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

Rare disease

Projects

Including projects on subtypes.

No projects yet.