Details of Disease

General Information of Disease (ID: DISNPX76)

Disease Name Xeroderma pigmentosum variant type
Synonyms
xeroderma pigmentosum variant; xeroderma pigmentosum, variant type; XPV; photosensitivity with defective DNA synthesis; xeroderma pigmentosum variant type; xeroderma pigmentosum with normal DNA repair rates
Definition Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.
Disease Hierarchy
DISQ9H19: Xeroderma pigmentosum
DISNPX76: Xeroderma pigmentosum variant type
Disease Identifiers
MONDO ID
MONDO_0010214
MESH ID
C536766
UMLS CUI
C1848410
OMIM ID
278750
MedGen ID
376352
Orphanet ID
90342

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GTPBP2 OTOJ1KUA moderate CausalMutation [1]
POLQ OTBHK0E6 moderate Genetic Variation [2]
POLH OTN07WXU Definitive Autosomal recessive [3]
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References

1 Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.J Dermatol Sci. 2008 Nov;52(2):144-8. doi: 10.1016/j.jdermsci.2008.07.001. Epub 2008 Aug 13.
2 Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.J Invest Dermatol. 2007 Jul;127(7):1745-51. doi: 10.1038/sj.jid.5700759. Epub 2007 Mar 8.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.