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GENATLAS PHENOTYPE
last update : 25-02-2009
Symbol HYPOCA
Location 3q21.1
Name hypocalcemia with hyperphosphatemia and low PTH levels
Other name(s)
  • hypoparathyroidism, familial, isolated
  • autosomal dominant hypocalcaemia with hypercalciuria
  • Corresponding gene CASR
    Other symbol(s) PCAR1, FIH, ADHH
    Main clinical features . hypocalcemia with neuromuscular irritability, including perioral paresthesias, tingling of the fingers and toes, and spontaneous or latent tetany with grand mal seizures and laryngeal spasm
  • additional complications include nephrocalcinosisand basal ganglia calcification
  • Genetic determination autosomal dominant
    autosomal recessive
    Related entries isolated hypocalcemia autosomal dominant with activating mutation (Cole 2009)
    Function/system disorder endocrinology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   other activating CASR
    Remark(s)