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 386 free, full-text research articles on human participants. First 3 results:

Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein.
 

Author(s): Syota Matsumoto, Eric S Fischer, Takeshi Yasuda, Naoshi Dohmae, Shigenori Iwai, Toshio Mori, Ryotaro Nishi, Ken-ichi Yoshino, Wataru Sakai, Fumio Hanaoka, Nicolas H Thomä, Kaoru Sugasawa

Journal: Nucleic Acids Res.. 2015 Feb;43(3):1700-13.

 

In mammalian nucleotide excision repair, the DDB1-DDB2 complex recognizes UV-induced DNA photolesions and facilitates recruitment of the XPC complex. Upon binding to damaged DNA, the Cullin 4 ubiquitin ligase associated with DDB1-DDB2 is activated and ubiquitinates DDB2 and XPC. The ...

Last Updated: 18 Feb 2015

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TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
 

Author(s): Amita Singh, Emanuel Compe, Nicolas Le May, Jean-Marc Egly

Journal: Am. J. Hum. Genet.. 2015 Feb;96(2):194-207.

 

Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy ...

Last Updated: 9 Feb 2015

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Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk.
 

Author(s): W K Zhou, L Y Huang, L Hui, Z W Wang, B Z Jin, X L Zhao, X Z Zhang, J X Wang, J C Wang, R Z Wang

Journal:

 

We aimed to investigate the role of 4 single nucleotide polymorphisms of the xeroderma pigmentosum complementation group F (XPF) gene (rs3136038, rs1799798, rs1800067, and rs2276466) in glioma, and the roles of gene-gene interactions in the risk of developing this type of cancer. ...

Last Updated: 18 Jun 2014

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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 21 free, full-text review articles on human participants. First 3 results:

Xeroderma pigmentosum group D polymorphisms and esophageal cancer susceptibility: a meta-analysis based on case-control studies.
 

Author(s): Rong Yang, Chong Zhang, Armah Malik, Zhi-Da Shen, Jian Hu, Yi-He Wu

Journal: World J. Gastroenterol.. 2014 Nov;20(44):16765-73.

 

To clarify the effects of the xeroderma pigmentosum group D (XPD) Asp312Asn and Lys751Gln gene polymorphisms on the risk of esophageal cancer (EC).

Last Updated: 3 Dec 2014

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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-Françoise Avril, Françoise 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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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; Melanoma; Squamous Cell Carcinoma; Basal Cell Carcinoma; Skin Cancer

 

Last Updated: 8 Nov 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: 28 Jul 2015

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