UVSS
MCID: UVS002
MIFTS: 18

Uv Sensitive Syndrome (UVSS) malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Uv Sensitive Syndrome

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Sources:
21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Uv Sensitive Syndrome, also known as uv-sensitive syndrome, is related to uv-sensitive syndrome 1 and uv-sensitive syndrome 3.

Aliases & Classifications for Uv Sensitive Syndrome

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Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


Aliases & Descriptions:

uv sensitive syndrome 43 22
uv-sensitive syndrome 21 62
uvss 43 21
ultraviolet sensitive syndrome 21


Related Diseases for Uv Sensitive Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Uv-Sensitive Syndrome 1 family:

uv sensitive syndrome Uv-Sensitive Syndrome 3
Uv-Sensitive Syndrome 2

Diseases related to Uv Sensitive Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1uv-sensitive syndrome 110.5
2uv-sensitive syndrome 310.4
3cockayne syndrome10.4
4xeroderma pigmentosum10.3
5uv-sensitive syndrome 210.3

Graphical network of diseases related to Uv Sensitive Syndrome:



Diseases related to uv sensitive syndrome

Symptoms for Uv Sensitive Syndrome

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Drugs & Therapeutics for Uv Sensitive Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Uv Sensitive Syndrome

Search NIH Clinical Center for Uv Sensitive Syndrome

Genetic Tests for Uv Sensitive Syndrome

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22GTR
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Genetic tests related to Uv Sensitive Syndrome:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome22

Anatomical Context for Uv Sensitive Syndrome

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Animal Models for Uv Sensitive Syndrome or affiliated genes

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Publications for Uv Sensitive Syndrome

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52PubMed
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Articles related to Uv Sensitive Syndrome:

idTitleAuthorsYear
1
Telomere length and telomerase activity impact the UV sensitivity syndrome xeroderma pigmentosum C. (23288511)
2013
2
Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome]. (23631307)
2013
3
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. (22466612)
2012
4
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. (22466611)
2012
5
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. (22466610)
2012
6
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. (19329487)
2009
7
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. (16129663)
2006
8
UV-sensitive syndrome. (15916784)
2005
9
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. (15486090)
2004
10
A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations. (7513056)
1994

Variations for Uv Sensitive Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Uv Sensitive Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter)single nucleotide variantPathogenicrs121917903GRCh37Chr 10, 50740782: 50740782

Expression for genes affiliated with Uv Sensitive Syndrome

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15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Uv Sensitive Syndrome.

Pathways for genes affiliated with Uv Sensitive Syndrome

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Compounds for genes affiliated with Uv Sensitive Syndrome

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GO Terms for genes affiliated with Uv Sensitive Syndrome

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Products for genes affiliated with Uv Sensitive Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Uv Sensitive Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet