MCID: XRD015
MIFTS: 44

Xeroderma Pigmentosum, Group F malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group F

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Aliases & Descriptions for Xeroderma Pigmentosum, Group F:

Name: Xeroderma Pigmentosum, Group F 51 26 12 67
Xeroderma Pigmentosum, Type F/cockayne Syndrome 51 67
Xeroderma Pigmentosum Type F/cockayne Syndrome 69 26
Xeroderma Pigmentosum Complementation Group F 69
Xeroderma Pigmentosum, Type 6 47
Xeroderma Pigmentosum Vi 69
 
Xp, Group F 49
Xp Group F 69
Xpf/cs 69
Xp-F 69
Xp6 69

Characteristics:

HPO:

63
xeroderma pigmentosum, group f:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM51 278760

Summaries for Xeroderma Pigmentosum, Group F

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UniProtKB/Swiss-Prot:69 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 cockayne syndrome, type a and gastric cancer, and has symptoms including hearing impairment, astigmatism and deeply set eye. An important gene associated with Xeroderma Pigmentosum, Group F is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways are Nucleotide excision repair and Fanconi anemia pathway. Affiliated tissues include skin, brain and eye, and related mouse phenotype liver/biliary system.

OMIM:51 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

Human phenotypes related to Xeroderma Pigmentosum, Group F:

 63 (show all 19)
id Description HPO Frequency HPO Source Accession
1 hearing impairment63 rare (5%) HP:0000365
2 astigmatism63 rare (5%) HP:0000483
3 deeply set eye63 rare (5%) HP:0000490
4 nystagmus63 rare (5%) HP:0000639
5 dementia63 rare (5%) HP:0000726
6 intellectual disability63 rare (5%) HP:0001249
7 ataxia63 rare (5%) HP:0001251
8 tremor63 rare (5%) HP:0001337
9 flexion contracture63 rare (5%) HP:0001371
10 scoliosis63 rare (5%) HP:0002650
11 short stature63 rare (5%) HP:0004322
12 decreased body weight63 rare (5%) HP:0004325
13 neoplasm of the skin63 rare (5%) HP:0008069
14 brain atrophy63 rare (5%) HP:0012444
15 microcephaly63 HP:0000252
16 cutaneous photosensitivity63 HP:0000992
17 defective dna repair after ultraviolet radiation damage63 HP:0003079
18 numerous pigmented freckles63 HP:0007587
19 papule63 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 F26
2 Xeroderma Pigmentosum, Type F/cockayne Syndrome26

Anatomical Context for Xeroderma Pigmentosum, Group F

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

35
Skin, Brain, Eye

Animal Models for Xeroderma Pigmentosum, Group F or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group F:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6ERCC1, 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:

69 (show all 11)
id Symbol AA change Variation ID SNP ID
1ERCC4p.Arg799TrpVAR_005850rs121913049
2ERCC4p.Ile225MetVAR_008200rs764731249
3ERCC4p.Arg454TrpVAR_008201
4ERCC4p.Arg490GlnVAR_008202
5ERCC4p.Glu502LysVAR_008203
6ERCC4p.Gly513ArgVAR_008204rs769679311
7ERCC4p.Ile529ThrVAR_008205
8ERCC4p.Thr567AlaVAR_008206
9ERCC4p.Leu608ProVAR_013398
10ERCC4p.Cys236ArgVAR_070087rs397509403
11ERCC4p.Arg589TrpVAR_070088rs147105770

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)SNVPathogenicrs121913049GRCh37Chr 16, 14041848: 14041848
3ERCC4NM_005236.2(ERCC4): c.915delA (p.Asn308Ilefs)deletionLikely pathogenicrs772432152GRCh37Chr 16, 14024689: 14024689

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
1ERCC4-ERCC1 complexGO:007052210.0ERCC1, ERCC4
2nucleotide-excision repair complexGO:000010910.0ERCC1, ERCC4
3transcription factor TFIID complexGO:00056699.8ERCC1, ERCC4
4nucleotide-excision repair factor 1 complexGO:00001109.8ERCC1, ERCC4
5nuclear chromosome, telomeric regionGO:00007849.4ERCC1, ERCC4

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of telomere maintenanceGO:003220510.1ERCC1, ERCC4
2UV protectionGO:000965010.0ERCC1, ERCC4
3interstrand cross-link repairGO:00362979.8ERCC1, ERCC4
4transcription-coupled nucleotide-excision repairGO:00062839.8ERCC1, ERCC4
5nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.7ERCC1, ERCC4
6nucleotide-excision repairGO:00062899.7ERCC1, ERCC4
7nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.7ERCC1, ERCC4
8nucleotide-excision repair, preincision complex stabilizationGO:00062939.7ERCC1, ERCC4
9global genome nucleotide-excision repairGO:00709119.7ERCC1, ERCC4
10response to oxidative stressGO:00069799.3ERCC1, OGG1
11cellular response to DNA damage stimulusGO:00069749.2ERCC1, OGG1
12nucleotide-excision repair, DNA incisionGO:00336838.9ERCC1, ERCC4, OGG1
13DNA repairGO:00062818.6ERCC1, ERCC4, OGG1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1structure-specific DNA bindingGO:004356610.0ERCC1, ERCC4
2TFIID-class transcription factor bindingGO:000109410.0ERCC1, ERCC4
3single-stranded DNA endodeoxyribonuclease activityGO:00000149.8ERCC1, ERCC4
4single-stranded DNA bindingGO:00036979.5ERCC1, ERCC4
5protein C-terminus bindingGO:00080229.1ERCC1, ERCC4
6microtubule bindingGO:00080179.0KIF11, OGG1
7damaged DNA bindingGO:00036848.9ERCC1, ERCC4, OGG1

Sources for Xeroderma Pigmentosum, Group F

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet