Symbol
| CPOX
|
Location
| 3q12
|
Name
|
coproporphyria, hereditary acute hepatic porphyria |
Other name(s)
|
coproporphyrinogen oxidase deficiency |
Corresponding gene
|
CPOX
|
Other symbol(s)
| HCP
|
Main clinical features
|
characterized by acute neurovisceral crisis, sometimes associated with skin lesions, cutaneous photosensibility and neurological disturbances with an overproduction of coproporphyrin |
Genetic determination
| autosomal dominant |
Related entries
| harderoporphyria, with predominantly hematological disorders
|
Function/system disorder
| metabolism/porphyrin and heme |
Type
| disease
|