MCID: UVS001
MIFTS: 35

Uv-Sensitive Syndrome malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Uv-Sensitive Syndrome

About this section

Aliases & Descriptions for Uv-Sensitive Syndrome:

Name: Uv-Sensitive Syndrome 10 23 12 51 65
Uv Sensitive Syndrome 45 24
 
Uvss 45 23
Ultraviolet Sensitive Syndrome 23


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
uv-sensitive syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Disease Ontology10 DOID:0060240
MeSH36 563466
Orphanet51 178338

Summaries for Uv-Sensitive Syndrome

About this section
Genetics Home Reference:23 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 3 and uv-sensitive syndrome 2. An important gene associated with Uv-Sensitive Syndrome is UVSSA (UV-Stimulated Scaffold Protein A), and among its related pathways are Nucleotide excision repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin and liver, and related mouse phenotypes are liver/biliary system and tumorigenesis.

Disease Ontology:10 An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).

Related Diseases for Uv-Sensitive Syndrome

About this section

Graphical network of diseases related to Uv-Sensitive Syndrome:



Diseases related to uv-sensitive syndrome

Symptoms for Uv-Sensitive Syndrome

About this section

Drugs & Therapeutics for Uv-Sensitive Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Uv-Sensitive Syndrome

Genetic Tests for Uv-Sensitive Syndrome

About this section

Genetic tests related to Uv-Sensitive Syndrome:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome24

Anatomical Context for Uv-Sensitive Syndrome

About this section

MalaCards organs/tissues related to Uv-Sensitive Syndrome:

33
Skin, Liver

Animal Models for Uv-Sensitive Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Uv-Sensitive Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4ERCC6, F9, FEN1, LIG1, POLR2A, STAT1
2MP:00020068.3ERCC6, ERCC8, FEN1, LIG1, POLG, POLR2A
3MP:00053787.8ERCC6, ERCC8, FEN1, IGFBP5, LIG1, POLG
4MP:00053877.3ERCC6, ERCC8, F9, FEN1, LIG1, POLG
5MP:00053977.1ERCC6, ERCC8, F9, FEN1, LIG1, POLG
6MP:00053767.1ERCC6, ERCC8, F9, FEN1, IGFBP5, LIG1
7MP:00107686.8ERCC6, ERCC8, F9, FEN1, LIG1, POLG

Publications for Uv-Sensitive Syndrome

About this section

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

About this section

Clinvar genetic disease variations for Uv-Sensitive Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter)single nucleotide variantPathogenicrs121917903GRCh37Chr 10, 50740782: 50740782
2UVSSANM_020894.2(UVSSA): c.367A> T (p.Lys123Ter)single nucleotide variantPathogenicrs387907163GRCh37Chr 4, 1343580: 1343580
3UVSSAUVSSA, 1-BP DEL, 87GdeletionPathogenic
4UVSSANM_020894.2(UVSSA): c.94T> C (p.Cys32Arg)single nucleotide variantPathogenicrs387907164GRCh37Chr 4, 1341973: 1341973

Expression for genes affiliated with Uv-Sensitive Syndrome

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

Pathways for genes affiliated with Uv-Sensitive Syndrome

About this section

GO Terms for genes affiliated with Uv-Sensitive Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:00057308.3ENDOV, ERCC6, FEN1, POLR2A, STAT1, TOP1
2nucleoplasmGO:00056547.7ERCC6, ERCC8, FEN1, LIG1, POLR2A, STAT1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1response to X-rayGO:001016510.4ERCC6, ERCC8
2response to gamma radiationGO:001033210.3ERCC6, POLG
3telomere maintenance via recombinationGO:000072210.1FEN1, LIG1
4DNA strand elongation involved in DNA replicationGO:000627110.1FEN1, LIG1
5telomere maintenance via semi-conservative replicationGO:003220110.0FEN1, LIG1
6base-excision repairGO:00062849.8ERCC6, FEN1, LIG1
7DNA biosynthetic processGO:00718979.8LIG1, POLG
8response to UVGO:00094119.7ERCC6, ERCC8, UVSSA
9nucleic acid phosphodiester bond hydrolysisGO:00903059.6ENDOV, FEN1, POLG
10DNA metabolic processGO:00062599.5LIG1, POLG
11transcription-coupled nucleotide-excision repairGO:00062839.3ERCC6, ERCC8, LIG1, POLR2A, USP7, UVSSA
12nucleotide-excision repairGO:00062899.2ERCC6, ERCC8, LIG1, POLR2A, USP7, UVSSA
13DNA replicationGO:00062609.0FEN1, LIG1, POLG, TOP1
14DNA repairGO:00062818.4ENDOV, ERCC6, ERCC8, FEN1, LIG1, POLR2A

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

idNameGO IDScoreTop Affiliating Genes
1exonuclease activityGO:000452710.3FEN1, POLG
2DNA-dependent ATPase activityGO:000809410.3ERCC6, ERCC8
3DNA helicase activityGO:000367810.2ERCC6, ERCC8
4insulin-like growth factor bindingGO:000552010.1IGFBP5, IGFBP7
5DNA bindingGO:00036778.0ERCC6, FEN1, LIG1, POLG, POLR2A, STAT1

Sources for Uv-Sensitive Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet