Rare Diseases Symptoms Automatic Extraction

Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor.

[familial hypocalciuric hypercalcemia]

Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.

Diseases presenting "heterozygous inactivating mutations of the calcium sensing receptor" symptom

  • familial hypocalciuric hypercalcemia

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