XPC
MCID: XRD019
MIFTS: 49

Xeroderma Pigmentosum, Group C (XPC) malady

Eye, Skin, Fetal, Cancer categories

Summaries for Xeroderma Pigmentosum, Group C

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47OMIM, 33MalaCards
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MalaCards: Xeroderma Pigmentosum, Group C, also known as xeroderma pigmentosum, complementation group c, is related to xeroderma pigmentosum and cockayne syndrome. An important gene associated with Xeroderma Pigmentosum, Group C is XPC (xeroderma pigmentosum, complementation group C), and among its related pathways are DNA Damage Recognition in GG-NER and Apoptosis Modulation and Signaling. The compounds cpds and acnu have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and lung, and related mouse phenotypes are tumorigenesis and vision/eye.

Description from OMIM:47 278720

Aliases & Classifications for Xeroderma Pigmentosum, Group C

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Eye, Skin


Characteristics (Orphanet epidemiological data):

49
xeroderma pigmentosum complementation group c:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

xeroderma pigmentosum, group c 47
xeroderma pigmentosum, complementation group c 61
xeroderma pigmentosum complementation group c 49
xpc 49


External Ids:

OMIM47 278720
ICD10 via Orphanet26 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group C

Sources:
17GeneCards, 18GeneDecks
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Diseases in the xeroderma pigmentosum, group a family:

xeroderma pigmentosum, group b xeroderma pigmentosum, group c
xeroderma pigmentosum, group g xeroderma pigmentosum, group f
xeroderma pigmentosum, group d

Diseases related to Xeroderma Pigmentosum, Group C via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.8TP53, XPC, DDB2, RECQL, RAD23B, RAD23A
2cockayne syndrome30.8ERCC5, ERCC3, ERCC8, RAD23B, DDB2, XPC
3adenocarcinoma30.5XPC, CDKN2A, TP73, TP53
4squamous cell carcinoma30.4XPC, DDB2, CDKN2A, MC1R, MMP1, TP73
5colorectal cancer30.4CDKN2A, MMP1, TP73, TP53
6bladder carcinoma30.2TP53, CDKN2A
7adenoma30.1CDKN2A, TP73, TP53
8astrocytoma30.1TP53, TP73, CDKN2A, XPC
9li-fraumeni syndrome30.0TP53, CDKN2A
10basal cell carcinoma30.0MC1R, MMP1, TP53
11stomach cancer30.0CDKN2A, TP73, TP53
12squamous cell carcinoma of the head and neck30.0CDKN2A, MMP1, TP73, TP53
13xeroderma pigmentosum, group g11.2
14xeroderma pigmentosum, group d11.0
15xeroderma pigmentosum, group f10.9
16xeroderma pigmentosum, group a10.9
17xeroderma pigmentosum, group b10.8
18xeroderma pigmentosum, group g/cockayne syndrome10.6
19xpc-related xeroderma pigmentosum10.4
20testicular cancer10.3
21char syndrome10.3
22radiation induced cancer10.3
23mutagen sensitivity10.3
24barrett's adenocarcinoma10.2
25acoustic neuroma10.2
26esophageal squamous cell carcinoma10.2
27chronic myeloid leukemia10.1
28infertility10.1
29azoospermia10.1
30transitional cell carcinoma10.1
31bladder cancer susceptibility10.1
32breast cancer susceptibility10.1
33lung cancer susceptibility10.1
34ataxia telangiectasia10.0
35acute myeloid leukemia10.0
36sporadic breast cancer10.0
37neuronitis10.0
38gastric cardia adenocarcinoma10.0
39nasopharyngitis10.0
40tonsillitis10.0
41multiple cranial nerve palsy10.0
42diffuse large b-cell lymphoma10.0
43acute leukemia10.0
44thyroiditis10.0
45b-cell lymphomas10.0
46follicular lymphoma10.0
47oral squamous cell carcinoma10.0
48ataxia10.0
49hypoxia10.0
50multiple sclerosis10.0MC1R

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Group C:



Diseases related to xeroderma pigmentosum, group c

Clinical Features for Xeroderma Pigmentosum, Group C

Sources:
47OMIM
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Clinical features from OMIM:

278720

Clinical synopsis from OMIM:

278720

Drugs & Therapeutics for Xeroderma Pigmentosum, Group C

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Xeroderma Pigmentosum, Group C

Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Group C

Search NIH Clinical Center for Xeroderma Pigmentosum, Group C

Search CenterWatch for Xeroderma Pigmentosum, Group C

Genetic Tests for Xeroderma Pigmentosum, Group C

Anatomical Context for Xeroderma Pigmentosum, Group C

Sources:
33MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group C:

33
Brain, Liver, Lung, Breast, Skin, Prostate, T cells, B cells, Tongue

Animal Models for Xeroderma Pigmentosum, Group C or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Xeroderma Pigmentosum, Group C

Sources:
51PubMed
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Articles related to Xeroderma Pigmentosum, Group C:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
A nonsense mutation in the Xeroderma pigmentosum complementation group F (XPF) gene is associated with gastric carcinogenesis. (24412486)
2014
2
Genetic polymorphisms of xeroderma pigmentosum group D gene Asp312Asn and Lys751Gln and susceptibility to prostate cancer: a systematic review and meta-analysis. (23973729)
2013
3
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. (21782366)
2012
4
Clinicopathological significance and prognostic value of Xeroderma pigmentosum complementary group C (XPC) expression in sporadic breast cancer patients. (22038723)
2012
5
Poly(ADP-ribose) contributes to an association between poly(ADP-ribose) polymerase-1 and xeroderma pigmentosum complementation group A in nucleotide excision repair. (23038248)
2012
6
Effects of selected genetic polymorphisms in xeroderma pigmentosum complementary group D on gastric cancer. (20842450)
2011
7
Polymorphism in xeroderma pigmentosum complementation group C codon 939 and aflatoxin B1-related hepatocellular carcinoma in the Guangxi population. (20658464)
2010
8
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein. (19609301)
2009
9
The xeroderma pigmentosum group E gene product DDB2 activates nucleotide excision repair by regulating the level of p21Waf1/Cip1. (17967871)
2008
10
X-ray repair cross-complementing group 4 (XRCC4) promoter -1394( *)T-related genotype, but not XRCC4 codon 247/intron 3 or xeroderma pigmentosum group D codon 312, 751/promoter -114, polymorphisms are correlated with higher susceptibility to myoma. (18177646)
2008
11
Xeroderma pigmentosum complementation group C genotypes/diplotypes play no independent or interaction role with polycyclic aromatic hydrocarbons-DNA adducts for breast cancer risk. (18053706)
2008
12
Sunlight, skin cancer and vitamin D: What are the conclusions of recent findings that protection against solar ultraviolet (UV) radiation causes 25-hydroxyvitamin D deficiency in solid organ-transplant recipients, xeroderma pigmentosum, and other risk groups? (17204418)
2007
13
Importance of xeroderma pigmentosum group D polymorphisms in susceptibility to ovarian cancer. (16677755)
2007
14
Xeroderma pigmentosum group C gene expression is predominantly regulated by promoter hypermethylation and contributes to p53 mutation in lung cancers. (17325666)
2007
15
Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. (17897675)
2007
16
The xeroderma pigmentosum group C protein complex and ultraviolet-damaged DNA-binding protein: functional assays for damage recognition factors involved in global genome repair. (16793369)
2006
17
Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome. (16325378)
2006
18
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
19
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. (15626539)
2005
20
DDB2, the xeroderma pigmentosum group E gene product, is directly ubiquitylated by Cullin 4A-based ubiquitin ligase complex. (15811626)
2005
21
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. (15214909)
2004
22
Cloning and expression of xeroderma pigmentosum complementation group A cDNA and the identification of its recombinant protein. (12947563)
2003
23
A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene. (12893972)
2003
24
Xeroderma pigmentosum group C protein possesses a high affinity binding site to human centrin 2 and calmodulin. (12890685)
2003
25
Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. (12376498)
2002
26
Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer. (12396616)
2002
27
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. (11687625)
2001
28
The xeroderma pigmentosum group E gene product DDB2 is a specific target of cullin 4A in mammalian cells. (11564859)
2001
29
Carcinogen-induced inflammation and immunosuppression are enhanced in xeroderma pigmentosum group A model mice associated with hyperproduction of prostaglandin E2. (11313422)
2001
30
Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues. (11077043)
2000
31
Mechanism of promoter melting by the xeroderma pigmentosum complementation group B helicase of transcription factor IIH revealed by protein-DNA photo-cross-linking. (11027286)
2000
32
Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation. (10886156)
2000
33
Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. (10022922)
1999
34
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). (10340474)
1999
35
Complete restoration of normal DNA repair characteristics in group F xeroderma pigmentosum cells by over-expression of transfected XPF cDNA. (9472693)
1998
36
p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C. (9766670)
1998
37
p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. (9632823)
1998
38
Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C. (9415314)
1997
39
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree. (9447232)
1997
40
Preferential DNA damage in the p53 gene by benzo[a]pyrene metabolites in cytochrome P4501A1-expressing xeroderma pigmentosum group A cells. (8634092)
1996
41
Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype. (8566949)
1996
42
Characterization of the properties of a human homologue of Escherichia coli RecQ from xeroderma pigmentosum group C and from HeLa cells. (8790942)
1996
43
Correlation of the clinical manifestations and gene mutations of Japanese xeroderma pigmentosum group A patients. (7577588)
1995
44
Repair in ribosomal RNA genes is deficient in xeroderma pigmentosum group C and in Cockayne's syndrome cells. (7512688)
1994
45
DNA repair defect in xeroderma pigmentosum group C and complementing factor from HeLa cells. (8077226)
1994
46
A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q. (7829076)
1994
47
Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. (1522891)
1992
48
Two types of proliferating cell nuclear antigen (PCNA) complex formation in quiescent normal and xeroderma pigmentosum group A fibroblasts following ultraviolet light (uv) irradiation. (1353458)
1992
49
Restoration of proliferating cell nuclear antigen (PCNA) complex formation in xeroderma pigmentosum group A cells following cis-diamminedichloroplatinum (II)-treatment by cell fusion with normal cells. (1354671)
1992
50
An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors. (3029584)
1987

Genetic Variations for Xeroderma Pigmentosum, Group C

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Xeroderma Pigmentosum, Group C:

63
id Symbol AA change Variation SNP ID
1XPCp.Pro334HisVAR_005846rs74737358
2XPCp.Trp690SerVAR_064039

Expression for genes affiliated with Xeroderma Pigmentosum, Group C

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group C

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Group C.

Pathways for genes affiliated with Xeroderma Pigmentosum, Group C

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore, 50PharmGKB, 30KEGG, 4Cell Signaling Technology
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Pathways related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1RAD23B, XPC
2
Hide members
9.8TP53, TP73
39.7TP53, CDKN2A
4
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
9.6XPC, DDB2, TP53
59.5TP53, TP73, DDB2
6
Hide members
9.4GTF2H1, ERCC5, ERCC3, ERCC8
79.4CDKN2A, TP73, TP53
8
Hide members
9.3XPC, RAD23B, ERCC3, ERCC5, GTF2H1
99.2TP53, TDG
109.2UVRAG, CDKN2A, TP53
11
Hide members
9.2TP53, TP73, CDKN2A, DDB2
12
Transcription P53 signaling pathway
Hide members
8.2XPC, CDKN2A, ERCC3, GTF2H1, TDG, TP53
13
Hide members
8.2XPC, DDB2, UVRAG, CDKN2A, RECQL, ERCC3
14
Hide members
8.0XPC, DDB2, RAD23B, ERCC8, ERCC3, ERCC5
15
Hide members
7.7CETN2, XPC, DDB2, RAD23B, RAD23A, ERCC8

Compounds for genes affiliated with Xeroderma Pigmentosum, Group C

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 24HMDB, 29IUPHAR
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Compounds related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1cpds4510.3DDB2, ERCC3
2acnu459.9TP53, CDKN2A
3hpvs459.7TP53, CDKN2A
4o6-methylguanine459.7TP53, TP73, CDKN2A
5tetracycline45 1110.6TP73, MMP1, CDKN2A
6paraffin459.6TP73, MMP1
7vincristine45 50 1111.5TP53, TP73, CDKN2A
8camptothecin45 60 1111.4TP53, TP73, CDKN2A
9adriamycin459.3CDKN2A, TP73, TP53
10doxorubicin45 50 1111.2CDKN2A, MMP1, TP73, TP53
115-methylcytosine45 2410.2CDKN2A, TDG, TP53
12progesterone45 60 29 11 2412.9CDKN2A, MMP1, ABCA1, TP73, TP53
13proline458.8TP53, TP73, RAD23A, RAD23B, ABCA1
145fluorouracil458.8TP53, TP73, TDG, CDKN2A
15cisplatin45 50 60 1111.8TP53, XPC, DDB2, CDKN2A, ERCC3, ERCC5
16oligonucleotide458.6XPC, CDKN2A, MMP1, ABCA1, ERCC5, TP73
17atp45 299.0XPC, CDKN2A, RECQL, ABCA1, ERCC3, ERCC5

