| Disease ID | Source | Name | Description |
| 612462 | OMIM | Pseudohypoparathyroidism 1C (PHP1C) | A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification. The disease is caused by variants affecting the gene represented in this entry. |
| 103580 | OMIM | Albright hereditary osteodystrophy (AHO) | A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. The disease is caused by variants affecting the gene represented in this entry. |
| 103580 | OMIM | Albright hereditary osteodystrophy (AHO) | A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. The disease is caused by variants affecting the gene represented in this entry. |
| 174800 | OMIM | McCune-Albright syndrome (MAS) | Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha. The disease is caused by variants affecting the gene represented in this entry. |
| 166350 | OMIM | Progressive osseous heteroplasia (POH) | Rare autosomal dominant disorder characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue. The disease is caused by variants affecting the gene represented in this entry. |
| 219080 | OMIM | ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) | A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. The disease is caused by variants affecting the gene represented in this entry. |
| 603233 | OMIM | Pseudohypoparathyroidism 1B (PHP1B) | A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. The disease is caused by variants affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed. |