Celiac Disease 1 (CELIAC1)

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Disease Ontology 12 DOID:10608 OMIM 56 212750 OMIM Phenotypic Series 56 PS212750 KEGG 36 H02123 ICD9CM 34 579.0 MeSH 43 D002446 NCIt 49 C26714

SNOMED-CT 67 396331005 ICD10 32 K90.0 MedGen 41 C1859310 SNOMED-CT via HPO 68 110426005 115244002 118600007 123526007 128613002 15296000 161832001 166603001 166643006 17944005 188676008 190633005 190634004 20607006 21061000119107 21522001 21964009 237836003 246545002 249497008 258211005 262285001 26597004 267060006 278040002 27868004 281104002 29260007 300359004 302226006 313307000 34713006 35489007 362970003 36440009 398870000 400003000 409674002 409675001 41345002 415115007 41931001 422400008 42345000 42658009 426965005 427617000 43116000 432788009 46635009 48694002 52675005 5291005 56317004 57676002 60728008 61170000 62315008 64779008 64859006 66187002 6631009 699382004 699421005 75183008 78667006 82119001 83414005 84757009 85102008 8619003 87522002 89362005 91175000 more EFO 17 EFO_0001060 UMLS 71 C0007570 C0205707 C0267642

Genetics Home Reference : ²⁵ 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 refractory celiac disease and autoimmune disease, and has symptoms including abdominal pain, constipation 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 Cell adhesion molecules (CAMs). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include small intestine to gliadin, small intestine and testes, and related phenotypes are vitamin b12 deficiency and short stature

Disease Ontology : ¹² 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.

NIH Rare Diseases : ⁵² 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 . Treatment is a lifelong, gluten-free diet.

OMIM : ⁵⁶ 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)

MedlinePlus : ⁴² 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

KEGG : ³⁶ Celiac disease is a chronic gluten intolerance that occurs in genetically predisposed individuals. The ingestion of gluten causes chronic inflammation of the small intestinal mucosa, leading to nutrient malabsorption. Susceptibility to celiac disease is strongly associated with particular HLA class II alleles. However, non-HLA genetic factors are likely to be required for the development of the disease. It has been reported that CTLA4 and MYO9B gene polymorphisms are associated with predisposition to celiac disease.

Wikipedia : ⁷⁴ Coeliac disease or celiac disease is a long-term immune disorder that primarily affects the small... more...

GeneReviews: NBK1727

Clinical features from OMIM:

212750

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