Genetic Disorders

A recent meta-analysis examines the incidence of hepatocellular carcinoma in patients with acute hepatic porphyria, identifying higher risks in certain subgroups. Test your knowledge of these findings with...

When evaluating a patient for possible Danon disease, several other diagnoses should be considered. Do you think you know the similar diagnoses to Danon disease? Take the quiz to test your knowledge!

Danon disease is a rare genetic disorder with three distinct characteristics that affect boys more severely than girls. Can you correctly identify the three main features of Danon disease? Take the quiz to...

Acute hepatic porphyria attacks are associated with several painful symptoms. Think you know the most common one? Take the quiz to find out!

Nephropathic cystinosis is a rare disease that may lead to the development of other diseases and complications in patients. Do you know some of the complications that can develop in patients due to...

Does every patient with the genetic mutation for acute hepatic porphyria experience symptoms? Take this pop quiz to find out!

Do you know which patient population is most likely to have an acute hepatic porphyrias attack? Take the quiz and find out!

There are four types of acute hepatic porphyria, but one type is significantly more common than the others. Are you familiar with the most common type of acute hepatic porphyria? Take this pop quiz to test...

As a genetic disorder, Fabry disease is caused by variants in a specific gene. Do you know which gene is affected?

Do you know which conditions are associated with autoimmune polyendocrine syndrome (APS) type 2 and which tests are useful in the diagnosis and management of APS type 2? Test your knowledge with this pop...