Disease Information
| CUI | C0162532 |
|---|---|
| Disease Name | Variegate Porphyria |
| Synonymous | PORPHYRIA, VARIEGATE South African genetic porphyria PORPHYRIA, SOUTH AFRICAN GENETIC Dean-Barnes syndrome PORPHYRIA CUTANEA TARDA HEREDITARIA PORPHYRIA, MIXED HEPATIC Porphyria variegata South African porphyria Mixed porphyria Protocoproporphyria Protoporphyrinogen Oxidase Deficiency Deficiencies, Protoporphyrinogen Oxidase VP - Variegate porphyria Variegate porphyria (disorder) |
| Description | An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen. |
Gene Information
| CUI | Disease | Gene Symbol | Table Name |
|---|---|---|---|
| C0162532 | Porphyria variegata, 176200 (3) | HFE | MorbidMap |
| C0162532 | PORPHYRIA VARIEGATA | HFE | OMIM2Gene |
