Congenital thrombotic thrombocytopenic purpura
Thrombotic Thrombocytopenic Purpura (TTP) is a rare but serious blood disorder characterized by the formation of small blood clots (thrombi) throughout the body, leading to…
Congenital sucrase-isomaltase deficiency
Congenital Sucrase-Isomaltase Deficiency (CSID) is a rare inherited disorder that affects the digestive system, causing difficulties in the breakdown of certain sugars in the body.…
Acute Hepatic Porphyria: Symptoms, Causes, Diagnosis, and Treatment
Acute hepatic porphyria (AHP) is a group of rare genetic disorders characterized by the accumulation of porphyrins and their precursors in the liver, leading to…
Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)
Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare primary immunodeficiency caused by genetic mutations in the PIK3CD or PIK3R1 genes, which regulate the phosphoinositide…