Home Page
Orphanet References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 18/07/2006
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
    Gene product
    Name coproporphyrinogen oxidase (CPOX)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     K404E specific of harderoporphyria
    Genotype/Phenotype correlations harderoporphyria only due to five aminoacids substitution at position 400-404