MCID: UVS005
MIFTS: 16

Uv-Sensitive Syndrome 1 malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uv-Sensitive Syndrome 1

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Aliases & Descriptions for Uv-Sensitive Syndrome 1:

Name: Uv-Sensitive Syndrome 1 51 69 12 67
 
Uvss1 69

Characteristics:

HPO:

63
uv-sensitive syndrome 1:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 600630
MeSH38 D052245

Summaries for Uv-Sensitive Syndrome 1

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OMIM:51 UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild... (600630) more...

MalaCards based summary: Uv-Sensitive Syndrome 1, also known as uvss1, is related to uv-sensitive syndrome 3 and uv-sensitive syndrome 2, and has symptoms including dry skin, cutaneous photosensitivity and telangiectasia. An important gene associated with Uv-Sensitive Syndrome 1 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:69 UV-sensitive syndrome 1: An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors.

Related Diseases for Uv-Sensitive Syndrome 1

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

idRelated DiseaseScoreTop Affiliating Genes
1uv-sensitive syndrome 310.8
2uv-sensitive syndrome 210.8

Symptoms for Uv-Sensitive Syndrome 1

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Symptoms by clinical synopsis from OMIM:

600630

Clinical features from OMIM:

600630

Human phenotypes related to Uv-Sensitive Syndrome 1:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 dry skin63 HP:0000958
2 cutaneous photosensitivity63 HP:0000992
3 telangiectasia63 HP:0001009
4 freckling63 HP:0001480
5 neoplasm63 HP:0002664
6 increased cellular sensitivity to uv light63 HP:0003224
7 pigmentation anomalies of sun-exposed skin63 HP:0007623

UMLS symptoms related to Uv-Sensitive Syndrome 1:


dry skin

Drugs & Therapeutics for Uv-Sensitive Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Uv-Sensitive Syndrome 1

Genetic Tests for Uv-Sensitive Syndrome 1

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Anatomical Context for Uv-Sensitive Syndrome 1

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MalaCards organs/tissues related to Uv-Sensitive Syndrome 1:

35
Skin

Animal Models for Uv-Sensitive Syndrome 1 or affiliated genes

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Publications for Uv-Sensitive Syndrome 1

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Variations for Uv-Sensitive Syndrome 1

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Clinvar genetic disease variations for Uv-Sensitive Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC6NM_000124.3(ERCC6): c.229C> T (p.Arg77Ter)SNVPathogenicrs121917903GRCh37Chr 10, 50740782: 50740782

Expression for genes affiliated with Uv-Sensitive Syndrome 1

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Search GEO for disease gene expression data for Uv-Sensitive Syndrome 1.

Pathways for genes affiliated with Uv-Sensitive Syndrome 1

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GO Terms for genes affiliated with Uv-Sensitive Syndrome 1

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Sources for Uv-Sensitive Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet