Pseudohypoparathyroidism type 1C (PHP1C) is a rare genetic disorder caused by a mutation in the GNAS gene. It is characterized by a combination of features of pseudohypoparathyroidism type 1A (PHP1A) and Albright hereditary osteodystrophy (AHO). People with PHP1C have the same features as those with PHP1A, including short stature, round face, and mental retardation, but they also have the skeletal abnormalities associated with AHO, such as shortening of the fourth and fifth metacarpals and metatarsals. PHP1C is caused by a mutation in the GNAS gene, which is responsible for the production of the Gsα protein, which is involved in the regulation of hormones such as parathyroid hormone (PTH

The symptoms of Pseudohypoparathyroidism type 1C can vary from person to person, but may include:

-Short stature
-Developmental delay
-Intellectual disability
-Delayed motor development
-Abnormal facial features
-Brachydactyly (short fingers and toes)
-Seizures
-Hypocalcemia (low calcium levels)
-Hyperphosphatemia (high phosphate levels)
-Hypomagnesemia (low magnesium levels)
-Hypothyroidism
-Obesity
-Insulin resistance
-Osteopenia (low bone density)
-Kidney stones
-Abnormal dentition (teeth)
-Behavioral problems

Pseudohypoparathyroidism type 1C is caused by a mutation in the GNAS gene, which is responsible for producing the Gs alpha protein. This protein is involved in the signaling pathway that helps regulate the production of hormones such as parathyroid hormone (PTH) and calcitonin. When the GNAS gene is mutated, it can lead to a decrease in the production of these hormones, resulting in the symptoms of pseudohypoparathyroidism type 1C.

The primary treatment for Pseudohypoparathyroidism type 1C is hormone replacement therapy. This involves taking medications such as calcitriol (vitamin D3) and parathyroid hormone (PTH) to replace the hormones that are not being produced by the body. Additionally, calcium and vitamin D supplements may be prescribed to help maintain healthy levels of calcium in the body. In some cases, surgery may be recommended to remove the abnormal parathyroid glands.

1. Genetic mutation in the GNAS gene
2. Family history of Pseudohypoparathyroidism type 1C
3. Female gender
4. Low birth weight
5. Premature birth
6. Low calcium levels in the blood
7. High levels of parathyroid hormone in the blood
8. Abnormalities in the kidneys and other organs

There is no cure for Pseudohypoparathyroidism type 1C, but medications can be used to manage the symptoms. These medications include calcium and vitamin D supplements, diuretics, and bisphosphonates. Additionally, hormone replacement therapy may be used to help regulate calcium levels.