Uv-Sensitive Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Uv-Sensitive Syndrome 3

MalaCards integrated aliases for Uv-Sensitive Syndrome 3:

Name: Uv-Sensitive Syndrome 3 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Uvss3 ⁵⁸ ⁷⁶

Uv-Sensitive Syndrome, Type 3 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
no predisposition to skin tumor development

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 614640

MeSH ⁴⁵ D052245

MedGen ⁴³ C3553328 CN124930

SNOMED-CT via HPO ⁷⁰ 112641009 16386004 247479008 more

UMLS ⁷⁴ C3553328

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Summaries for Uv-Sensitive Syndrome 3

OMIM : ⁵⁸ UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Itoh et al., 1994 and Nakazawa et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630). (614640)

MalaCards based summary : Uv-Sensitive Syndrome 3, is also known as uvss3, and has symptoms including dry skin An important gene associated with Uv-Sensitive Syndrome 3 is UVSSA (UV Stimulated Scaffold Protein A). Affiliated tissues include skin, and related phenotypes are dry skin and cutaneous photosensitivity

UniProtKB/Swiss-Prot : ⁷⁶ UV-sensitive syndrome 3: An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors.

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Related Diseases for Uv-Sensitive Syndrome 3

Diseases in the Uv-Sensitive Syndrome family:

Uv-Sensitive Syndrome 1	Uv-Sensitive Syndrome 2
Uv-Sensitive Syndrome 3

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Symptoms & Phenotypes for Uv-Sensitive Syndrome 3

Human phenotypes related to Uv-Sensitive Syndrome 3:

³³

#	Description	HPO Source Accession
1	dry skin ³³	HP:0000958
2	cutaneous photosensitivity ³³	HP:0000992
3	freckling ³³	HP:0001480
4	telangiectasia ³³	HP:0001009
5	increased cellular sensitivity to uv light ³³	HP:0003224

Symptoms via clinical synopsis from OMIM:

⁵⁸

Skin Nails Hair Skin:
dry skin
freckling
telangiectasia
photosensitivity

Laboratory Abnormalities:
increased cellular sensitivity to uv light
cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation

Clinical features from OMIM:

614640

UMLS symptoms related to Uv-Sensitive Syndrome 3:

dry skin

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Drugs & Therapeutics for Uv-Sensitive Syndrome 3

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

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Genetic Tests for Uv-Sensitive Syndrome 3

Genetic tests related to Uv-Sensitive Syndrome 3:

#	Genetic test	Affiliating Genes
1	Uv-Sensitive Syndrome 3 ³⁰	UVSSA

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Anatomical Context for Uv-Sensitive Syndrome 3

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

⁴²

Skin

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Publications for Uv-Sensitive Syndrome 3

Articles related to Uv-Sensitive Syndrome 3:

#	Title	Authors	Year
1	Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. ( 22466610 )	Nakazawa Y...Ogi T	2012
2	Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. ( 22466612 )	Zhang X...Tanaka K	2012
3	A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. ( 19329487 )	Nardo T...Stefanini M	2009
4	Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. ( 10771487 )	Itoh T...Yamaizumi M	2000
5	A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations. ( 7513056 )	Itoh T...Yamaizumi M	1994
6	Xeroderma pigmentosum complementation group E: a case report. ( 3774595 )	Kawada A...Fujiwara Y	1986
7	Assignment of 2 patients with xeroderma pigmentosum to complementation group E. ( 3974603 )	Fujiwara Y...Nishioka K	1985

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Genes for Uv-Sensitive Syndrome 3

Genes related to Uv-Sensitive Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	UVSSA	UV Stimulated Scaffold Protein A	Protein Coding	1338.06	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Summaries Variants (show sections)	22466610 7513056 3974603 (more) 10771487 19329487 22466612 3774595

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Variations for Uv-Sensitive Syndrome 3

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

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	UVSSA	p.Cys32Arg	VAR_067798	rs387907164

ClinVar genetic disease variations for Uv-Sensitive Syndrome 3:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	UVSSA	NM_020894.3(UVSSA): c.367A> T (p.Lys123Ter)	single nucleotide variant	Pathogenic	rs387907163	GRCh37	Chromosome 4, 1343580: 1343580
2	UVSSA	NM_020894.3(UVSSA): c.367A> T (p.Lys123Ter)	single nucleotide variant	Pathogenic	rs387907163	GRCh38	Chromosome 4, 1349792: 1349792
3	UVSSA	UVSSA, 1-BP DEL, 87G	deletion	Pathogenic
4	UVSSA	NM_020894.3(UVSSA): c.94T> C (p.Cys32Arg)	single nucleotide variant	Pathogenic	rs387907164	GRCh37	Chromosome 4, 1341973: 1341973
5	UVSSA	NM_020894.3(UVSSA): c.94T> C (p.Cys32Arg)	single nucleotide variant	Pathogenic	rs387907164	GRCh38	Chromosome 4, 1348185: 1348185

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Expression for Uv-Sensitive Syndrome 3

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

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Pathways for Uv-Sensitive Syndrome 3

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GO Terms for Uv-Sensitive Syndrome 3

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Uv-Sensitive Syndrome 3 (UVSS3)

Aliases & Classifications for Uv-Sensitive Syndrome 3

MalaCards integrated aliases for Uv-Sensitive Syndrome 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Uv-Sensitive Syndrome 3

Related Diseases for Uv-Sensitive Syndrome 3

Diseases in the Uv-Sensitive Syndrome family:

Symptoms & Phenotypes for Uv-Sensitive Syndrome 3

Human phenotypes related to Uv-Sensitive Syndrome 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Uv-Sensitive Syndrome 3:

Drugs & Therapeutics for Uv-Sensitive Syndrome 3

Genetic Tests for Uv-Sensitive Syndrome 3

Genetic tests related to Uv-Sensitive Syndrome 3:

Anatomical Context for Uv-Sensitive Syndrome 3

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

Publications for Uv-Sensitive Syndrome 3

Articles related to Uv-Sensitive Syndrome 3:

Genes for Uv-Sensitive Syndrome 3

Genes related to Uv-Sensitive Syndrome 3 (1 elite genes):

Variations for Uv-Sensitive Syndrome 3

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

ClinVar genetic disease variations for Uv-Sensitive Syndrome 3:

Expression for Uv-Sensitive Syndrome 3

Pathways for Uv-Sensitive Syndrome 3

GO Terms for Uv-Sensitive Syndrome 3

Sources for Uv-Sensitive Syndrome 3