| Disease ID | Source | Name | Description |
| 101800 | OMIM | Acrodysostosis 1, with or without hormone resistance (ACRDYS1) | A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities. The disease is caused by variants affecting the gene represented in this entry. |
| 160980 | OMIM | Carney complex 1 (CNC1) | CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. The disease is caused by variants affecting the gene represented in this entry. |
| 255960 | OMIM | Intracardiac myxoma (INTMYX) | Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 610489 | OMIM | Primary pigmented nodular adrenocortical disease 1 (PPNAD1) | A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations. The disease is caused by variants affecting the gene represented in this entry. |