Disease-gene associations mined from literature

Human genes for pseudohypoparathyroidism

Pseudohypoparathyroidism [DOID:4184]

Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is actually appropriately high (due to the hypocalcemia). Its pathogenesis has been linked to dysfunctional G Proteins (in particular, Gs alpha subunit).

Synonyms:  pseudohypoparathyroidism,  DOID:4184

Linkouts:  OMIM #1 #2 #3