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XP
MCID: XRD001
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Xeroderma Pigmentosum malady |
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130 genes, 8 tissues, 586 related diseases, 27 phenotypes, 303 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: 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.30
MalaCards: Xeroderma Pigmentosum, also known as desanctis-cacchione syndrome, is related to xeroderma pigmentosum, group c and xeroderma pigmentosum, group a. An important gene associated with Xeroderma Pigmentosum is XPC (xeroderma pigmentosum, complementation group C), and among its related pathways are Dual incision reaction in GG-NER and Formation of incision complex in GG-NER. The compounds 8-oxoguanine and egcg have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and lung, and related mouse phenotypes are endocrine/exocrine gland and craniofacial. Genetics Home Reference: Xeroderma pigmentosum, which is commonly known as 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.17 Wikipedia: Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the...44 more... OMIM: 278800 GeneReviews summary for xp |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 24MeSH See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 278800
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for xeroderma pigmentosum Drug clinical trials:Search ClinicalTrials for xeroderma pigmentosum Search NIH Clinical Center for xeroderma pigmentosum Search CenterWatch for xeroderma pigmentosum |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to xeroderma pigmentosum:22Brain, Liver, Lung, Breast, Skin, Prostate, T cells, B cells
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to xeroderma pigmentosum:25 (show all 27)
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Sources: 35PubMed See all sources |
Articles related to xeroderma pigmentosum:(show top 50) (show all 303)
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Sources: 1BioGPS See all sources |
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Sources: 38Reactome, 34PharmGKB, 41Thomson Reuters, 10EMD Millipore, 36QIAGEN, 20KEGG, 3Cell Signaling Technology See all sources |
Pathways related to xeroderma pigmentosum according to GeneDecks:(show top 50) (show all 68)
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Sources: 32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB, 42Tocris Bioscience See all sources |
Compounds related to xeroderma pigmentosum according to GeneDecks:(show top 50) (show all 266)
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Sources: 12Gene Ontology See all sources |
Cellular components related to xeroderma pigmentosum according to GeneDecks:(show all 14)
Biological processes related to xeroderma pigmentosum according to GeneDecks:(show top 50) (show all 75)
Molecular functions related to xeroderma pigmentosum according to GeneDecks:(show all 19)
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