MCID: XRD015
MIFTS: 41

Xeroderma Pigmentosum, Group F malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group F

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Aliases & Descriptions for Xeroderma Pigmentosum, Group F:

Name: Xeroderma Pigmentosum, Group F 49 11 24 65
Xeroderma Pigmentosum, Type F/cockayne Syndrome 49 65
Xeroderma Pigmentosum Type F/cockayne Syndrome 67 24
Xeroderma Pigmentosum Complementation Group F 51 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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
xeroderma pigmentosum, group f:
Onset and clinical course: phenotypic variability
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 278760
Orphanet51 276264
ICD10 via Orphanet28 Q82.1
UMLS65 C0268140, C3806565

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, type f/cockayne syndrome, is related to gastric cancer and glioma, and has symptoms including brain atrophy, neoplasm of the skin and decreased body weight. An important gene associated with Xeroderma Pigmentosum, Group F is ERCC4 (Excision Repair Cross-Complementation Group 4), and among its related pathways are Homologous DNA Pairing and Strand Exchange and Chks in Checkpoint Regulation. Affiliated tissues include skin, eye and brain.

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

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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Anatomical Context for Xeroderma Pigmentosum, Group F

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

33
Skin, Eye, Brain, Lung, Endothelial

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

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
9

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

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group F:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC4NM_005236.2(ERCC4): c.2304_2307delTCTC (p.Thr770Profs)deletionPathogenicrs869025184GRCh38Chr 16, 13947900: 13947903
2ERCC4NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp)single nucleotide variantPathogenicrs121913049GRCh37Chr 16, 14041848: 14041848

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

idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:00096509.4ERCC1, ERCC4
2nucleotide-excision repair, preincision complex stabilizationGO:00062939.2ERCC1, ERCC4
3transcription-coupled nucleotide-excision repairGO:00062839.1ERCC1, ERCC4
4nucleotide-excision repair, DNA incisionGO:00336839.0ERCC1, ERCC4
5nucleotide-excision repairGO:00062898.9ERCC1, ERCC4
6nucleotide-excision repair, DNA incision, 3-to lesionGO:00062958.7ERCC1, ERCC4

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

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:00036979.0ERCC1, ERCC4
2protein C-terminus bindingGO:00080228.9ERCC1, ERCC4

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