Uv-sensitive syndrome 1

Preferred Label : Uv-sensitive syndrome 1;

Symbol : UVSS1;

CISMeF acronym : UVSS1;

Type : Phenotype, molecular basis known;

Description : UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, 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 Horibata et al., 2004). - Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing group 8 gene (ERCC6, 609413.0009);

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

Prefixed ID : #600630;

Details

Origin ID

600630;

UMLS CUI

C3551173;

Automatic exact mappings (from CISMeF team)
- ERCC6 wt Allele [NCIt concept]
- UV-Sensitive syndrome [MeSH concept]
- UV-sensitive syndrome [ORDO Disease]
- Ultraviolet sensitive syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- UV-Sensitive Syndrome 1 [NCIt concept]
DO Cross reference
- UV-sensitive syndrome [DO Concept]
Genes related to phenotype
- Ercc excision repair 6, chromatin remodeling factor [OMIM gene]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- 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]
- Neoplasm [HPO term]
- Pigmentation anomalies of sun-exposed skin [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 1 [NCIt concept]
Validated automatic mappings to NTBT
- UV-Sensitive syndrome [MeSH Supplementary Concept]

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