MCID: UVS003
MIFTS: 13

Uv-Sensitive Syndrome 3 malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Uv-Sensitive Syndrome 3

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MalaCards based summary: Uv-Sensitive Syndrome 3 and has symptoms including An important gene associated with Uv-Sensitive Syndrome 3 is UVSSA (UV-stimulated scaffold protein A). Affiliated tissues include skin.

Description from OMIM:46 614640

Aliases & Classifications for Uv-Sensitive Syndrome 3

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Uv-Sensitive Syndrome 3, Aliases & Descriptions:

Name: Uv-Sensitive Syndrome 3 20 22 46 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


Related Diseases for Uv-Sensitive Syndrome 3

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Diseases in the Uv-Sensitive Syndrome 1 family:

Uv Sensitive Syndrome uv-sensitive syndrome 3
Uv-Sensitive Syndrome 2

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:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 dry skin HP:0000958
3 cutaneous photosensitivity HP:0000992
4 telangiectasia HP:0001009
5 freckling HP:0001480
6 increased cellular sensitivity to uv light HP:0003224
7 infantile onset HP:0003593

Drugs & Therapeutics for Uv-Sensitive Syndrome 3

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Drug clinical trials:

Search ClinicalTrials for Uv-Sensitive Syndrome 3

Search 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 320 22 UVSSA

Anatomical Context for Uv-Sensitive Syndrome 3

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

32
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:

64
id Symbol AA change Variation ID SNP ID
1UVSSAp.Cys32ArgVAR_067798

Clinvar genetic disease variations for Uv-Sensitive Syndrome 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1UVSSANM_020894.2(UVSSA): c.367A> T (p.Lys123Ter)single nucleotide variantPathogenicrs387907163GRCh37Chr 4, 1343580: 1343580
2UVSSAUVSSA, 1-BP DEL, 87GdeletionPathogenic
3UVSSANM_020894.2(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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Expression patterns in normal tissues for genes affiliated with Uv-Sensitive Syndrome 3

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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Compounds 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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Products for genes affiliated with Uv-Sensitive Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Uv-Sensitive Syndrome 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet