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autosomal dominant hypoparathyroidism; familial isolated hypoparathyroidism; autosomal dominant hypocalcemia

Epidemiology: rare Pathology: - inadequate secretion of parathyroid hormone Genetics: - autosomal dominant - defects in PTH - associated with defects in CASR - associated with defects in GCM2 Clinical manifestations: - seizures, tetany & cramps Laboratory: - serum Ca+2, serum albumin: hypocalcemia - serum phosphate: hyperphosphatemia Notes: - an autosomal recessive form may occur

General

hypoparathyroidism genetic disease of the endocrine system

Database Correlations

OMIM 146200

References

  1. UniProt :accession P41180
  2. UniProt :accession O75603
  3. OMIM :accession 146200