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 52 27 12 68
Xeroderma Pigmentosum, Type F/cockayne Syndrome 52 68
Xeroderma Pigmentosum Type F/cockayne Syndrome 70 27
Xeroderma Pigmentosum Complementation Group F 70
Xeroderma Pigmentosum, Type 6 48
Xeroderma Pigmentosum Vi 70
 
Xp, Group F 50
Xp Group F 70
Xpf/cs 70
Xp-F 70
Xp6 70

Characteristics:

HPO:

64
xeroderma pigmentosum, group f:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 278760

Summaries for Xeroderma Pigmentosum, Group F

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UniProtKB/Swiss-Prot:70 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 phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Decreased viability in esophageal squamous lineage.

OMIM:52 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 & Phenotypes 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:

 64 (show all 19)
id Description HPO Frequency HPO Source Accession
1 hearing impairment64 rare (5%) HP:0000365
2 astigmatism64 rare (5%) HP:0000483
3 deeply set eye64 rare (5%) HP:0000490
4 nystagmus64 rare (5%) HP:0000639
5 dementia64 rare (5%) HP:0000726
6 intellectual disability64 rare (5%) HP:0001249
7 ataxia64 rare (5%) HP:0001251
8 tremor64 rare (5%) HP:0001337
9 flexion contracture64 rare (5%) HP:0001371
10 scoliosis64 rare (5%) HP:0002650
11 short stature64 rare (5%) HP:0004322
12 decreased body weight64 rare (5%) HP:0004325
13 neoplasm of the skin64 rare (5%) HP:0008069
14 brain atrophy64 rare (5%) HP:0012444
15 microcephaly64 HP:0000252
16 cutaneous photosensitivity64 HP:0000992
17 defective dna repair after ultraviolet radiation damage64 HP:0003079
18 numerous pigmented freckles64 HP:0007587
19 papule64 HP:0200034

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Group F according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-39.3ERCC1, ERCC4, OGG1
2GR00235-A8.7ERCC1, ERCC4, KIF11, OGG1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group F according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6ERCC1, ERCC4, OGG1

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 F27
2 Xeroderma Pigmentosum, Type F/cockayne Syndrome27

Anatomical Context for Xeroderma Pigmentosum, Group F

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

36
Skin, Brain, Eye

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:

70 (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
2nuclear chromosome, telomeric regionGO:00007849.9ERCC1, ERCC4
3nucleotide-excision repair complexGO:00001099.9ERCC1, ERCC4
4nucleotide-excision repair factor 1 complexGO:00001109.9ERCC1, ERCC4
5transcription factor TFIID complexGO:00056699.4ERCC1, ERCC4

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1global genome nucleotide-excision repairGO:007091110.1ERCC1, ERCC4
2interstrand cross-link repairGO:003629710.1ERCC1, ERCC4
3negative regulation of telomere maintenanceGO:003220510.1ERCC1, ERCC4
4nucleotide-excision repairGO:000628910.1ERCC1, ERCC4
5nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.0ERCC1, ERCC4
6nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.0ERCC1, ERCC4
7nucleotide-excision repair, preincision complex stabilizationGO:000629310.0ERCC1, ERCC4
8cellular response to DNA damage stimulusGO:00069749.8ERCC1, OGG1
9transcription-coupled nucleotide-excision repairGO:00062839.7ERCC1, ERCC4
10response to oxidative stressGO:00069799.6ERCC1, OGG1
11UV protectionGO:00096509.4ERCC1, ERCC4
12DNA repairGO:00062819.3ERCC1, ERCC4, OGG1
13nucleotide-excision repair, DNA incisionGO:00336839.2ERCC1, ERCC4, OGG1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:000802210.0ERCC1, ERCC4
2single-stranded DNA bindingGO:00036979.8ERCC1, ERCC4
3single-stranded DNA endodeoxyribonuclease activityGO:00000149.7ERCC1, ERCC4
4microtubule bindingGO:00080179.6KIF11, OGG1
5structure-specific DNA bindingGO:00435669.6ERCC1, ERCC4
6TFIID-class transcription factor bindingGO:00010949.4ERCC1, ERCC4
7damaged DNA bindingGO:00036849.3ERCC1, ERCC4, OGG1

Sources for Xeroderma Pigmentosum, Group F

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet