MCID: UVS004
MIFTS: 18

Uv-Sensitive Syndrome 2 malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome 2

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Aliases & Descriptions for Uv-Sensitive Syndrome 2:

Name: Uv-Sensitive Syndrome 2 50 68 25 12 66
 
Uvss2 68

Characteristics:

HPO:

62
uv-sensitive syndrome 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 614621
MeSH37 D052245

Summaries for Uv-Sensitive Syndrome 2

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OMIM:50 UV-sensitive syndrome-2 is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased... (614621) more...

MalaCards based summary: Uv-Sensitive Syndrome 2, also known as uvss2, is related to uv-sensitive syndrome 1, and has symptoms including cutaneous photosensitivity, freckling and increased cellular sensitivity to uv light. An important gene associated with Uv-Sensitive Syndrome 2 is ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:68 UV-sensitive syndrome 2: An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors.

Related Diseases for Uv-Sensitive Syndrome 2

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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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1uv-sensitive syndrome 110.0

Symptoms for Uv-Sensitive Syndrome 2

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Symptoms by clinical synopsis from OMIM:

614621

Clinical features from OMIM:

614621

HPO human phenotypes related to Uv-Sensitive Syndrome 2:

id Description Frequency HPO Source Accession
1 cutaneous photosensitivity HP:0000992
2 freckling HP:0001480
3 increased cellular sensitivity to uv light HP:0003224

Drugs & Therapeutics for Uv-Sensitive Syndrome 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Uv-Sensitive Syndrome 2

Genetic Tests for Uv-Sensitive Syndrome 2

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Genetic tests related to Uv-Sensitive Syndrome 2:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 225

Anatomical Context for Uv-Sensitive Syndrome 2

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MalaCards organs/tissues related to Uv-Sensitive Syndrome 2:

34
Skin

Animal Models for Uv-Sensitive Syndrome 2 or affiliated genes

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Publications for Uv-Sensitive Syndrome 2

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Variations for Uv-Sensitive Syndrome 2

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UniProtKB/Swiss-Prot genetic disease variations for Uv-Sensitive Syndrome 2:

68
id Symbol AA change Variation ID SNP ID
1ERCC8p.Trp361CysVAR_068177rs281875221

Clinvar genetic disease variations for Uv-Sensitive Syndrome 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC8NM_000082.3(ERCC8): c.1083G> T (p.Trp361Cys)single nucleotide variantPathogenicrs281875221GRCh37Chr 5, 60183306: 60183306

Expression for genes affiliated with Uv-Sensitive Syndrome 2

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Search GEO for disease gene expression data for Uv-Sensitive Syndrome 2.

Pathways for genes affiliated with Uv-Sensitive Syndrome 2

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GO Terms for genes affiliated with Uv-Sensitive Syndrome 2

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Sources for Uv-Sensitive Syndrome 2

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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