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group C

Sources:
16Gene Ontology
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Cellular components related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:0056759.6GTF2H1, ERCC5, ERCC3
2XPC complexGO:0719429.5XPC, RAD23B, CETN2
3protein complexGO:0432348.4DDB2, UVRAG, CDKN2A, ERCC8, TP53
4nucleoplasmGO:0056547.3TP53, XPC, DDB2, CDKN2A, RAD23B, ERCC8
5nucleusGO:0056346.2CDKN2A, RECQL, RAD23B, RAD23A, ERCC8, ERCC3

Biological processes related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA damage recognitionGO:00071510.3RAD23B, XPC
2regulation of mitotic cell cycle phase transitionGO:190199010.3XPC, ERCC3
3UV protectionGO:00965010.0ERCC5, ERCC3, MC1R
4transcription elongation from RNA polymerase I promoterGO:00636210.0GTF2H1, ERCC3
5mitotic G1 DNA damage checkpointGO:0315719.9TP73, TP53
6DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.9TP53, TP73
7regulation of proteasomal ubiquitin-dependent protein catabolic processGO:0324349.9RAD23A, RAD23B
8replicative senescenceGO:0903999.8TP53, CDKN2A
9response to UVGO:0094119.8DDB2, ERCC8, ERCC3, ERCC5
10response to X-rayGO:0101659.8ERCC8, TP73, TP53
11DNA strand renaturationGO:0007339.7TP53, RECQL
12transcription-coupled nucleotide-excision repairGO:0062839.7ERCC8, ERCC3, ERCC5, GTF2H1
13protein polyubiquitinationGO:0002099.6DDB2, CDKN2A, ERCC8
14proteasomal ubiquitin-dependent protein catabolic processGO:0431619.6ERCC8, RAD23A, RAD23B
15positive regulation of cell cycle arrestGO:0711589.6TP53, CDKN2A
16nucleotide-excision repair, DNA damage removalGO:0007189.4XPC, DDB2, RAD23B, ERCC3, ERCC5, GTF2H1
17cell cycle arrestGO:0070509.1TP53, TP73, CDKN2A
18modulation by virus of host morphology or physiologyGO:0190488.9MMP1, RAD23A, ERCC3, TP53
19positive regulation of transcription from RNA polymerase II promoterGO:0459448.9CDKN2A, MC1R, ERCC3, GTF2H1, TP73, TP53
20nucleotide-excision repairGO:0062897.6TP53, XPC, DDB2, RAD23B, RAD23A, ERCC8
21DNA repairGO:0062817.3XPC, DDB2, UVRAG, RECQL, RAD23B, ERCC8

Molecular functions related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:00040510.1ERCC5, XPC
2DNA-dependent ATPase activityGO:0080949.9GTF2H1, ERCC3, ERCC8
3MDM2/MDM4 family protein bindingGO:0973719.8TP53, CDKN2A
4RNA polymerase II carboxy-terminal domain kinase activityGO:0083539.7GTF2H1, ERCC3
5DNA helicase activityGO:0036789.7ERCC8, RECQL
6p53 bindingGO:0020399.6CDKN2A, TP73, TP53
7protein N-terminus bindingGO:0474859.6TP53, ERCC5, ERCC3
8single-stranded DNA bindingGO:0036979.4XPC, RAD23B, RAD23A, ERCC5
9transcription factor bindingGO:0081349.2CDKN2A, ERCC3, TP73, TP53
10double-stranded DNA bindingGO:0036909.0ERCC5, TDG, TP73
11damaged DNA bindingGO:0036847.7TP53, XPC, DDB2, RAD23B, RAD23A, ERCC3
12protein bindingGO:0055154.4ABCA1, RECQL, MC1R, CDKN2A, UVRAG, DDB2

Products for genes affiliated with Xeroderma Pigmentosum, Group C

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Sources for Xeroderma Pigmentosum, Group C

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet