MCID: UVS001
MIFTS: 39

Uv-Sensitive Syndrome

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Uv-Sensitive Syndrome

MalaCards integrated aliases for Uv-Sensitive Syndrome:

Name: Uv-Sensitive Syndrome 12 25 59 29 6 15 40 73
Uvss 53 25
Ultraviolet Sensitive Syndrome 25
Uv Sensitive Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
uv-sensitive syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060240
MeSH 44 563466
Orphanet 59 ORPHA178338
UMLS via Orphanet 74 C1833561
UMLS 73 C1833561

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 uvss, is related to xeroderma pigmentosum, variant type and cockayne syndrome. An important gene associated with Uv-Sensitive Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), 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 Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

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

Wikipedia : 76 UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion,... more...

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 ERCC6 ERCC8 FEN1 LIG1 STAT1 UBE2E1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 ERCC5 ERCC6 ERCC8 FEN1 LIG1 STAT1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.61 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
4 Increased cell death HMECs cells GR00103-A-0 9.55 ERCC3 ERCC5 RAD51 STAT1 USP7

MGI Mouse Phenotypes related to Uv-Sensitive Syndrome:

46
# 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 POLG POLR2A RAD51 ERCC2 ERCC3 ERCC6
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 ERCC5 ERCC6 ERCC8 IGFBP7 LIG1 POLG
6 mortality/aging MP:0010768 9.77 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
7 neoplasm MP:0002006 9.28 ERCC2 ERCC3 ERCC6 ERCC8 FEN1 LIG1

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:

# Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 29 ERCC6

Anatomical Context for Uv-Sensitive Syndrome

MalaCards organs/tissues related to Uv-Sensitive Syndrome:

41
Skin, Liver

Publications for Uv-Sensitive Syndrome

Articles related to Uv-Sensitive Syndrome:

# 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 destabilize ERCC6 in transcription-coupled DNA repair. ( 22466612 )
2012
4
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. ( 22466610 )
2012
5
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair. ( 22466611 )
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
# 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
2 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh38 Chromosome 10, 49532736: 49532736
3 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
4 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
5 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
6 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
7 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
8 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564

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:

# 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 12.34 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:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.8 ERCC8 FEN1 POLG RAD51 STAT1 USP7
2 nucleolus GO:0005730 9.56 ENDOV ERCC6 FEN1 PGBD3 POLR2A RAD51
3 nucleoplasm GO:0005654 9.5 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
4 core TFIIH complex GO:0000439 9.37 ERCC2 ERCC3
5 holo TFIIH complex GO:0005675 9.33 ERCC2 ERCC3 ERCC5
6 nucleus GO:0005634 10.16 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 ERCC8

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.88 FEN1 LIG1 POLG TOP1
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.84 ENDOV FEN1 POLG
3 response to organic cyclic compound GO:0014070 9.83 ERCC8 IGFBP7 STAT1
4 transcription elongation from RNA polymerase II promoter GO:0006368 9.83 ERCC2 ERCC3 POLR2A
5 response to oxidative stress GO:0006979 9.83 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
6 multicellular organism growth GO:0035264 9.81 ERCC2 ERCC6 PGBD3
7 nucleotide-excision repair GO:0006289 9.76 ERCC2 ERCC3 ERCC5 ERCC8
8 nucleotide-excision repair, DNA incision GO:0033683 9.74 ERCC2 ERCC3 ERCC5
9 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.73 ERCC2 ERCC3 ERCC5
10 DNA repair GO:0006281 9.73 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
11 7-methylguanosine mRNA capping GO:0006370 9.72 ERCC2 ERCC3 POLR2A
12 response to gamma radiation GO:0010332 9.71 ERCC6 PGBD3 POLG
13 base-excision repair GO:0006284 9.71 ERCC6 FEN1 LIG1 PGBD3
14 nucleotide-excision repair, preincision complex assembly GO:0006294 9.7 ERCC2 ERCC3 ERCC5
15 response to UV GO:0009411 9.7 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 PGBD3
16 response to X-ray GO:0010165 9.69 ERCC6 ERCC8 PGBD3
17 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.67 ERCC2 ERCC3
18 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.67 ERCC2 ERCC3 ERCC5
19 transcription elongation from RNA polymerase I promoter GO:0006362 9.67 ERCC2 ERCC3 ERCC6 PGBD3
20 regulation of DNA-templated transcription, elongation GO:0032784 9.65 ERCC6 PGBD3
21 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.65 ERCC2 ERCC3 ERCC5
22 positive regulation of DNA-templated transcription, elongation GO:0032786 9.64 ERCC6 PGBD3
23 response to UV-B GO:0010224 9.63 ERCC6 PGBD3
24 DNA topological change GO:0006265 9.63 ERCC3 TOP1
25 regulation of mitotic cell cycle phase transition GO:1901990 9.62 ERCC2 ERCC3
26 activation of JNKK activity GO:0007256 9.62 ERCC6 PGBD3
27 UV protection GO:0009650 9.62 ERCC2 ERCC3 ERCC5 FEN1
28 embryonic cleavage GO:0040016 9.61 ERCC2 TOP1
29 response to superoxide GO:0000303 9.6 ERCC6 PGBD3
30 hair cell differentiation GO:0035315 9.59 ERCC2 ERCC3
31 pyrimidine dimer repair GO:0006290 9.58 ERCC6 PGBD3
32 transcription-coupled nucleotide-excision repair GO:0006283 9.32 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 LIG1
33 transcription by RNA polymerase II GO:0006366 10.05 ERCC2 ERCC3 ERCC6 PGBD3 POLR2A
34 viral process GO:0016032 10.01 ERCC2 ERCC3 STAT1 TOP1 USP7
35 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 15)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.77 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 FEN1
2 double-stranded DNA binding GO:0003690 9.72 ERCC5 FEN1 RAD51 STAT1 TOP1
3 nuclease activity GO:0004518 9.71 ENDOV ERCC5 FEN1
4 single-stranded DNA binding GO:0003697 9.69 ERCC5 RAD51 TOP1
5 endonuclease activity GO:0004519 9.67 ENDOV ERCC5 FEN1
6 helicase activity GO:0004386 9.67 ERCC2 ERCC3 ERCC6 PGBD3
7 protein N-terminus binding GO:0047485 9.65 ERCC2 ERCC3 ERCC5 ERCC6 PGBD3
8 protein C-terminus binding GO:0008022 9.63 ERCC2 ERCC3 ERCC6 PGBD3 RAD51 USP7
9 insulin-like growth factor binding GO:0005520 9.55 IGFBP5 IGFBP7
10 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.52 ERCC2 ERCC3
11 protein tyrosine kinase activator activity GO:0030296 9.48 ERCC6 PGBD3
12 DNA-dependent ATPase activity GO:0008094 9.1 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3 RAD51
13 protein binding GO:0005515 10.39 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
14 hydrolase activity GO:0016787 10.03 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 FEN1
15 ATP binding GO:0005524 10.01 ERCC2 ERCC3 ERCC6 LIG1 PGBD3 RAD51

Sources for Uv-Sensitive Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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