Pseudohypoparathyroidism (Subscribe)  

ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO #103580 Alternative titles; PSEUDOHYPOPARATHYROIDISM, TYPE IA, INCLUDED PHP IA, INCLUDED PHP1A, INCLUDED PSEUDOPSEUDOHYPOPARATHYROIDISM, INCLUDED; PPHP, INCLUDED PSEUDOHYPOPARATHYROIDISM, TYPE IC, INCLUDED PHP IC, INCLUDED Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone (PTH; 168450). It is generally classified as types Ia, Ib (603233),...

A heritable syndrome featuring: hypocalcemia brachydactyly moderate dwarfing mental retardation soft tissue calcifications basal ganglia calcifications cataracts tetany hyperphosphatemia and hypocalcemia (PTH resistant) normal PTH levels

Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biological activity of PTH. Synonyms and related keywords: PHP, Albright hereditary osteodystrophy, AHO, pseudopseudohypoparathyroidism, pseudo-PHP, parathyroid hormone, PTH, stimulatory G protein, Gsa, GNAS1, hypocalcemia, hyperphosphatemia, testotoxicosis, dental hypoplasia,...

3 synonyms or equivalents were found. Pseudohypoparathyroidism type 1a aka/or Seabright Bantam syndrome aka/or Albright's hereditary osteodystrophy Pseudohypoparathyroidism type 1a: Definition(s) via UMLS..... Pseudohypoparathyroidism: "A hereditary condition clinically resembling HYPOPARATHYROIDISM, but caused by failure of response to rather than deficiency of parathyroid hormones. It is characterized by hypocalcemia and hyperphosphatemia, and is commonly associated with short stature, obesity,...

Pseudohypoparathyroidism type 1b may cause or feature Biochemical abnormalities Hyperphosphataemia Hypocalcaemia

Discussion: - lack of responsiveness to PTH due to defect in adenyl cyclase; - clinical picture may resemble of hypoparathyroidism; - due to inability of bone & kidney to respond to parathyroid hormone, hypocalcemia and hyperphosphatemia ...

Study of Growth Hormone Use in Pseudohypoparathyroidism Type 1a and Pseudopseudohypoparathyroidism This study is currently recruiting patients. Verified by FDA Office of Orphan Products Development September 2005 Sponsors and Collaborators: Food and Drug Administration (FDA) FDA Office of Orphan Products Development Thrasher Research Fund Johns Hopkins University