UVSS1
MCID: UVS005
MIFTS: 27

Uv-Sensitive Syndrome 1 (UVSS1)

Categories: Cancer diseases, 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 72 29 13 6 70
Uvss1 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
uv-sensitive syndrome 1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 600630
OMIM Phenotypic Series 57 PS600630
MeSH 44 D052245
UMLS 70 C3551173

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) (Updated 20-May-2021)

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 dry skin and neoplasm

UniProtKB/Swiss-Prot : 72 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 10.9
2 uv-sensitive syndrome 3 10.9
3 macular degeneration, age-related, 5 9.7 PGBD3 ERCC6
4 uv-sensitive syndrome 9.7 PGBD3 ERCC6
5 premature ovarian failure 11 9.7 PGBD3 ERCC6
6 de sanctis-cacchione syndrome 9.7 PGBD3 ERCC6
7 cerebrooculofacioskeletal syndrome 1 9.6 PGBD3 ERCC6
8 cockayne syndrome b 9.6 PGBD3 ERCC6
9 cockayne syndrome 9.5 PGBD3 ERCC6

Graphical network of the top 20 diseases related to Uv-Sensitive Syndrome 1:



Diseases related to Uv-Sensitive Syndrome 1

Symptoms & Phenotypes for Uv-Sensitive Syndrome 1

Human phenotypes related to Uv-Sensitive Syndrome 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dry skin 31 HP:0000958
2 neoplasm 31 HP:0002664
3 freckling 31 HP:0001480
4 cutaneous photosensitivity 31 HP:0000992
5 telangiectasia 31 HP:0001009
6 increased cellular sensitivity to uv light 31 HP:0003224
7 pigmentation anomalies of sun-exposed skin 31 HP:0007623

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Uv-Sensitive Syndrome 1:

# Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 1 29 ERCC6

Anatomical Context for Uv-Sensitive Syndrome 1

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

40
Skin

Publications for Uv-Sensitive Syndrome 1

Articles related to Uv-Sensitive Syndrome 1:

# Title Authors PMID Year
1
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 6 57
22466610 2012
2
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. 6 57
15486090 2004
3
Cockayne syndrome without typical clinical manifestations including neurologic abnormalities. 6 57
9777763 1998
4
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. 6 57
7264357 1981
5
The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. 6
22483866 2012
6
Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair. 57
8763445 1996
7
Transcription-related human disorders. 57
7762548 1995

Variations for Uv-Sensitive Syndrome 1

ClinVar genetic disease variations for Uv-Sensitive Syndrome 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC6 NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) SNV Pathogenic 430298 rs376526037 GRCh37: 10:50691550-50691550
GRCh38: 10:49483504-49483504
2 ERCC6 NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) SNV Pathogenic 1701 rs121917901 GRCh37: 10:50686483-50686483
GRCh38: 10:49478437-49478437
3 ERCC6 NM_000124.4(ERCC6):c.2830-2A>G SNV Pathogenic 190163 rs373227647 GRCh37: 10:50680518-50680518
GRCh38: 10:49472472-49472472
4 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) SNV Pathogenic 1703 rs121917902 GRCh37: 10:50732119-50732119
GRCh38: 10:49524073-49524073
5 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) SNV Pathogenic 1708 rs121917903 GRCh37: 10:50740782-50740782
GRCh38: 10:49532736-49532736
6 ERCC6 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) SNV Uncertain significance 190164 rs139007661 GRCh37: 10:50678884-50678884
GRCh38: 10:49470838-49470838
7 ERCC6 NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) SNV Uncertain significance 195555 rs574272317 GRCh37: 10:50667277-50667277
GRCh38: 10:49459231-49459231
8 ERCC6 NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) SNV Uncertain significance 190173 rs745352643 GRCh37: 10:50667157-50667157
GRCh38: 10:49459111-49459111
9 ERCC6 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) SNV Uncertain significance 190156 rs61760163 GRCh37: 10:50690906-50690906
GRCh38: 10:49482860-49482860
10 ERCC6 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) SNV Uncertain significance 190151 rs116373975 GRCh37: 10:50708610-50708610
GRCh38: 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

Cellular components related to Uv-Sensitive Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.62 PGBD3 ERCC6

Molecular functions related to Uv-Sensitive Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.62 PGBD3 ERCC6

Sources for Uv-Sensitive Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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