Xeroderma pigmentosum

Common Name(s)

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop in infancy or early childhood. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least eight genes have been identified. The condition is inherited in an autosomal recessive manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Xeroderma pigmentosum" for support, advocacy or research.

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

 

 

General Support Organizations

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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 "Xeroderma pigmentosum" returned 372 free, full-text research articles on human participants. First 3 results:

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
 

Author(s): Christiane Kuschal, John J DiGiovanna, Sikandar G Khan, Richard A Gatti, Kenneth H Kraemer

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Nov;110(48):19483-8.

 

About 12% of human genetic disorders involve premature termination codons (PTCs). Aminoglycoside antibiotics have been proposed for restoring full-length proteins by readthrough of PTC. To assess the efficiency of readthrough, we selected homozygous and compound heterozygous skin ...

Last Updated: 27 Nov 2013

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Structural and sequence similarities of hydra xeroderma pigmentosum A protein to human homolog suggest early evolution and conservation.
 

Author(s): Apurva Barve, Saroj Ghaskadbi, Surendra Ghaskadbi

Journal: Biomed Res Int. 2013 ;2013():854745.

 

Xeroderma pigmentosum group A (XPA) is a protein that binds to damaged DNA, verifies presence of a lesion, and recruits other proteins of the nucleotide excision repair (NER) pathway to the site. Though its homologs from yeast, Drosophila, humans, and so forth are well studied, XPA ...

Last Updated: 1 Oct 2013

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In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum.
 

Author(s): Muhammad Nasir, Nafees Ahmad, Christian M K Sieber, Amir Latif, Salman Akbar Malik, Abdul Hameed

Journal:

 

Xeroderma Pigmentosum (XP) is a rare skin disorder characterized by skin hypersensitivity to sunlight and abnormal pigmentation. The aim of this study was to investigate the genetic cause of a severe XP phenotype in a consanguineous Pakistani family and in silico characterization ...

Last Updated: 15 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Xeroderma pigmentosum" returned 18 free, full-text review articles on human participants. First 3 results:

Xeroderma pigmentosum: man deprived of his right to light.
 

Author(s): Subhash Mareddy, Jithendra Reddy, Subhas Babu, Preethi Balan

Journal:

 

Xeroderma pigmentosum (XP) is a hereditary autosomal recessive disorder characterized by photo hypersensitivity of sun exposed tissues and subsequent several-fold increased risk for malignant changes resulting from impaired ability to repair UV-induced DNA damage. Estimated incidences ...

Last Updated: 24 Jan 2014

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Genetic correction of stem cells in the treatment of inherited diseases and focus on xeroderma pigmentosum.
 

Author(s): Sophie Rouanet, Emilie Warrick, Yannick Gache, Sabine Scarzello, Marie-Fran├žoise Avril, Fran├žoise Bernerd, Thierry Magnaldo

Journal:

 

Somatic stem cells ensure tissue renewal along life and healing of injuries. Their safe isolation, genetic manipulation ex vivo and reinfusion in patients suffering from life threatening immune deficiencies (for example, severe combined immunodeficiency (SCID)) have demonstrated the ...

Last Updated: 11 Oct 2013

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Genetic polymorphisms of xeroderma pigmentosum group D and prostate cancer risk: a meta-analysis.
 

Author(s): Hongcheng Zhu, Songyu Cao, Yun Liu, Xiangxiang Ding, Qianqian Wu, Hongxia Ma

Journal: J Cancer Res Ther. ;9(2):187-92.

 

The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene 2, ERCC2) is one of key genes involved in nucleotide excision repair and two potentially functional polymorphisms of XPD (Asp312Asn and Lys751Gln) have been widely investigated in ...

Last Updated: 17 Jun 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Xeroderma Pigmentosum Patient Experiences
 

Status: Recruiting

Condition Summary: Xeroderma Pigmentosum

 

Last Updated: 12 May 2010

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Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
 

Status: Recruiting

Condition Summary: Xeroderma Pigmentosum

 

Last Updated: 14 Mar 2014

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Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
 

Status: Recruiting

Condition Summary: Cockayne Syndrome; Skin Cancer; Xeroderma Pigmentosum; Trichothiodystrophy; Genodermatosis

 

Last Updated: 25 Apr 2014

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