MCID: UVS004
MIFTS: 17

Uv-Sensitive Syndrome 2 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 51 69 26 12 67
 
Uvss2 69

Characteristics:

HPO:

63
uv-sensitive syndrome 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 614621
MeSH38 D052245

Summaries for Uv-Sensitive Syndrome 2

About this section
OMIM:51 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:69 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 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:

 63
id Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity63 HP:0000992
2 freckling63 HP:0001480
3 increased cellular sensitivity to uv light63 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 226

Anatomical Context for Uv-Sensitive Syndrome 2

About this section

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

35
Skin

Animal Models for Uv-Sensitive Syndrome 2 or affiliated genes

About this section

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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet