Genetic Disorders

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...

Fabry disease affects multiple bodily systems. Do you know which systems are impacted the most?

Take our pop quiz to find out the least severe form of Ehlers-Danlos syndrome.

In this new interactive quiz, we present a case of a 4-month-old girl who presents with signs of joint pain and hyperpigmentation of the skin over the joints. Can you take the correct diagnostic steps and...