Xeroderma Pigmentosum, Complementation Group E

Description

An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.

Clinical Features

Top most frequent phenotypes and symptoms related to Xeroderma Pigmentosum, Complementation Group E

  • Photophobia
  • Abnormality of the nervous system
  • Cutaneous photosensitivity
  • Telangiectasia
  • Conjunctivitis
  • Melanoma
  • Dermal atrophy
  • Ectropion
  • Keratitis
  • Basal cell carcinoma

And another 4 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Xeroderma Pigmentosum, Complementation Group E Is also known as xp5, xp, group e, xeroderma pigmentosum v, xpe.

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.

Xeroderma Pigmentosum, Complementation Group E Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics (Portugal).

RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Xeroderma Pigmentosum Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH
Specificity
12 %
Genes
100 %
Xeroderma Pigmentosum via DDB2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DDB2
Specificity
100 %
Genes
100 %
Xeroderma pigmentosum Comprehensive panel.

By Connective Tissue Gene Tests (United States).

XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH
Specificity
12 %
Genes
100 %
Xeroderma pigmentosum NGS panel.

By Connective Tissue Gene Tests (United States).

XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH
Specificity
12 %
Genes
100 %
Xeroderma pigmentosum Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH
Specificity
12 %
Genes
100 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).

SF3B1, FOXL2, BRAF, TP53, TYRP1, XPC, CCND1, CDK4, CDK6, CDKN2A, CDKN2B, CTNNB1, DDB2, RICTOR, EGFR, EIF1AX, ERBB2, ERBB3, ERBB4, ERCC2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %

You can get up to 22 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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