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

Aliases & Descriptions for Xeroderma Pigmentosum, Group F:

Name: Xeroderma Pigmentosum, Group F 54 13 69
Xeroderma Pigmentosum Group F 12 29 14
Xeroderma Pigmentosum, Type F/cockayne Syndrome 54 69
Xeroderma Pigmentosum Type F/cockayne Syndrome 66 29
Xeroderma Pigmentosum Vi 12 66
Xp Group F 12 66
Xp6 12 66
Xeroderma Pigmentosum Complementation Group F 66
Xeroderma Pigmentosum, Type 6 50
Xp, Group F 52
Xpf/cs 66
Xp-F 66
Xpf 12

Characteristics:

HPO:

32
xeroderma pigmentosum, group f:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 278760
Disease Ontology 12 DOID:0110848
ICD10 33 Q82.1

Summaries for Xeroderma Pigmentosum, Group F

UniProtKB/Swiss-Prot : 66 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 ataxia, tremor and brain atrophy. An important gene associated with Xeroderma Pigmentosum, Group F is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Affiliated tissues include skin, eye and brain, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and growth/size/body region

Disease Ontology : 12 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 : 54 Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin... (278760) more...

Related Diseases for Xeroderma Pigmentosum, Group F

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)
id Related Disease Score Top Affiliating Genes
1 cockayne syndrome, type a 10.8
2 xeroderma pigmentosum, group a 10.8
3 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 10.2 ERCC1 ERCC4
4 bone marrow failure syndrome 2 10.1 ERCC1 ERCC4 XPA
5 thymus lymphoma 10.0 ERCC2 XPA
6 macular degeneration, age-related 5 9.9 ERCC2 ERCC5
7 colorectal cancer 9.9
8 lung cancer 9.9
9 breast cancer 9.9
10 confetti-like macular atrophy 9.9 ERCC2 ERCC4 ERCC5
11 congenital stationary night blindness 1h 9.9 DDB2 RAD23B XPA
12 tamoxifen-related endometrial lesion 9.9 ERCC2 OGG1 XRCC1
13 trichothiodystrophy 2, photosensitive 9.9 ERCC1 ERCC2 RAD23B XPA
14 gastric cancer 9.9
15 squamous cell carcinoma 9.9
16 melanoma 9.9
17 qazi markouizos syndrome 9.8 ERCC1 ERCC2 XPA
18 charcot-marie-tooth disease type 2a 9.8 ERCC1 ERCC2 ERCC4 ERCC5
19 lymphedema-distichiasis syndrome 9.8 ERCC1 ERCC2 ERCC4 SLX4
20 t-cell large granular lymphocyte leukemia 9.8 ERCC1 ERCC2 ERCC5 XPA
21 familial glucocorticoid deficiency 9.7 SLX4 XRCC1 XRCC3
22 testicular germ cell tumor 9.7
23 leukemia 9.7
24 myeloid leukemia 9.7
25 renal cell carcinoma 9.7
26 myoclonic-atonic epilepsy 9.6 DDB2 ERCC2 RAD23B XPA
27 mycobacterium kansasii 9.6 ERCC2 RAD23B XPA XRCC1 XRCC3
28 3-methylglutaconic aciduria, type iii 9.6 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B XPA
29 cerebrooculofacioskeletal syndrome 2 9.4 ERCC1 ERCC2 OGG1 RAD23B XPA XRCC1
30 renal artery obstruction 9.4 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
31 bile acid malabsorption, primary 9.1 DDB2 ERCC1 ERCC4 ERCC5 RAD23B XPA
32 retinitis pigmentosa 7 and digenic 8.8 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 OGG1
33 fanconi anemia, complementation group q 8.3 DDB2 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

Symptoms by clinical synopsis from OMIM:

278760

Clinical features from OMIM:

278760

Human phenotypes related to Xeroderma Pigmentosum, Group F:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 tremor 32 HP:0001337
3 brain atrophy 32 HP:0012444
4 nystagmus 32 HP:0000639
5 intellectual disability 32 HP:0001249
6 scoliosis 32 HP:0002650
7 hearing impairment 32 HP:0000365
8 microcephaly 32 HP:0000252
9 short stature 32 HP:0004322
10 flexion contracture 32 HP:0001371
11 deeply set eye 32 HP:0000490
12 dementia 32 HP:0000726
13 neoplasm of the skin 32 HP:0008069
14 cutaneous photosensitivity 32 HP:0000992
15 papule 32 HP:0200034
16 decreased body weight 32 HP:0004325
17 astigmatism 32 HP:0000483
18 numerous pigmented freckles 32 HP:0007587
19 defective dna repair after ultraviolet radiation damage 32 HP:0003079

