MCID: UVS003
MIFTS: 17

Uv-Sensitive Syndrome 3 malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Uv-Sensitive Syndrome 3

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OMIM:47 UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight... (614640) more...

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

Aliases & Classifications for Uv-Sensitive Syndrome 3

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Uv-Sensitive Syndrome 3, Aliases & Descriptions:

Name: Uv-Sensitive Syndrome 3 47 11 22 24 62


Classifications:

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


External Ids:

OMIM47 614640

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

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 322 24 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:

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

Clinvar genetic disease variations for Uv-Sensitive Syndrome 3:

7
id Gene Variation 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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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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Uv-Sensitive Syndrome 3

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet