Disease Information
| CUI | C0010674 |
|---|---|
| Disease Name | Cystic Fibrosis |
| Synonymous | Cystic fibrosis NOS Fibrosis, Cystic Fibrocystic disease Mucoviscidosis CF CF - Cystic fibrosis Cystic fibrosis (disorder) [Ambiguous] Cystic fibrosis NOS (disorder) Cystic fibrosis (disorder) |
| Description | An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. most common potentially lethal autosomal recessive disease affecting Caucasians; characterized by chronic pulmonary, intestinal, liver, pancreatic, and exocrine gland dysfunction; caused by mutations of the CFTR chloride channel. A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003 |
Gene Information
| CUI | Disease | Gene Symbol | Table Name |
|---|---|---|---|
| C0010674 | Cystic Fibrosis | HFE | GAD |
