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Pseudohypoparathyroidism type IB
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Pseudohypoparathyroidism type IB

Clinical feature: 

Definition: Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone without other endocrine or renal abnormalities.

Pathogenesis: Pseudohypoparathyroidism type 1b is associated with a paternal-specific imprinting pattern on both alleles.

Clinical picture: Clinical symptoms of pseudohypoparathyroidism typ 1 B are hypocalcemia, hyperphosphatemia, increased serum PTH, and a decreased response of urinary cAMP to administered PTH.

Systematic link table: 

Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16

Literature: 

Kim HS et al. (2001) The effect of parental imprinting on the INS-IGF2 locus of Korean type I diabetic patients.