MCID: UVS001
MIFTS: 39

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 24 13 52 66
Uv Sensitive Syndrome 46 25
 
Uvss 46 24
Ultraviolet Sensitive Syndrome 24

Characteristics:

Orphanet epidemiological data:

52
uv-sensitive syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:0060240
MeSH37 563466
Orphanet52 ORPHA178338

Summaries for Uv-Sensitive Syndrome

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Genetics Home Reference:24 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 neoplasm and integument.

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 for Uv-Sensitive Syndrome

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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 Syndrome25

Anatomical Context for Uv-Sensitive Syndrome

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MalaCards organs/tissues related to Uv-Sensitive Syndrome:

34
Skin, Liver

Animal Models for Uv-Sensitive Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Uv-Sensitive Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020067.8ERCC2, ERCC3, ERCC6, ERCC8, LIG1, POLG
2MP:00107717.4ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, IGFBP7
3MP:00053797.2ERCC2, ERCC3, IGFBP5, IGFBP7, LIG1, POLG
4MP:00053847.1ERCC2, ERCC3, ERCC6, ERCC8, IGFBP7, LIG1
5MP:00053785.9ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, IGFBP5
6MP:00107685.6ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1

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:000567510.0ERCC2, ERCC3, ERCC5
3nucleolusGO:00057307.7ENDOV, 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
1hair cell differentiationGO:003531510.1ERCC2, ERCC3
2regulation of mitotic cell cycle phase transitionGO:190199010.1ERCC2, ERCC3
3transcription elongation from RNA polymerase I promoterGO:000636210.0ERCC2, ERCC3, ERCC6
4response to X-rayGO:001016510.0ERCC6, ERCC8, RAD51
5nucleotide-excision repair, DNA duplex unwindingGO:000071710.0ERCC2, ERCC3
6DNA topological changeGO:000626510.0ERCC3, TOP1
77-methylguanosine mRNA cappingGO:000637010.0ERCC2, ERCC3, POLR2A
8transcription elongation from RNA polymerase II promoterGO:000636810.0ERCC2, ERCC3, POLR2A
9transcription initiation from RNA polymerase II promoterGO:00063679.9ERCC2, ERCC3, POLR2A
10UV protectionGO:00096509.9ERCC2, ERCC3, ERCC5
11nucleotide-excision repairGO:00062899.8ERCC2, ERCC3, ERCC8
12DNA biosynthetic processGO:00718979.8LIG1, POLG
13nucleotide-excision repair, preincision complex assemblyGO:00062949.7ERCC2, ERCC3, ERCC5
14nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.7ERCC2, ERCC3, ERCC5
15nucleotide-excision repair, DNA incisionGO:00336839.7ERCC2, ERCC3, ERCC5
16nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.7ERCC2, ERCC3, ERCC5
17nucleotide-excision repair, preincision complex stabilizationGO:00062939.6ERCC2, ERCC3, ERCC5
18response to oxidative stressGO:00069799.5ERCC2, ERCC3, ERCC6, ERCC8
19DNA metabolic processGO:00062599.5LIG1, POLG
20embryonic cleavageGO:00400169.3ERCC2, TOP1
21response to UVGO:00094119.0ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, UVSSA
22response to organic cyclic compoundGO:00140708.9IGFBP7, POLR2A, RAD51, STAT1
23DNA repairGO:00062818.7ENDOV, ERCC2, ERCC3, ERCC6, LIG1, RAD51
24transcription-coupled nucleotide-excision repairGO:00062838.3ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
25viral processGO:00160328.2ERCC2, 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:000367810.4ERCC6, ERCC8
2insulin-like growth factor bindingGO:000552010.3IGFBP5, IGFBP7
3RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.3ERCC2, ERCC3
4endodeoxyribonuclease activityGO:00045209.7ERCC5, RAD51
5DNA-dependent ATPase activityGO:00080949.7ERCC2, ERCC3, ERCC6, ERCC8
6protein N-terminus bindingGO:00474859.6ERCC2, ERCC3, ERCC5, ERCC6
7double-stranded DNA bindingGO:00036909.3ERCC5, RAD51, STAT1
8protein C-terminus bindingGO:00080229.1ERCC2, ERCC3, ERCC6, RAD51, USP7
9chromatin bindingGO:00036828.4ERCC6, POLG, RAD51, TOP1
10DNA bindingGO:00036777.1ERCC2, ERCC3, ERCC6, LIG1, POLG, POLR2A

Sources for Uv-Sensitive Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet