XP-E
MCID: XRD021
MIFTS: 44

Xeroderma Pigmentosum, Complementation Group E (XP-E)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group E

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group E:

Name: Xeroderma Pigmentosum, Complementation Group E 57 55 40 73
Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype 57 13
Xeroderma Pigmentosum, Type 5 76 53
Xeroderma Pigmentosum V 57 75
Xp5 57 75
Xeroderma Pigmentosum Complementation Group E 75
Xeroderma Pigmentosum V; Xp5 57
Xp, Group E 57
Xp Group E 75
Xp-E 75
Xpe 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
xeroderma pigmentosum, complementation group e:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group E

UniProtKB/Swiss-Prot : 75 Xeroderma pigmentosum complementation group E: 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-E patients show a mild phenotype with minimal or no neurologic features.

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group E, also known as xeroderma pigmentosum, group e, ddb-negative subtype, is related to xeroderma pigmentosum group e and xeroderma pigmentosum, variant type. An important gene associated with Xeroderma Pigmentosum, Complementation Group E is DDB2 (Damage Specific DNA Binding Protein 2), and among its related pathways/superpathways are Vesicle-mediated transport and DNA Double-Strand Break Repair. The drugs Abstral and Aredia have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are photophobia and melanoma

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder (autosomal recessive) in which there is a decreased... more...

Description from OMIM: 278740

Related Diseases for Xeroderma Pigmentosum, Complementation Group E

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Complementation Group E:



Diseases related to Xeroderma Pigmentosum, Complementation Group E

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group E

Symptoms via clinical synopsis from OMIM:

57
Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion

Lab:
defective dna repair after ultraviolet radiation damage

Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Misc:
mild xp features
minimal or no neurologic features


Clinical features from OMIM:

278740

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group E:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 melanoma 32 HP:0002861
3 keratitis 32 HP:0000491
4 conjunctivitis 32 HP:0000509
5 cutaneous photosensitivity 32 HP:0000992
6 ectropion 32 HP:0000656
7 squamous cell carcinoma of the skin 32 HP:0006739
8 telangiectasia 32 HP:0001009
9 poikiloderma 32 HP:0001029
10 entropion 32 HP:0000621
11 dermal atrophy 32 HP:0004334
12 basal cell carcinoma 32 HP:0002671
13 defective dna repair after ultraviolet radiation damage 32 HP:0003079

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

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased OCT4 protein expression GR00184-A-2 10.53 COPS2 COPS4 GPS1
2 Decreased OCT4 protein expression GR00184-A-5 10.53 COPS2 COPS4 GPS1
3 Decreased OCT4 protein expression GR00184-A-7 10.53 COPS2 COPS4 GPS1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.06 COPS5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.06 COPS5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.06 COPS5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.06 COPS8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.06 GPS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.06 COPS5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.06 GPS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.06 COPS5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.06 GPS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.06 COPS5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.06 COPS5 COPS8 GPS1 RBX1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.06 COPS5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.06 GPS1
17 Increased cell death HMECs cells GR00103-A-0 9.97 COPS2 COPS3 COPS4 COPS5 COPS6 COPS8
18 Decreased NANOG protein expression GR00184-A-3 9.91 COPS4 GPS1
19 Decreased NANOG protein expression GR00184-A-6 9.91 COPS4
20 Decreased NANOG protein expression GR00184-A-8 9.91 COPS2 COPS4 GPS1
21 Decreased POU5F1-GFP protein expression GR00184-A-1 9.85 COPS2 COPS4 GPS1
22 Decreased POU5F1-GFP protein expression GR00184-A-4 9.85 COPS2 COPS4 GPS1
23 Increased G1 length, increased G2 length GR00237-A 9.43 CUL4A DDB1 DDB2
24 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.35 DDB1 DDB2 ERCC5 XPA XPC
25 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 9.02 COPS5 COPS6 COPS8 DDB1 DDB2

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Complementation Group E:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 COPS3 COPS4 COPS5 COPS6 COPS8 CUL4A
2 hematopoietic system MP:0005397 9.76 COPS4 COPS5 COPS6 COPS8 CUL4A ERCC5
3 mortality/aging MP:0010768 9.7 COPS3 COPS5 COPS6 COPS8 CUL4A DDB1
4 neoplasm MP:0002006 9.02 COPS6 CUL4A DDB2 XPA XPC

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group E

FDA approved drugs:

