Celiac Disease 1 (CELIAC1)

Categories: Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Celiac Disease 1

MalaCards integrated aliases for Celiac Disease 1:

Name: Celiac Disease 1 57 36
Celiac Disease 57 11 24 19 42 28 53 41 43 14 16 71 33
Coeliac Disease 11 19 75 14 31 33
Celiac Sprue 11 24 19 42 75
Celiac Disease, Susceptibility to 57 28 12
Gluten-Sensitive Enteropathy 24 19 33
Nontropical Sprue 24 19 33
Sprue 42 71
Gluten-Sensitive Enteropathy, Susceptibility to, 1 57
Celiac Disease, Susceptibility to, Type 1 38
Celiac Disease, Susceptibility to, 1 57
Celiac Sprue, Susceptibility to, 1 57
Gluten-Sensitive Enteropathy 1 57
Gluten-Induced Enteropathy 19
Childhood Celiac Disease 71
Idiopathic Steatorrhoea 33
Idiopathic Steatorrhea 11
Heubner-Herter Disease 33
Herter Gee Syndrome 33
Gluten Intolerance 19
Gluten Enteropathy 42
Gee-Herter Disease 33
Thaysen's Disease 33
Coeliac Rickets 33
Celiac Sprue 1 57
Cœliac Disease 24
Gee Disease 33
Celiac1 57



Autosomal recessive 57


57 (Updated 08-Dec-2022)
genetic heterogeneity
precipitating factors - ingestion of wheat gluten, rye, and/or barley
presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting
presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia
presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency


Penetrance The penetrance of celiac disease is low. the risk of developing celiac disease is affected by hla diplotype (see table 2)....


Summaries for Celiac Disease 1

MedlinePlus Genetics: 42 Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten-free diet, inflammation resulting from immune system overactivity may cause a wide variety of signs and symptoms involving many parts of the body.Celiac disease can develop at any age after an individual starts eating foods containing gluten. The classic symptoms of the condition result from inflammation affecting the gastrointestinal tract. This inflammation damages the villi, which are small, finger-like projections that line the small intestine and provide a greatly increased surface area to absorb nutrients. In celiac disease, the villi become shortened and eventually flatten out. Intestinal damage causes diarrhea and poor absorption of nutrients, which may lead to weight loss. Abdominal pain, swelling (distention), and food intolerances are common in celiac disease. Inflammation associated with celiac disease may lead to an increased risk of developing certain gastrointestinal cancers such as cancers of the small intestine or esophagus.Inflammation and poor nutrient absorption may lead to problems affecting many other organs and systems of the body in affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been associated with celiac disease; these include migraine headaches, depression, attention-deficit/hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people with celiac disease have one or more of these varied health problems but do not have gastrointestinal symptoms. This form of the condition is called nonclassic celiac disease. Researchers now believe that nonclassic celiac disease is actually more common than the classic form.Celiac disease often goes undiagnosed because many of its signs and symptoms are nonspecific, which means they may occur in many disorders. Most people who have one or more of these nonspecific health problems do not have celiac disease. On average, a diagnosis of celiac disease is not made until 6 to 10 years after symptoms begin.Some people have silent celiac disease, in which they have no symptoms of the disorder. However, people with silent celiac disease do have immune proteins in their blood (antibodies) that are common in celiac disease. They also have inflammatory damage to their small intestine that can be detected with a biopsy.In a small number of cases, celiac disease does not improve with a gluten-free diet and progresses to a condition called refractory sprue. Refractory sprue is characterized by chronic inflammation of the gastrointestinal tract, poor absorption of nutrients, and an increased risk of developing a type of cancer of the immune cells called T-cell lymphoma.

MalaCards based summary: Celiac Disease 1, also known as celiac disease, is related to type 1 diabetes mellitus and autoimmune disease, and has symptoms including constipation, abdominal pain and diarrhea. An important gene associated with Celiac Disease 1 is HLA-DQB1 (Major Histocompatibility Complex, Class II, DQ Beta 1), and among its related pathways/superpathways are Allograft rejection and CD28 co-stimulation. The drugs Prucalopride and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include small intestine to gliadin, small intestine and bone, and related phenotypes are vitamin b12 deficiency and seizure

GARD: 19 Celiac disease is an autoimmune disorder that damages the small intestine and inhibits absorption of nutrients. People with Celiac disease cannot tolerate gluten, a protein in wheat, rye, barley, and in some products such as medicines, vitamins, and lip balms. When affected people eat food with gluten, or use a product with gluten, the immune system reacts by damaging tiny parts of the lining of the small intestine called villi. Because villi normally allow the blood to absorb nutrients from food, affected individuals become malnourished. Classic signs and symptoms are caused by inflammation of the gastrointestinal tract and may include diarrhea, weight loss, abdominal pain, swelling, and food intolerance. However, many people have other symptoms involving many body systems, and some people have no symptoms. While Celiac disease tends to run in families, it does not follow a specific inheritance pattern. The risk to develop Celiac disease is raised by having certain forms of the HLA-DQA1 and HLA-DQB1 genes.

