UVSS
MCID: UVS002
MIFTS: 21

Uv Sensitive Syndrome (UVSS) malady

Summaries for Uv Sensitive Syndrome

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21Genetics Home Reference, 32MalaCards
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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 cockayne syndrome and xeroderma pigmentosum. An important gene associated with Uv Sensitive Syndrome is UVSSA (UV-stimulated scaffold protein A), and among its related pathways are Chks in Checkpoint Regulation and Chromatin Regulation / Acetylation. Affiliated tissues include skin, and related mouse phenotypes are tumorigenesis and growth/size.

Aliases & Classifications for Uv Sensitive Syndrome

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42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 60UMLS
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Aliases & Descriptions:

uv sensitive syndrome 42 22
uv-sensitive syndrome 21 60
uvss 42 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
1cockayne syndrome30.5ERCC8, ERCC6
2xeroderma pigmentosum30.3ERCC8, ERCC6
3uv-sensitive syndrome 110.5
4uv-sensitive syndrome 310.4
5uv-sensitive syndrome 210.3

Graphical network of diseases related to Uv Sensitive Syndrome:



Diseases related to uv sensitive syndrome

Clinical Features for Uv Sensitive Syndrome

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Drugs & Therapeutics for Uv Sensitive Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Uv Sensitive Syndrome

Search NIH Clinical Center for Uv Sensitive Syndrome

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Uv Sensitive Syndrome:

32
Skin

Animal Models for Uv Sensitive Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Uv Sensitive Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7ERCC8, ERCC6, POLR2A
2MP:00053787.2ERCC8, ERCC6, BTAF1, POLR2A, USP7

Publications for Uv Sensitive Syndrome

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Genetic Variations for Uv Sensitive Syndrome

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Expression for genes affiliated with Uv Sensitive Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Uv Sensitive Syndrome

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Pathways for genes affiliated with Uv Sensitive Syndrome

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Sources:
51QIAGEN, 4Cell Signaling Technology, 29KEGG, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Uv Sensitive Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.2ERCC6, POLR2A
29.1BTAF1, POLR2A
39.0POLR2A, USP7
4
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8.7POLR2A, ERCC6, ERCC8
5
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8.7ERCC8, ERCC6, POLR2A
6
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8.7ERCC8, ERCC6, POLR2A

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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16Gene Ontology
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Cellular components related to Uv Sensitive Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.7ERCC8, ERCC6, POLR2A
2nucleusGO:0056347.2ERCC8, ERCC6, BTAF1, POLR2A, USP7

Biological processes related to Uv Sensitive Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to oxidative stressGO:0069799.5ERCC8, ERCC6
2response to X-rayGO:0101659.4ERCC8, ERCC6
3response to UVGO:0094119.2ERCC8, ERCC6, UVSSA
4nucleotide-excision repairGO:0062898.7POLR2A, ERCC6, ERCC8
5DNA repairGO:0062818.4ERCC8, ERCC6, POLR2A
6transcription-coupled nucleotide-excision repairGO:0062837.8ERCC8, ERCC6, UVSSA, POLR2A, USP7

Molecular functions related to Uv Sensitive Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA helicase activityGO:0036789.6ERCC8, ERCC6
2DNA-dependent ATPase activityGO:0080949.5ERCC8, ERCC6
3protein complex bindingGO:0324039.4ERCC6, ERCC8
4protein C-terminus bindingGO:0080229.4ERCC6, USP7
5ubiquitin protein ligase bindingGO:0316258.7POLR2A, USP7

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet