pseudohypoparathyroidism type 1B

pseudohypoparathyroidism type 1B

A form (OMIM:603233) of pseudohypoparathyroidism, a heterogeneous group of disorders characterised by resistance to parathyroid hormone, which is characterised by PTH-resistant hypocalcaemia and hyperphosphataemia. Patients with PHP1B lack developmental defects seen in Albright hereditary osteodystrophy, and their endocrinopathy is limited to PTH resistance.
 
Molecular pathology
Pseudohypoparathyroidism type 1B is caused by defects of:
(1) STX1A, which encodes a syntaxin/target-SNAP receptor that allows specific synaptic vesicle docking and membrane fusion; and
(2) GNAS, which encodes various proteins—depending on the splicing—involved in imprinting and regulating transcription.
References in periodicals archive ?
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometricanalysis.
Pseudohypoparathyroidism type 1b: first case report in Chinese and literature review.
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b. Hum Mutat 2013;34:1172-1180.
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