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Pseudohypoparathyroidism type IB

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

Clinical Findings

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

Pathogenesis

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

Systematic

Pseudohypoparathyroidism
Albright hereditary osteodystrophy
Pseudohypoparathyroidism type IB
GNAS
GNAS-AS1
STX16

References:

1.

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

external link
2.

Orphanet article

Orphanet ID 94089 external link
3.

OMIM.ORG article

Omim 603233 external link
Update: Aug. 14, 2020
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