Disease Information
| CUI | C0162566 |
|---|---|
| Disease Name | Porphyria Cutanea Tarda |
| Synonymous | Porphyria cutanea tarda, NOS Symptomatic porphyria Urocoproporphyria Porphyria cutanea tarda symptomatica Cutaneous hepatic porphyria UROD deficiency Porphyria, hepatocutaneous type PCT PCT - Porphyria cutanea tarda CHP - Cutaneous hepatic porphyria Porphyria cutanea tarda (disorder) |
| Description | An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form. |
Gene Information
| CUI | Disease | Gene Symbol | Table Name |
|---|---|---|---|
| C0162566 | porphyria cutanea tarda | HFE | GAD |
