MCID: UVS003
MIFTS: 17

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 52 24 70 27 12 68
 
Uvss3 24 70

Characteristics:

HPO:

64
uv-sensitive syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 614640
MeSH39 D052245

Summaries for Uv-Sensitive Syndrome 3

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OMIM:52 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:70 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 110.9

Symptoms & Phenotypes for Uv-Sensitive Syndrome 3

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Symptoms by clinical synopsis from OMIM:

614640

Clinical features from OMIM:

614640

Human phenotypes related to Uv-Sensitive Syndrome 3:

 64
id Description HPO Frequency HPO Source Accession
1 dry skin64 HP:0000958
2 cutaneous photosensitivity64 HP:0000992
3 telangiectasia64 HP:0001009
4 freckling64 HP:0001480
5 increased cellular sensitivity to uv light64 HP:0003224

UMLS symptoms related to Uv-Sensitive Syndrome 3:


dry skin

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 327 24 UVSSA

Anatomical Context for Uv-Sensitive Syndrome 3

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

36
Skin

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:

70
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)SNVPathogenicrs387907163GRCh37Chr 4, 1343580: 1343580
2UVSSAUVSSA, 1-BP DEL, 87GdeletionPathogenicChr na, -1: -1
3UVSSANM_020894.3(UVSSA): c.94T> C (p.Cys32Arg)SNVPathogenicrs387907164GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet