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GENATLAS PHENOTYPE
last update : 30-01-2010
Symbol HDR
Location 10p14
Name hypoparathyroidism -deafness- renal dysplasia syndrome
Other name(s)
  • Barakat syndrome
  • HDR syndrome
    • Corresponding gene GATA3
    Other symbol(s) DEL10P
    Main clinical features
  • hypoparathyroidism
  • sensorineural deafness, bilateral, symmetric, deficit affecting all frequencies but slightly more marked at the higher end of the frequency range
  • renal dysplasia, associated or not to genital tract malformation
    • Genetic determination autosomal dominant
    chromosomal
    Related entries DGS2
    Function/system disorder endocrinology
    ear
    kidney and urinary tract
    Type disease
    Gene product
    Name GATA-binding protein 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   haploinsufficiency missense mutations (T823A, W275R)
    insertion   truncated protein  
    nonsense     at exon 6 (C1099T, R367X)
    abnormal splicing      
      deletion haploinsufficiency usually cytogenetically visible 10p deletion including HDR and DGS2 critical regions
    Remark(s) mutations leading to a loss of DNA binding represent over 90 percent of all mutations
    Genotype/Phenotype correlations no mutations were identified in 14 patients with isolated hypoparathyroidism ; haploinsufficiency of GATA3 may be responsible for a complex neurologic picture besides the known triad