(show top 50) (show all 53)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abstral 18 FENTANYL (citrate) ProStrakan January 2011
2
Aredia 18 49 PAMIDRONATE DISODIUM Chiron August 1996
3
Aromasin Tablets 18 49 EXEMESTANE Pharmacia & Upjohn October 21. 1999
4
Busulfex 18 49 BUSULFAN Orphan Medical February 1999
5
Campostar 18 49 IRINOTECAN HYDROCHLORIDE Pharmacia & Upjohn June 1996
6
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
7
Cyramza 18 49 RAMUCIRUMAB Eli Lilly April 2014
8
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
9
Elitek 18 49 RASBURICASE sanofi-aventis October 2009
10
Ellence 18 49 EPIRUBICIN HYDROCHLORIDE Pharmacia & Upjohn September 1999
11
Erbitux 18 49 CETUXIMAB Imclone, Bristol-Myers Squibb February 2004
12
Ethyol 18 AMIFOSTINE Alza December 8, 1995
13
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
14
Halaven 18 49 ERIBULIN MESYLATE Eisai November 2010
15
Hycamtin 18 49 TOPOTECAN HYDROCHLORIDE GlaxoSmithKline/ SmithKline Beecham October 2007/May 1996
16
Intron A 18 49 INTERFERON ALFA-2B Schering-Plough December 1997/ December 1995/ March 1997
17
Jevtana 18 49 CABAZITAXEL sanofi aventis June 2010
18
Mylotarg 18 49 GEMTUZUMAB OZOGAMICIN Wyeth May 2000
19
Neumega 18 OPRELVEKIN Genetics Institute November 1997
20
Nexavar 18 49 SORAFENIB TOSYLATE Bayer/Onyx December 2005
21
Onsolis 18 FENTANYL CITRATE BioDelivery Sciences July 2009
22
Perjeta 18 49 PERTUZUMAB Genentech June 2012
23
Proleukin 18 49 ALDESLEUKIN Chiron January 1998
24
Quadramet 18 SAMARIUM SM-153 LEXIDRONAM PENTASODIUM DuPont Merck Pharmaceutical Company March 1997
25
Sensipar 18 CINACALCET HYDROCHLORIDE Amgen March 2004
26
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
27
Tarceva 18 49 ERLOTINIB HYDROCHLORIDE Genentech, OSI Pharmaceuticals November, 2004
28
Temodar 18 49 TEMOZOLOMIDE Schering-Plough August 1999
29
Tykerb 18 49 LAPATINIB DITOSYLATE GlaxoSmithKline March 2007
30
Vectibix 18 49 PANITUMUMAB Amgen September 2006
31
Velcade 18 49 BORTEZOMIB Millennium Pharmaceuticals May 2003
32
Viadur 18 49 LEUPROLIDE ACETATE Alza March 2000
33
Votrient 18 49 PAZOPANIB HYDROCHLORIDE GlaxoSmithKline April 2012/ October of 2009
34
Xgeva 18 49 DENOSUMAB Amgen June 2013/ November 2010
35
Zevalin 18 49 IBRITUMOMAB TIUXETAN Biogen IDEC February 2002
36
Alecensa 18 ALECTINIB HYDROCHLORIDE Roche December 2015
37
Allegra 18 FEXOFENADINE HYDROCHLORIDE Hoechst Marion Roussel July 1996
38
Alvesco 18 CICLESONIDE Nycomed January 2008
39
Augmentin 18 AMOXICILLIN; CLAVULANATE POTASSIUM SmithKline Beecham February 1996
40
Cedax 18 CEFTIBUTEN DIHYDRATE Schering-Plough December 1995
41
Cefazolin and Dextrose USP 18 CEFAZOLIN SODIUM B Braun Medical July 2000
42
Claritin-D 24 Hour Extended Release Tablets 18 LORATADINE; PSEUDOEPHEDRINE SULFATE Schering-Plough August 1996
43
Grastek 18 Timothy Grass Pollen Allergen Extract Merck April 2014
44
Ketek 18 TELITHROMYCIN Sanofi-aventis April 2004
45
Nucala 18 MEPOLIZUMAB GlaxoSmithKline November 2015
46
Opdivo 18 NIVOLUMAB Bristol-Myers Squibb March 2015
47
Oralair 18 Greer Labs April 2014
48
Ragwitek 18 Merck April 2014
49
Remodulin 18 TREPROSTINIL United Therapeutics May 2002
50
Tikosyn Capsules 18 DOFETILIDE Pfizer October 1999

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group E

Genetic Tests for Xeroderma Pigmentosum, Complementation Group E

Anatomical Context for Xeroderma Pigmentosum, Complementation Group E

MalaCards organs/tissues related to Xeroderma Pigmentosum, Complementation Group E:

41
Skin, Brain

Publications for Xeroderma Pigmentosum, Complementation Group E

Articles related to Xeroderma Pigmentosum, Complementation Group E:

# Title Authors Year
1
Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein. ( 12509284 )
2002
2
Functional complementation of xeroderma pigmentosum complementation group E by replication protein A in an in vitro system. ( 8643521 )
1996
3
Biochemical heterogeneity in xeroderma pigmentosum complementation group E. ( 1376435 )
1992

Variations for Xeroderma Pigmentosum, Complementation Group E

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

75
# Symbol AA change Variation ID SNP ID
1 DDB2 p.Lys244Glu VAR_010141 rs121434639
2 DDB2 p.Arg273His VAR_010142 rs121434640

