UVSS1
MCID: UVS005
MIFTS: 16

Uv-Sensitive Syndrome 1 (UVSS1) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome 1

Aliases & Descriptions for Uv-Sensitive Syndrome 1:

Name: Uv-Sensitive Syndrome 1 54 24 66 13 69
Uvss1 24 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 600630
MeSH 42 D052245

Summaries for Uv-Sensitive Syndrome 1

OMIM : 54 UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild... (600630) more...

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

UniProtKB/Swiss-Prot : 66 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 3 Uv-Sensitive Syndrome 2
Uv-Sensitive Syndrome 1

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

id Related Disease Score Top Affiliating Genes
1 uv-sensitive syndrome 3 10.8
2 uv-sensitive syndrome 2 10.8

Symptoms & Phenotypes for Uv-Sensitive Syndrome 1

Symptoms by clinical synopsis from OMIM:

600630

Clinical features from OMIM:

600630

Human phenotypes related to Uv-Sensitive Syndrome 1:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 dry skin 32 HP:0000958
2 neoplasm 32 HP:0002664
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

Genetic tests related to Uv-Sensitive Syndrome 1:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 1 24 ERCC6

Anatomical Context for Uv-Sensitive Syndrome 1

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

39
Skin

Publications for Uv-Sensitive Syndrome 1

Variations for Uv-Sensitive Syndrome 1

ClinVar genetic disease variations for Uv-Sensitive Syndrome 1:

6
id 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

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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