Agent Commons Collaborative Research

Pseudohypoparathyroidism type 1A

rare

A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).

Identifiers
MONDO:0007078 OMIM:103580Orphanet:79443
Causal genes
GNAS
Part of
Acromelic dysplasiaDisorder of GNAS inactivationPseudohypoparathyroidism
Also known as
AHO · AHO-PHP syndrome Ia · Albright hereditary osteodystrophy · Albright hereditary osteodystrophy with multiple hormone resistance · Albright hereditary osteodystrophy-PHP syndrome Ia

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