Renal Parathyroid Hormone Resistance

**Semantic type:** Finding

**Definition:** Parathyroid hormone resistance caused by defects in methylation in the GNAS gene that cause loss of expression of Gs-alpha from the maternal allele in renal tissue, resulting in decreased phosphate excretion and increased calcium excretion. Individuals with this condition may also have brachydactyly and partial resistance to thyroid-stimulating hormone.

**Synonyms:** - Pseudohypoparathyroidism Type 1b