MCID: UVS001
MIFTS: 38

Uv-Sensitive Syndrome 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 2 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 RNA Polymerase I Promoter Escape and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. 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 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-09.2ERCC3, ERCC5, RAD51, STAT1, USP7
2GR00250-A-38.5ERCC2, ERCC3, ERCC6, ERCC8, LIG1, RAD51

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3ERCC2, ERCC3, IGFBP5, IGFBP7, LIG1, POLG
2MP:00107717.8ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, IGFBP7
3MP:00020067.7ERCC2, ERCC3, ERCC6, ERCC8, LIG1, POLG
4MP:00053847.7ERCC2, ERCC3, ERCC6, ERCC8, IGFBP7, LIG1
5MP:00053786.7ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, IGFBP5
6MP:00107686.4ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1

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 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

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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
1
Show member pathways
9.5ERCC2, ERCC3, ERCC6
29.5ERCC2, ERCC3, ERCC6
3
Show member pathways
9.2ERCC2, ERCC3, LIG1, POLR2A
48.5ERCC2, ERCC3, POLG, POLR2A, RAD51
5
Show member pathways
8.4ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
68.2LIG1, RAD51, STAT1, TOP1
7
Show member pathways
7.9ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
8
Show member pathways
7.4ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
9
Show member pathways
7.4ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1

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:000043910.5ERCC2, ERCC3
2holo TFIIH complexGO:000567510.1ERCC2, ERCC3, ERCC5
3nucleolusGO:00057308.5ENDOV, ERCC6, POLR2A, RAD51, STAT1, TOP1
4nucleoplasmGO:00056545.9ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1DNA biosynthetic processGO:007189710.5LIG1, POLG
2DNA metabolic processGO:000625910.5LIG1, POLG
3hair cell differentiationGO:003531510.4ERCC2, ERCC3
4nucleotide-excision repair, DNA duplex unwindingGO:000071710.4ERCC2, ERCC3
5regulation of mitotic cell cycle phase transitionGO:190199010.4ERCC2, ERCC3
6nucleotide-excision repairGO:000628910.2ERCC2, ERCC3, ERCC8
77-methylguanosine mRNA cappingGO:000637010.2ERCC2, ERCC3, POLR2A
8response to X-rayGO:001016510.2ERCC6, ERCC8, RAD51
9transcription elongation from RNA polymerase I promoterGO:000636210.2ERCC2, ERCC3, ERCC6
10transcription elongation from RNA polymerase II promoterGO:000636810.1ERCC2, ERCC3, POLR2A
11transcription initiation from RNA polymerase II promoterGO:000636710.1ERCC2, ERCC3, POLR2A
12DNA topological changeGO:000626510.1ERCC3, TOP1
13nucleotide-excision repair, DNA incisionGO:003368310.1ERCC2, ERCC3, ERCC5
14nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.1ERCC2, ERCC3, ERCC5
15nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.1ERCC2, ERCC3, ERCC5
16nucleotide-excision repair, preincision complex assemblyGO:000629410.1ERCC2, ERCC3, ERCC5
17nucleotide-excision repair, preincision complex stabilizationGO:000629310.1ERCC2, ERCC3, ERCC5
18UV protectionGO:000965010.0ERCC2, ERCC3, ERCC5
19response to oxidative stressGO:000697910.0ERCC2, ERCC3, ERCC6, ERCC8
20embryonic cleavageGO:00400169.9ERCC2, TOP1
21response to organic cyclic compoundGO:00140709.4IGFBP7, POLR2A, RAD51, STAT1
22response to UVGO:00094119.4ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, UVSSA
23DNA repairGO:00062819.1ENDOV, ERCC2, ERCC3, ERCC6, LIG1, RAD51
24transcription-coupled nucleotide-excision repairGO:00062838.5ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
25viral processGO:00160328.0ERCC2, ERCC3, STAT1, TOP1, USP7

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1DNA helicase activityGO:000367810.7ERCC6, ERCC8
2insulin-like growth factor bindingGO:000552010.4IGFBP5, IGFBP7
3endodeoxyribonuclease activityGO:000452010.2ERCC5, RAD51
4DNA-dependent ATPase activityGO:00080949.9ERCC2, ERCC3, ERCC6, ERCC8
5RNA polymerase II carboxy-terminal domain kinase activityGO:00083539.7ERCC2, ERCC3
6double-stranded DNA bindingGO:00036909.6ERCC5, RAD51, STAT1
7protein N-terminus bindingGO:00474859.4ERCC2, ERCC3, ERCC5, ERCC6
8protein C-terminus bindingGO:00080229.3ERCC2, ERCC3, ERCC6, RAD51, USP7
9chromatin bindingGO:00036829.3ERCC6, POLG, RAD51, TOP1
10DNA bindingGO:00036777.8ERCC2, ERCC3, ERCC6, LIG1, POLG, POLR2A

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