Disease ID | Source | Name | Description |
618464 | OMIM | Paragangliomas 6 (PGL6) | An autosomal dominant tumor predisposition syndrome characterized by adult-onset development of paragangliomas, neural crest tumors usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Some of the tumors may secrete biologically active normetanephrine, resulting in secondary hypertension. PGL6 patients are at high risk for metastatic disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. |