UVSS
MCID: UVS001
MIFTS: 39

Uv-Sensitive Syndrome (UVSS) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome

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Aliases & Descriptions for Uv-Sensitive Syndrome:

Name: Uv-Sensitive Syndrome 11 25 54 13 68
Uv Sensitive Syndrome 48 27
 
Uvss 48 25
Ultraviolet Sensitive Syndrome 25

Characteristics:

Orphanet epidemiological data:

54
uv-sensitive syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:0060240
MeSH39 563466
Orphanet54 ORPHA178338

Summaries for Uv-Sensitive Syndrome

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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 are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and RNA Polymerase I Promoter Escape. Affiliated tissues include skin and liver, and related mouse phenotypes are Increased cell death HMECs cells and Increased viability with MLN4924 (a NAE inhibitor).

Disease Ontology:11 An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).

Related Diseases for Uv-Sensitive Syndrome

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



Diseases related to uv-sensitive syndrome

Symptoms & Phenotypes for Uv-Sensitive Syndrome

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00103-A-09.5ERCC3, ERCC5, RAD51, STAT1, USP7
2GR00250-A-38.3ERCC2, ERCC3, ERCC6, ERCC8, FEN1, LIG1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, IGFBP7
2MP:00053798.0ERCC2, ERCC3, FEN1, IGFBP5, IGFBP7, LIG1
3MP:00053767.6ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1
4MP:00053847.5ERCC2, ERCC3, ERCC6, ERCC8, FEN1, IGFBP7
5MP:00020067.4ERCC2, ERCC3, ERCC6, ERCC8, FEN1, LIG1
6MP:00053786.6ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1
7MP:00107686.5ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1

Drugs & Therapeutics for Uv-Sensitive Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Uv-Sensitive Syndrome

Genetic Tests for Uv-Sensitive Syndrome

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Genetic tests related to Uv-Sensitive Syndrome:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome27

Anatomical Context for Uv-Sensitive Syndrome

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MalaCards organs/tissues related to Uv-Sensitive Syndrome:

36
Skin, Liver

Publications for Uv-Sensitive Syndrome

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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 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

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Expression for genes affiliated with Uv-Sensitive Syndrome

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

Pathways for genes affiliated with Uv-Sensitive Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.6ERCC2, ERCC3, ERCC6
2
Show member pathways
9.6ERCC2, ERCC3, ERCC6
3
Show member pathways
8.6ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
48.2ERCC2, ERCC3, FEN1, POLG, POLR2A, RAD51
5
Show member pathways
8.1ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
6
Show member pathways
7.2ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1
7
Show member pathways
7.2ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1

GO Terms for genes affiliated with Uv-Sensitive Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1core TFIIH complexGO:000043910.6ERCC2, ERCC3
2holo TFIIH complexGO:000567510.3ERCC2, ERCC3, ERCC5
3transcription elongation factor complexGO:00080239.4ERCC6, PGBD3
4nucleolusGO:00057307.6ENDOV, ERCC6, FEN1, PGBD3, POLR2A, RAD51
5nucleoplasmGO:00056546.0ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1
6nucleusGO:00056345.5ENDOV, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8

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

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1hair cell differentiationGO:003531510.6ERCC2, ERCC3
2nucleotide-excision repair, DNA duplex unwindingGO:000071710.6ERCC2, ERCC3
3regulation of mitotic cell cycle phase transitionGO:190199010.6ERCC2, ERCC3
47-methylguanosine mRNA cappingGO:000637010.3ERCC2, ERCC3, POLR2A
5DNA topological changeGO:000626510.3ERCC3, TOP1
6transcription elongation from RNA polymerase II promoterGO:000636810.3ERCC2, ERCC3, POLR2A
7nucleotide-excision repair, DNA incisionGO:003368310.3ERCC2, ERCC3, ERCC5
8nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.3ERCC2, ERCC3, ERCC5
9nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.3ERCC2, ERCC3, ERCC5
10nucleotide-excision repair, preincision complex assemblyGO:000629410.3ERCC2, ERCC3, ERCC5
11nucleotide-excision repair, preincision complex stabilizationGO:000629310.3ERCC2, ERCC3, ERCC5
12embryonic cleavageGO:004001610.2ERCC2, TOP1
13activation of JNKK activityGO:000725610.2ERCC6, PGBD3
14positive regulation of DNA-templated transcription, elongationGO:003278610.2ERCC6, PGBD3
15pyrimidine dimer repairGO:000629010.2ERCC6, PGBD3
16regulation of DNA-templated transcription, elongationGO:003278410.2ERCC6, PGBD3
17response to organic cyclic compoundGO:001407010.2IGFBP7, POLR2A, RAD51
18response to superoxideGO:000030310.2ERCC6, PGBD3
19response to UV-BGO:001022410.1ERCC6, PGBD3
20DNA metabolic processGO:000625910.1LIG1, POLG, RAD51
21nucleotide-excision repairGO:000628910.0ERCC2, ERCC3, ERCC5, ERCC8
22nucleic acid phosphodiester bond hydrolysisGO:009030510.0ENDOV, FEN1, POLG
23multicellular organism growthGO:00352649.8ERCC2, ERCC6, PGBD3
24response to gamma radiationGO:00103329.8ERCC6, PGBD3, POLG
25response to toxic substanceGO:00096369.7ERCC6, PGBD3, RAD51
26UV protectionGO:00096509.6ERCC2, ERCC3, ERCC5, FEN1
27transcription elongation from RNA polymerase I promoterGO:00063629.5ERCC2, ERCC3, ERCC6, PGBD3
28response to X-rayGO:00101659.5ERCC6, ERCC8, PGBD3, RAD51
29base-excision repairGO:00062849.4ERCC6, FEN1, LIG1, PGBD3
30DNA replicationGO:00062609.4FEN1, LIG1, POLG, TOP1
31response to oxidative stressGO:00069799.3ERCC2, ERCC3, ERCC6, ERCC8, PGBD3
32transcription from RNA polymerase II promoterGO:00063669.2ERCC2, ERCC3, ERCC6, PGBD3, POLR2A
33response to UVGO:00094118.8ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, PGBD3
34viral processGO:00160328.4ERCC2, ERCC3, STAT1, TOP1, USP7
35transcription-coupled nucleotide-excision repairGO:00062838.0ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
36cellular response to DNA damage stimulusGO:00069747.3ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1
37DNA repairGO:00062817.1ENDOV, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1DNA helicase activityGO:000367810.9ERCC6, ERCC8
2insulin-like growth factor bindingGO:000552010.6IGFBP5, IGFBP7
3endodeoxyribonuclease activityGO:000452010.5ERCC5, RAD51
4RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.3ERCC2, ERCC3
5endonuclease activityGO:000451910.2ENDOV, ERCC5, FEN1
6nuclease activityGO:000451810.2ENDOV, ERCC5, FEN1
7protein tyrosine kinase activator activityGO:003029610.0ERCC6, PGBD3
8helicase activityGO:00043869.6ERCC2, ERCC3, ERCC6, PGBD3
9single-stranded DNA bindingGO:00036979.1ERCC5, RAD51, TOP1
10protein N-terminus bindingGO:00474859.0ERCC2, ERCC3, ERCC5, ERCC6, PGBD3
11DNA-dependent ATPase activityGO:00080948.9ERCC2, ERCC3, ERCC6, ERCC8, PGBD3, RAD51
12double-stranded DNA bindingGO:00036908.9ERCC5, FEN1, RAD51, STAT1, TOP1
13chromatin bindingGO:00036828.8ERCC6, PGBD3, POLG, RAD51, TOP1
14protein C-terminus bindingGO:00080228.7ERCC2, ERCC3, ERCC6, PGBD3, RAD51, USP7
15hydrolase activityGO:00167878.3ENDOV, ERCC2, ERCC3, ERCC5, ERCC6, FEN1
16ATP bindingGO:00055248.3ERCC2, ERCC3, ERCC6, LIG1, PGBD3, RAD51
17DNA bindingGO:00036776.0ENDOV, ERCC2, ERCC3, ERCC5, ERCC6, FEN1
18protein bindingGO:00055155.0ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1

Sources for Uv-Sensitive Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet