UVSSA gene related symptoms and diseases

All the information presented here about the UVSSA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to UVSSA gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Abnormality of the nervous system Uncommon - Between 30% and 50% cases
Erythema Uncommon - Between 30% and 50% cases
Dry skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with UVSSA gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cutaneous photosensitivity
  • Telangiectasia
  • Neoplasm of the skin
  • Freckling
  • Increased cellular sensitivity to UV light
  • Pigmentation anomalies of sun-exposed skin
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Rare diseases associated to UVSSA gene

Here you will find a list of rare diseases related to the UVSSA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


UV-SENSITIVE SYNDROME



More info about UV-SENSITIVE SYNDROME

SOURCES: ORPHANET

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 ).

Most common symptoms of UV-SENSITIVE SYNDROME 3; UVSS3

  • Neoplasm
  • Edema
  • Abnormality of the nervous system
  • Erythema
  • Dry skin


More info about UV-SENSITIVE SYNDROME 3; UVSS3

SOURCES: OMIM


Potential gene panels for UVSSA gene

UV-sensitive syndrome 3 (sequence analysis of UVSSA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the UVSSA gene.

More info about this panel

UV-sensitive syndrome 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the UVSSA gene.

More info about this panel

UVSSA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UVSSA gene.

More info about this panel


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