten Free Diet in Naive Celiac Disease Patients Completed NCT01045837 Phase 2, Phase 3 Prednisolone and Gluten free diet
2 Study to Evaluate the Efficacy and Safety of AMG 714 in Adult Patients With Type II Refractory Celiac Disease Completed NCT02633020 Phase 2
3 CHP-BV Followed by Consolidation With High-dose Therapy / ASCT as Frontline Treatment of Patients With EATL Type 1. Recruiting NCT03217643 Phase 2 Brentuximab Vedotin
4 Antibody Treatment for Advanced Celiac Disease Recruiting NCT01893775 Phase 1
5 Immune Response in Celiac Disease on In-vitro Gluten Challenge Completed NCT01909050
6 Comparison Between Axial- and Lateral-viewing Capsule Endoscopy in Celiac Disease Recruiting NCT03095573 Not Applicable
7 AMG 714 Expanded Access Program Available NCT03439475

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, Lymph Node, Small Intestine, Lung, Colon

Publications for Refractory Celiac Disease

Articles related to Refractory Celiac Disease:

(show top 50) (show all 103)
# Title Authors Year
1
A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease. ( 29787419 )
2018
2
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. ( 29307846 )
2018
3
An unexpected deterrent in diagnosing refractory celiac disease and enteropathy-associated T-cell lymphoma: a gluten-free diet. ( 30181834 )
2018
4
Is It a Refractory Celiac Disease? ( 30201353 )
2018
5
Outcome of Referrals for Non-Responsive Celiac Disease in a Tertiary Center: Low Incidence of Refractory Celiac Disease in the Netherlands. ( 28125074 )
2017
6
Open-Capsule Budesonide for Refractory Celiac Disease. ( 28323276 )
2017
7
A Pitfall in Suspected (refractory) Celiac Disease: Losartan-Induced Enteropathy. ( 29109495 )
2017
8
Discovery and characterization of a novel humanized anti-IL-15 antibody and its relevance for the treatment of refractory celiac disease and eosinophilic esophagitis. ( 28581883 )
2017
9
Refractory Celiac Disease Successfully Treated With Azathioprine. ( 28725310 )
2017
10
Cross-sectional imaging in refractory celiac disease. ( 28084545 )
2017
11
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease. ( 28539227 )
2017
12
Refractory Celiac Disease Type II: A Case Report that Demonstrates the Diagnostic and Therapeutic Challenges. ( 28868442 )
2016
13
Detection of Active Epstein-Barr Virus Infection in Duodenal Mucosa of Patients With Refractory Celiac Disease. ( 27033429 )
2016
14
Improving outcomes of refractory celiac disease - current and emerging treatment strategies. ( 27536154 )
2016
15
Refractory celiac disease. ( 26603931 )
2016
16
A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease. ( 26686526 )
2016
17
Serendipity in Refractory Celiac Disease: Full Recovery of Duodenal Villi and Clinical Symptoms after Fecal Microbiota Transfer. ( 27689204 )
2016
18
Nonalcoholic steatohepatitis cirrhosis and type 1 refractory celiac disease: More than a fortuitous association? ( 26526847 )
2016
19
Refractory celiac disease and EATL patients show severe malnutrition and malabsorption at diagnosis. ( 25979847 )
2015
20
Celiac Crisis in Refractory Celiac Disease Type I with Neurological Manifestations: ADiagnostic Dilemma. ( 26522202 )
2015
21
CD103+ I^I' T cell large granular lymphocytosis in a patient with refractory celiac disease: a diagnostic enigma. ( 25637255 )
2015
22
Remission of Refractory Celiac Disease With Infliximab in a Pediatric Patient. ( 26157934 )
2015
23
Refractory celiac disease: epidemiology and clinical manifestations. ( 25925926 )
2015
24
Serum intestinal-fatty acid binding protein as a biomarker for refractory celiac disease. ( 26114190 )
2015
25
Early, non-refractory celiac disease associated with microscopic colitis and splenomegaly. ( 25933449 )
2015
26
Increase in Neuroendocrine Cells in the Duodenal Mucosa of Patients with Refractory Celiac Disease. ( 24394748 )
2014
27
Increased IgA glycoprotein-2 specific antibody titres in refractory celiac disease. ( 24949603 )
2014
28
Refractory celiac disease. ( 24502536 )
2014
29
Dendritic cells promote expansion and survival of aberrant TCR-negative intraepithelial lymphocyte lines from refractory celiac disease type II patients. ( 24252355 )
2014
30
Phenotypically aberrant clonal T cells in the lungs of patients with type II refractory celiac disease. ( 24904104 )
2014
31
Hemophagocytic Lymphohistiocytic Syndrome and Enteropathy-Associated T-cell Lymphoma in a Patient with Refractory Celiac Disease. ( 26157854 )
2014
32
Immunohistochemical and T-cell receptor gene rearrangement analyses as predictors of morbidity and mortality in refractory celiac disease. ( 23470642 )
2013
33
Pyoderma gangrenosum in refractory celiac disease: a case report. ( 24279608 )
2013
34
2D ultrasonography and contrast enhanced ultrasound for the evaluation of cavitating mesenteric lymph node syndrome in a patient with refractory celiac disease and enteropathy T cell lymphoma. ( 23399324 )
2013
35
Diagnosis and management of refractory celiac disease: a systematic review. ( 24227505 )
2013
36
Antibody titers against food antigens decrease upon a gluten-free diet, but are not useful for the follow-up of (refractory) celiac disease. ( 23337171 )
2013
37
Education and Imaging. Gastrointestinal: Capsule endoscopy of a very refractory celiac disease. ( 23875634 )
2013
38
Large granular lymphocytic leukemia: a treatable form of refractory celiac disease. ( 22922421 )
2012
39
Diagnostic yield of capsule endoscopy in refractory celiac disease. ( 22964554 )
2012
40
Defective tight junctions in refractory celiac disease. ( 22731714 )
2012
41
Collagenous sprue with associated features of refractory celiac disease. ( 22537378 )
2012
42
Refractory celiac disease. ( 23083992 )
2012
43
Refractory celiac disease: from bench to bedside. ( 22810901 )
2012
44
TCRI^ clonality improves diagnostic yield of TCRI^ clonality in refractory celiac disease. ( 22298086 )
2012
45
A case of enteropathy-associated T-cell lymphoma (type I) arising in stomach without refractory celiac disease. ( 23217032 )
2012
46
Is refractory celiac disease more severe in old Europe? ( 21540899 )
2011
47
DNAM-1 mediates epithelial cell-specific cytotoxicity of aberrant intraepithelial lymphocyte lines from refractory celiac disease type II patients. ( 21525383 )
2011
48
Auto-SCT in refractory celiac disease type II patients unresponsive to cladribine therapy. ( 20818442 )
2011
49
Small intestinal release mesalamine for the treatment of refractory celiac disease type I. ( 20871406 )
2011
50
Mesalamine for refractory celiac disease: an old medicine for a new disease. ( 21063211 )
2011

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 interferon-gamma-mediated signaling pathway GO:0060333 9.16 HLA-DQB1 IFNG
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 8.96 IFNG IL15
3 negative regulation of smooth muscle cell proliferation GO:0048662 8.62 IFNG IL15

Sources for Refractory Celiac Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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