Xeroderma Pigmentosum Variant Type

About the Disease
Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, complementation group f and de sanctis-cacchione syndrome. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). The drugs Afamelanotide and Lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and tongue, and related phenotypes are failure to thrive and eeg abnormality

Common Targets
POLH | DDB2

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