Conditions / Genetic
pseudohypoparathyroidism type 1C
info · Genetic
A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.
Signs and symptoms
- Short metacarpal
- Round face
- Pseudohypoparathyroidism
- Elevated circulating parathyroid hormone level
- Elevated circulating thyroid-stimulating hormone concentration
- Hypocalcemia
- Obesity
- Low urinary cyclic AMP response to PTH administration
- Delayed eruption of teeth
- Brachydactyly
Also known as: PHP Ic