Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
STX16

References:

1.

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

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2.

Orphanet article

Orphanet ID 94089 [^]
3.

OMIM.ORG article

Omim 603233 [^]
Update: May 10, 2019