UVSS
MCID: UVS001
MIFTS: 39

Uv-Sensitive Syndrome (UVSS) malady

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Uv-Sensitive Syndrome

Aliases & Descriptions for Uv-Sensitive Syndrome:

Name: Uv-Sensitive Syndrome 12 25 56 14 69
Uv Sensitive Syndrome 50 29
Uvss 50 25
Ultraviolet Sensitive Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
uv-sensitive syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060240
MeSH 42 563466
Orphanet 56 ORPHA178338

Summaries for Uv-Sensitive Syndrome

Genetics Home Reference : 25 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 based summary : Uv-Sensitive Syndrome, also known as uv sensitive syndrome, is related to uv-sensitive syndrome 1 and uv-sensitive syndrome 3. An important gene associated with Uv-Sensitive Syndrome is UVSSA (UV Stimulated Scaffold Protein A), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin and liver, and related phenotypes are Increased cell death HMECs cells and Increased viability with MLN4924 (a NAE inhibitor)

Disease Ontology : 12 An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).

Related Diseases for Uv-Sensitive Syndrome

Graphical network of the top 20 diseases related to Uv-Sensitive Syndrome:



Diseases related to Uv-Sensitive Syndrome

Symptoms & Phenotypes for Uv-Sensitive Syndrome

GenomeRNAi Phenotypes related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.35 ERCC3 ERCC5 RAD51 STAT1 USP7
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 RAD51 TOP1 ERCC2 ERCC3 ERCC6 ERCC8

MGI Mouse Phenotypes related to Uv-Sensitive Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
2 cellular MP:0005384 10.14 ERCC2 ERCC3 ERCC6 ERCC8 FEN1 IGFBP7
3 endocrine/exocrine gland MP:0005379 10.02 ERCC2 ERCC3 FEN1 IGFBP5 IGFBP7 LIG1
4 homeostasis/metabolism MP:0005376 10 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
5 integument MP:0010771 9.85 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 IGFBP7
6 mortality/aging MP:0010768 9.77 ERCC5 ERCC6 ERCC8 FEN1 LIG1 POLG
7 neoplasm MP:0002006 9.28 POLG POLR2A STAT1 ERCC2 ERCC3 ERCC6

Drugs & Therapeutics for Uv-Sensitive Syndrome

Search Clinical Trials , NIH Clinical Center for Uv-Sensitive Syndrome

Genetic Tests for Uv-Sensitive Syndrome

Genetic tests related to Uv-Sensitive Syndrome:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 29

Anatomical Context for Uv-Sensitive Syndrome

MalaCards organs/tissues related to Uv-Sensitive Syndrome:

39
Skin, Liver

Publications for Uv-Sensitive Syndrome

Articles related to Uv-Sensitive Syndrome:

id Title Authors Year
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 impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. ( 22466610 )
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 destabilize ERCC6 in transcription-coupled DNA repair. ( 22466612 )
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

ClinVar genetic disease variations for Uv-Sensitive Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh37 Chromosome 10, 50740782: 50740782

Expression for Uv-Sensitive Syndrome

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

Pathways for Uv-Sensitive Syndrome

Pathways related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
2
Show member pathways
12.64 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 LIG1
3 12.26 ERCC2 ERCC3 FEN1 POLG POLR2A RAD51
4
Show member pathways
11.93 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
5
Show member pathways
11.63 ERCC2 ERCC3 ERCC6
6
Show member pathways
11.56 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 LIG1
7 11.01 ERCC2 ERCC3 ERCC6

GO Terms for Uv-Sensitive Syndrome

Cellular components related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.56 ENDOV ERCC6 FEN1 PGBD3 POLR2A RAD51
2 nucleoplasm GO:0005654 9.47 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
3 transcription elongation factor complex GO:0008023 9.37 ERCC6 PGBD3
4 holo TFIIH complex GO:0005675 9.33 ERCC2 ERCC3 ERCC5
5 core TFIIH complex GO:0000439 9.32 ERCC2 ERCC3
6 nucleus GO:0005634 10.1 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 ERCC8

Biological processes related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.89 FEN1 LIG1 POLG TOP1
2 response to oxidative stress GO:0006979 9.88 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
3 response to organic cyclic compound GO:0014070 9.85 IGFBP7 POLR2A RAD51
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.84 ENDOV FEN1 POLG
5 response to toxic substance GO:0009636 9.83 ERCC6 PGBD3 RAD51
6 transcription elongation from RNA polymerase II promoter GO:0006368 9.83 ERCC2 ERCC3 POLR2A
7 multicellular organism growth GO:0035264 9.82 ERCC2 ERCC6 PGBD3
8 nucleotide-excision repair GO:0006289 9.76 ERCC2 ERCC3 ERCC5 ERCC8
9 nucleotide-excision repair, DNA incision GO:0033683 9.75 ERCC2 ERCC3 ERCC5
10 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.74 ERCC2 ERCC3 ERCC5
11 DNA metabolic process GO:0006259 9.73 LIG1 POLG RAD51
12 base-excision repair GO:0006284 9.73 ERCC6 FEN1 LIG1 PGBD3
13 DNA repair GO:0006281 9.73 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
14 response to gamma radiation GO:0010332 9.72 ERCC6 PGBD3 POLG
15 7-methylguanosine mRNA capping GO:0006370 9.71 ERCC2 ERCC3 POLR2A
16 transcription elongation from RNA polymerase I promoter GO:0006362 9.71 ERCC2 ERCC3 ERCC6 PGBD3
17 nucleotide-excision repair, preincision complex assembly GO:0006294 9.7 ERCC2 ERCC3 ERCC5
18 response to UV GO:0009411 9.7 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 PGBD3
19 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.69 ERCC2 ERCC3 ERCC5
20 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.67 ERCC2 ERCC3
21 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.67 ERCC2 ERCC3 ERCC5
22 response to X-ray GO:0010165 9.67 ERCC6 ERCC8 PGBD3 RAD51
23 regulation of DNA-templated transcription, elongation GO:0032784 9.66 ERCC6 PGBD3
24 positive regulation of DNA-templated transcription, elongation GO:0032786 9.65 ERCC6 PGBD3
25 response to UV-B GO:0010224 9.64 ERCC6 PGBD3
26 DNA topological change GO:0006265 9.63 ERCC3 TOP1
27 embryonic cleavage GO:0040016 9.63 ERCC2 TOP1
28 regulation of mitotic cell cycle phase transition GO:1901990 9.62 ERCC2 ERCC3
29 activation of JNKK activity GO:0007256 9.62 ERCC6 PGBD3
30 UV protection GO:0009650 9.62 ERCC2 ERCC3 ERCC5 FEN1
31 response to superoxide GO:0000303 9.61 ERCC6 PGBD3
32 hair cell differentiation GO:0035315 9.6 ERCC2 ERCC3
33 pyrimidine dimer repair GO:0006290 9.58 ERCC6 PGBD3
34 transcription-coupled nucleotide-excision repair GO:0006283 9.32 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 LIG1
35 transcription from RNA polymerase II promoter GO:0006366 10.05 ERCC2 ERCC3 ERCC6 PGBD3 POLR2A
36 viral process GO:0016032 10.01 ERCC2 ERCC3 STAT1 TOP1 USP7
37 cellular response to DNA damage stimulus GO:0006974 10 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1

Molecular functions related to Uv-Sensitive Syndrome according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.8 ERCC6 PGBD3 POLG RAD51 TOP1
2 DNA binding GO:0003677 9.77 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 FEN1
3 nuclease activity GO:0004518 9.72 ENDOV ERCC5 FEN1
4 double-stranded DNA binding GO:0003690 9.72 ERCC5 FEN1 RAD51 STAT1 TOP1
5 single-stranded DNA binding GO:0003697 9.69 ERCC5 RAD51 TOP1
6 endonuclease activity GO:0004519 9.67 ENDOV ERCC5 FEN1
7 helicase activity GO:0004386 9.67 ERCC2 ERCC3 ERCC6 PGBD3
8 protein N-terminus binding GO:0047485 9.65 ERCC2 ERCC3 ERCC5 ERCC6 PGBD3
9 protein C-terminus binding GO:0008022 9.63 ERCC2 ERCC3 ERCC6 PGBD3 RAD51 USP7
10 DNA helicase activity GO:0003678 9.58 ERCC6 ERCC8
11 endodeoxyribonuclease activity GO:0004520 9.57 ERCC5 RAD51
12 insulin-like growth factor binding GO:0005520 9.56 IGFBP5 IGFBP7
13 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.52 ERCC2 ERCC3
14 protein tyrosine kinase activator activity GO:0030296 9.48 ERCC6 PGBD3
15 DNA-dependent ATPase activity GO:0008094 9.1 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3 RAD51
16 protein binding GO:0005515 10.36 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
17 ATP binding GO:0005524 10.08 ERCC2 ERCC3 ERCC6 LIG1 PGBD3 RAD51
18 hydrolase activity GO:0016787 10.03 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 FEN1

Sources for Uv-Sensitive Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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