Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria.[1] HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the CPOX gene, and is inherited in an autosomal dominant fashion, although homozygous individuals have been identified. Unlike acute intermittent porphyria, individuals with HCP can present with cutaneous findings similar to those found in porphyria cutanea tarda in addition to the acute attacks of abdominal pain, vomiting and neurological dysfunction characteristic of acute porphyrias. Like other porphyrias, attacks of HCP can be induced by certain drugs, environmental stressors or diet changes. Biochemical and molecular testing can be used to narrow down the diagnosis of a porphyria and identify the specific genetic defect. Overall, porphyrias are rare diseases. The combined incidence for all forms of the disease has been estimated at 1:20,000. The exact incidence of HCP is difficult to determine, due to its reduced penetrance.
Hereditarycoproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. HCP is caused by a deficiency of the enzyme...
medical condition associated with this enzyme defect is called hereditarycoproporphyria. CPOX, the sixth enzyme of the haem biosynthetic pathway, converts...
in the abdomen Reactive arthritis Acute intermittent porphyria Hereditarycoproporphyria Variegate porphyria Dysuria at the U.S. National Library of Medicine...
specific mutations in the CPOX gene. Mutations in CPOX usually cause hereditarycoproporphyria, an acute hepatic porphyria, however the K404E mutation in a homozygous...
skin within 2–4 days of light exposure. Variegate porphyria and hereditarycoproporphyria can also exhibit symptoms of light-induced blisters. Sunlight...
test. Elevated urine porphobilinogen confirms diagnosis of AIP, hereditarycoproporphyria (HCP), or variegate porphyria (VP). A positive test should be...
"Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia". Annals of Internal Medicine. 173 (12): 989–1001...
cutaneous and neurocutaneous porphyrias (porphyria cutanea tarda, hereditarycoproporphyria, variegate porphyria and erythropoietic protoporphyria) have been...
hers is being repaired, much to House's dismay. Final diagnosis: Hereditarycoproporphyria (Emmy) and Malingering (Deedee, paid by House) 97 11 "Joy to the...
Alzheimer's disease Acute intermittent porphyria[verification needed] Hereditarycoproporphyria Variegate porphyria Side effects of stimulants such as cocaine...
"familial", hepatoerythropoietic porphyria is more similar to type 2. Hereditarycoproporphyria List of cutaneous conditions List of dental abnormalities associated...
and Neuraminidase Type 1 influenza HAS Holmes–Adie syndrome HCP Hereditarycoproporphyria HD Huntington's disease HDL2 Huntington's disease–like 2 HELLP...
specifically acute intermittent porphyria, variegate porphyria and hereditarycoproporphyria. Porphyria cutanea tarda is also associated with HCC, but with...
porphyrias (acute intermittent porphyria, porphyria cutanea tarda, hereditarycoproporphyria, variegate porphyria) and tyrosinemia type I are risk factors...
Porphyria and rare homozygous variants of Variegate Porphyria, HereditaryCoproporphyria, and STING-associated vasculopathy with onset in Infancy (SAVI)...
Capital Partners, a venture capital firm Healthcare professional Hereditarycoproporphyria Himalayan Cataract Project Human Connectome Project Hydrocephalus...
Global Information
