UVSS
MCID: UVS001
MIFTS: 39

Uv-Sensitive Syndrome (UVSS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome

MalaCards integrated aliases for Uv-Sensitive Syndrome:

Name: Uv-Sensitive Syndrome 12 25 59 37 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
KEGG 37 H02131
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 cockayne syndrome and xeroderma pigmentosum, variant type. An important gene associated with Uv-Sensitive Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Nucleotide excision repair and Ubiquitin mediated proteolysis. 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 ERCC5 ERCC6 ERCC8 FEN1 LIG1 STAT1
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 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 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
[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
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
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
6
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. ( 16129663 )
2006
7
UV-sensitive syndrome. ( 15916784 )
2005
8
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. ( 15486090 )
2004
9
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 KEGG:

37
# Name Kegg Source Accession
1 Nucleotide excision repair hsa03420
2 Ubiquitin mediated proteolysis hsa04120

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 nucleus GO:0005634 9.86 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
2 nucleolus GO:0005730 9.76 ENDOV ERCC6 FEN1 PGBD3 POLR2A RAD51
3 protein-containing complex GO:0032991 9.73 ERCC8 FEN1 POLG RAD51 STAT1 USP7
4 nucleoplasm GO:0005654 9.5 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
5 transcription elongation factor complex GO:0008023 9.43 ERCC6 PGBD3
6 transcription factor TFIIH holo complex GO:0005675 9.4 ERCC2 ERCC3
7 transcription factor TFIIH core complex GO:0000439 9.37 ERCC2 ERCC3
8 nucleotide-excision repair complex GO:0000109 9.32 ERCC5 ERCC8

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.89 FEN1 LIG1 POLG TOP1
2 response to organic cyclic compound GO:0014070 9.85 ERCC8 IGFBP7 STAT1
3 response to oxidative stress GO:0006979 9.85 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.84 ENDOV FEN1 POLG
5 multicellular organism growth GO:0035264 9.83 ERCC2 ERCC6 PGBD3
6 transcription elongation from RNA polymerase II promoter GO:0006368 9.81 ERCC2 ERCC3 POLR2A
7 DNA duplex unwinding GO:0032508 9.77 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3
8 nucleotide-excision repair, DNA incision GO:0033683 9.75 ERCC2 ERCC3 ERCC5
9 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.74 ERCC2 ERCC3 ERCC5
10 nucleotide-excision repair GO:0006289 9.73 ERCC2 ERCC3 ERCC5 ERCC8
11 DNA repair GO:0006281 9.73 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
12 7-methylguanosine mRNA capping GO:0006370 9.72 ERCC2 ERCC3 POLR2A
13 response to gamma radiation GO:0010332 9.71 ERCC6 PGBD3 POLG
14 base-excision repair GO:0006284 9.71 ERCC6 FEN1 LIG1 PGBD3
15 nucleotide-excision repair, preincision complex assembly GO:0006294 9.7 ERCC2 ERCC3 ERCC5
16 response to UV GO:0009411 9.7 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 PGBD3
17 global genome nucleotide-excision repair GO:0070911 9.67 ERCC2 ERCC3
18 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.67 ERCC2 ERCC3 ERCC5
19 positive regulation of DNA-templated transcription, elongation GO:0032786 9.66 ERCC6 PGBD3
20 activation of JNKK activity GO:0007256 9.65 ERCC6 PGBD3
21 DNA topological change GO:0006265 9.65 ERCC3 TOP1
22 response to X-ray GO:0010165 9.65 ERCC6 ERCC8 PGBD3
23 regulation of DNA-templated transcription, elongation GO:0032784 9.64 ERCC6 PGBD3
24 response to UV-B GO:0010224 9.64 ERCC6 PGBD3
25 regulation of mitotic cell cycle phase transition GO:1901990 9.63 ERCC2 ERCC3
26 embryonic cleavage GO:0040016 9.62 ERCC2 TOP1
27 UV protection GO:0009650 9.62 ERCC2 ERCC3 ERCC5 FEN1
28 pyrimidine dimer repair GO:0006290 9.61 ERCC6 PGBD3
29 hair cell differentiation GO:0035315 9.61 ERCC2 ERCC3
30 response to superoxide GO:0000303 9.6 ERCC6 PGBD3
31 regulation of mitotic recombination GO:0000019 9.58 ERCC2 ERCC3
32 transcription elongation from RNA polymerase I promoter GO:0006362 9.56 ERCC6 PGBD3
33 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.51 ERCC2 ERCC3
34 transcription-coupled nucleotide-excision repair GO:0006283 9.32 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 LIG1
35 transcription by RNA polymerase II GO:0006366 10.06 ERCC2 ERCC3 ERCC6 PGBD3 POLR2A
36 viral process GO:0016032 10.02 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 19)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 FEN1
2 protein-containing complex binding GO:0044877 9.85 ERCC5 ERCC6 ERCC8 PGBD3
3 chromatin binding GO:0003682 9.85 ERCC6 PGBD3 POLG RAD51 TOP1
4 nuclease activity GO:0004518 9.74 ENDOV ERCC5 FEN1
5 double-stranded DNA binding GO:0003690 9.72 ERCC5 FEN1 RAD51 STAT1 TOP1
6 single-stranded DNA binding GO:0003697 9.71 ERCC5 RAD51 TOP1
7 helicase activity GO:0004386 9.71 ERCC2 ERCC3 ERCC6 PGBD3
8 endonuclease activity GO:0004519 9.7 ENDOV ERCC5 FEN1
9 damaged DNA binding GO:0003684 9.67 ERCC2 ERCC3 FEN1
10 protein N-terminus binding GO:0047485 9.65 ERCC2 ERCC3 ERCC5 ERCC6 PGBD3
11 DNA helicase activity GO:0003678 9.58 ERCC6 ERCC8
12 insulin-like growth factor binding GO:0005520 9.58 IGFBP5 IGFBP7
13 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.56 ERCC2 ERCC3
14 protein tyrosine kinase activator activity GO:0030296 9.51 ERCC6 PGBD3
15 protein C-terminus binding GO:0008022 9.5 ERCC2 ERCC3 ERCC6 PGBD3 POLR2A RAD51
16 DNA-dependent ATPase activity GO:0008094 9.1 ERCC2 ERCC3 ERCC6 ERCC8 PGBD3 RAD51
17 protein binding GO:0005515 10.3 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 FEN1
18 hydrolase activity GO:0016787 10.08 ENDOV ERCC2 ERCC3 ERCC5 ERCC6 FEN1
19 ATP binding GO:0005524 10.03 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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