Version: 8.0.0
Date: Tue Jan 28 2025
pseudohypoparathyroidism type 1A
DOID:0080053
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

pseudohypoparathyroidism type 1A

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.
Synonyms
  • Albright hereditary osteodystrophy
  • Albright's hereditary osteodystrophy
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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