Details of Disease | DrugMAP

General Information of Disease (ID: DISHCN4B)

Disease Name	UV-sensitive syndrome
Synonyms	UVSS; UV sensitive syndrome
Definition	UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISN7YWO: DNA repair disease DISYJQB2: Hereditary photodermatosis DISHCN4B: UV-sensitive syndrome
Disease Identifiers	MONDO ID MONDO_0015797 MESH ID C563466 UMLS CUI C1833561 MedGen ID 322222 Orphanet ID 178338 SNOMED CT ID 698253007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UVSSA	OTQQMO1T	Supportive	Autosomal recessive	[1]
ERCC6	OT2QZKSF	Supportive	Autosomal recessive	[3]
ERCC8	OT0T4WKI	Supportive	Autosomal recessive	[4]
CSH1	OT33HTRR	Strong	Genetic Variation	[5]
CSH2	OTW8JVAN	Strong	Genetic Variation	[5]
NEFM	OT8VCBNF	Strong	Biomarker	[6]
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⏷ Show the Full List of 6 DOT(s)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NR1H2	TTXA6PH	Strong	Biomarker	[2]
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References

1	Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229.
2	What happens at the lesion does not stay at the lesion: Transcription-coupled nucleotide excision repair and the effects of DNA damage on transcription in cis and trans.DNA Repair (Amst). 2018 Nov;71:56-68. doi: 10.1016/j.dnarep.2018.08.007. Epub 2018 Aug 23.
3	Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15410-5. doi: 10.1073/pnas.0404587101. Epub 2004 Oct 14.
4	A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27.
5	Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state.Biochem Biophys Res Commun. 2018 Jun 2;500(2):163-169. doi: 10.1016/j.bbrc.2018.04.015. Epub 2018 Apr 9.
6	Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers.DNA Repair (Amst). 2002 Aug 6;1(8):629-43. doi: 10.1016/s1568-7864(02)00056-3.