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GTR Home > Conditions/Phenotypes > Celiac disease, susceptibility to, 1

Summary

Excerpted from the GeneReview: Celiac Disease
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.

Genes See tests for all associated and related genes

  • Also known as: CELIAC1, DQ-A1, DQA1, HLA-DQA, HLA-DQA1*, HLA-DQB1, HLA-DQA1
    Summary: major histocompatibility complex, class II, DQ alpha 1

  • Also known as: CELIAC1, HLA-DQB, IDDM1, HLA-DQB1
    Summary: major histocompatibility complex, class II, DQ beta 1

Clinical features

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