XPB
MCID: XRD013
MIFTS: 35

Xeroderma Pigmentosum, Group B (XPB) malady

Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Xeroderma Pigmentosum, Group B

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46OMIM, 32MalaCards
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MalaCards: Xeroderma Pigmentosum, Group B, also known as xeroderma pigmentosum complementation group b, is related to xeroderma pigmentosum and cockayne syndrome. An important gene associated with Xeroderma Pigmentosum, Group B is ERCC3 (excision repair cross-complementing rodent repair deficiency, complementation group 3), and among its related pathways are Global Genomic NER (GG-NER) and RNA Polymerase I Chain Elongation. The compounds phosphodiester and melphalan have been mentioned in the context of this disorder. Affiliated tissues include eye and skin.

Description from OMIM:46 610651

Aliases & Classifications for Xeroderma Pigmentosum, Group B

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46OMIM, 60UMLS, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
xeroderma pigmentosum complementation group b:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

xeroderma pigmentosum, group b 46 60
xeroderma pigmentosum complementation group b 48
xpb 48


External Ids:

SNOMED-CT via Orphanet57 1073003
OMIM46 610651
ICD10 via Orphanet26 Q82.1

Related Diseases for Xeroderma Pigmentosum, Group B

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Xeroderma Pigmentosum, Group B:



Diseases related to xeroderma pigmentosum, group b

Clinical Features for Xeroderma Pigmentosum, Group B

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46OMIM
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Clinical features from OMIM:

610651

Clinical synopsis from OMIM:

610651

Drugs & Therapeutics for Xeroderma Pigmentosum, Group B

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Xeroderma Pigmentosum, Group B

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Genetic Tests for Xeroderma Pigmentosum, Group B

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Anatomical Context for Xeroderma Pigmentosum, Group B

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32MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group B:

32
Eye, Skin

Animal Models for Xeroderma Pigmentosum, Group B or affiliated genes

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Publications for Xeroderma Pigmentosum, Group B

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Genetic Variations for Xeroderma Pigmentosum, Group B

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Xeroderma Pigmentosum, Group B:

62
id Symbol AA change Variation ID SNP ID
1ERCC3p.Phe99SerVAR_003632

Expression for genes affiliated with Xeroderma Pigmentosum, Group B

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group B

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

Pathways for genes affiliated with Xeroderma Pigmentosum, Group B

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53Reactome, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology, 51QIAGEN, 37NCBI BioSystems Database
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Pathways related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.3ERCC2, ERCC3
2
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9.3ERCC2, ERCC3
3
Transcription P53 signaling pathway
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9.3ERCC3, ERCC2
49.3ERCC2, ERCC3
5
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9.3ERCC2, ERCC3
6
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8.8POLR2L, ERCC2, ERCC3
7
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8.8POLR2L, ERCC3, ERCC2
8
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8.8ERCC2, ERCC3, POLR2L
9
Hide members
8.8ERCC2, ERCC3, POLR2L
10
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
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8.8ERCC2, ERCC3, POLR2L
11
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8.8ERCC2, ERCC3, POLR2L
12
Hide members
8.8ERCC2, POLR2L, ERCC3
13
Hide members
8.8ERCC2, POLR2L, ERCC3
14
Hide members
8.8ERCC2, POLR2L, ERCC3
158.0BCR, POLR2L, ERCC3, ERCC2

Compounds for genes affiliated with Xeroderma Pigmentosum, Group B

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphodiester449.6POLR2L, ERCC3
2melphalan44 1110.4ERCC3, ERCC2
3thymidylate449.3POLR2L, ERCC2
4phosphoserine44 2410.2POLR2L, BCR
5cyclophosphamide44 49 1111.0BCR, ERCC2
6cytochalasin d44 5910.0POLR2L, BCR
7cisplatin44 49 59 1112.0ERCC2, ERCC3, POLR2L
8atp44 289.3POLR2L, ERCC3, BCR

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group B

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16Gene Ontology
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Cellular components related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SSL2-core TFIIH complexGO:0004419.2ERCC2, ERCC3
2holo TFIIH complexGO:0056759.0ERCC2, ERCC3
3nucleoplasmGO:0056548.8ERCC2, ERCC3, POLR2L

Biological processes related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic cell cycle phase transitionGO:19019909.6ERCC2, ERCC3
2nucleotide-excision repair, DNA incisionGO:0336839.6ERCC2, ERCC3
3hair cell differentiationGO:0353159.6ERCC2, ERCC3
4UV protectionGO:0096509.6ERCC3, ERCC2
5transcription elongation from RNA polymerase I promoterGO:0063629.6ERCC3, ERCC2
6nucleotide-excision repair, DNA damage removalGO:0007189.6ERCC2, ERCC3
7termination of RNA polymerase I transcriptionGO:0063639.5ERCC2, ERCC3
8transcription initiation from RNA polymerase I promoterGO:0063619.5ERCC3, ERCC2
9transcription from RNA polymerase I promoterGO:0063609.4ERCC3, ERCC2
10response to hypoxiaGO:0016669.3ERCC3, ERCC2
117-methylguanosine mRNA cappingGO:0063709.2ERCC3, ERCC2, POLR2L
12positive regulation of viral transcriptionGO:0504349.1POLR2L, ERCC3, ERCC2
13transcription-coupled nucleotide-excision repairGO:0062839.1POLR2L, ERCC3, ERCC2
14transcription elongation from RNA polymerase II promoterGO:0063689.1ERCC3, POLR2L, ERCC2
15nucleotide-excision repairGO:0062899.1ERCC2, ERCC3, POLR2L
16transcription initiation from RNA polymerase II promoterGO:0063679.1POLR2L, ERCC3, ERCC2
17response to oxidative stressGO:0069799.0ERCC3, ERCC2
18DNA repairGO:0062819.0ERCC3, POLR2L, ERCC2
19viral processGO:0160328.9POLR2L, ERCC3, ERCC2
20transcription from RNA polymerase II promoterGO:0063668.8POLR2L, ERCC3, ERCC2
21gene expressionGO:0104678.7ERCC3, ERCC2, POLR2L

Molecular functions related to Xeroderma Pigmentosum, Group B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II carboxy-terminal domain kinase activityGO:0083539.4ERCC3, ERCC2
2ATP-dependent DNA helicase activityGO:0040039.4ERCC2, ERCC3
3DNA-dependent ATPase activityGO:0080949.3ERCC3, ERCC2
4protein kinase activityGO:0046729.3ERCC3, ERCC2
5protein N-terminus bindingGO:0474859.2ERCC2, ERCC3
6protein C-terminus bindingGO:0080229.0ERCC3, ERCC2

Products for genes affiliated with Xeroderma Pigmentosum, Group B

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Sources for Xeroderma Pigmentosum, Group B

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet