Uv-sensitive Syndrome 2; Uvss2

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 ), 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 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Uv-sensitive Syndrome 2; Uvss2

  • Abnormality of the skeletal system
  • Erythema
  • Cutaneous photosensitivity
  • Neoplasm of the skin
  • Freckling
  • Increased cellular sensitivity to UV light

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

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Uv-sensitive Syndrome 2; Uvss2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ERCC8-Cockayne syndrome.

By Genetics Laboratory Shodair Children's Hospital (United States).

ERCC8
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BDNF, RPS6KA3, SCN1A, BRAF, SLC2A1, SLC6A4, SLC9A6, SMC1A, KDM5C, SOS1, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
ERCC8. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ERCC8
Specificity
100 %
Genes
100 %
Cockayne syndrome A (sequence analysis of ERCC8 gene).

By CGC Genetics (Portugal).

ERCC8
Specificity
100 %
Genes
100 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1
Specificity
9 %
Genes
100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1
Specificity
9 %
Genes
100 %

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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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