UVSS2
MCID: UVS004
MIFTS: 19

Uv-Sensitive Syndrome 2 (UVSS2)

Categories: Cancer diseases, Genetic diseases, Neuronal 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 56 73 29 13 6 71
Uvss2 56 73
Uv-Sensitive Syndrome, Type 2 39

Characteristics:

OMIM:

56
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 56 614621
OMIM Phenotypic Series 56 PS600630
MeSH 43 D052245
UMLS 71 C3553298

Summaries for Uv-Sensitive Syndrome 2

OMIM : 56 UV-sensitive syndrome-2 (UVSS2) 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. An important gene associated with Uv-Sensitive Syndrome 2 is ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit). Affiliated tissues include skin, and related phenotypes are cutaneous photosensitivity and freckling

UniProtKB/Swiss-Prot : 73 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

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

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
freckling
photosensitivity

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

Clinical features from OMIM:

614621

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 29 ERCC8

Anatomical Context for Uv-Sensitive Syndrome 2

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

40
Skin

Publications for Uv-Sensitive Syndrome 2

Articles related to Uv-Sensitive Syndrome 2:

# Title Authors PMID Year
1
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. 6 56
19329487 2009

Variations for Uv-Sensitive Syndrome 2

ClinVar genetic disease variations for Uv-Sensitive Syndrome 2:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC8 NM_000082.3(ERCC8):c.1083G>T (p.Trp361Cys)SNV Pathogenic 68752 rs281875221 5:60183306-60183306 5:60887479-60887479
2 ERCC8 NM_000082.3(ERCC8):c.1042-2A>GSNV Pathogenic/Likely pathogenic 551594 rs372237310 5:60183349-60183349 5:60887522-60887522
3 ERCC8 NM_000082.3(ERCC8):c.1012G>A (p.Asp338Asn)SNV Uncertain significance 546240 rs141845482 5:60186745-60186745 5:60890918-60890918

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

73
# Symbol AA change Variation ID SNP ID
1 ERCC8 p.Trp361Cys VAR_068177 rs281875221

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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