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 ERCC1 ERCC4 XRCC1 XRCC3 DDB2 EME1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 ERCC1 ERCC4 XRCC1 XRCC3 DDB2 EME1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.65 DDB2 EME1 ERCC1 ERCC2 ERCC4 OGG1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group F:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 KIF11
2 cellular MP:0005384 10.06 DDB2 ERCC1 ERCC2 ERCC4 OGG1 RAD23B
3 hematopoietic system MP:0005397 9.92 EME1 ERCC1 ERCC2 ERCC5 OGG1 SLX4
4 immune system MP:0005387 9.91 EME1 ERCC1 ERCC2 ERCC5 OGG1 RAD23B
5 mortality/aging MP:0010768 9.73 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 KIF11
6 integument MP:0010771 9.63 DDB2 ERCC1 ERCC2 ERCC5 RAD23B XPA
7 neoplasm MP:0002006 9.1 XPA XRCC1 DDB2 ERCC1 ERCC2 OGG1

Drugs & Therapeutics for Xeroderma Pigmentosum, Group F

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Group F

Genetic Tests for Xeroderma Pigmentosum, Group F

Genetic tests related to Xeroderma Pigmentosum, Group F:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group F 29
2 Xeroderma Pigmentosum, Type F/cockayne Syndrome 29

Anatomical Context for Xeroderma Pigmentosum, Group F

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

39
Skin, Eye, Brain

Publications for Xeroderma Pigmentosum, Group F

Articles related to Xeroderma Pigmentosum, Group F:

id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Group F:

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 ERCC4 p.Arg799Trp VAR_005850 rs121913049
2 ERCC4 p.Ile225Met VAR_008200 rs764731249
3 ERCC4 p.Arg454Trp VAR_008201
4 ERCC4 p.Arg490Gln VAR_008202
5 ERCC4 p.Glu502Lys VAR_008203
6 ERCC4 p.Gly513Arg VAR_008204 rs769679311
7 ERCC4 p.Ile529Thr VAR_008205
8 ERCC4 p.Thr567Ala VAR_008206
9 ERCC4 p.Leu608Pro VAR_013398
10 ERCC4 p.Cys236Arg VAR_070087 rs397509403
11 ERCC4 p.Arg589Trp VAR_070088 rs147105770

ClinVar genetic disease variations for Xeroderma Pigmentosum, Group F:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ERCC4 NM_005236.2(ERCC4): c.2304_2307delTCTC (p.Thr770Profs) deletion Pathogenic rs869025184 GRCh38 Chromosome 16, 13947900: 13947903
2 ERCC4 NM_005236.2(ERCC4): c.706T> C (p.Cys236Arg) single nucleotide variant Pathogenic rs397509403 GRCh37 Chromosome 16, 14022006: 14022006
3 ERCC4 NM_005236.2(ERCC4): c.1730dupA (p.Tyr577Terfs) duplication Pathogenic rs397509404 GRCh37 Chromosome 16, 14029519: 14029519
4 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Pathogenic rs147105770 GRCh37 Chromosome 16, 14029554: 14029554
5 ERCC4 NM_005236.2(ERCC4): c.915delA (p.Asn308Ilefs) deletion Likely pathogenic rs772432152 GRCh37 Chromosome 16, 14024689: 14024689

Expression for Xeroderma Pigmentosum, Group F

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Group F.

Pathways for Xeroderma Pigmentosum, Group F

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B
2
Show member pathways
12.47 ERCC1 ERCC2 ERCC4 ERCC5 OGG1 RAD23B
3
Show member pathways
12.41 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
4 12.22 DDB2 ERCC1 ERCC2 ERCC4 KIF11 RAD23B
5
Show member pathways
12.1 EME1 ERCC1 ERCC4 SLX4 XRCC3
6
Show member pathways
11.81 EME1 SLX4 XRCC3
7 11.71 EME1 ERCC1 ERCC4 SLX4
8
Show member pathways
11.56 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B
9 11.13 ERCC1 ERCC2 ERCC4 XPA
10
Show member pathways
10.97 ERCC1 ERCC4

