pseudopseudohypoparathyroidism

Term ID

DOID:4183

Synonyms

• Normocalcemic pseudohypoparathyroidism
• PPHP

Definition

A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele. https://pubmed.ncbi.nlm.nih.gov/17161328/

References

• GARD:7860
• MESH:D011556
• MIM:612463
• NCI:C129722
• SNOMEDCT_US_2023_03_01:190867002
• UMLS_CUI:C0033835

Ontology

Human Disease   ( DOID:4183 )