MCID: XRD021
MIFTS: 43

Xeroderma Pigmentosum, Complementation Group E

Categories: Genetic 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. Affiliated tissues include skin and brain, and related phenotypes are keratitis and conjunctivitis

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... 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 keratitis 32 HP:0000491
2 conjunctivitis 32 HP:0000509
3 photophobia 32 HP:0000613
4 entropion 32 HP:0000621
5 ectropion 32 HP:0000656
6 cutaneous photosensitivity 32 HP:0000992
7 telangiectasia 32 HP:0001009
8 poikiloderma 32 HP:0001029
9 basal cell carcinoma 32 HP:0002671
10 melanoma 32 HP:0002861
11 defective dna repair after ultraviolet radiation damage 32 HP:0003079
12 dermal atrophy 32 HP:0004334
13 squamous cell carcinoma of the skin 32 HP:0006739

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 GPS1 COPS4 COPS2
2 Decreased OCT4 protein expression GR00184-A-5 10.53 GPS1 COPS4 COPS2
3 Decreased OCT4 protein expression GR00184-A-7 10.53 GPS1 COPS4 COPS2
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 GPS1 RBX1 COPS5 COPS8
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 RBX1 ERCC5 COPS2 COPS5 COPS6 COPS8
18 Decreased NANOG protein expression GR00184-A-3 9.91 GPS1 COPS4
19 Decreased NANOG protein expression GR00184-A-6 9.91 COPS4
20 Decreased NANOG protein expression GR00184-A-8 9.91 GPS1 COPS2 COPS4
21 Decreased POU5F1-GFP protein expression GR00184-A-1 9.85 GPS1 COPS4 COPS2
22 Decreased POU5F1-GFP protein expression GR00184-A-4 9.85 GPS1 COPS4 COPS2
23 Increased G1 length, increased G2 length GR00237-A 9.43 DDB1 DDB2 CUL4A
24 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.35 XPA XPC DDB2 ERCC5 DDB1
25 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 9.02 DDB2 COPS5 COPS6 COPS8 DDB1

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 ERCC5 GPS1 XPA COPS3 COPS4 XPC
2 hematopoietic system MP:0005397 9.76 ERCC5 GPS1 XPA COPS4 COPS5 COPS6
3 mortality/aging MP:0010768 9.7 ERCC5 GPS1 XPA COPS3 XPC COPS5
4 neoplasm MP:0002006 9.02 DDB2 XPA XPC COPS6 CUL4A

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group E

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 protein (XPE/DDB2): purification of various complexes of XPE and analyses of their damaged DNA binding and putative DNA repair properties. ( 16260596 )
2005
2
Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein. ( 12509284 )
2002

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 cullin-RING ubiquitin ligase complex GO:0031461 9.58 CUL4A DDB1 RBX1
3 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.5 CUL4A DDB1 RBX1
4 DNA replication factor A complex GO:0005662 9.46 ERCC5 XPA
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 COP9 signalosome GO:0008180 9.23 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
8 cytoplasm GO:0005737 10.21 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
9 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 23)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 9.97 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
2 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.95 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
3 global genome nucleotide-excision repair GO:0070911 9.93 CUL4A DDB1 DDB2 RBX1 XPA XPC
4 post-translational protein modification GO:0043687 9.93 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
5 nucleotide-excision repair GO:0006289 9.92 DDB1 DDB2 ERCC5 XPA XPC
6 viral process GO:0016032 9.91 COPS6 CUL4A DDB1 RBX1
7 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.91 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
8 nucleotide-excision repair, DNA duplex unwinding GO:0000717 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 9.81 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 9.74 DDB2 ERCC5 XPA
13 DNA damage response, detection of DNA damage GO:0042769 9.73 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 auditory stimulus GO:0010996 9.58 XPA XPC
17 regulation of mitotic cell cycle phase transition GO:1901990 9.58 DDB1 XPC
18 protein deneddylation GO:0000338 9.56 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
19 nucleotide-excision repair, preincision complex assembly GO:0006294 9.17 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
20 nucleotide-excision repair, DNA damage recognition GO:0000715 10.17 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A
21 cellular response to DNA damage stimulus GO:0006974 10.09 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
22 DNA repair GO:0006281 10.08 CUL4A DDB1 DDB2 ERCC5 RBX1 XPA
23 transcription-coupled nucleotide-excision repair GO:0006283 10.07 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A

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 cullin family protein binding GO:0097602 9.32 DDB1 RBX1
3 NEDD8-specific protease activity GO:0019784 9.26 COPS4 COPS5
4 bubble DNA binding GO:0000405 9.16 ERCC5 XPC
5 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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