XPF
MCID: XRD015
MIFTS: 41

Xeroderma Pigmentosum, Group F (XPF) malady

Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases, Rare diseases categories

Summaries for Xeroderma Pigmentosum, Group F

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48OMIM, 34MalaCards
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MalaCards: Xeroderma Pigmentosum, Group F, also known as xeroderma pigmentosum complementation group f, is related to xeroderma pigmentosum and lung cancer. An important gene associated with Xeroderma Pigmentosum, Group F is ERCC4 (excision repair cross-complementation group 4), and among its related pathways are Global Genomic NER (GG-NER) and Fanconi anemia pathway. The compounds psoralen and melphalan have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related mouse phenotypes are liver/biliary system and mortality/aging.

Description from OMIM:48 278760

Aliases & Classifications for Xeroderma Pigmentosum, Group F

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48OMIM, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
xeroderma pigmentosum complementation group f:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

xeroderma pigmentosum, group f 48 63
xeroderma pigmentosum complementation group f 50
xpf 50


External Ids:

SNOMED-CT via Orphanet60 42530008
OMIM48 278760
ICD10 via Orphanet27 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group F

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Xeroderma Pigmentosum, Group F:



Diseases related to xeroderma pigmentosum, group f

Symptoms for Xeroderma Pigmentosum, Group F

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48OMIM
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Symptoms by clinical synopsis from OMIM:

278760

Clinical features from OMIM:

278760

Drugs & Therapeutics for Xeroderma Pigmentosum, Group F

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Xeroderma Pigmentosum, Group F

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Genetic Tests for Xeroderma Pigmentosum, Group F

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Anatomical Context for Xeroderma Pigmentosum, Group F

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34MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group F:

34
Skin, Eye

Animal Models for Xeroderma Pigmentosum, Group F or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group F:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2OGG1, ERCC1, ERCC4
2MP:00107688.0OGG1, ERCC1, ERCC4, KIF11

Publications for Xeroderma Pigmentosum, Group F

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53PubMed
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Articles related to Xeroderma Pigmentosum, Group F:

idTitleAuthorsYear
1
Conservation of the nucleotide excision repair pathway: characterization of hydra Xeroderma Pigmentosum group F homolog. (23577191)
2013
2
Xeroderma pigmentosum group F protein binds to Eg5 and is required for proper mitosis: implications for XP-F and XFE. (22353549)
2012
3
1-Methyl-4-phenyl-pyridinium time-dependently alters expressions of oxoguanine glycosylase 1 and xeroderma pigmentosum group F protein in PC12 cells. (20101267)
2010
4
Defining the function of xeroderma pigmentosum group F protein in psoralen interstrand cross-link-mediated DNA repair and mutagenesis. (14728600)
2004
5
Crystallization of the xeroderma pigmentosum group F endonuclease from Aeropyrum pernix. (15333947)
2004
6
Characterization of molecular defects in Xeroderma pigmentosum group F in relation to its clinically mild symptoms. (9580660)
1998
7
Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F. (8253091)
1993

Variations for Xeroderma Pigmentosum, Group F

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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Group F:

65 (show all 11)
id Symbol AA change Variation ID SNP ID
1ERCC4p.Arg799TrpVAR_005850
2ERCC4p.Ile225MetVAR_008200
3ERCC4p.Arg454TrpVAR_008201
4ERCC4p.Arg490GlnVAR_008202
5ERCC4p.Glu502LysVAR_008203
6ERCC4p.Gly513ArgVAR_008204
7ERCC4p.Ile529ThrVAR_008205
8ERCC4p.Thr567AlaVAR_008206
9ERCC4p.Leu608ProVAR_013398
10ERCC4p.Cys236ArgVAR_070087
11ERCC4p.Arg589TrpVAR_070088

Expression for genes affiliated with Xeroderma Pigmentosum, Group F

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group F

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

Pathways for genes affiliated with Xeroderma Pigmentosum, Group F

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51PathCards, 56Reactome, 31KEGG, 54QIAGEN, 52PharmGKB, 5Cell Signaling Technology
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Compounds for genes affiliated with Xeroderma Pigmentosum, Group F

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46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Xeroderma Pigmentosum, Group F according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1psoralen469.3ERCC4, ERCC1
2melphalan46 52 1211.2ERCC1, ERCC4
3mitomycin c469.2ERCC4, ERCC1
4thymidylate469.1ERCC4, ERCC1
5paclitaxel46 52 1211.1ERCC1, KIF11
6cyclophosphamide46 52 1211.0ERCC4, ERCC1
75fluorouracil468.8ERCC4, ERCC1
8thymidine46 259.7OGG1, ERCC1, ERCC4

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group F

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17Gene Ontology
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Cellular components related to Xeroderma Pigmentosum, Group F according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair complexGO:0001099.1ERCC1, ERCC4
2nuclear chromosome, telomeric regionGO:0007849.0ERCC1, ERCC4
3transcription factor TFIID complexGO:0056698.8ERCC1, ERCC4
4nucleoplasmGO:0056548.5OGG1, ERCC1, ERCC4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incision, 5-to lesionGO:0062969.3ERCC1, ERCC4
2nucleotide-excision repair, DNA incision, 3-to lesionGO:0062959.3ERCC4, ERCC1
3negative regulation of telomere maintenanceGO:0322059.2ERCC1, ERCC4
4UV protectionGO:0096509.2ERCC4, ERCC1
5nucleotide-excision repair, DNA damage removalGO:0007189.0ERCC1, ERCC4
6response to oxidative stressGO:0069799.0ERCC1, OGG1
7transcription-coupled nucleotide-excision repairGO:0062838.8ERCC4, ERCC1
8DNA catabolic process, endonucleolyticGO:0007378.7OGG1, ERCC1, ERCC4
9nucleotide-excision repairGO:0062898.7ERCC1, ERCC4, OGG1
10DNA repairGO:0062818.5ERCC4, ERCC1, OGG1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1TFIID-class transcription factor bindingGO:0010949.2ERCC1, ERCC4
2single-stranded DNA endodeoxyribonuclease activityGO:0000149.2ERCC1, ERCC4
3structure-specific DNA bindingGO:0435669.1ERCC4, ERCC1
4protein C-terminus bindingGO:0080229.1ERCC1, ERCC4
5single-stranded DNA bindingGO:0036979.0ERCC1, ERCC4
6microtubule bindingGO:0080179.0OGG1, KIF11
7damaged DNA bindingGO:0036848.7OGG1, ERCC1, ERCC4

Products for genes affiliated with Xeroderma Pigmentosum, Group F

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  • Antibodies
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Sources for Xeroderma Pigmentosum, Group F

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet