Genetic Disorders

What Is Dermatitis Herpetiformis? Dermatitis herpetiformis (DH) is an autoimmune extremely itchy, painful bullous skin rash (blistering eruptions) arising from the underlying dermis layer of skin as a consequence of gluten sensitivity. Dermatitis herpetiformis is characterized by multiple intensely itchy, ...

What Is Sarcoidosis? Sarcoidosis is a multisystem granulomatous disease characterized by hard granulomas and inflammation of the alveoli in lungs that occurrs in 80% of patients. Alveoli are the tiny one cell thick round structures that are clustered at the ...

What Is Juvenile Idiopathic Arthritis? Juvenile idiopathic arthritis (JIA) is a rheumatic disorder characterized by chronic, inflammatory disease of large and small synovial joints and other organs in children under age 16 years. Growth and development may be impaired in ...

 What Is Psoriasis? Psoriasis is a chronic, autommune relapsing skin disorder characterized by scaling, erythema (redness), and less commonly, pustulation.1  The body surface area affected and the degree to which psoriasis is a problem varies considerably among patients and over time.2 Often ...

What Is Schizophrenia? Schizophrenia is a thought disorder characterized by psychotic symptoms and inappropriate and bizarre behavior. Schizophrenia involves dysfunction in any of these areas: Cognition which are thinking skills that include intellect, language, mathematical ability, memory, perception, reasoning, judgment, ...

What Are Autoimmune Polyglandular Syndromes? Autoimmune polyglandular syndromes (APS) are rare clusterings of two or more endocrine and non-endocrine autoimmune disorders in the same affected person. Polyglandular is somewhat of a misnomer since many of the manifestations of the diseases ...

What Is Juvenile Autoimmune Thyroid Disease? Juvenile autoimmune thyroid disease is an autoimmune disorder occurring in childhood that targets and damages the thyroid gland, often causing goiter. It is characterized by abnormal circulating thyroid hormone levels in the bloodstream. Recent evidence ...

What Is Dermatitis Herpetiformis In Childhood? Dermatitis herpetiformis in childhood is an inflammatory skin manifestation of celiac disease in which immunoglobulin A (IgA) autoantibodies target components of the skin, leading to blister formation caused by ingestion of gluten in the diet.   Dermatitis ...

What Is Juvenile Type 1 Diabetes Mellitus? Juvenile diabetes is type I diabetes mellitus that begins in childhood or before the age of 25 years. It is an inherited inflammatory autoimmune disease of the pancreas in which anti-islet autoantibodies destroy the ...

What Is Cystic Fibrosis? Cystic fibrosis is a genetic disease of the exocrine glands which causes the body to produce abnormally thick and sticky mucus and results in progressive damage to the respiratory system and digestive problems. Severity of disease depends ...

What Is Psoriatic Arthritis? Psoriatic arthritis is a joint manifestation of psoriasis, a systemic autoimmune disease, characterized by asymmetric involvement in one or more joints, especially affecting the distal phalangeal joints of fingers and toes (joints nearest nails). In some ...

What Is Type I Diabetes Mellitus? Type 1 diabetes mellitus (T1DM), also termed type 1A, is an inherited autoimmune disorder in which anti-islet autoantibodies destroy the islet cells of the pancreas that secrete insulin hormone. Type 1 diabetes mellitus was formerly ...

What Is Hemochromatosis? Hemochromatosis, also called iron overload liver disease, is a common inherited disease in the Caucasian population that is characterized by increased iron deposition within the tissues (overload) associated with injury to them. Hemochromatosis is an autosomal recessive disease, meaning ...