{"id":27194,"date":"2024-05-26T16:40:50","date_gmt":"2024-05-26T14:40:50","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27194"},"modified":"2025-08-27T10:53:49","modified_gmt":"2025-08-27T08:53:49","slug":"xeroderma-pigmentosum","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/xeroderma-pigmentosum\/","title":{"rendered":"Xeroderma Pigmentosum"},"content":{"rendered":"

Xeroderma Pigmentosum \u2013\u00a0Definition<\/h2><\/div>
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Xeroderma pigmentosum (OMIM #278700, #278720, #278730, #278740, #278750, #610651) is a genetic disease in which a defect in the DNA repair system prevents DNA damage caused by UV radiation from being detected and repaired, resulting in a high risk of tumor development in skin exposed to sunlight.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

XP, melanosis lenticularis progressiva<\/p>\n<\/div><\/div><\/div><\/div>

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Genes:<\/p>\n<\/div><\/div><\/div>

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade products:<\/p>\n<\/div><\/div><\/div>

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Detection of UV-induced DNA damage and global genome repair<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal recessive<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

1:1,000,000 in the USA and Europe, slightly elevated incidence in the Middle East, Japan, and North Africa<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

A genotype-phenotype correlation study is currently underway.<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

High<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>