Archives: Conditions A-Z
Prader-Willi/Angelman region disorders
Smith-Magenis syndrome: deletion disorder with sleep disturbance and behavioral features.
Primary biliary cholangitis
Autoimmune destruction of intrahepatic bile ducts leading to cholestasis and cirrhosis.
Primary sclerosing cholangitis
Progressive fibro-obliterative cholangitis with bile-duct strictures, linked to IBD and cholangiocarcinoma risk.
Primary hyperoxaluria
Hepatic overproduction of oxalate causing recurrent stones, nephrocalcinosis and systemic oxalosis.
Primary ciliary dyskinesia
Defective ciliary motility causing chronic respiratory infections and organ laterality defects.
Progressive familial intrahepatic cholestasis
Inherited cholestatic disorders presenting in infancy with severe pruritus and progressive liver disease.
Progressive supranuclear palsy
Tauopathy with vertical gaze palsy, postural instability and falls, axial rigidity.
Pulmonary alveolar proteinosis
Accumulation of surfactant in alveoli impairing gas exchange, usually autoimmune.