Disease ID | Source | Name | Description |
105200 | OMIM | Amyloidosis 8 (AMYL8) | A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system. The disease is caused by variants affecting the gene represented in this entry. |