. Author manuscript; available in PMC: 2012 Oct 1.

Published in final edited form as: J Bone Miner Res. 2011 Oct;26(10):2317–2337. doi: 10.1002/jbmr.483

TABLE 1.

Classification of Congenital Hypoparathyroid Disorders With Genetic Characterization

Disorder	Gene Defect/Chromosome Locus
*Isolated Hypoparathyroidism*
Autosomal recessive	PTH/11p15
Autosomal recessive	GCMB/6p24.2
Autosomal dominant	PTH/11p15
	CaSR/3q21.1
	GCMB/6p24.2
X-linked	SOX3/Xq26-27
*Hypoparathyroidism With Additional Features*
Polyglandular autoimmune syndrome	AIRE/21q22.3
DiGeorge syndrome	TBX1/22q11
Hypoparathyroidism-retardation-dysmorphism syndrome	TBCE/1q42-43
Hypoparathyroidism-deafness-renal dysplasia syndrome	GATA3/10p13-14
*Mitochondrial Disorders Associated With Hypoparathyroidism*
Kearns-Sayre syndrome	Mitochondrial genome
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes	Mitochondrial genome
Mitochondrial trifunctional protein deficiency syndrome	Unknown
*Several Other Forms*
*Defective PTH Action*
Pseudohypoparathyroidism
Type 1a	GNAS/20q13.3
Type 1b	GNAS/20q13.3
Blomstrand chondrodysplasia	PTHR1/3p22-p21.1