Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone without other endocrine or renal abnormalities.
Clinical symptoms of pseudohypoparathyroidism typ 1 B are hypocalcemia, hyperphosphatemia, increased serum PTH, and a decreased response of urinary cAMP to administered PTH.
Pseudohypoparathyroidism type 1b is associated with a paternal-specific imprinting pattern on both alleles.
Pseudohypoparathyroidism | ||||
Albright hereditary osteodystrophy | ||||
Pseudohypoparathyroidism type IB | ||||
GNAS | ||||
GNAS-AS1 | ||||
STX16 | ||||
1. |
Kim HS et al. (2001) The effect of parental imprinting on the INS-IGF2 locus of Korean type I diabetic patients. |
2. |
Orphanet article Orphanet ID 94089 |
3. |
OMIM.ORG article Omim 603233 |