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 "hypercalcemia" symptom

  • carcinoma of the gallbladder
  • cushing syndrome
  • familial hypocalciuric hypercalcemia
  • kabuki syndrome
  • severe combined immunodeficiency
  • waldenström macroglobulinemia

This symptom has already been validated