Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype of type Ia is characterized by Albright hereditary osteodystrophy (AHO) and resistance PTH and many other hormones, while that of type Ib shows hypothyroidism due to resistance to TSH restricted to renal tubule cells.
Endocrine and metabolic disease
Human diseases [BR:
Endocrine and metabolic diseases
Human diseases in ICD-11 classification [BR:
05 Endocrine, nutritional or metabolic diseases
Disorders of the parathyroids or parathyroid hormone system
SNARE interactions in vesicular transport
Mutation-inactivated GNAS to PTH-PTH1R-PKA signaling pathway
(Type Ia) GNAS (maternal inheritance) [HSA:
(Type Ib) GNAS (loss of imprinting) [HSA:
(Type Ib) STX16 (deletion) [HSA:
Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, Lania AG, Beck-Peccoz P, Spada A
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
J Clin Endocrinol Metab 92:3738-42 (2007)
Juppner H, Bastepe M
Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.
J Pediatr Endocrinol Metab 19 Suppl 2:641-6 (2006)
Bastepe M, Juppner H
GNAS locus and pseudohypoparathyroidism.
Horm Res 63:65-74 (2005)
Weinstein LS, Yu S, Warner DR, Liu J
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.
Endocr Rev 22:675-705 (2001)
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