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GENATLAS PHENOTYPE
last update : 6/07/2006
Symbol HHC1
Location 3q21.1
Name hypercalcemia hypocalciuric, familial, benign 1
Corresponding gene CASR
Other symbol(s) FBH1, FHH1, PCAR1, FBHH, FHH
Main clinical features
  • neuromuscular symptoms, hyperphosphatemia and inappropriately low levels of parathyroid hormone, usually asymptomatic, mild to moderate, hypercalcemia
  • elevated plasma calcium levels, relative or absolute hypocalciuria, and normal to moderately elevated plasma PTH
  • Genetic determination autosomal dominant
    Related entries any cases of wild hypocalcemia with hyperphosphatemia and normal PTH
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name extracellular calcium sensing receptor (CASR)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)