XPF
MCID: XRD015
MIFTS: 40

Xeroderma Pigmentosum, Group F (XPF) malady

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

Summaries for Xeroderma Pigmentosum, Group F

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46OMIM, 32MalaCards
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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-complementing rodent repair deficiency, complementation group 4), and among its related pathways are Formation of RNA Pol II elongation complex and Global Genomic NER (GG-NER). 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:46 278760

Aliases & Classifications for Xeroderma Pigmentosum, Group F

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



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

xeroderma pigmentosum, group f 46 60
xeroderma pigmentosum complementation group f 48
xpf 48


External Ids:

SNOMED-CT via Orphanet57 42530008
OMIM46 278760
ICD10 via Orphanet26 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group F

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Xeroderma Pigmentosum, Group F:



Diseases related to xeroderma pigmentosum, group f

Clinical Features for Xeroderma Pigmentosum, Group F

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46OMIM
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Clinical features from OMIM:

278760

Clinical synopsis from OMIM:

278760

Drugs & Therapeutics for Xeroderma Pigmentosum, Group F

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

32
Skin, Eye

Animal Models for Xeroderma Pigmentosum, Group F or affiliated genes

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2ERCC1, ERCC4, OGG1
2MP:00107688.0ERCC1, ERCC4, KIF11, OGG1

Publications for Xeroderma Pigmentosum, Group F

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Genetic Variations for Xeroderma Pigmentosum, Group F

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

62 (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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1BioGPS, 15Gene 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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53Reactome, 29KEGG, 51QIAGEN, 49PharmGKB, 4Cell Signaling Technology
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Compounds for genes affiliated with Xeroderma Pigmentosum, Group F

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44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Xeroderma Pigmentosum, Group F according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1psoralen449.5ERCC1, ERCC4
2melphalan44 1110.4ERCC1, ERCC4
3mitomycin c449.3ERCC4, ERCC1
45fluorouracil449.3ERCC1, ERCC4
5thymidylate449.2ERCC1, ERCC4
6cyclophosphamide44 49 1111.0ERCC1, ERCC4
7thymidine44 249.6ERCC1, ERCC4, OGG1

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group F

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16Gene 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:0001099.3ERCC1, ERCC4
2nuclear chromosome, telomeric regionGO:0007849.2ERCC1, ERCC4
3transcription factor TFIID complexGO:0056699.0ERCC1, ERCC4
4nucleoplasmGO:0056548.5ERCC1, ERCC4, OGG1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incision, 5-to lesionGO:0062969.5ERCC4, ERCC1
2nucleotide-excision repair, DNA incision, 3-to lesionGO:0062959.5ERCC4, ERCC1
3negative regulation of telomere maintenanceGO:0322059.4ERCC1, ERCC4
4UV protectionGO:0096509.4ERCC4, ERCC1
5nucleotide-excision repair, DNA damage removalGO:0007189.3ERCC1, ERCC4
6transcription-coupled nucleotide-excision repairGO:0062839.0ERCC1, ERCC4
7response to oxidative stressGO:0069799.0ERCC1, OGG1
8nucleotide-excision repairGO:0062898.7ERCC1, ERCC4, OGG1
9DNA repairGO:0062818.4OGG1, ERCC4, ERCC1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA endodeoxyribonuclease activityGO:0000149.9ERCC1
2TFIID-class transcription factor bindingGO:0010949.4ERCC1, ERCC4
3structure-specific DNA bindingGO:0435669.3ERCC4, ERCC1
4protein C-terminus bindingGO:0080229.3ERCC1, ERCC4
5single-stranded DNA bindingGO:0036979.2ERCC1, ERCC4
6microtubule bindingGO:0080178.8KIF11, OGG1
7damaged DNA bindingGO:0036848.7ERCC1, ERCC4, OGG1

Products for genes affiliated with Xeroderma Pigmentosum, Group F

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Xeroderma Pigmentosum, Group F

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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