UVSS
MCID: UVS002
MIFTS: 18

Uv Sensitive Syndrome (UVSS) malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Uv Sensitive Syndrome

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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

About this section
Sources:
44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 63UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

uv sensitive syndrome 44 23
uv-sensitive syndrome 22 63
uvss 44 22
ultraviolet sensitive syndrome 22


Related Diseases for Uv Sensitive Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
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:

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

About this section

Drugs & Therapeutics for Uv Sensitive Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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

About this section
Sources:
23GTR
See all sources

Genetic tests related to Uv Sensitive Syndrome:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome23

Anatomical Context for Uv Sensitive Syndrome

About this section

Animal Models for Uv Sensitive Syndrome or affiliated genes

About this section

Publications for Uv Sensitive Syndrome

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
16Gene Expression Omnibus DataSets
See all sources

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

Pathways for genes affiliated with Uv Sensitive Syndrome

About this section

Compounds for genes affiliated with Uv Sensitive Syndrome

About this section

GO Terms for genes affiliated with Uv Sensitive Syndrome

About this section

Products for genes affiliated with Uv Sensitive Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Uv Sensitive Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet