MCID: UVS003
MIFTS: 18

Uv-Sensitive Syndrome 3 malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome 3

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Aliases & Descriptions for Uv-Sensitive Syndrome 3:

Name: Uv-Sensitive Syndrome 3 49 11 22 67 24 65
 
Uvss3 22 67

Characteristics:

HPO:

61
uv-sensitive syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM49 614640
MeSH36 D052245
UMLS65 C3553328

Summaries for Uv-Sensitive Syndrome 3

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OMIM:49 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, cutaneous photosensitivity and telangiectasia. An important gene associated with Uv-Sensitive Syndrome 3 is UVSSA (UV Stimulated Scaffold Protein A). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:67 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

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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 110.4

Symptoms for Uv-Sensitive Syndrome 3

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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

Drugs & Therapeutics for Uv-Sensitive Syndrome 3

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Interventional clinical trials:

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

Genetic Tests for Uv-Sensitive Syndrome 3

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Genetic tests related to Uv-Sensitive Syndrome 3:

id Genetic test Affiliating Genes
1 Uv-Sensitive Syndrome 322 UVSSA

Anatomical Context for Uv-Sensitive Syndrome 3

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

33
Skin

Animal Models for Uv-Sensitive Syndrome 3 or affiliated genes

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Publications for Uv-Sensitive Syndrome 3

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Variations for Uv-Sensitive Syndrome 3

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

67
id Symbol AA change Variation ID SNP ID
1UVSSAp.Cys32ArgVAR_067798

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

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

Pathways for genes affiliated with Uv-Sensitive Syndrome 3

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GO Terms for genes affiliated with Uv-Sensitive Syndrome 3

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Sources for Uv-Sensitive Syndrome 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet