Uv-sensitive Syndrome 3; Uvss3

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 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Uv-sensitive Syndrome 3; Uvss3

  • Neoplasm
  • Edema
  • Abnormality of the nervous system
  • Erythema
  • Dry skin
  • Cutaneous photosensitivity
  • Telangiectasia
  • Neoplasm of the skin
  • Freckling
  • Increased cellular sensitivity to UV light

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Uv-sensitive Syndrome 3; Uvss3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
UV-sensitive syndrome 3 (sequence analysis of UVSSA gene).

By CGC Genetics (Portugal).

UVSSA
Specificity
100 %
Genes
100 %
UV-sensitive syndrome 3.

By Centogene AG - the Rare Disease Company (Germany).

UVSSA
Specificity
100 %
Genes
100 %
UVSSA.

By Fulgent Genetics Fulgent Genetics (United States).

UVSSA
Specificity
100 %
Genes
100 %

You can get up to -5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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