MCID: UVS003
MIFTS: 18

Uv-Sensitive Syndrome 3 malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome 3

About this section

Aliases & Descriptions for Uv-Sensitive Syndrome 3:

Name: Uv-Sensitive Syndrome 3 50 23 68 25 12 66
 
Uvss3 23 68

Characteristics:

HPO:

62
uv-sensitive syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 614640
MeSH37 D052245

Summaries for Uv-Sensitive Syndrome 3

About this section
OMIM:50 UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight... (614640) more...

MalaCards based summary: Uv-Sensitive Syndrome 3, also known as uvss3, is related to uv-sensitive syndrome 1, and has symptoms including dry skin, dry skin and dry skin. An important gene associated with Uv-Sensitive Syndrome 3 is UVSSA (UV Stimulated Scaffold Protein A). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:68 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

About this section

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1uv-sensitive syndrome 110.0

Symptoms for Uv-Sensitive Syndrome 3

About this section

Symptoms by clinical synopsis from OMIM:

614640

Clinical features from OMIM:

614640

HPO human phenotypes related to Uv-Sensitive Syndrome 3:

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

UMLS symptoms related to Uv-Sensitive Syndrome 3:


dry skin

Drugs & Therapeutics for Uv-Sensitive Syndrome 3

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Uv-Sensitive Syndrome 3

Genetic Tests for Uv-Sensitive Syndrome 3

About this section

Genetic tests related to Uv-Sensitive Syndrome 3:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 325 23 UVSSA

Anatomical Context for Uv-Sensitive Syndrome 3

About this section

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

34
Skin

Animal Models for Uv-Sensitive Syndrome 3 or affiliated genes

About this section

Publications for Uv-Sensitive Syndrome 3

About this section

Variations for Uv-Sensitive Syndrome 3

About this section

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

68
id Symbol AA change Variation ID SNP ID
1UVSSAp.Cys32ArgVAR_067798rs387907164

Clinvar genetic disease variations for Uv-Sensitive Syndrome 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UVSSANM_020894.3(UVSSA): c.367A> T (p.Lys123Ter)single nucleotide variantPathogenicrs387907163GRCh37Chr 4, 1343580: 1343580
2UVSSAUVSSA, 1-BP DEL, 87GdeletionPathogenic
3UVSSANM_020894.3(UVSSA): c.94T> C (p.Cys32Arg)single nucleotide variantPathogenicrs387907164GRCh37Chr 4, 1341973: 1341973

Expression for genes affiliated with Uv-Sensitive Syndrome 3

About this section
Search GEO for disease gene expression data for Uv-Sensitive Syndrome 3.

Pathways for genes affiliated with Uv-Sensitive Syndrome 3

About this section

GO Terms for genes affiliated with Uv-Sensitive Syndrome 3

About this section

Sources for Uv-Sensitive Syndrome 3

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet