Xeroderma Pigmentosum, Complementation Group C; Xpc

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 is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).

Genes related to Xeroderma Pigmentosum, Complementation Group C; Xpc

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Clinical Features

Top most frequent phenotypes and symptoms related to Xeroderma Pigmentosum, Complementation Group C; Xpc

Neoplasm
Hyperactivity
Photophobia
Carcinoma
Abnormality of the nervous system
Hypopigmentation of the skin
Cutaneous photosensitivity
Telangiectasia
Conjunctivitis
Neoplasm of the skin

And another 13 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, Complementation Group C; Xpc Is also known as xp, group c, xp3, xpcc, xeroderma pigmentosum iii.

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 C; Xpc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
XPC. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). XPC Specificity 100 % Genes 100 %
Xeroderma pigmentosum disease (sequence analysis of XPC gene). By CGC Genetics (Portugal). XPC Specificity 100 % 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 Panel complete gene list RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC, NSD1, SUFU, CDC73, DICER1, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, FANCL, FANCM, SLX4, FANCI, CYLD, SDHAF2, TMEM127, PALB2, DDB2, FLCN, DIS3L2, CEP57, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, AIP, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FH, GATA2, ALK, GPC3, APC, KIT, SMAD4, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, ATM, PMS2, PHOX2B, PRF1, PRKAR1A, BAP1, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET Specificity 2 % Genes 100 %
Xeroderma Pigmentosum via XPC Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). XPC 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 %

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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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