MedlinePlus: 41 Celiac disease is an immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. Gluten is a protein found in wheat, rye, and barley. It may also be in other products like vitamins and supplements, hair and skin products, toothpastes, and lip balm. Celiac disease affects each person differently. Symptoms may occur in the digestive system, or in other parts of the body. One person might have diarrhea and abdominal pain, while another person may be irritable or depressed. Irritability is one of the most common symptoms in children. Some people have no symptoms. Celiac disease is genetic. Blood tests can help your doctor diagnose the disease. Your doctor may also need to examine a small piece of tissue from your small intestine. Treatment is a diet free of gluten. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

OMIM®: 57 Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005). For a discussion of genetic heterogeneity of celiac disease, see MAPPING. (212750) (Updated 08-Dec-2022)

Disease Ontology: 11 An autoimmune disease of gastrointestinal tract that is caused by a reaction located in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has symptom abdominal pain, has symptom constipation, has symptom diarrhea, has symptom nausea and vomiting, and has symptom loss of appetite.

Wikipedia: 75 Coeliac disease (British English) or celiac disease (American English) is a long-term autoimmune... more...

GeneReviews: NBK1727

Related Diseases for Celiac Disease 1

Diseases in the Celiac Disease 1 family:

Celiac Disease 5 Celiac Disease 4
Celiac Disease 2 Celiac Disease 3
Celiac Disease 6 Celiac Disease 7
Celiac Disease 8 Celiac Disease 9
Celiac Disease 10 Celiac Disease 11
Celiac Disease 12 Celiac Disease 13

Diseases related to Celiac Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1391)
# Related Disease Score Top Affiliating Genes
1 type 1 diabetes mellitus 32.6 TPO PTPN22 IL15 HLA-DQB1 HLA-DQA1 CTLA4
2 autoimmune disease 32.6 TPO TGM2 PTPN22 IL15 HLA-DQB1 HLA-DQA1
3 vitiligo-associated multiple autoimmune disease susceptibility 1 32.4 TPO PTPN22 CTLA4
4 dermatitis herpetiformis 32.2 TGM2 MYO9B HLA-DQB1 HLA-DQA1 CD79A
5 immunoglobulin alpha deficiency 32.2 TGM2 HLA-DQB1 HLA-DQA1 CD79A
6 autoimmune polyendocrine syndrome, type ii 32.2 PTPN22 HLA-DQA1
7 thyroiditis 32.1 TPO PTPN22 HLA-DQB1 HLA-DQA1 CTLA4
8 hypothyroidism 32.0 TPO PTPN22 HLA-DQB1 CTLA4
9 hashimoto thyroiditis 31.8 TPO PTPN22 CTLA4
10 autoimmune hepatitis 31.8 TPO PTPN22 HLA-DQB1 CTLA4
11 immunoglobulin a deficiency 1 31.8 TGM2 HLA-DQA1 CD79A
12 cholangitis 31.7 HLA-DQB1 HLA-DQA1 CTLA4
13 graves' disease 31.6 TPO PTPN22 HLA-DQB1 HLA-DQA1 CTLA4
14 systemic lupus erythematosus 31.6 TPO PTPN22 IL15 HLA-DQB1 HLA-DQA1 CTLA4
15 alopecia areata 31.5 TPO PTPN22 HLA-DQB1 HLA-DQA1 CTLA4
16 lymphocytic gastritis 31.5 TGM2 IL15
17 juvenile rheumatoid arthritis 31.4 PTPN22 HLA-DQB1 HLA-DQA1
18 hypoadrenocorticism, familial 31.4 TPO PTPN22 CTLA4
19 tropical sprue 31.4 TGM2 HLA-DQA1
20 duodenitis 31.4 TGM2 CTLA4
21 jejunoileitis 31.4 TGM2 MYO9B
22 common variable immunodeficiency 31.3 IL15 HLA-DQB1 CTLA4 CD79A
23 behcet syndrome 31.3 PTPN22 IL15 HLA-DQB1 HLA-DQA1 CTLA4
24 lymphocytic colitis 31.3 TGM2 CTLA4
25 microscopic colitis 31.2 TGM2 CTLA4
26 chronic urticaria 31.2 TPO PTPN22 HLA-DQB1
27 multiple sclerosis 31.1 PTPN22 IL15 HLA-DQB1 HLA-DQA1 CTLA4
28 viral hepatitis 31.0 TPO HLA-DQB1 HLA-DQA1
29 myasthenia gravis 31.0 PTPN22 HLA-DQB1 CTLA4
30 toxoplasmosis 30.9 HLA-DQB1 HLA-DQA1 CD79A
31 type 1 diabetes mellitus 5 30.9 PTPN22 HLA-DQB1 HLA-DQA1 CTLA4
32 giardiasis 30.8 TGM2 CD79A
33 guillain-barre syndrome 30.7 HLA-DQB1 HLA-DQA1 CD79A
34 lymphopenia 30.7 PTPN22 IL15 CTLA4
35 cerebral palsy 30.6 IL15 HLA-DQB1 HLA-DQA1 CD79A
36 autoimmune gastritis 30.6 TPO CTLA4
37 pemphigus 30.4 HLA-DQB1 CTLA4 CD79A
38 achalasia 30.4 PTPN22 HLA-DQB1 HLA-DQA1
39 orbital plasma cell granuloma 30.4 TPO CTLA4
40 type 1 diabetes mellitus 12 30.3 HLA-DQA1 CTLA4
41 myxedema 30.0 TPO CTLA4
42 celiac disease 4 11.6
43 celiac disease 3 11.6
44 refractory celiac disease 11.6
45 epilepsy with bilateral occipital calcifications 11.5
46 celiac disease 5 11.4
47 celiac disease 2 11.4
48 celiac disease 6 11.4
49 celiac disease 7 11.4
50 celiac disease 8 11.4

Comorbidity relations with Celiac Disease 1 via Phenotypic Disease Network (PDN):

Chylomicron Retention Disease Deficiency Anemia
Hypothyroidism Iron Deficiency Anemia
Protein-Energy Malnutrition Tropical Sprue

Graphical network of the top 20 diseases related to Celiac Disease 1:

Diseases related to Celiac Disease 1

Symptoms & Phenotypes for Celiac Disease 1

Human phenotypes related to Celiac Disease 1:

30 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vitamin b12 deficiency 30 Occasional (7.5%) HP:0100502
2 seizure 30 HP:0001250
3 failure to thrive 30 HP:0001508
4 depression 30 HP:0000716
5 ataxia 30 HP:0001251
6 cerebral calcification 30 HP:0002514
7 short stature 30 HP:0004322
8 delayed puberty 30 HP:0000823
9 vomiting 30 HP:0002013
10 type i diabetes mellitus 30 HP:0100651
11 rickets 30 HP:0002748
12 osteoporosis 30 HP:0000939
13 postnatal growth retardation 30 HP:0008897
14 anxiety 30 HP:0000739
15 elevated hepatic transaminase 30 HP:0002910
16 alopecia 30 HP:0001596
17 celiac disease 30 HP:0002608
18 thyroiditis 30 HP:0100646
19 steatorrhea 30 HP:0002570
20 abdominal pain 30 HP:0002027
21 arthralgia 30 HP:0002829
22 low levels of vitamin d 30 HP:0100512
23 lymphoma 30 HP:0002665
24 hypocalcemia 30 HP:0002901
25 weight loss 30 HP:0001824
26 eczema 30 HP:0000964
27 infertility 30 HP:0000789
28 prolonged prothrombin time 30 HP:0008151
29 diarrhea 30 HP:0002014
30 polyneuropathy 30 HP:0001271
31 abdominal distention 30 HP:0003270
32 recurrent aphthous stomatitis 30 HP:0011107
33 decreased circulating iga level 30 HP:0002720
34 macrocytic anemia 30 HP:0001972
35 low levels of vitamin k 30 HP:0011892
36 iron deficiency anemia 30 HP:0001891
37 abnormality of the abdominal wall 30 HP:0004298
38 thrombocytosis 30 HP:0001894
39 abnormality of the coagulation cascade 30 HP:0003256
40 prolonged partial thromboplastin time 30 HP:0003645
41 stomatitis 30 HP:0010280
42 enamel hypoplasia 30 HP:0006297
43 reduced blood folate concentration 30 HP:0100507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
growth retardation (children)

Neurologic Central Nervous System:
cerebral calcification

Endocrine Features:
delayed puberty
type 1 diabetes
autoimmune thyroiditis

Abdomen Gastrointestinal:
recurrent abdominal pain
watery diarrhea (children and adults)
small intestine inflammation
flattened villi
Laboratory Abnormalities:
prolonged prothrombin time
iiga and igg antigliadin antibodies (aga)
iga antiendomysial antibodies (ema)
anti-tissue transglutaminase antibodies (anti-ttg)
Growth Weight:
weight loss

iron deficiency anemia (adults)
macrocytic anemia (folate or rarely b12 deficiency)

iga deficiency

Head And Neck Teeth:
hypoplastic dental enamel

osteoporosis (70% of patients)

Neurologic Behavioral Psychiatric Manifestations:

Growth Height:
short stature

Skin Nails Hair Hair:

Skeletal Limbs:

Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Mouth:
recurrent aphthous stomatitis

esophageal cancer
intestinal t-cell lymphoma
small bowel cancer
pharyngeal cancer

Skin Nails Hair Skin:
follicular keratosis
dermatitis herpetiformis

Abdomen External Features:
abdominal distention (children)

Clinical features from OMIM®:

212750 (Updated 08-Dec-2022)


  • constipation
  • abdominal pain
  • diarrhea
  • nausea
  • loss of appetite

UMLS symptoms related to Celiac Disease 1:

nausea and vomiting; constipation; abdominal pain; diarrhea; dyspepsia; icterus; heartburn; gastrointestinal gas

Drugs & Therapeutics for Celiac Disease 1

Drugs for Celiac Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 116)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Prucalopride Approved Phase 4 179474-81-8 3052762
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
Iron Approved Phase 4 7439-89-6 29936
Pancrelipase Approved, Investigational Phase 4 53608-75-6 8519
Esomeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6, 119141-88-7 9568614 4594
Budesonide Approved Phase 4 51333-22-3 5281004 40000 63006
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 24892734 16212801 44176380
Cobalamin Experimental Phase 4 13408-78-1 6857388
13 Cathartics Phase 4
14 Neurotransmitter Agents Phase 4
15 Laxatives Phase 4
16 Serotonin Receptor Agonists Phase 4
17 Bifidobacterium Phase 4
18 Acidophilus Phase 4
19 Folate Phase 4
20 Vitamins Phase 4
21 Vitamin B9 Phase 4
22 Vitamin B6 Phase 4
23 Vitamin B12 Phase 4
24 Vitamin B Complex Phase 4
25 Vitamin B 6 Phase 4
26 Vitamin B 12 Phase 4
27 Sulfalene Phase 4
28 Pharmaceutical Solutions Phase 4
29 Pancreatin Phase 4
30 Gastrointestinal Agents Phase 4
31 Hormones Phase 4
32 Hormone Antagonists Phase 4
33 glucocorticoids Phase 4
34 Anti-Inflammatory Agents Phase 4
35 Bronchodilator Agents Phase 4
36 Anti-Asthmatic Agents Phase 4
37 Respiratory System Agents Phase 4
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050
Simvastatin Approved Phase 2, Phase 3 79902-63-9 54454
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 4894 5755
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5 1875
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 4159 6741
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7 4897
47 Vaccines Phase 3
48 Antimetabolites Phase 2, Phase 3
49 Hypolipidemic Agents Phase 2, Phase 3
50 Anticholesteremic Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 246)
# Name Status NCT ID Phase Drugs
1 Does Bowel Preparation (Either as a Single or Divided Dose) Produce Better Cleansing and Diagnostic Yield Than no Preparation at All in Small Bowel Capsule Endoscopy Unknown status NCT03351972 Phase 4 Klean Prep
2 The Effect of Prucalopride on Small Bowel Transit Time in Patients Undergoing Capsule Endoscopy: A Randomized Controlled Trial Unknown status NCT02806206 Phase 4 Prucalopride;Placebo
3 Effect of the Endopeptidase AN-PEP on Gluten Exposure in Real Life in Celiac Disease Patients Treated With a Long-term Gluten-free Diet. Exploratory, Interventional, Prospective, Controlled and Double Blind Study Recruiting NCT04788797 Phase 4 Prolyl Endopeptidase
4 Celiac Disease and Vitamin Status: Evaluation of the Effect of Supplementation With a Probiotic (VIVOMIXX®) on Vitamin B6, B12, 25'OH D, Folic Acid and Omocystein Levels, Metabolic and Inflammatory Status, and Gut Microbiota Metabolomics in a Cohoort of Celiac Patients Recruiting NCT04160767 Phase 4 Probiotic Vivomixx
5 Effect of Intravenous Iron Supplementation on Celiac Disease Remission in Patients With Iron Deficiency and Intestinal Villous Atrophy: a Randomized Trial Not yet recruiting NCT05114278 Phase 4 Ferinject;oral iron
6 Pilot Study of the Efficacy of Pancreatic Enzyme Supplementation for Symptom Control in Celiac Disease Not Responding to the Gluten Free Diet Terminated NCT02475369 Phase 4 pancrelipase
7 Open-label Withdrawal Trial of Budesonide in Patients With Immune Mediated Enteropathies Terminated NCT03866538 Phase 4 Withdrawal of Oral Budesonide
8 Randomized, Double Blind, Placebo-controlled Trial of Creon in Patients With Low Faecal Pancreatic Elastase Terminated NCT01865695 Phase 4 Creon
9 Assessment of the Effect of Gluten Free Toothpaste on the Ulcerative Events in Children With Celiac Disease (Before and After Pilot Study) Completed NCT03771443 Phase 3 experimental gluten free toothpaste
10 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
11 HLA-DQ2-gliadin Tetramer for Diagnosis of Celiac Disease Completed NCT01100099 Phase 2, Phase 3
12 Protocol for Correlating Enteropathic Severity and Small Intestinal CYP3A4 Activity in Patients With Celiac Disease Completed NCT01338324 Phase 2, Phase 3 Simvastatin
13 Exploration of the Biologic Basis for Underperformance of Oral Polio and Rotavirus Vaccines in Bangladesh Completed NCT01375647 Phase 3
