UVSS1
MCID: UVS005
MIFTS: 18

Uv-Sensitive Syndrome 1 (UVSS1)

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

Aliases & Classifications for Uv-Sensitive Syndrome 1

MalaCards integrated aliases for Uv-Sensitive Syndrome 1:

Name: Uv-Sensitive Syndrome 1 57 75 13 73
Uvss1 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
no predisposition to skin tumor development
two unrelated japanese patients have been reported (last curated may 2012)


HPO:

32
uv-sensitive syndrome 1:
Onset and clinical course infantile onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Uv-Sensitive Syndrome 1

OMIM : 57 UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild 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 Horibata et al., 2004). (600630)

MalaCards based summary : Uv-Sensitive Syndrome 1, also known as uvss1, is related to uv-sensitive syndrome 2 and uv-sensitive syndrome 3, and has symptoms including dry skin An important gene associated with Uv-Sensitive Syndrome 1 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). Affiliated tissues include skin, and related phenotypes are neoplasm and dry skin

UniProtKB/Swiss-Prot : 75 UV-sensitive syndrome 1: 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 1

Diseases in the Uv-Sensitive Syndrome family:

Uv-Sensitive Syndrome 1 Uv-Sensitive Syndrome 2
Uv-Sensitive Syndrome 3

Diseases related to Uv-Sensitive Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 uv-sensitive syndrome 2 11.1
2 uv-sensitive syndrome 3 11.1

Symptoms & Phenotypes for Uv-Sensitive Syndrome 1

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:

600630

Human phenotypes related to Uv-Sensitive Syndrome 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 neoplasm 32 HP:0002664
2 dry skin 32 HP:0000958
3 cutaneous photosensitivity 32 HP:0000992
4 freckling 32 HP:0001480
5 telangiectasia 32 HP:0001009
6 increased cellular sensitivity to uv light 32 HP:0003224
7 pigmentation anomalies of sun-exposed skin 32 HP:0007623

UMLS symptoms related to Uv-Sensitive Syndrome 1:


dry skin

Drugs & Therapeutics for Uv-Sensitive Syndrome 1

Search Clinical Trials , NIH Clinical Center for Uv-Sensitive Syndrome 1

Genetic Tests for Uv-Sensitive Syndrome 1

Anatomical Context for Uv-Sensitive Syndrome 1

MalaCards organs/tissues related to Uv-Sensitive Syndrome 1:

41
Skin

Publications for Uv-Sensitive Syndrome 1

Variations for Uv-Sensitive Syndrome 1

ClinVar genetic disease variations for Uv-Sensitive Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh37 Chromosome 10, 50740782: 50740782
2 ERCC6 NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs121917903 GRCh38 Chromosome 10, 49532736: 49532736
3 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
4 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
5 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
6 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
7 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
8 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564

Expression for Uv-Sensitive Syndrome 1

Search GEO for disease gene expression data for Uv-Sensitive Syndrome 1.

Pathways for Uv-Sensitive Syndrome 1

GO Terms for Uv-Sensitive Syndrome 1

Sources for Uv-Sensitive Syndrome 1

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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