Familial hypoparathyroidism

rare

A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.

Identifiers: MONDO:0016390 Orphanet:2238
Part of: Hereditary hypoparathyroidism Inborn errors of metabolism
Also known as: Familial Isolated Hypoparathyroidism · hypoparathyroidism familial isolated · hypoparathyroidism, familial · hypoparathyroidism, familial isolated

Subtypes

All diseases Rare only

Disease Rare Not rare Subtypes

Autosomal dominant hypocalcemia MONDO:0018543 2
Hypoparathyroidism, familial isolated 1 MONDO:0007796 PTH 2
Hypoparathyroidism, familial isolated, 2 MONDO:0020798 GCM2

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