UVSS
MCID: UVS002
MIFTS: 25

Uv Sensitive Syndrome (UVSS) malady

Summaries for Uv Sensitive Syndrome

Sources:
21Genetics Home Reference, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 61UMLS
See all sources

Aliases & Descriptions:

uv sensitive syndrome 43 22
uv-sensitive syndrome 21 61
uvss 43 21


Related Diseases for Uv Sensitive Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome30.5ERCC8, ERCC6
2xeroderma pigmentosum30.4ERCC8, ERCC6
3uv-sensitive syndrome 110.5
4uv-sensitive syndrome 310.4
5n syndrome10.3
6char syndrome10.3
7uv-sensitive syndrome 210.3
8xeroderma pigmentosum, group b10.1
9xeroderma pigmentosum, group c10.1
10xeroderma pigmentosum, group g10.1
11xeroderma pigmentosum, group g/cockayne syndrome10.1

Graphical network of diseases related to Uv Sensitive Syndrome:



Diseases related to uv sensitive syndrome

Clinical Features for Uv Sensitive Syndrome

Drugs & Therapeutics for Uv Sensitive Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Uv Sensitive Syndrome

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

Sources:
22GTR
See all sources

Genetic tests related to Uv Sensitive Syndrome:

id Genetic test Affiliating Genes
1 Uv-sensitive Syndrome22

Anatomical Context for Uv Sensitive Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Uv Sensitive Syndrome:

33
Skin

Animal Models for Uv Sensitive Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Uv Sensitive Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7ERCC8, ERCC6, POLR2A
2MP:00053787.2ERCC8, ERCC6, BTAF1, POLR2A, USP7

Publications for Uv Sensitive Syndrome

Sources:
51PubMed
See all sources

Articles related to Uv Sensitive Syndrome:

idTitleAuthorsYear
1
Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome]. (23631307)
2013
2
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. (22466612)
2012
3
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. (22466611)
2012
4
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. (22466610)
2012

Genetic Variations for Uv Sensitive Syndrome

Expression for genes affiliated with Uv Sensitive Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Uv Sensitive Syndrome

Search GEO for disease gene expression data for Uv Sensitive Syndrome.

Pathways for genes affiliated with Uv Sensitive Syndrome

Sources:
52QIAGEN, 4Cell Signaling Technology, 30KEGG, 54Reactome, 38NCBI BioSystems Database
See all sources

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
Hide members
8.7POLR2A, ERCC6, ERCC8
5
Hide members
8.7ERCC8, ERCC6, POLR2A
6
Hide members
8.7ERCC8, ERCC6, POLR2A

Compounds for genes affiliated with Uv Sensitive Syndrome

GO Terms for genes affiliated with Uv Sensitive Syndrome

Sources:
16Gene Ontology
See all sources

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Uv Sensitive Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet