Uv-sensitive syndrome 2

Preferred Label : Uv-sensitive syndrome 2;

Symbol : UVSS2;

CISMeF acronym : UVSS2;

Type : Phenotype, molecular basis known;

Description : UV-sensitive syndrome-2 is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased 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 Nardo et al., 2009). See also Cockayne syndrome type A (CSA; 216400), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities. 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 excision-repair cross-complementing group 8 gene (ERCC8, 609412.0006);

Laboratory abnormalities : Cells show defective transcription-coupled nucleotide excision repair (TC-NER) after UV irradiation; Increased cellular sensitivity to UV light; No increased sensitivity to oxidative species;

Prefixed ID : #614621;

Details

Origin ID

614621;

UMLS CUI

C3553298;

Automatic exact mappings (from CISMeF team)
- ERCC8 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- UV-Sensitive Syndrome 2 [NCIt concept]
DO Cross reference
- UV-sensitive syndrome [DO Concept]
Genes related to phenotype
- Ercc excision repair 8, csa ubiquitin ligase complex subunit [OMIM gene]
HPO term(s)
- Abnormal circulating porphyrin concentration [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cutaneous photosensitivity [HPO term]
- Freckling [HPO term]
- Increased cellular sensitivity to UV light [HPO term]
- Infantile onset [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 2 [NCIt concept]

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