UVSS3
MCID: UVS003
MIFTS: 22

Uv-Sensitive Syndrome 3 (UVSS3)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome 3

MalaCards integrated aliases for Uv-Sensitive Syndrome 3:

Name: Uv-Sensitive Syndrome 3 57 74 29 13 6 72
Uvss3 57 74
Uv-Sensitive Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
no predisposition to skin tumor development


HPO:

32
uv-sensitive syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

MeSH 44 D052245
UMLS 72 C3553328

Summaries for Uv-Sensitive Syndrome 3

OMIM : 57 UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, 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 Itoh et al., 1994 and Nakazawa et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630). (614640)

MalaCards based summary : Uv-Sensitive Syndrome 3, is also known as uvss3, and has symptoms including dry skin An important gene associated with Uv-Sensitive Syndrome 3 is UVSSA (UV Stimulated Scaffold Protein A). Affiliated tissues include skin, and related phenotypes are dry skin and cutaneous photosensitivity

UniProtKB/Swiss-Prot : 74 UV-sensitive syndrome 3: An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors.

Related Diseases for Uv-Sensitive Syndrome 3

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 3

Human phenotypes related to Uv-Sensitive Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 dry skin 32 HP:0000958
2 cutaneous photosensitivity 32 HP:0000992
3 freckling 32 HP:0001480
4 telangiectasia 32 HP:0001009
5 increased cellular sensitivity to uv light 32 HP:0003224

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
dry skin
freckling
telangiectasia
photosensitivity

Laboratory Abnormalities:
increased cellular sensitivity to uv light
cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation

Clinical features from OMIM:

614640

UMLS symptoms related to Uv-Sensitive Syndrome 3:


dry skin

Drugs & Therapeutics for Uv-Sensitive Syndrome 3

Search Clinical Trials , NIH Clinical Center for Uv-Sensitive Syndrome 3

Genetic Tests for Uv-Sensitive Syndrome 3

Genetic tests related to Uv-Sensitive Syndrome 3:

# Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 3 29 UVSSA

Anatomical Context for Uv-Sensitive Syndrome 3

MalaCards organs/tissues related to Uv-Sensitive Syndrome 3:

41
Skin

Publications for Uv-Sensitive Syndrome 3

Articles related to Uv-Sensitive Syndrome 3:

# Title Authors PMID Year
1
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 8 71
22466610 2012
2
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. 8 71
22466612 2012
3
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. 8 71
19329487 2009
4
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. 8 71
10771487 2000
5
A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations. 8 71
7513056 1994
6
Xeroderma pigmentosum complementation group E: a case report. 8 71
3774595 1986
7
Assignment of 2 patients with xeroderma pigmentosum to complementation group E. 8 71
3974603 1985
8
Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair. 8
8763445 1996
9
UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I. 8
7539208 1995

Variations for Uv-Sensitive Syndrome 3

ClinVar genetic disease variations for Uv-Sensitive Syndrome 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 UVSSA NM_020894.4(UVSSA): c.367A> T (p.Lys123Ter) single nucleotide variant Pathogenic rs387907163 4:1343580-1343580 4:1349792-1349792
2 UVSSA UVSSA, 1-BP DEL, 87G deletion Pathogenic
3 UVSSA NM_020894.4(UVSSA): c.94T> C (p.Cys32Arg) single nucleotide variant Pathogenic rs387907164 4:1341973-1341973 4:1348185-1348185

UniProtKB/Swiss-Prot genetic disease variations for Uv-Sensitive Syndrome 3:

74
# Symbol AA change Variation ID SNP ID
1 UVSSA p.Cys32Arg VAR_067798 rs387907164

Expression for Uv-Sensitive Syndrome 3

Search GEO for disease gene expression data for Uv-Sensitive Syndrome 3.

Pathways for Uv-Sensitive Syndrome 3

GO Terms for Uv-Sensitive Syndrome 3

Sources for Uv-Sensitive Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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