Celiac Disease 1 (SPRUE)

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OMIM 57 212750 Disease Ontology 12 DOID:10608 ICD10 33 K90.0 ICD9CM 35 579.0 MeSH 44 D002446 NCIt 50 C26714

SNOMED-CT 68 23829007 MedGen 42 C1859310 KEGG 37 H02123 SNOMED-CT via HPO 69 258211005 21061000119107 35489007 78667006 48694002 15296000 8619003 123526007 400003000 64859006 281104002 43116000 128613002 246545002 313307000 84757009 91175000 85102008 302226006 42345000 42658009 36440009 432788009 278040002 56317004 161832001 262285001 89362005 87522002 415115007 6631009 83414005 249497008 300359004 422400008 267060006 62315008 21522001 17944005 27868004 66187002 396331005 115244002 118600007 188676008 21964009 29260007 41345002 57676002 5291005 166603001 166643006 75183008 362970003 64779008 41931001 60728008 409675001 237836003 26597004 699382004 699421005 409674002 20607006 61170000 110426005 398870000 426965005 427617000 52675005 165509000 190634004 190633005 34713006 82119001 46635009 more UMLS 73 C0007570 C0267642 C0205707

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Celiac Disease 1, also known as celiac disease, is related to refractory celiac disease and dermatitis herpetiformis, 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 NF-kappaB Signaling. Affiliated tissues include small intestine, testes and t cells, and related phenotypes are depressivity and seizures

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.

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.

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)

MedlinePlus : ⁴³ 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

Wikipedia : ⁷⁶ Coeliac disease, also spelled celiac disease, is a long-term autoimmune disorder that primarily affects... more...

GeneReviews: NBK1727

Clinical features from OMIM:

212750

Search Clinical Trials , NIH Clinical Center for Celiac Disease 1

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