14 A Phase 3, Randomized, Double-Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of Larazotide Acetate for the Relief of Persistent Symptoms in Patients With Celiac Disease on a GFD Terminated NCT03569007 Phase 3 Larazotide;Matching Placebo
15 A Phase 2b, Randomized, Double-Blind, Placebo-Controlled Dose-Ranging Study of the Efficacy and Safety of ALV003 Treatment in Symptomatic Celiac Disease Patients Maintained on a Gluten-Free Diet Unknown status NCT01917630 Phase 2 ALV003;placebo
16 A Randomized, Double-Blind, Placebo Controlled, Crossover Trial to Evaluate Safety and Efficacy of AGY in Persons With Celiac Disease Age > 10 Years Unknown status NCT03707730 Phase 2
17 A Phase 2 Randomized, Double-blind, Placebo-controlled Study in HLA-DQ2.5+ Adults With Celiac Disease to Assess the Effect of Nexvax2 on Symptoms After Masked Gluten Food Challenge Unknown status NCT03644069 Phase 2
18 Wheat Flour Subjected to Microbial Transglutaminase Enzymatic Treatment in the Presence of Lysine Ethyl Ester for Alimentary Use in the Treatment of Celiac Disease. Unknown status NCT02472119 Phase 2
19 A Randomized, Double-blind, Placebo-controlled Study of the Safety, Pharmacodynamics, Efficacy, and Pharmacokinetics of TIMP-GLIA in Subjects With Well-controlled Celiac Disease Undergoing Oral Gluten Challenge Completed NCT03738475 Phase 2 TIMP-GLIA;Placebo
20 Exploratory, Placebo-controlled Study on the Effects of Bifidobacterium Breve in Children With Celiac Disease Completed NCT02244047 Phase 1, Phase 2 Bifidobacterium breve;Placebo (for Bifidobacterium breve)
21 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
22 A Phase 2a, Randomized, Double Blinded, Placebo Controlled, Study Evaluating Immunity and Gluten-sensitivity by Inoculating Celiac Disease Patients With the Human Hookworm Necator Americanus. Completed NCT00671138 Phase 2
23 A Randomized Controlled Trial of Dietary Supplementation With Bifidobacterium Infantis NLS Super Strain Among Celiac Disease Patients on a Gluten-free Diet With Persistent Gastrointestinal Symptoms Completed NCT03271138 Phase 2
24 A Phase 2a, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of AMG 714 in Adult Patients With Celiac Disease Completed NCT02637141 Phase 2
25 A Randomized, Double-Blind, Placebo-Controlled, Phase II Study Testing CCX282-B in the Treatment of Celiac Disease Completed NCT00540657 Phase 2 CCX282-B;Placebo
26 A Phase IIb, Randomized, Double-Blind, Placebo Controlled, Dose Ranging, Multicenter Study to Determine the Safety, Tolerance, and Efficacy of Larazotide Acetate (AT-1001) in Celiac Disease Subjects During a Gluten Challenge Completed NCT00492960 Phase 2 larazotide acetate;placebo
27 Effect of a Cocktail of Two Common Enzyme Supplements on Celiac Disease Patients With Persistent Seropositivity Completed NCT00962182 Phase 1, Phase 2 STAN1;Placebo enzyme;STAN1+gluten
28 A Phase 2a, Double-Blind, Placebo Controlled Study of the Efficacy, Safety and Tolerability of 6-weeks Treatment With ALV003 In Patients With Well-Controlled Celiac Disease Completed NCT00959114 Phase 2
29 A Phase IIb, Randomized, Double-blind, Placebo Controlled, Dose Ranging, Multicenter Study to Determine the Safety, Tolerance, and Efficacy of Larazotide Acetate (AT-1001) in Celiac Disease Subjects During a Gluten Challenge Completed NCT00889473 Phase 2 Larazotide acetate;Placebo
30 A Double-Blind, Placebo Controlled, Gluten Challenge Trial of the Efficacy, Safety and Tolerability of 6-weeks Treatment of Latiglutenase (IMGX003) Administration in Patients With Well-Controlled Celiac Disease Completed NCT03585478 Phase 2 Latiglutenase
31 A Phase 2a, Randomized, Double-Blind, Placebo Controlled, Dose Ranging, Multicenter Study to Determine the Safety, Tolerance, and Efficacy of Larazotide Acetate (AT-1001) in Celiac Disease Subjects During Gluten Challenge. Completed NCT00362856 Phase 2 larazotide acetate;Placebo
32 A Phase IIb, Randomized, Double-Blind, Placebo Controlled Study for the Treatment of Active Celiac Disease With Larazotide Acetate (AT-1001) Completed NCT00620451 Phase 2 larazotide acetate;placebo
33 A Phase 2a, Double-Blind, Placebo Controlled Study of the Efficacy, Safety and Tolerability of 6-weeks Treatment With Varying Methods of ALV003 Administration in Patients With Well-Controlled Celiac Disease Completed NCT01255696 Phase 2
34 A Randomized, Double-Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of Different Doses of Larazotide Acetate for the Treatment of Celiac Disease Completed NCT01396213 Phase 2 Larazotide Acetate;placebo
