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 56 73 29 13 6 71
Uvss3 56 73
Uv-Sensitive Syndrome, Type 3 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
no predisposition to skin tumor development


HPO:

31
uv-sensitive syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 614640
OMIM Phenotypic Series 56 PS600630
MeSH 43 D052245
UMLS 71 C3553328

Summaries for Uv-Sensitive Syndrome 3

OMIM : 56 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 dry skin 31 HP:0000958
2 cutaneous photosensitivity 31 HP:0000992
3 freckling 31 HP:0001480
4 telangiectasia 31 HP:0001009
5 increased cellular sensitivity to uv light 31 HP:0003224

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
22466610 2012
2
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. 56 6
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. 6 56
19329487 2009
4
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. 6 56
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. 56 6
7513056 1994
6
Xeroderma pigmentosum complementation group E: a case report. 6 56
3774595 1986
7
Assignment of 2 patients with xeroderma pigmentosum to complementation group E. 6 56
3974603 1985
8
Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair. 56
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. 56
7539208 1995

Variations for Uv-Sensitive Syndrome 3

ClinVar genetic disease variations for Uv-Sensitive Syndrome 3:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UVSSA NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter)SNV Pathogenic 31569 rs387907163 4:1343580-1343580 4:1349792-1349792
2 UVSSA NM_020894.4(UVSSA):c.87del (p.Ile31fs)deletion Pathogenic 31570 4:1341966-1341966 4:1348178-1348178
3 UVSSA NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg)SNV Pathogenic 31571 rs387907164 4:1341973-1341973 4:1348185-1348185
4 UVSSA NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu)SNV Benign 802047 4:1374774-1374774 4:1380986-1380986

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

73
# 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 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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