GO Terms for Xeroderma Pigmentosum, Group F

Cellular components related to Xeroderma Pigmentosum, Group F according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
2 nuclear chromosome, telomeric region GO:0000784 9.65 ERCC1 ERCC4 SLX4 XRCC1 XRCC3
3 transcription factor TFIID complex GO:0005669 9.5 ERCC1 ERCC2 ERCC4
4 DNA replication factor A complex GO:0005662 9.48 ERCC5 XPA
5 holo TFIIH complex GO:0005675 9.46 ERCC2 ERCC5
6 Holliday junction resolvase complex GO:0048476 9.43 EME1 SLX4
7 nucleotide-excision repair complex GO:0000109 9.4 ERCC1 ERCC4
8 nucleotide-excision repair factor 1 complex GO:0000110 9.33 ERCC1 ERCC4 XPA
9 ERCC4-ERCC1 complex GO:0070522 8.92 ERCC1 ERCC4 SLX4 XRCC1
10 nucleus GO:0005634 10.15 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 transcription-coupled nucleotide-excision repair GO:0006283 9.95 ERCC1 ERCC2 ERCC4 ERCC5 XPA XRCC1
2 DNA repair GO:0006281 9.93 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
3 response to oxidative stress GO:0006979 9.92 ERCC1 ERCC2 OGG1 XPA
4 interstrand cross-link repair GO:0036297 9.92 EME1 ERCC1 ERCC4 SLX4 XRCC3
5 DNA recombination GO:0006310 9.91 EME1 ERCC1 SLX4 XRCC3
6 response to UV GO:0009411 9.91 DDB2 ERCC2 ERCC4 ERCC5 XPA
7 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.91 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
8 double-strand break repair via homologous recombination GO:0000724 9.9 ERCC4 SLX4 XRCC1 XRCC3
9 nucleotide-excision repair, preincision complex assembly GO:0006294 9.89 DDB2 ERCC2 ERCC5 RAD23B XPA
10 global genome nucleotide-excision repair GO:0070911 9.88 DDB2 ERCC1 ERCC2 ERCC4 RAD23B XPA
11 UV protection GO:0009650 9.85 ERCC1 ERCC2 ERCC4 ERCC5 XPA
12 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.85 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
13 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.84 DDB2 ERCC2 RAD23B XPA
14 multicellular organism growth GO:0035264 9.83 ERCC1 ERCC2 XPA
15 double-strand break repair via nonhomologous end joining GO:0006303 9.83 ERCC1 ERCC4 XRCC1
16 embryonic organ development GO:0048568 9.81 ERCC1 ERCC2 RAD23B
17 base-excision repair GO:0006284 9.8 OGG1 XPA XRCC1
18 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.8 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
19 nucleotide-excision repair, DNA damage recognition GO:0000715 9.78 DDB2 RAD23B XPA
20 resolution of meiotic recombination intermediates GO:0000712 9.77 EME1 ERCC4 SLX4
21 t-circle formation GO:0090656 9.76 ERCC1 SLX4 XRCC3
22 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.75 ERCC4 SLX4 XRCC3
23 UV-damage excision repair GO:0070914 9.74 DDB2 ERCC1 XPA
24 telomeric DNA-containing double minutes formation GO:0061819 9.73 ERCC1 ERCC4 XRCC1
25 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.72 ERCC1 ERCC4 XRCC1
26 positive regulation of t-circle formation GO:1904431 9.65 ERCC1 SLX4
27 negative regulation of telomere maintenance GO:0032205 9.64 ERCC1 ERCC4
28 response to intra-S DNA damage checkpoint signaling GO:0072429 9.64 EME1 SLX4
29 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.62 ERCC4 XPA
30 nucleotide-excision repair GO:0006289 9.61 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 OGG1
31 nucleotide-excision repair, DNA incision GO:0033683 9.17 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 OGG1
32 cellular response to DNA damage stimulus GO:0006974 10.03 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.73 EME1 ERCC1 ERCC4 ERCC5
2 single-stranded DNA binding GO:0003697 9.72 ERCC1 ERCC4 ERCC5 RAD23B XRCC3
3 protein C-terminus binding GO:0008022 9.7 ERCC1 ERCC2 ERCC4
4 protein N-terminus binding GO:0047485 9.67 ERCC2 ERCC4 ERCC5
5 endonuclease activity GO:0004519 9.65 EME1 ERCC1 ERCC4 ERCC5 OGG1
6 DNA-dependent ATPase activity GO:0008094 9.55 ERCC2 XRCC3
7 crossover junction endodeoxyribonuclease activity GO:0008821 9.54 EME1 SLX4 XRCC3
8 TFIID-class transcription factor binding GO:0001094 9.48 ERCC1 ERCC4
9 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.46 ERCC1 ERCC4
10 endodeoxyribonuclease activity GO:0004520 9.46 EME1 ERCC4 ERCC5 SLX4
11 damaged DNA binding GO:0003684 9.17 DDB2 ERCC1 ERCC4 OGG1 RAD23B XPA
12 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.13 ERCC1 ERCC4 XRCC1
13 protein binding GO:0005515 10.29 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
14 DNA binding GO:0003677 10.06 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
15 hydrolase activity GO:0016787 10.01 EME1 ERCC1 ERCC2 ERCC4 ERCC5 OGG1

Sources for Xeroderma Pigmentosum, Group F

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....