35 Phase II Study on Safety of 60 Days Administration of Triticum Monococcum in Patients With Celiac Disease on Remission in Gluten Free Diet Completed NCT02220166 Phase 2
36 Study on The Effectiveness of Oral Administration of Prolyl Endoprotease for Gluten Detoxification as a Means to Treat Coeliac Disease Completed NCT00810654 Phase 1, Phase 2
37 A Two-Part, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Systemic Exposure of Single Escalating Administrations and Repeated Administration of BL-7010 in Well-Controlled Celiac Patients Completed NCT01990885 Phase 1, Phase 2 BL-7010;Placebo
38 Combining Necator Americanus With Trace Gluten to Restore Tolerance in Coeliac Disease: a Pilot Clinical and a Detailed in Vitro Immunological Study. Completed NCT01661933 Phase 1, Phase 2
39 A Phase 1B Open-label/Phase 2 Double-blind Placebo- Controlled Study for Pharmacodynamic (PD) Activity, Pharmacokinetics (PK), Safety, and Tolerability of KAN-101 In Patients With Celiac Disease (CeD) Recruiting NCT05574010 Phase 1, Phase 2 Cohort 1 in Part A;Cohort 2 in Part A;Cohort 3 in Part A;Group 2 in Part B;Group 3 in Part B;Group 4 in Part B
40 Multicenter, Prospective, Randomized, Double-Blind, Placebo-Controlled, Crossover Study of the Efficacy and Safety of Latiglutenase Treatment in Symptomatic Celiac Disease Patients Maintained on a Gluten-Free Diet While Undergoing Periodic Gluten Exposure Recruiting NCT04243551 Phase 2 Latiglutenase
41 A Phase 2b, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of PRV-015 in Adult Patients With Non-Responsive Celiac Disease as an Adjunct to a Gluten-free Diet Recruiting NCT04424927 Phase 2
42 Prospective, Double-Blind, Placebo-Controlled, Crossover Study of the Efficacy and Safety of Latiglutenase Treatment in Type 1 Diabetes Patients With Celiac Disease While Undergoing Periodic Gluten Exposure Recruiting NCT04839575 Phase 2 Latiglutenase;Placebo
43 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Dose-Ranging Study to Evaluate the Efficacy and Safety of TAK-062 for the Treatment of Active Celiac Disease in Subjects Attempting a Gluten-Free Diet Recruiting NCT05353985 Phase 2 TAK-062;TAK-062 Placebo
44 A Phase IIa, Double-blind, Randomised, Placebo-controlled Study on the Efficacy and Tolerability of a 14-day Treatment With Teriflunomide vs. Placebo in Subjects With Coeliac Disease Undergoing a 3-day Gluten Challenge Recruiting NCT04806737 Phase 1, Phase 2 Teriflunomide Oral Tablet
45 A Randomized, Double-Blind, Placebo-Controlled, Phase 2 Dose-Ranging Study to Evaluate the Efficacy and Safety of TAK-101 for the Prevention of Gluten-Specific T Cell Activation in Subjects With Celiac Disease on a Gluten-Free Diet Active, not recruiting NCT04530123 Phase 2 Placebo;TAK-101
46 Double Blind, Placebo-controlled Trial to Establish Safety and Efficacy of Ritlecitinib to Prevent Gluten-induced Celiac Enteropathy and Symptoms in Celiac Disease Patients in Remission Not yet recruiting NCT05636293 Phase 2 Ritlecitinib;Placebo
47 Vedolizumab Induction May Prevent Celiac Enteritis After Gluten Challenge in Established Celiac Patients in Histological Remission Terminated NCT02929316 Phase 2 Vedolizumab
48 A Phase 1, Two Stage, Single-Blind, Single Dose, Placebo Controlled, Dose Escalation, Crossover Study of the Safety and Tolerability of ALV003 in Healthy Adult Volunteers and Subjects With Well-Controlled Celiac Disease Following a Gluten-Containing Meal Completed NCT00669825 Phase 1 ALV003;Placebo
49 A Randomized, Double-Blind, Placebo-Controlled, Multiple Dose, Parallel Study to Investigate the Pharmacokinetics, Pharmacodynamic Effects, Safety and Tolerability of Repeated Dosing of RO5459072 in Volunteers With Celiac Disease Completed NCT02679014 Phase 1 Placebo;RO5459072
50 A Phase 1, Four-Part Study to Assess the Safety, Tolerability, Pharmacokinetics, and Gluten Degradation Activity of PvP001, PvP002, and PvP003 in Healthy Adult Volunteers and to Assess the Safety, Tolerability, and Pharmacokinetics of PvP001 and PvP002 in Adults With Celiac Disease Completed NCT03701555 Phase 1 PvP001 100 mg;PvP001 300 mg;PvP001 900 mg;Maximum Feasible Dose (MFD) of PvP002;Maximum Tolerated Dose (MTD) of PvP001;MTD of PvP001 following 7 days of PPI treatment;PvP001 600 mg;PvP003 placebo;PvP003;PvP003 150 mg