ClinVar genetic disease variations for Xeroderma Pigmentosum, Complementation Group E:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DDB2 NM_000107.2(DDB2): c.730A> G (p.Lys244Glu) single nucleotide variant Pathogenic rs121434639 GRCh37 Chromosome 11, 47256335: 47256335
2 DDB2 NM_000107.2(DDB2): c.730A> G (p.Lys244Glu) single nucleotide variant Pathogenic rs121434639 GRCh38 Chromosome 11, 47234784: 47234784
3 DDB2 NM_000107.2(DDB2): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic rs121434640 GRCh37 Chromosome 11, 47256423: 47256423
4 DDB2 NM_000107.2(DDB2): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic rs121434640 GRCh38 Chromosome 11, 47234872: 47234872
5 DDB2 NM_000107.2(DDB2): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic rs121434641 GRCh37 Chromosome 11, 47256877: 47256877
6 DDB2 NM_000107.2(DDB2): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic rs121434641 GRCh38 Chromosome 11, 47235326: 47235326
7 DDB2 NM_000107.2(DDB2): c.919G> T (p.Asp307Tyr) single nucleotide variant Pathogenic rs121434642 GRCh37 Chromosome 11, 47256859: 47256859
8 DDB2 NM_000107.2(DDB2): c.919G> T (p.Asp307Tyr) single nucleotide variant Pathogenic rs121434642 GRCh38 Chromosome 11, 47235308: 47235308

Expression for Xeroderma Pigmentosum, Complementation Group E

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

Pathways for Xeroderma Pigmentosum, Complementation Group E

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
2
Show member pathways
12.83 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
3 12.24 COPS5 DDB1 DDB2 XPA XPC
4
Show member pathways
12.23 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
5
Show member pathways
12.23 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
6
Show member pathways
11.92 CUL4A DDB1 RBX1
7 11.84 CUL4A DDB1 DDB2 RBX1
8
Show member pathways
11.76 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
9 10.61 COPS5 RBX1

GO Terms for Xeroderma Pigmentosum, Complementation Group E

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.83 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
2 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.5 CUL4A DDB1 RBX1
3 DNA replication factor A complex GO:0005662 9.48 ERCC5 XPA
4 cullin-RING ubiquitin ligase complex GO:0031461 9.46 CUL4A RBX1
5 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.46 CUL4A DDB1 DDB2 RBX1
6 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.43 DDB1 DDB2 RBX1
7 nucleotide-excision repair complex GO:0000109 9.4 ERCC5 XPC
8 COP9 signalosome GO:0008180 9.23 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
9 cytoplasm GO:0005737 10.21 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
10 nucleus GO:0005634 10.21 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 9.93 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
2 post-translational protein modification GO:0043687 9.93 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
3 protein ubiquitination GO:0016567 9.92 CUL4A DDB1 DDB2 RBX1
4 viral process GO:0016032 9.91 COPS6 CUL4A DDB1 RBX1
5 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.91 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
6 ubiquitin-dependent protein catabolic process GO:0006511 9.88 COPS3 CUL4A DDB1 RBX1
7 nucleotide-excision repair GO:0006289 9.88 DDB1 DDB2 ERCC5 XPA XPC
8 global genome nucleotide-excision repair GO:0070911 9.88 CUL4A DDB1 DDB2 RBX1 XPA XPC
9 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.85 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
10 UV-damage excision repair GO:0070914 9.8 DDB1 DDB2 XPA XPC
11 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.79 CUL4A DDB1 RBX1
12 response to UV GO:0009411 9.72 DDB2 ERCC5 XPA
13 DNA damage response, detection of DNA damage GO:0042769 9.71 CUL4A DDB1 RBX1
14 UV protection GO:0009650 9.6 ERCC5 XPA
15 histone H2A monoubiquitination GO:0035518 9.59 DDB1 DDB2
16 response to UV-B GO:0010224 9.58 DDB2 XPC
17 response to auditory stimulus GO:0010996 9.57 XPA XPC
18 regulation of mitotic cell cycle phase transition GO:1901990 9.56 DDB1 XPC
19 protein deneddylation GO:0000338 9.56 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
20 nucleotide-excision repair, preincision complex assembly GO:0006294 9.17 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
21 nucleotide-excision repair, DNA damage recognition GO:0000715 10.17 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
22 cellular response to DNA damage stimulus GO:0006974 10.07 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
23 transcription-coupled nucleotide-excision repair GO:0006283 10.07 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
24 DNA repair GO:0006281 10.05 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
2 protein-containing complex binding GO:0044877 9.55 DDB1 DDB2 ERCC5 RBX1 XPC
3 cullin family protein binding GO:0097602 9.37 DDB1 RBX1
4 bubble DNA binding GO:0000405 9.32 ERCC5 XPC
5 NEDD8-specific protease activity GO:0019784 9.26 COPS4 COPS5
6 damaged DNA binding GO:0003684 8.92 DDB1 DDB2 XPA XPC

Sources for Xeroderma Pigmentosum, Complementation Group E

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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