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last update : 07-01-2009
Symbol HPT2
Location 3q21.1
Name hypoparathyroidism 2
Other name(s) hypoparathyroidism, familial isolated
Corresponding gene CASR
Other symbol(s) PCAR1, FIH
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
  • also mild neuromuscular irritability, calcification of the basal ganglia, extrapyramidal disorders, cataracts, alopecia, abnormal dentition, coarse brittle hair, mental retardation, or personality disorders
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name extracellular calcium sensing receptor (CASR)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function mutation F821L, localized in the sixth transmembrane domain of CASR, severe form