Search NIH Clinical Center for Celiac Disease 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Medium chain triglycerides

Cell-based therapeutics:

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Celiac Disease 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Celiac Disease 1:
Regenerative ColoTherapy, stem cells for inflammatory bowel diseases
Embryonic/Adult Cultured Cells Related to Celiac Disease 1:
Peripheral blood-derived hematopoietic stem cells (family)
Adipose-derived mesenchymal stem cells (family)

Cochrane evidence based reviews: celiac disease

Genetic Tests for Celiac Disease 1

Genetic tests related to Celiac Disease 1:

# Genetic test Affiliating Genes
1 Celiac Disease 28
2 Celiac Disease, Susceptibility to 28

Anatomical Context for Celiac Disease 1

Organs/tissues related to Celiac Disease 1:

FMA: Small Intestine To Gliadin
MalaCards : Small Intestine, Bone, Skin, Kidney, Liver, T Cells, Thyroid

Publications for Celiac Disease 1

Articles related to Celiac Disease 1:

(show top 50) (show all 22028)
# Title Authors PMID Year
A direct role for NKG2D/MICA interaction in villous atrophy during celiac disease. 62 24 57
15357948 2004
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. 53 62 57
16282976 2005
Structural basis for gluten intolerance in celiac sprue. 53 62 57
12351792 2002
Identification of tissue transglutaminase as the autoantigen of celiac disease. 53 62 57
9212111 1997
IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease. 62 57
32051586 2020
Co-adjuvant effects of retinoic acid and IL-15 induce inflammatory immunity to dietary antigens. 62 57
21307853 2011
Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection. 62 57
20560212 2010
Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease. 62 57
18805825 2009
The role of HLA-DQ8 beta57 polymorphism in the anti-gluten T-cell response in coeliac disease. 62 57
19037317 2008
Searching for genes influencing a complex disease: the case of coeliac disease. 62 57
17726483 2008
Newly identified genetic risk variants for celiac disease related to the immune response. 62 57
18311140 2008
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. 62 57
17558408 2007
The prevalence of celiac disease in average-risk and at-risk Western European populations: a systematic review. 62 57
15825128 2005
Coordinated induction by IL15 of a TCR-independent NKG2D signaling pathway converts CTL into lymphokine-activated killer cells in celiac disease. 62 57
15357947 2004
Structural basis for HLA-DQ2-mediated presentation of gluten epitopes in celiac disease. 62 57
15020763 2004
Meta and pooled analysis of European coeliac disease data. 62 57
14571266 2003
The HLA-DQ2 gene dose effect in celiac disease is directly related to the magnitude and breadth of gluten-specific T cell responses. 62 57
14530392 2003
Celiac disease--how to handle a clinical chameleon. 62 57
12815143 2003
Prevalence of Celiac disease among children in Finland. 62 57
12815137 2003
Celiac disease--the villain unmasked? 62 57
12815145 2003
Celiac disease association with CD8+ T cell responses: identification of a novel gliadin-derived HLA-A2-restricted epitope. 62 57
12594302 2003
Genetic dissection between coeliac disease and dermatitis herpetiformis in sib pairs. 62 57
12485471 2002
Genome-wide linkage analysis for celiac disease in North American families. 62 57
12124726 2002
The first large population based twin study of coeliac disease. 62 57
11950806 2002
Celiac sprue. 62 57
11796853 2002
Genomewide linkage analysis of celiac disease in Finnish families. 62 57
11715113 2002
Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11. 62 57
11840196 2001
Coeliac disease: follow-up linkage study provides further support for existence of a susceptibility locus on chromosome 11p11. 62 57
11592927 2001
Candidate gene regions and genetic heterogeneity in gluten sensitivity. 62 57
11302971 2001
Use of closely related affected individuals for the genetic study of complex diseases in founder populations. 62 57
11102286 2001
Concordance of dermatitis herpetiformis and celiac disease in monozygous twins. 62 57
11121131 2000
A genome-wide family-based linkage study of coeliac disease. 62 57
11281212 2000
Transglutaminase antibodies in children with a genetic risk for celiac disease. 62 57
10969260 2000
The intestinal T cell response to alpha-gliadin in adult celiac disease is focused on a single deamidated glutamine targeted by tissue transglutaminase. 62 57
10684852 2000
The prevalence of celiac disease in at-risk groups of children in the United States. 62 57
10636980 2000
Contribution of the MHC region to the familial risk of coeliac disease. 62 57
10507725 1999
Why is coeliac disease endemic in the people of the Sahara? 62 57
10466670 1999
Coeliac disease detected by screening is not silent--simply unrecognized. 62 57
10024951 1998
Genetic susceptibility to gluten sensitive enteropathy in Irish setter dogs is not linked to the major histocompatibility complex. 62 57
9894853 1998
Tissue transglutaminase selectively modifies gliadin peptides that are recognized by gut-derived T cells in celiac disease. 62 57
9623982 1998
Celiac disease risk in the USA: high prevalence of antiendomysium antibodies in healthy blood donors. 62 57
9648988 1998
A pedigree-based linkage study of coeliac disease: failure to replicate previous positive findings. 62 57
9659975 1998
Linkage analysis of candidate regions for coeliac disease genes. 62 57
9259281 1997
Coeliac disease. 62 57
9193393 1997
An autosomal screen for genes that predispose to celiac disease in the western counties of Ireland. 62 57
8896565 1996
The coeliac iceberg in Italy. A multicentre antigliadin antibodies screening for coeliac disease in school-age subjects. 62 57
8783752 1996
Incidence of familial dermatitis herpetiformis. 62 57
8731659 1996
Epithelial barrier and ion transport in coeliac sprue: electrical measurements on intestinal aspiration biopsy specimens. 62 57
8537047 1995
HLA susceptibility genes in celiac disease: genetic mapping and role in pathogenesis. 62 57
8359659 1993
Incidence of celiac disease identified by the presence of serum endomysial antibodies in children with chronic diarrhea, short stature, or insulin-dependent diabetes mellitus. 62 57
8345423 1993

Variations for Celiac Disease 1

Expression for Celiac Disease 1

Search GEO for disease gene expression data for Celiac Disease 1.

Pathways for Celiac Disease 1

GO Terms for Celiac Disease 1

Biological processes related to Celiac Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immunoglobulin production involved in immunoglobulin-mediated immune response GO:0002381 8.96 HLA-DQB1 HLA-DQA1
2 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.62 HLA-DQB1 HLA-DQA1

Molecular functions related to Celiac Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 8.8 HLA-DQB1 HLA-DQA1

Sources for Celiac Disease 1

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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