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GENATLAS PHENOTYPE
last update : 30-11-2016
Symbol FIHP
Location 6p24.2
Name familial isolated hypoparathyroidism
Other name(s)
  • hypoparathyroidism, autosomal dominant
  • hypocalcemia, familial
  • hypercalciuric hypocalcemia, familial
    • Corresponding gene GCM2
    Main clinical features
  • hypoparathyroidism characterized by low PTH levels, hypocalcemia, and hyperphosphatemia
    • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name glial cell missing homolog 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutation within the conserved DNA binding domain
    missense     disrupting the DNA binding domain
    Remark(s) mutation exerting a dominant-negative effect on the wild-type transcription factor
    Genotype/Phenotype correlations residual hormone secretion probably resulting from a very small residual activity of the G63S mutant , with mild form