MCID: RFR013
MIFTS: 30

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 60 17
Refractory Sprue 60
Refractory Cd 60

Characteristics:

Orphanet epidemiological data:

60
refractory celiac disease
Inheritance: Not applicable; Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 35 K90.0
Orphanet 60 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 FABP2 (Fatty Acid Binding Protein 2), and among its related pathways/superpathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Dendritic Cells Developmental Lineage Pathway. 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 39)
# Related Disease Score Top Affiliating Genes
1 celiac disease 1 30.7 HLA-DQB1 IL15 MYO9B
2 microscopic colitis 29.8 HLA-DQB1 IFNG
3 lymphoma 10.3
4 enteropathy-associated t-cell lymphoma 10.2
5 chronic beryllium disease 10.1 HLA-DQB1 IFNG
6 idiopathic bronchiectasis 10.1 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 toxoplasmosis 10.0 HLA-DQB1 IFNG
11 rasmussen encephalitis 9.9 IFNG IL15
12 dermatitis herpetiformis 9.9 HLA-DQB1 MYO9B
13 graft-versus-host disease 9.9 HLA-DQB1 IFNG
14 sezary's disease 9.9 IFNG IL15
15 lymphocytic colitis 9.9
16 pneumatosis cystoides intestinalis 9.9
17 spondylocarpotarsal synostosis syndrome 9.8
18 esophagitis, eosinophilic, 1 9.8
19 hematopoietic stem cell transplantation 9.8
20 leukemia 9.8
21 colitis 9.8
22 lymphocytic leukemia 9.8
23 esophagitis 9.8
24 diarrhea 9.8
25 pyoderma 9.8
26 intestinal disease 9.8
27 pyoderma gangrenosum 9.8
28 encephalitis 9.8
29 autoimmune enteropathy 9.8
30 nonalcoholic steatohepatitis 9.8
31 splenomegaly 9.8
32 mitochondrial neurogastrointestinal encephalomyopathy 9.8
33 cutaneous t cell lymphoma 9.8 IFNG IL15
34 autoimmune disease 9.8
35 autoimmune disease 1 9.8
36 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
37 crohn's disease 9.8
38 leishmaniasis 9.7 HLA-DQB1 IFNG
39 autoimmune disease of gastrointestinal tract 9.7 IFNG IL15 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:

47
# 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

Search Clinical Trials , 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:

42
T Cells, Lymph Node, Small Intestine, Colon

Publications for Refractory Celiac Disease

Articles related to Refractory Celiac Disease:

(show top 50) (show all 107)
# Title Authors Year
1
Is It a Refractory Celiac Disease? ( 30201353 )
2019
2
Refractory Celiac Disease. ( 30711206 )
2019
3
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. ( 29307846 )
2018
4
An unexpected deterrent in diagnosing refractory celiac disease and enteropathy-associated T-cell lymphoma: a gluten-free diet. ( 30181834 )
2018
5
A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease. ( 29787419 )
2018
6
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
7
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease. ( 28539227 )
2017
8
Cross-sectional imaging in refractory celiac disease. ( 28084545 )
2017
9
Outcome of Referrals for Non-Responsive Celiac Disease in a Tertiary Center: Low Incidence of Refractory Celiac Disease in the Netherlands. ( 28125074 )
2017
10
Open-Capsule Budesonide for Refractory Celiac Disease. ( 28323276 )
2017
11
Refractory Celiac Disease Successfully Treated With Azathioprine. ( 28725310 )
2017
12
A Pitfall in Suspected (refractory) Celiac Disease: Losartan-Induced Enteropathy. ( 29109495 )
2017
13
Nonalcoholic steatohepatitis cirrhosis and type 1 refractory celiac disease: More than a fortuitous association? ( 26526847 )
2016
14
Refractory celiac disease and EATL patients show severe malnutrition and malabsorption at diagnosis. ( 25979847 )
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
Detection of Active Epstein-Barr Virus Infection in Duodenal Mucosa of Patients With Refractory Celiac Disease. ( 27033429 )
2016
18
Improving outcomes of refractory celiac disease - current and emerging treatment strategies. ( 27536154 )
2016
19
Serendipity in Refractory Celiac Disease: Full Recovery of Duodenal Villi and Clinical Symptoms after Fecal Microbiota Transfer. ( 27689204 )
2016
20
Refractory Celiac Disease Type II: A Case Report that Demonstrates the Diagnostic and Therapeutic Challenges. ( 28868442 )
2016
21
Early, non-refractory celiac disease associated with microscopic colitis and splenomegaly. ( 25933449 )
2015
22
CD103+ γδ T cell large granular lymphocytosis in a patient with refractory celiac disease: a diagnostic enigma. ( 25637255 )
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
Remission of Refractory Celiac Disease With Infliximab in a Pediatric Patient. ( 26157934 )
2015
26
Celiac Crisis in Refractory Celiac Disease Type I with Neurological Manifestations: A Diagnostic Dilemma. ( 26522202 )
2015
27
Hemophagocytic Lymphohistiocytic Syndrome and Enteropathy-Associated T-cell Lymphoma in a Patient with Refractory Celiac Disease. ( 26157854 )
2014
28
Dendritic cells promote expansion and survival of aberrant TCR-negative intraepithelial lymphocyte lines from refractory celiac disease type II patients. ( 24252355 )
2014
29
Increase in neuroendocrine cells in the duodenal mucosa of patients with refractory celiac disease. ( 24394748 )
2014
30
Refractory celiac disease. ( 24502536 )
2014
31
Phenotypically aberrant clonal T cells in the lungs of patients with type II refractory celiac disease. ( 24904104 )
2014
32
Increased IgA glycoprotein-2 specific antibody titres in refractory celiac disease. ( 24949603 )
2014
33
Pyoderma gangrenosum in refractory celiac disease: a case report. ( 24279608 )
2013
34
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
35
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
36
Immunohistochemical and T-cell receptor gene rearrangement analyses as predictors of morbidity and mortality in refractory celiac disease. ( 23470642 )
2013
37
Education and Imaging. Gastrointestinal: Capsule endoscopy of a very refractory celiac disease. ( 23875634 )
2013
38
Diagnosis and management of refractory celiac disease: a systematic review. ( 24227505 )
2013
39
A case of enteropathy-associated T-cell lymphoma (type I) arising in stomach without refractory celiac disease. ( 23217032 )
2012
40
TCRβ clonality improves diagnostic yield of TCRγ clonality in refractory celiac disease. ( 22298086 )
2012
41
Collagenous sprue with associated features of refractory celiac disease. ( 22537378 )
2012
42
Defective tight junctions in refractory celiac disease. ( 22731714 )
2012
43
Refractory celiac disease: from bench to bedside. ( 22810901 )
2012
44
Large granular lymphocytic leukemia: a treatable form of refractory celiac disease. ( 22922421 )
2012
45
Diagnostic yield of capsule endoscopy in refractory celiac disease. ( 22964554 )
2012
46
Refractory celiac disease. ( 23083992 )
2012
47
Auto-SCT in refractory celiac disease type II patients unresponsive to cladribine therapy. ( 20818442 )
2011
48
Small intestinal release mesalamine for the treatment of refractory celiac disease type I. ( 20871406 )
2011
49
Mesalamine for refractory celiac disease: an old medicine for a new disease. ( 21063211 )
2011
50
Involvement of CD40-CD40 ligand in uncomplicated and refractory celiac disease. ( 21139574 )
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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