Familial porphyria cutanea tarda

Common Name(s)

Familial porphyria cutanea tarda

Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine ({18:Elder et al., 1980}). {14:De Verneuil et al. (1978)} and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I ({176090}), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver ({17:Elder et al., 1978}; {22:Felsher et al., 1982}), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues ({35:Kushner et al., 1976}; {18:Elder et al., 1980}). PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene ({613609}) that are responsible for hereditary hemochromatosis ({235200}) (review by {39:Lambrecht et al., 2007}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial porphyria cutanea tarda" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial porphyria cutanea tarda" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial porphyria cutanea tarda" returned 10 free, full-text research articles on human participants. First 3 results:

Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
 

Author(s): Aasne K Aarsand, Helge Boman, Sverre Sandberg

Journal: Clin. Chem.. 2009 Apr;55(4):795-803.

 

Porphyria cutanea tarda (PCT) occurs in sporadic (sPCT) and familial (fPCT) forms, which are generally clinically indistinguishable and have traditionally been differentiated by erythrocyte uroporphyrinogen decarboxylase (UROD, EC 4.1.1.37) activity. We used UROD gene sequencing as ...

Last Updated: 27 Mar 2009

Go To URL
A mouse model of familial porphyria cutanea tarda.
 

Author(s): J D Phillips, L K Jackson, M Bunting, M R Franklin, K R Thomas, J E Levy, N C Andrews, J P Kushner

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2001 Jan;98(1):259-64.

 

Approximately one-third of patients with porphyria cutanea tarda (PCT), the most common porphyria in humans, inherit a single mutant allele of the uroporphyrinogen decarboxylase (URO-D) gene. PCT associated with URO-D mutations is designated familial PCT. The phenotype is characterized ...

Last Updated: 26 Jan 2001

Go To URL
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
 

Author(s): M Mendez, L Sorkin, M V Rossetti, K H Astrin, A M del C Batlle, V E Parera, G Aizencang, R J Desnick

Journal: Am. J. Hum. Genet.. 1998 Nov;63(5):1363-75.

 

Familial porphyria cutanea tarda (f-PCT) results from the half-normal activity of uroporphyrinogen decarboxylase (URO-D). Heterozygotes for this autosomal dominant trait are predisposed to photosensitive cutaneous lesions by various ecogenic factors, including iron overload and alcohol ...

Last Updated: 23 Dec 1998

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial porphyria cutanea tarda" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda
 

Status: Recruiting

Condition Summary: Porphyria Cutanea Tarda

 

Last Updated: 26 Jan 2011

Go to URL