MCID: XRD015
MIFTS: 45

Xeroderma Pigmentosum, Group F malady

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

Summaries for Xeroderma Pigmentosum, Group F

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OMIM:45 Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin... (278760) more...

MalaCards based summary: Xeroderma Pigmentosum, Group F, also known as xeroderma pigmentosum, type f/cockayne syndrome, is related to lung cancer and breast cancer, and has symptoms including hearing impairment, astigmatism and deeply set eye. 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, eye and brain, and related mouse phenotypes are liver/biliary system and mortality/aging.

Aliases & Classifications for Xeroderma Pigmentosum, Group F

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Sources:
45OMIM, 10diseasecard, 22GTR, 60UMLS, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 26ICD10 via Orphanet
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Xeroderma Pigmentosum, Group F, Aliases & Descriptions:

Name: Xeroderma Pigmentosum, Group F 45 10 22 60
Xeroderma Pigmentosum, Type F/cockayne Syndrome 45
Xeroderma Pigmentosum, Complementation Group F 45
Xeroderma Pigmentosum Complementation Group F 47
 
Xeroderma Pigmentosum, Type 6 41
Xp, Group F 43
Xpf 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
xeroderma pigmentosum complementation group f:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages


External Ids:

OMIM45 278760
Orphanet47 276264
ICD10 via Orphanet26 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group F

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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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Symptoms by clinical synopsis from OMIM:

278760

Clinical features from OMIM:

278760

HPO human phenotypes related to Xeroderma Pigmentosum, Group F:

(show all 21)
id Description Frequency HPO Source Accession
1 hearing impairment rare (5%) HP:0000365
2 astigmatism rare (5%) HP:0000483
3 deeply set eye rare (5%) HP:0000490
4 nystagmus rare (5%) HP:0000639
5 dementia rare (5%) HP:0000726
6 intellectual disability rare (5%) HP:0001249
7 ataxia rare (5%) HP:0001251
8 tremor rare (5%) HP:0001337
9 flexion contracture rare (5%) HP:0001371
10 scoliosis rare (5%) HP:0002650
11 short stature rare (5%) HP:0004322
12 decreased body weight rare (5%) HP:0004325
13 neoplasm of the skin rare (5%) HP:0008069
14 brain atrophy rare (5%) HP:0012444
15 autosomal recessive inheritance HP:0000007
16 microcephaly HP:0000252
17 cutaneous photosensitivity HP:0000992
18 defective dna repair after ultraviolet radiation damage HP:0003079
19 phenotypic variability HP:0003812
20 numerous pigmented freckles HP:0007587
21 papule HP:0200034

Drugs & Therapeutics for Xeroderma Pigmentosum, Group F

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Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Group F

Search NIH Clinical Center for Xeroderma Pigmentosum, Group F

Genetic Tests for Xeroderma Pigmentosum, Group F

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Genetic tests related to Xeroderma Pigmentosum, Group F:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group F22

Anatomical Context for Xeroderma Pigmentosum, Group F

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

31
Skin, Eye, Brain

Animal Models for Xeroderma Pigmentosum, Group F or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group F:

35
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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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
Xeroderma pigmentosum group F caused by a defect in a structure- specific DNA repair endonuclease. (8797827)
1996
8
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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UniProtKB/Swiss-Prot 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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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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Compounds for genes affiliated with Xeroderma Pigmentosum, Group F

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB
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Compounds related to Xeroderma Pigmentosum, Group F according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1psoralen439.3ERCC1, ERCC4
2melphalan43 49 1211.2ERCC1, ERCC4
3mitomycin c439.2ERCC4, ERCC1
4thymidylate439.1ERCC1, ERCC4
5paclitaxel43 49 1211.1ERCC1, KIF11
6cyclophosphamide43 49 1211.0ERCC1, ERCC4
75fluorouracil438.8ERCC1, ERCC4
8thymidine43 249.7OGG1, ERCC1, ERCC4

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group F

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Cellular components related to Xeroderma Pigmentosum, Group F according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair complexGO:00001099.1ERCC1, ERCC4
2nuclear chromosome, telomeric regionGO:00007849.0ERCC1, ERCC4
3transcription factor TFIID complexGO:00056698.8ERCC1, ERCC4
4nucleoplasmGO:00056548.5OGG1, ERCC1, ERCC4

Biological processes related to Xeroderma Pigmentosum, Group F according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.3ERCC1, ERCC4
2nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.3ERCC1, ERCC4
3negative regulation of telomere maintenanceGO:00322059.2ERCC4, ERCC1
4UV protectionGO:00096509.2ERCC1, ERCC4
5nucleotide-excision repair, DNA damage removalGO:00007189.0ERCC4, ERCC1
6response to oxidative stressGO:00069799.0OGG1, ERCC1
7transcription-coupled nucleotide-excision repairGO:00062838.8ERCC1, ERCC4
8DNA catabolic process, endonucleolyticGO:00007378.7OGG1, ERCC1, ERCC4
9nucleotide-excision repairGO:00062898.7ERCC4, ERCC1, OGG1
10DNA repairGO:00062818.5OGG1, ERCC1, ERCC4

Molecular functions related to Xeroderma Pigmentosum, Group F according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1TFIID-class transcription factor bindingGO:00010949.2ERCC1, ERCC4
2single-stranded DNA endodeoxyribonuclease activityGO:00000149.2ERCC1, ERCC4
3structure-specific DNA bindingGO:00435669.1ERCC4, ERCC1
4protein C-terminus bindingGO:00080229.1ERCC1, ERCC4
5single-stranded DNA bindingGO:00036979.0ERCC1, ERCC4
6microtubule bindingGO:00080179.0OGG1, KIF11
7damaged DNA bindingGO:00036848.7OGG1, ERCC1, ERCC4

Products for genes affiliated with Xeroderma Pigmentosum, Group F

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Sources for Xeroderma Pigmentosum, Group F

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet