GATA3

Families

Hypoparathyroidism, Sensory Neural Deafness, and Renal Disease, known as “HDR” or “Barakat” syndrome is a rare syndrome characterized by a triad of Hypoparathyroidism (H), sensorineural Deafness (D), and Renal disease (R). It is either the result of a spontaneous mutation or inherited in an autosomal dominant pattern, from an affected parent. Most with the condition have the full spectrum of symptoms, but some have variable presentations.
GATA3 mutations are also found in many different types of cancers throughout different organ systems.