XPC
MCID: XRD019
MIFTS: 45

Xeroderma Pigmentosum, Group C (XPC) malady

Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Xeroderma Pigmentosum, Group C

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46OMIM, 32MalaCards
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MalaCards: Xeroderma Pigmentosum, Group C, also known as xeroderma pigmentosum, complementation group c, is related to xeroderma pigmentosum and melanoma. 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 skin, and related mouse phenotypes are tumorigenesis and vision/eye.

Description from OMIM:46 278720

Aliases & Classifications for Xeroderma Pigmentosum, Group C

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46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
xeroderma pigmentosum complementation group c:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

xeroderma pigmentosum, group c 46
xeroderma pigmentosum, complementation group c 60
xeroderma pigmentosum complementation group c 48
xpc 48


External Ids:

SNOMED-CT via Orphanet57 25784009
OMIM46 278720
ICD10 via Orphanet26 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group C

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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 108)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.7DDB2, XPC, TP53, CETN2, ERCC3, ERCC5
2melanoma30.8XPC, CDKN2A, MC1R, ERCC5, TP53, TP73
3cockayne syndrome30.7XPC, RAD23B, ERCC8, ERCC3, ERCC5, DDB2
4lung cancer30.6ERCC5, TP53, ERCC3, DDB2, TDG, CDKN2A
5ovarian cancer30.6ERCC3, CDKN2A, TP73, TP53
6hepatocellular carcinoma30.5CDKN2A, XPC, TP53, TP73, ABCA1
7breast cancer30.5MMP1, XPC, DDB2, CDKN2A, TP53, TP73
8adenocarcinoma30.4TP73, CDKN2A, XPC, TP53
9squamous cell carcinoma30.4CDKN2A, MC1R, MMP1, TP53, DDB2, XPC
10colorectal cancer30.3CDKN2A, TP53, MMP1, TP73
11leukemia30.2ERCC3, CDKN2A, TP53, TP73
12myeloid leukemia30.2TP73
13bladder carcinoma30.2CDKN2A, TP53
14prostate cancer30.2TP53, TP73, ABCA1, ERCC5, MC1R, XPC
15malignant glioma30.1CDKN2A, TP53
16pancreatic cancer30.1CDKN2A, TP53
17adenoma30.1TP53, CDKN2A, TP73
18astrocytoma30.1CDKN2A, TP53, TP73, XPC
19multiple sclerosis30.0MC1R
20meningioma30.0TP73
21li-fraumeni syndrome29.9CDKN2A, TP53
22basal cell carcinoma29.9TP53, MMP1, MC1R
23stomach cancer29.9TP73, TP53, CDKN2A
24esophageal cancer29.9CDKN2A, MMP1, TP73, TP53
25squamous cell carcinoma of the head and neck29.9TP73, TP53, CDKN2A, MMP1
26osteosarcoma29.9TP53, TP73, MMP1, CDKN2A
27laryngeal squamous cell carcinoma29.9MMP1, CDKN2A, TP53, TP73
28multiple myeloma29.7CDKN2A, TP53
29xpc-related xeroderma pigmentosum10.4
30nasopharyngitis10.3
31lung adenocarcinoma10.3
32testicular cancer10.3
33prostatitis10.2
34mutagen sensitivity10.2
35xeroderma pigmentosum, group a10.2
36barrett's adenocarcinoma10.1
37acoustic neuroma10.1
38esophagitis10.1
39neuroma10.1
40radiation induced cancer10.1
41xeroderma pigmentosum, group d10.1
42chronic myeloid leukemia10.1
43infertility10.1
44azoospermia10.1
45cervical cancer10.1
46cervicitis10.1
47gastric adenocarcinoma10.1
48laryngitis10.1
49lymphoblastic leukemia10.1
50male infertility10.1

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

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46OMIM
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Clinical features from OMIM:

278720

Clinical synopsis from OMIM:

278720

Drugs & Therapeutics for Xeroderma Pigmentosum, Group C

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Xeroderma Pigmentosum, Group C

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32MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group C:

32
Skin

Animal Models for Xeroderma Pigmentosum, Group C or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group C:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.7CDKN2A, MC1R, TP73
2MP:00053918.7TP53, TP73, ERCC8, RAD23B, CDKN2A, XPC
3MP:00107718.6XPC, DDB2, CDKN2A, MC1R, ERCC8, ERCC3
4MP:00053818.3CDKN2A, ABCA1, RAD23B, ERCC5, TP73, TP53
5MP:00053828.2MC1R, RAD23B, ERCC3, TDG, TP73, TP53
6MP:00053767.7XPC, ABCA1, RAD23B, RAD23A, ERCC8, ERCC5
7MP:00053786.7XPC, DDB2, CDKN2A, MC1R, ABCA1, RAD23B
8MP:00107686.2XPC, DDB2, CDKN2A, ABCA1, RAD23B, RAD23A
9MP:00053845.9TP53, XPC, DDB2, CDKN2A, MC1R, RECQL

Publications for Xeroderma Pigmentosum, Group C

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Genetic Variations for Xeroderma Pigmentosum, Group C

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Xeroderma Pigmentosum, Group C:

62
id Symbol AA change Variation ID SNP ID
1XPCp.Pro334HisVAR_005846rs74737358
2XPCp.Trp690SerVAR_064039

Expression for genes affiliated with Xeroderma Pigmentosum, Group C

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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 49PharmGKB, 29KEGG, 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
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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

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 24HMDB, 28IUPHAR
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Compounds related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1cpds4410.3DDB2, ERCC3
2acnu449.9TP53, CDKN2A
3hpvs449.7TP53, CDKN2A
4o6-methylguanine449.7TP53, TP73, CDKN2A
5tetracycline44 1110.6TP73, MMP1, CDKN2A
6paraffin449.6TP73, MMP1
7vincristine44 49 1111.5TP53, TP73, CDKN2A
8camptothecin44 59 1111.4TP53, TP73, CDKN2A
9adriamycin449.3CDKN2A, TP73, TP53
10doxorubicin44 49 1111.2CDKN2A, MMP1, TP73, TP53
115-methylcytosine44 2410.2CDKN2A, TDG, TP53
12progesterone44 59 28 11 2412.9CDKN2A, MMP1, ABCA1, TP73, TP53
13proline448.8TP53, TP73, RAD23A, RAD23B, ABCA1
145fluorouracil448.8TP53, TP73, TDG, CDKN2A
15cisplatin44 49 59 1111.8TP53, XPC, DDB2, CDKN2A, ERCC3, ERCC5
16oligonucleotide448.6XPC, CDKN2A, MMP1, ABCA1, ERCC5, TP73
17atp44 289.0XPC, CDKN2A, RECQL, ABCA1, ERCC3, ERCC5

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group C

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet