pseudohypoparathyroidism 1B

Home » Classic Medicine » Endocrinology » pseudohypoparathyroidism 1B
pseudohypoparathyroidism 1B2016-11-27T21:29:40+00:00

pseudohypoparathyroidism 1B

ENDOCRINOLOGY

An autosomal dominant form (OMIM:603233) of pseudohypoparathyroidism*, which is characterised by PTH-resistant hypocalcaemia and hyperphosphataemia. 

*A heterogeneous group of disorders characterised by resistance to parathyroid hormone

Clinical findings Patients with PHP1B lack developmental defects seen in Albright hereditary osteodystrophy, and their endocrinopathy is limited to PTH resistance. 

Molecular pathology Defects of: 

• GNAS, which encodes various proteins–depending on the splicing–involved in imprinting and regulating transcription

• STX1A, which encodes a syntaxin/target-SNAP receptor that allows specific synaptic vesicle docking and membrane fusion, 

cause pseudohypoparathyroidism 1B

References http://www.uniprot.org/uniprot/O14662

http://www.omim.org/entry/603233

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.