MCID: UVS004
MIFTS: 16

Uv-Sensitive Syndrome 2

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome 2

MalaCards integrated aliases for Uv-Sensitive Syndrome 2:

Name: Uv-Sensitive Syndrome 2 53 71 28 13 69
Uvss2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
no predisposition to skin tumor development
one patient has been reported (last curated may 2012)


HPO:

31
uv-sensitive syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 53 614621
MeSH 41 D052245
UMLS 69 C3553298

Summaries for Uv-Sensitive Syndrome 2

OMIM : 53 UV-sensitive syndrome-2 is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Nardo et al., 2009). See also Cockayne syndrome type A (CSA; 216400), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities. For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630). (614621)

MalaCards based summary : Uv-Sensitive Syndrome 2, is also known as uvss2, 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 : 71 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 1 Uv-Sensitive Syndrome 2
Uv-Sensitive Syndrome 3

Symptoms & Phenotypes for Uv-Sensitive Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
photosensitivity
freckling

Laboratory Abnormalities:
cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation
increased cellular sensitivity to uv light
no increased sensitivity to oxidative species


Clinical features from OMIM:

614621

Human phenotypes related to Uv-Sensitive Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity 31 HP:0000992
2 freckling 31 HP:0001480
3 increased cellular sensitivity to uv light 31 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:

# Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 2 28 ERCC8

Anatomical Context for Uv-Sensitive Syndrome 2

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

38
Skin

Publications for Uv-Sensitive Syndrome 2

Variations for Uv-Sensitive Syndrome 2

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

71
# Symbol AA change Variation ID SNP ID
1 ERCC8 p.Trp361Cys VAR_068177 rs281875221

ClinVar genetic disease variations for Uv-Sensitive Syndrome 2:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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