Xeroderma Pigmentosum Variant

Description

Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.

Clinical Features

Top most frequent phenotypes and symptoms related to Xeroderma Pigmentosum Variant

  • Microcephaly
  • Growth delay
  • Photophobia
  • Dry skin
  • Hypopigmentation of the skin
  • Cutaneous photosensitivity
  • Telangiectasia
  • Hyperpigmentation of the skin
  • Conjunctivitis
  • Melanoma

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Xeroderma Pigmentosum Variant Is also known as xeroderma pigmentosum with normal dna repair rates, photosensitivity with defective dna synthesis, xpv.

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.


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Xeroderma Pigmentosum Variant 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 %
Xeroderma pigmentosum variant type (sequence analysis of POLH gene).

By CGC Genetics (Portugal).

POLH
Specificity
100 %
Genes
100 %
Xeroderma Pigmentosum via POLH Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

POLH
Specificity
100 %
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 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 %
Xeroderma pigmentosum, variant type.

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

POLH
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV PALLISTER-HALL SYNDROME HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

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