UVSS2
MCID: UVS004
MIFTS: 17

Uv-Sensitive Syndrome 2 (UVSS2) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome 2

About this section

Aliases & Descriptions for Uv-Sensitive Syndrome 2:

Name: Uv-Sensitive Syndrome 2 52 70 27 12 68
 
Uvss2 70

Characteristics:

HPO:

64
uv-sensitive syndrome 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 614621
MeSH39 D052245

Summaries for Uv-Sensitive Syndrome 2

About this section
OMIM:52 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:70 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

About this section

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 110.9

Symptoms & Phenotypes for Uv-Sensitive Syndrome 2

About this section

Symptoms by clinical synopsis from OMIM:

614621

Clinical features from OMIM:

614621

Human phenotypes related to Uv-Sensitive Syndrome 2:

 64
id Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity64 HP:0000992
2 freckling64 HP:0001480
3 increased cellular sensitivity to uv light64 HP:0003224

Drugs & Therapeutics for Uv-Sensitive Syndrome 2

About this section

Interventional clinical trials:

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

Genetic Tests for Uv-Sensitive Syndrome 2

About this section

Genetic tests related to Uv-Sensitive Syndrome 2:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 227

Anatomical Context for Uv-Sensitive Syndrome 2

About this section

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

36
Skin

Publications for Uv-Sensitive Syndrome 2

About this section

Variations for Uv-Sensitive Syndrome 2

About this section

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

70
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)SNVPathogenicrs281875221GRCh37Chr 5, 60183306: 60183306

Expression for genes affiliated with Uv-Sensitive Syndrome 2

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

Pathways for genes affiliated with Uv-Sensitive Syndrome 2

About this section

GO Terms for genes affiliated with Uv-Sensitive Syndrome 2

About this section

Sources for Uv-Sensitive Syndrome 2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet