MCID: UVS001
MIFTS: 40

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Disease Ontology10 DOID:0060240
MeSH36 563466
Orphanet51 178338
UMLS65 C1833561

Summaries for Uv-Sensitive Syndrome

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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 Platinum Pathway, Pharmacokinetics/Pharmacodynamics and RNA Polymerase I Promoter Escape. 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

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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:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1uv-sensitive syndrome 312.9
2uv-sensitive syndrome 212.9
3uv-sensitive syndrome 112.9
4coenzyme q cytochrome c reductase deficiency of10.5ERCC6, ERCC8
5cockayne syndrome type ii10.4ERCC6, ERCC8
6cockayne syndrome type iii10.4ERCC6, ERCC8
7cerebrooculofacioskeletal syndrome 110.4ERCC6, ERCC8
8hyperammonemia due to n-acetylglutamate synthase deficiency10.3ERCC3, ERCC5
9xeroderma pigmentosum, group c10.2ERCC3, ERCC5, ERCC8
10cerebrooculofacioskeletal syndrome 310.2ERCC5, FEN1
11de sanctis-cacchione syndrome10.2ERCC2, ERCC5, ERCC6
12cerebrocostomandibular-like syndrome10.2ERCC2, ERCC5, ERCC6
13xeroderma pigmentosum, group b10.1ERCC2, ERCC3
14myocardial infarction10.1
15sleep apnea10.1
16obstructive sleep apnea10.1
17lymphoma10.1
18severe acute respiratory syndrome10.1
19myelitis10.1
20fibrosarcoma10.1
21inferior myocardial infarction10.1
22lung disease10.1
23heart tumor10.1
24mayer-rokitansky-kuster-hauser syndrome10.1
25nephrogenic systemic fibrosis10.1
26plasmablastic lymphoma10.1
27transverse myelitis10.1
28locked-in syndrome10.1ERCC2, RAD51
29qazi markouizos syndrome10.0ERCC2, ERCC3, ERCC5
30arthrogryposis, renal dysfunction, and cholestasis 110.0FEN1, LIG1, RAD51
31cerebrooculofacioskeletal syndrome 210.0ERCC2, ERCC3, ERCC5, ERCC6
32trichothiodystrophy 1, photosensitive10.0ERCC2, ERCC3
33anemia, hemolytic, rh-null, regulator type9.9ERCC2, ERCC3, ERCC5, ERCC6, ERCC8
34acrodermatitis enteropathica9.9DNAH8, ERCC2, ERCC3
35mental retardation, autosomal recessive 459.4ERCC2, FEN1, RAD51, STAT1, TOP1
36periarthritis9.4DNAH8, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8
37synpolydactyly6.5DNAH8, ENDOV, ERCC2, ERCC3, ERCC5, ERCC6

Graphical network of the top 20 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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Anatomical Context for Uv-Sensitive Syndrome

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MalaCards organs/tissues related to Uv-Sensitive Syndrome:

33
Skin, Liver

Animal Models for Uv-Sensitive Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Uv-Sensitive Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ERCC5, ERCC6, F9, FEN1, LIG1, STAT1
2MP:00020068.5ERCC2, ERCC3, ERCC6, ERCC8, FEN1, LIG1
3MP:00053798.3ERCC2, ERCC3, FEN1, IGFBP5, IGFBP7, LIG1
4MP:00107718.1ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, IGFBP7
5MP:00053847.7ERCC2, ERCC3, ERCC6, ERCC8, FEN1, IGFBP7
6MP:00053977.1ERCC2, ERCC5, ERCC6, ERCC8, F9, FEN1
7MP:00053786.7ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1
8MP:00107686.0ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, F9

Publications for Uv-Sensitive Syndrome

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Articles related to Uv-Sensitive Syndrome:

idTitleAuthorsYear
1
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. (26684045)
2016
2
Antibodies to the amino-terminal domain of desmoglein 1 are retained during transition from pemphigus vulgaris to pemphigus foliaceus. (24776707)
2014
3
Phenotypic and tumor molecular characterization of colorectal cancer in relation to a susceptibility SMAD7 variant associated with survival. (23104301)
2013
4
Hypoxic condition- and high cell density-induced expression of Redd1 is regulated by activation of hypoxia-inducible factor-1alpha and Sp1 through the phosphatidylinositol 3-kinase/Akt signaling pathway. (17307335)
2007
5
A comparison of the efficacy between two itraconazole generic products and the innovative itraconazole in the treatment of tinea pedis. (16623023)
2005
6
Novel localised variant of canine epidermolysis bullosa acquisita. (10718593)
2000
7
Diabetic Retinopathy (25905201)
2000
8
Percentile estimates for transferrin receptor in normal infants 9-15 mo of age. (9250113)
1997
9
Cell surface vitamin D-binding protein (GC-globulin) is acquired from plasma. (2226317)
1990
10
Acute seminal vesiculitis simulating appendicitis. (15425717)
1950

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
9.3ERCC2, ERCC3, FEN1, LIG1
4
Show member pathways
8.9ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
58.8LIG1, RAD51, STAT1, TOP1
6
Show member pathways
8.5ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, LIG1
7
Show member pathways
7.8ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1
8
Show member pathways
7.8ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, FEN1

GO Terms for genes affiliated with Uv-Sensitive Syndrome

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1transcription from RNA polymerase I promoterGO:000636010.3ERCC2, ERCC3
2nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.3ERCC3, ERCC5
3DNA topological changeGO:000626510.3ERCC3, TOP1
4termination of RNA polymerase I transcriptionGO:000636310.2ERCC2, ERCC3
5transcription elongation from RNA polymerase I promoterGO:000636210.2ERCC2, ERCC3
6response to UVGO:00094119.9ERCC2, ERCC3, ERCC6
7nucleotide-excision repair, preincision complex stabilizationGO:00062939.9ERCC2, ERCC3, ERCC5
8response to oxidative stressGO:00069799.9ERCC2, ERCC3, ERCC6
9nucleotide-excision repair, DNA duplex unwindingGO:00007179.9ERCC2, ERCC3
10nucleotide-excision repair, DNA incisionGO:00336839.8ERCC2, ERCC5
11UV protectionGO:00096509.8ERCC2, ERCC3, ERCC5, FEN1
12cellular response to DNA damage stimulusGO:00069749.8ERCC6, ERCC8, RAD51
13global genome nucleotide-excision repairGO:00709119.8ERCC2, ERCC3, LIG1
14nucleic acid phosphodiester bond hydrolysisGO:00903059.5ERCC5, FEN1, POLG
15transcription-coupled nucleotide-excision repairGO:00062839.4ERCC2, ERCC3, ERCC6, ERCC8, LIG1, UVSSA
16DNA repairGO:00062818.6ENDOV, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8

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

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:00080949.9ERCC2, ERCC3
2DNA bindingGO:00036779.4ERCC3, ERCC6, LIG1, RAD51

Sources for Uv-Sensitive Syndrome

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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