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

More general terms

• hypoparathyroidism
• genetic disease of the endocrine system

Database

• OMIM: https://mirror.omim.org/entry/146200