MCID: UVS001
MIFTS: 31

Uv-Sensitive Syndrome malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Uv-Sensitive Syndrome

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Uv-Sensitive Syndrome, Aliases & Descriptions:

Name: Uv-Sensitive Syndrome 9 41 21 47 60
Uv Sensitive Syndrome 41 22
 
Uvss 41 21
Ultraviolet Sensitive Syndrome 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
uv-sensitive syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:0060240
MeSH33 563466
Orphanet47 178338

Summaries for Uv-Sensitive Syndrome

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Genetics Home Reference:21 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 cockayne syndrome. An important gene associated with Uv-Sensitive Syndrome is UVSSA (UV-stimulated scaffold protein A), and among its related pathways are Chks in Checkpoint Regulation and Influenza A. Affiliated tissues include skin and liver, and related mouse phenotypes are tumorigenesis and integument.

Disease Ontology:9 An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).

Related Diseases for Uv-Sensitive Syndrome

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Diseases in the Uv-Sensitive Syndrome family:

Uv-Sensitive Syndrome 3 Uv-Sensitive Syndrome 2
Uv-Sensitive Syndrome 1

Diseases related to Uv-Sensitive Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1uv-sensitive syndrome 131.0ERCC6
2cockayne syndrome30.3ERCC8, ERCC6
3uv-sensitive syndrome 310.6
4uv-sensitive syndrome 210.5
5xeroderma pigmentosum, variant type10.0ERCC8, ERCC6

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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Drug clinical trials:

Search ClinicalTrials for Uv-Sensitive Syndrome

Search 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 Syndrome22

Anatomical Context for Uv-Sensitive Syndrome

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MalaCards organs/tissues related to Uv-Sensitive Syndrome:

31
Skin, Liver

Animal Models for Uv-Sensitive Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Uv-Sensitive Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9ERCC6, ERCC8, POLR2A
2MP:00107718.8ERCC6, ERCC8, POLR2A
3MP:00036318.0ERCC6, ERCC8, POLR2A, USP7
4MP:00053787.9USP7, POLR2A, ERCC8, ERCC6
5MP:00107687.7ERCC6, ERCC8, POLR2A, USP7

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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Clinvar genetic disease variations for Uv-Sensitive Syndrome:

6
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
5ERCC8NM_000082.3(ERCC8): c.1083G> T (p.Trp361Cys)single nucleotide variantPathogenicrs281875221GRCh37Chr 5, 60183306: 60183306

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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Compounds for genes affiliated with Uv-Sensitive Syndrome

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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
1nucleoplasmGO:00056548.5ERCC6, ERCC8, POLR2A
2nucleusGO:00056348.0ERCC6, ERCC8, POLR2A, USP7

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1response to X-rayGO:00101659.3ERCC6, ERCC8
2transcription from RNA polymerase II promoterGO:00063669.3ERCC6, POLR2A
3response to oxidative stressGO:00069799.0ERCC6, ERCC8
4response to UVGO:00094119.0ERCC6, ERCC8, UVSSA
5nucleotide-excision repairGO:00062898.9POLR2A, ERCC8, ERCC6
6DNA repairGO:00062818.7POLR2A, ERCC8, ERCC6
7transcription-coupled nucleotide-excision repairGO:00062837.7ERCC6, ERCC8, UVSSA, POLR2A, USP7

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

idNameGO IDScoreTop Affiliating Genes
1DNA helicase activityGO:00036789.4ERCC6, ERCC8
2DNA-dependent ATPase activityGO:00080949.4ERCC6, ERCC8
3protein complex bindingGO:00324039.3ERCC6, ERCC8
4ubiquitin protein ligase bindingGO:00316259.0POLR2A, USP7
5protein C-terminus bindingGO:00080228.7ERCC6, USP7
6protein bindingGO:00055157.5USP7, POLR2A, UVSSA, ERCC8, ERCC6

Products for genes affiliated with Uv-Sensitive Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Uv-Sensitive Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet