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

Aliases & Descriptions for Uv-Sensitive Syndrome 2:

Name: Uv-Sensitive Syndrome 2 54 66 29 13 69
Uvss2 66

Characteristics:

HPO:

32
uv-sensitive syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 614621
MeSH 42 D052245

Summaries for Uv-Sensitive Syndrome 2

OMIM : 54 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 : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 uv-sensitive syndrome 1 10.9

Symptoms & Phenotypes for Uv-Sensitive Syndrome 2

Symptoms by clinical synopsis from OMIM:

614621

Clinical features from OMIM:

614621

Human phenotypes related to Uv-Sensitive Syndrome 2:

32
id Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity 32 HP:0000992
2 freckling 32 HP:0001480
3 increased cellular sensitivity to uv light 32 HP:0003224

Drugs & Therapeutics for Uv-Sensitive Syndrome 2

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

Genetic Tests for Uv-Sensitive Syndrome 2

Genetic tests related to Uv-Sensitive Syndrome 2:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 2 29

Anatomical Context for Uv-Sensitive Syndrome 2

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

39
Skin

Publications for Uv-Sensitive Syndrome 2

Variations for Uv-Sensitive Syndrome 2

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

66
id Symbol AA change Variation ID SNP ID
1 ERCC8 p.Trp361Cys VAR_068177 rs281875221

ClinVar genetic disease variations for Uv-Sensitive Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ERCC8 NM_000082.3(ERCC8): c.1083G> T (p.Trp361Cys) single nucleotide variant Pathogenic rs281875221 GRCh37 Chromosome 5, 60183306: 60183306

Expression for Uv-Sensitive Syndrome 2

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

Pathways for Uv-Sensitive Syndrome 2

GO Terms for Uv-Sensitive Syndrome 2

Sources for Uv-Sensitive Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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