XP-F
MCID: XRD015
MIFTS: 49

Xeroderma Pigmentosum, Group F (XP-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 12 68
Xeroderma Pigmentosum Group F 11 27 13
Xeroderma Pigmentosum, Type F/cockayne Syndrome 52 68
Xeroderma Pigmentosum Type F/cockayne Syndrome 70 27
Xeroderma Pigmentosum Vi 11 70
Xp Group F 11 70
Xp6 11 70
 
Xeroderma Pigmentosum Complementation Group F 70
Xeroderma Pigmentosum, Type 6 48
Xp, Group F 50
Xpf/cs 70
Xp-F 70
Xpf 11

Characteristics:

HPO:

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

Classifications:



External Ids:

OMIM52 278760
Disease Ontology11 DOID:0110848
ICD1030 Q82.1

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 group f, is related to cockayne syndrome, type a and xeroderma pigmentosum, group a, and has symptoms including microcephaly, hearing impairment and astigmatism. An important gene associated with Xeroderma Pigmentosum, Group F is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). Affiliated tissues include skin, brain and eye, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor).

Disease Ontology:11 A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has material basis in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.

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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Diseases in the Xeroderma Pigmentosum Group E family:

Xeroderma Pigmentosum, Group B Xeroderma Pigmentosum, Group C
Xeroderma Pigmentosum, Group a Xeroderma Pigmentosum, Group G
xeroderma pigmentosum, group f Xeroderma Pigmentosum, Group D

Diseases related to Xeroderma Pigmentosum, Group F via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome, type a10.8
2xeroderma pigmentosum, group a10.8
3myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay10.2ERCC1, ERCC4
4bone marrow failure syndrome 210.1ERCC1, ERCC4, XPA
5thymus lymphoma10.0ERCC2, XPA
6macular degeneration, age-related 59.9ERCC2, ERCC5
7colorectal cancer9.9
8lung cancer9.9
9breast cancer9.9
10confetti-like macular atrophy9.9ERCC2, ERCC4, ERCC5
11congenital stationary night blindness 1h9.9DDB2, RAD23B, XPA
12tamoxifen-related endometrial lesion9.9ERCC2, OGG1, XRCC1
13trichothiodystrophy 2, photosensitive9.9ERCC1, ERCC2, RAD23B, XPA
14gastric cancer9.9
15squamous cell carcinoma9.9
16melanoma9.9
17qazi markouizos syndrome9.8ERCC1, ERCC2, XPA
18charcot-marie-tooth disease type 2a9.8ERCC1, ERCC2, ERCC4, ERCC5
19lymphedema-distichiasis syndrome9.8ERCC1, ERCC2, ERCC4, SLX4
20t-cell large granular lymphocyte leukemia9.8ERCC1, ERCC2, ERCC5, XPA
21familial glucocorticoid deficiency9.7SLX4, XRCC1, XRCC3
22renal cell carcinoma9.7
23testicular germ cell tumor9.7
24leukemia9.7
25myeloid leukemia9.7
26myoclonic-atonic epilepsy9.6DDB2, ERCC2, RAD23B, XPA
27mycobacterium kansasii9.6ERCC2, RAD23B, XPA, XRCC1, XRCC3
283-methylglutaconic aciduria, type iii9.6ERCC1, ERCC2, ERCC4, ERCC5, RAD23B, XPA
29cerebrooculofacioskeletal syndrome 29.4ERCC1, ERCC2, OGG1, RAD23B, XPA, XRCC1
30renal artery obstruction9.4DDB2, ERCC1, ERCC2, ERCC4, ERCC5, XPA
31bile acid malabsorption, primary9.1DDB2, ERCC1, ERCC4, ERCC5, RAD23B, XPA
32retinitis pigmentosa 7 and digenic8.8DDB2, ERCC1, ERCC2, ERCC4, ERCC5, OGG1
33fanconi anemia, complementation group q8.3DDB2, EME1, ERCC1, ERCC2, ERCC4, ERCC5

Graphical network of the top 20 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 microcephaly64 HP:0000252
2 hearing impairment64 HP:0000365
3 astigmatism64 HP:0000483
4 deeply set eye64 HP:0000490
5 nystagmus64 HP:0000639
6 dementia64 HP:0000726
7 cutaneous photosensitivity64 HP:0000992
8 intellectual disability64 HP:0001249
9 ataxia64 HP:0001251
10 tremor64 HP:0001337
11 flexion contracture64 HP:0001371
12 scoliosis64 HP:0002650
13 defective dna repair after ultraviolet radiation damage64 HP:0003079
14 short stature64 HP:0004322
15 decreased body weight64 HP:0004325
16 numerous pigmented freckles64 HP:0007587
17 neoplasm of the skin64 HP:0008069
18 brain atrophy64 HP:0012444
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-37.0DDB2, EME1, ERCC1, ERCC2, ERCC4, OGG1
2GR00250-A-15.0DDB2, EME1, ERCC1, ERCC4, XRCC1, XRCC3

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4DDB2, ERCC1, ERCC2, ERCC5, RAD23B, XPA
2MP:00020068.4DDB2, ERCC1, ERCC2, OGG1, XPA, XRCC1
3MP:00053978.1EME1, ERCC1, ERCC2, ERCC5, OGG1, SLX4
4MP:00053877.7EME1, ERCC1, ERCC2, ERCC5, OGG1, RAD23B
5MP:00053847.5DDB2, ERCC1, ERCC2, ERCC4, OGG1, RAD23B
6MP:00053787.0DDB2, ERCC1, ERCC2, ERCC4, ERCC5, KIF11
7MP:00107686.2DDB2, ERCC1, ERCC2, ERCC4, ERCC5, KIF11

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
Crystallization of the xeroderma pigmentosum group F endonuclease from Aeropyrum pernix. (15333947)
2004
5
Defining the function of xeroderma pigmentosum group F protein in psoralen interstrand cross-link-mediated DNA repair and mutagenesis. (14728600)
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.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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Pathways related to Xeroderma Pigmentosum, Group F according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.0ERCC1, ERCC4
2
Show member pathways
9.2EME1, SLX4, XRCC3
3
Show member pathways
9.2EME1, ERCC1, ERCC4, SLX4
49.0ERCC1, ERCC2, ERCC4, XPA
5
Show member pathways
8.7EME1, ERCC1, ERCC4, SLX4, XRCC3
6
Show member pathways
7.3ERCC1, ERCC2, ERCC4, ERCC5, OGG1, RAD23B
7
Show member pathways
7.3DDB2, ERCC1, ERCC2, ERCC4, ERCC5, RAD23B
87.0DDB2, ERCC1, ERCC2, ERCC4, KIF11, RAD23B
9
Show member pathways
6.8DDB2, ERCC1, ERCC2, ERCC4, ERCC5, RAD23B
10
Show member pathways
5.3DDB2, EME1, ERCC1, ERCC2, ERCC4, ERCC5

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:000010910.8ERCC1, ERCC4
2Holliday junction resolvase complexGO:004847610.5EME1, SLX4
3DNA replication factor A complexGO:000566210.5ERCC5, XPA
4nucleotide-excision repair factor 1 complexGO:000011010.4ERCC1, ERCC4, XPA
5holo TFIIH complexGO:000567510.2ERCC2, ERCC5
6ERCC4-ERCC1 complexGO:00705229.9ERCC1, ERCC4, SLX4, XRCC1
7nuclear chromosome, telomeric regionGO:00007849.4ERCC1, ERCC4, SLX4, XRCC1, XRCC3
8transcription factor TFIID complexGO:00056699.3ERCC1, ERCC2, ERCC4
9nucleoplasmGO:00056546.1DDB2, EME1, ERCC1, ERCC2, ERCC4, ERCC5
10nucleusGO:00056345.7DDB2, EME1, ERCC1, ERCC2, ERCC4, ERCC5

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of telomere maintenanceGO:003220510.6ERCC1, ERCC4
2nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.6ERCC4, XPA
3positive regulation of t-circle formationGO:190443110.5ERCC1, SLX4
4response to intra-S DNA damage checkpoint signalingGO:007242910.3EME1, SLX4
5double-strand break repair via nonhomologous end joiningGO:000630310.1ERCC1, ERCC4, XRCC1
6negative regulation of protection from non-homologous end joining at telomereGO:190576510.1ERCC1, ERCC4, XRCC1
7base-excision repairGO:000628410.1OGG1, XPA, XRCC1
8resolution of meiotic recombination intermediatesGO:000071210.1EME1, ERCC4, SLX4
9negative regulation of telomere maintenance via telomere lengtheningGO:190435710.1ERCC4, SLX4, XRCC3
10telomeric DNA-containing double minutes formationGO:006181910.0ERCC1, ERCC4, XRCC1
11multicellular organism growthGO:00352649.9ERCC1, ERCC2, XPA
12embryonic organ developmentGO:00485689.9ERCC1, ERCC2, RAD23B
13t-circle formationGO:00906569.9ERCC1, SLX4, XRCC3
14DNA recombinationGO:00063109.7EME1, ERCC1, SLX4, XRCC3
15nucleotide-excision repair, DNA damage recognitionGO:00007159.6DDB2, RAD23B, XPA
16double-strand break repair via homologous recombinationGO:00007249.6ERCC4, SLX4, XRCC1, XRCC3
17response to oxidative stressGO:00069799.5ERCC1, ERCC2, OGG1, XPA
18interstrand cross-link repairGO:00362979.4EME1, ERCC1, ERCC4, SLX4, XRCC3
19UV-damage excision repairGO:00709149.1DDB2, ERCC1, XPA
20nucleotide-excision repair, DNA duplex unwindingGO:00007179.0DDB2, ERCC2, RAD23B, XPA
21UV protectionGO:00096508.7ERCC1, ERCC2, ERCC4, ERCC5, XPA
22global genome nucleotide-excision repairGO:00709118.5DDB2, ERCC1, ERCC2, ERCC4, RAD23B, XPA
23response to UVGO:00094118.5DDB2, ERCC2, ERCC4, ERCC5, XPA
24nucleotide-excision repair, preincision complex assemblyGO:00062948.5DDB2, ERCC2, ERCC5, RAD23B, XPA
25transcription-coupled nucleotide-excision repairGO:00062838.3ERCC1, ERCC2, ERCC4, ERCC5, XPA, XRCC1
26nucleotide-excision repair, DNA incision, 3-to lesionGO:00062958.3DDB2, ERCC1, ERCC2, ERCC4, ERCC5, XPA
27nucleotide-excision repair, DNA incision, 5-to lesionGO:00062968.3DDB2, ERCC1, ERCC2, ERCC4, ERCC5, XPA
28nucleotide-excision repair, preincision complex stabilizationGO:00062938.3DDB2, ERCC1, ERCC2, ERCC4, ERCC5, XPA
29nucleotide-excision repair, DNA incisionGO:00336838.0DDB2, ERCC1, ERCC2, ERCC4, ERCC5, OGG1
30nucleotide-excision repairGO:00062897.3DDB2, ERCC1, ERCC2, ERCC4, ERCC5, OGG1
31cellular response to DNA damage stimulusGO:00069746.0DDB2, EME1, ERCC1, ERCC2, ERCC4, ERCC5
32DNA repairGO:00062816.0DDB2, EME1, ERCC1, ERCC2, ERCC4, ERCC5

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
13 overhang single-stranded DNA endodeoxyribonuclease activityGO:199059910.3ERCC1, ERCC4, XRCC1
2DNA-dependent ATPase activityGO:000809410.2ERCC2, XRCC3
3single-stranded DNA endodeoxyribonuclease activityGO:000001410.2ERCC1, ERCC4
4crossover junction endodeoxyribonuclease activityGO:000882110.1EME1, SLX4, XRCC3
5TFIID-class transcription factor bindingGO:000109410.0ERCC1, ERCC4
6protein C-terminus bindingGO:00080229.9ERCC1, ERCC2, ERCC4
7nuclease activityGO:00045189.8EME1, ERCC1, ERCC4, ERCC5
8endodeoxyribonuclease activityGO:00045209.7EME1, ERCC4, ERCC5, SLX4
9protein N-terminus bindingGO:00474859.6ERCC2, ERCC4, ERCC5
10endonuclease activityGO:00045199.6EME1, ERCC1, ERCC4, ERCC5, OGG1
11hydrolase activityGO:00167878.9EME1, ERCC1, ERCC2, ERCC4, ERCC5, OGG1
12single-stranded DNA bindingGO:00036978.9ERCC1, ERCC4, ERCC5, RAD23B, XRCC3
13damaged DNA bindingGO:00036848.5DDB2, ERCC1, ERCC4, OGG1, RAD23B, XPA
14DNA bindingGO:00036777.3DDB2, EME1, ERCC1, ERCC2, ERCC4, ERCC5
15protein bindingGO:00055155.9DDB2, EME1, ERCC1, ERCC2, ERCC4, ERCC5

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