Xeroderma Pigmentosum, Complementation Group C; Xpc
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
- XPC
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.
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.
Accelerate your rare disease diagnosis with us
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
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 % |
Sources and references
You can check the following sources for additional information.
OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE GYRATE ATROPHY OF CHOROID AND RETINA; GACR DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4 KABUKI SYNDROME 1; KABUK1
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