MCID: XRD015
MIFTS: 46

Xeroderma Pigmentosum, Group F malady

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

Aliases & Classifications for Xeroderma Pigmentosum, Group F

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Xeroderma Pigmentosum, Group F:

Name: Xeroderma Pigmentosum, Group F 49 11 24 65
Xeroderma Pigmentosum Complementation Group F 51 67
Xeroderma Pigmentosum, Type F/cockayne Syndrome 49
Xeroderma Pigmentosum Type F/cockayne Syndrome 67
Xeroderma Pigmentosum, Type 6 45
Xeroderma Pigmentosum Vi 67
 
Xp, Group F 47
Xp Group F 67
Xpf/cs 67
Xp-F 67
Xp6 67
Xpf 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
xeroderma pigmentosum complementation group f:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages


External Ids:

OMIM49 278760
Orphanet51 276264
ICD10 via Orphanet28 Q82.1

Summaries for Xeroderma Pigmentosum, Group F

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UniProtKB/Swiss-Prot:67 Xeroderma pigmentosum complementation group F: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. Xeroderma pigmentosum type F/Cockayne syndrome: A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition.

MalaCards based summary: Xeroderma Pigmentosum, Group F, also known as xeroderma pigmentosum complementation group f, is related to gastric 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 Fanconi anemia pathway and Nucleotide excision repair. Affiliated tissues include skin, eye and brain, and related mouse phenotype liver/biliary system.

OMIM:49 Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin... (278760) more...

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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Interventional clinical trials:

Search ClinicalTrials, 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 F24

Anatomical Context for Xeroderma Pigmentosum, Group F

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8ERCC1, ERCC4, OGG1

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:

67 (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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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 factor 1 complexGO:00001109.9ERCC1, ERCC4
2ERCC4-ERCC1 complexGO:00705229.9ERCC1, ERCC4
3nucleotide-excision repair complexGO:00001099.8ERCC1, ERCC4
4transcription factor TFIID complexGO:00056699.4ERCC1, ERCC4
5nuclear chromosome, telomeric regionGO:00007849.3ERCC1, ERCC4

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.0ERCC1, ERCC4
2nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.0ERCC1, ERCC4
3UV protectionGO:00096509.9ERCC1, ERCC4
4negative regulation of telomere maintenanceGO:00322059.9ERCC1, ERCC4
5transcription-coupled nucleotide-excision repairGO:00062839.7ERCC1, ERCC4
6interstrand cross-link repairGO:00362979.6ERCC1, ERCC4
7nucleotide-excision repair, DNA damage removalGO:00007189.6ERCC1, ERCC4
8global genome nucleotide-excision repairGO:00709119.5ERCC1, ERCC4
9double-strand break repair via homologous recombinationGO:00007249.5ERCC1, ERCC4
10double-strand break repairGO:00063029.4ERCC1, ERCC4
11cellular response to DNA damage stimulusGO:00069749.3ERCC1, OGG1
12response to oxidative stressGO:00069799.2ERCC1, OGG1
13nucleotide-excision repairGO:00062899.0ERCC1, ERCC4, OGG1
14nucleotide-excision repair, DNA incisionGO:00336839.0ERCC1, ERCC4, OGG1
15DNA repairGO:00062818.5ERCC1, ERCC4, OGG1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1TFIID-class transcription factor bindingGO:000109410.0ERCC1, ERCC4
2single-stranded DNA endodeoxyribonuclease activityGO:00000149.8ERCC1, ERCC4
3structure-specific DNA bindingGO:00435669.8ERCC1, ERCC4
4protein C-terminus bindingGO:00080229.3ERCC1, ERCC4
5microtubule bindingGO:00080179.3KIF11, OGG1
6single-stranded DNA bindingGO:00036979.2ERCC1, ERCC4
7endonuclease activityGO:00045199.2ERCC1, ERCC4, OGG1
8damaged DNA bindingGO:00036848.5ERCC1, ERCC4, OGG1

Sources for Xeroderma Pigmentosum, Group F

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet