UVSS3
MCID: UVS003
MIFTS: 18

Uv-Sensitive Syndrome 3 (UVSS3)

Categories: 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 58 76 30 13 6 74
Uvss3 58 76
Uv-Sensitive Syndrome, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
no predisposition to skin tumor development


HPO:

33
uv-sensitive syndrome 3:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Uv-Sensitive Syndrome 3

OMIM : 58 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 : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 dry skin 33 HP:0000958
2 cutaneous photosensitivity 33 HP:0000992
3 freckling 33 HP:0001480
4 telangiectasia 33 HP:0001009
5 increased cellular sensitivity to uv light 33 HP:0003224

Symptoms via clinical synopsis from OMIM:

58
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 30 UVSSA

Anatomical Context for Uv-Sensitive Syndrome 3

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

42
Skin

Publications for Uv-Sensitive Syndrome 3

Variations for Uv-Sensitive Syndrome 3

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

76
# Symbol AA change Variation ID SNP ID
1 UVSSA p.Cys32Arg VAR_067798 rs387907164

ClinVar genetic disease variations for Uv-Sensitive Syndrome 3:

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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