Xeroderma Pigmentosum Variant

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Xeroderma Pigmentosum Variant

POLH

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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

— 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 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.

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 Panel complete gene list RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL, CDC73, HAX1, DICER1, ARID5B, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEBPE, DDX41, DOCK8, SBDS, BRIP1, RHBDF2, COL7A1, G6PC3, CYLD, SDHAF2, PALB2, DDB2, FLCN, DIS3L2, DKC1, EGFR, ELANE, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2, FAH, FANCA, FANCC, FANCG, FH, GATA2, GBA, ABCB11, ALK, GJB2, GPC3, HFE, HMBS, HRAS, APC, ITK, KIT, SMAD4, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTAP, MUTYH, NBN, NF1, NF2, ATM, PAX5, PDGFRA, SERPINA1, AXIN2, PMS2, PHOX2B, POLD1, POLE, POLH, PRKAR1A, PRSS1, BAP1, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RB1, RECQL4, RET 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 %

You can get up to 15 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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