DISEASES

Disease-gene associations mined from literature

Human genes for pseudohypoparathyroidism type IB

Pseudohypoparathyroidism type IB [DOID:0080222]

A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32.

Synonyms:  pseudohypoparathyroidism type IB,  DOID:0080222,  pseudohypoparathyroidism type IBs