Disease or Syndrome
Barakat syndrome
Definitions related to barakat syndrome:
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(hypoparathyroidism, sensorineural deafness, and renal disease) HDR syndrome (HDR), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018). (OMIM)Online Mendelian Inheritance in ManJohns Hopkins University, 2021
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A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys.NCI ThesaurusU.S. National Cancer Institute, 2021
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Barakat syndrome, also known as HDR syndrome, is a rare, genetic syndrome characterized by h ypoparathyroidism, s ensorineural deafness, and r enal (kidney) disease. However, specific symptoms and severity can vary. About 65% of people with Barakat syndrome have all three of these features, while the others have various combinations of...National Center for Advancing Translational Sciences
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