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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How do you compare to others with this condition?

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

Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.
 

Author(s): Nikola A Bowden, Natalie J Beveridge, Katie A Ashton, Katherine J Baines, Rodney J Scott

Journal:

 

Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fold increase in skin cancers from age 2 and rarely live beyond 30 years. There are seven genetic subgroups of XP, which are all resultant of pathogenic mutations ...

Last Updated: 18 Jul 2015

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SUMOylation of xeroderma pigmentosum group C protein regulates DNA damage recognition during nucleotide excision repair.
 

Author(s): Masaki Akita, Yon-Soo Tak, Tsutomu Shimura, Syota Matsumoto, Yuki Okuda-Shimizu, Yuichiro Shimizu, Ryotaro Nishi, Hisato Saitoh, Shigenori Iwai, Toshio Mori, Tsuyoshi Ikura, Wataru Sakai, Fumio Hanaoka, Kaoru Sugasawa

Journal:

 

The xeroderma pigmentosum group C (XPC) protein complex is a key factor that detects DNA damage and initiates nucleotide excision repair (NER) in mammalian cells. Although biochemical and structural studies have elucidated the interaction of XPC with damaged DNA, the mechanism of ...

Last Updated: 5 Jun 2015

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Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.
 

Author(s): Karina Miranda Santiago, Amanda França de Nóbrega, Rafael Malagoli Rocha, Silvia Regina Rogatto, Maria Isabel Achatz

Journal:

 

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different ...

Last Updated: 28 Apr 2015

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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 22 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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Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.
 

Author(s): Kenneth H Kraemer, John J DiGiovanna

Journal: Photochem. Photobiol.. ;91(2):452-9.

 

In 1968, Dr. James Cleaver reported defective DNA repair in cultured cells from patients with xeroderma pigmentosum. This link between clinical disease and molecular pathophysiology has sparked interest in understanding not only the clinical characteristics of sun sensitivity, damage ...

Last Updated: 10 Mar 2015

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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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Symptoms, Diagnosis, and Treatment

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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: 11 May 2016

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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: 11 May 2016

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