UVSS2
MCID: UVS004
MIFTS: 17

Uv-Sensitive Syndrome 2 (UVSS2)

Categories: 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 57 75 29 13 6 73
Uvss2 57 75
Uv-Sensitive Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 57 614621
MeSH 44 D052245
UMLS 73 C3553298

Summaries for Uv-Sensitive Syndrome 2

OMIM : 57 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. 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 : 75 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:

57
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

Human phenotypes related to Uv-Sensitive Syndrome 2:

32
# 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:

# 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:

41
Skin

Publications for Uv-Sensitive Syndrome 2

Variations for Uv-Sensitive Syndrome 2

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

75
# 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
2 ERCC8 NM_000082.3(ERCC8): c.1083G> T (p.Trp361Cys) single nucleotide variant Pathogenic rs281875221 GRCh38 Chromosome 5, 60887479: 60887479

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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