pseudohypoparathyroidism type 1A

Term ID

DOID:0080053

Synonyms

• Albright hereditary osteodystrophy
• Albright's hereditary osteodystrophy
• PHP Ia

Definition

A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele. http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy

References

• GARD:7486
• MIM:103580
• ORDO:79443

Ontology

Human Disease   ( DOID:0080053 )