Uv-sensitive syndrome 3

Preferred Label : Uv-sensitive syndrome 3;

Symbol : UVSS3;

CISMeF acronym : UVSS3;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the UV-stimulated scaffold protein A gene (UVSSA, 614632.0001);

Laboratory abnormalities : Cells show defective transcription-coupled nucleotide excision repair (TC-NER) after UV irradiation; Increased cellular sensitivity to UV light;

Prefixed ID : #614640;

Details

Origin ID

614640;

UMLS CUI

C3553328;

Automatic exact mappings (from CISMeF team)
- UV-Sensitive Syndrome 3 [NCIt concept]
- UVSSA wt Allele [NCIt concept]
DO Cross reference
- UV-sensitive syndrome [DO Concept]
Genes related to phenotype
- Uv-stimulated scaffold protein a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cutaneous photosensitivity [HPO term]
- Dry skin [HPO term]
- Freckling [HPO term]
- Increased cellular sensitivity to UV light [HPO term]
- Infantile onset [HPO term]
- Telangiectasia [HPO term]
ORDO concept(s)
- UV-sensitive syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- UV-Sensitive Syndrome 3 [NCIt concept]

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