MCID: XRD013
MIFTS: 53

Xeroderma Pigmentosum, Group B

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group B

MalaCards integrated aliases for Xeroderma Pigmentosum, Group B:

Name: Xeroderma Pigmentosum, Group B 54 13 69
Xeroderma Pigmentosum Group B 12 14
Xp Group B 12 71
Xeroderma Pigmentosum Group B with Cockayne Syndrome 71
Xeroderma Pigmentosum, Complementation Group B 29
Xeroderma Pigmentosum Complementation Group B 71
Xeroderma Pigmentosum Ii 71
Xp-B/cs 71
Xpbc 12
Xp-B 71
Xpb 12
Xp2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
xeroderma pigmentosum, group b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Group B

UniProtKB/Swiss-Prot : 71 Xeroderma pigmentosum complementation group B: 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. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.

MalaCards based summary : Xeroderma Pigmentosum, Group B, also known as xeroderma pigmentosum group b, is related to xeroderma pigmentosum, group a and hsd10 mitochondrial disease, and has symptoms including short stature, optic atrophy and ataxia. An important gene associated with Xeroderma Pigmentosum, Group B is ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Formation of HIV elongation complex in the absence of HIV Tat. The drugs Baclofen and Arbaclofen placarbil have been mentioned in the context of this disorder. Affiliated tissues include skin and spinal cord, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and behavior/neurological

OMIM : 54
For a general discussion of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Cleaver (1990) provided a review of the causes of xeroderma pigmentosum. (610651)

Disease Ontology : 12 A xeroderma pigmentosum characterized by that has material basis in mutation in the ERCC3 gene on chromosome 2q14.

Related Diseases for Xeroderma Pigmentosum, Group B

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



Diseases related to Xeroderma Pigmentosum, Group B

Symptoms & Phenotypes for Xeroderma Pigmentosum, Group B

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
optic atrophy
cataracts
pigmentary retinopathy
microphthalmia

Head And Neck- Head:
microcephaly

Neoplasia:
basal cell carcinoma
melanoma
squamous cell carcinoma
increased risk of malignancy

Head And Neck- Ears:
sensorineural deafness

Head And Neck- Face:
wizened face

Neurologic- Central Nervous System:
mental retardation
ataxia
cerebellar atrophy
enlarged cerebral ventricles
abnormal myelination
more
Neurologic- Peripheral Nervous System:
hyperreflexia
decreased nerve conduction velocity

Skin Nails & Hair- Skin:
photosensitivity
abnormal pigmentation
freckling
atrophic skin

Endocrine Features:
hypogonadism

Growth- Weight:
cachectic appearance

Laboratory- Abnormalities:
decreased dna excision repair
increased cellular sensitivity to uv light


Clinical features from OMIM:

610651

Human phenotypes related to Xeroderma Pigmentosum, Group B:

32 (show all 24)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 optic atrophy 32 HP:0000648
3 ataxia 32 HP:0001251
4 ventriculomegaly 32 HP:0002119
5 hyperreflexia 32 HP:0001347
6 microcephaly 32 HP:0000252
7 pigmentary retinopathy 32 HP:0000580
8 microphthalmia 32 HP:0000568
9 basal cell carcinoma 32 HP:0002671
10 intellectual disability 32 HP:0001249
11 cataract 32 HP:0000518
12 cerebellar atrophy 32 HP:0001272
13 hypogonadism 32 HP:0000135
14 freckling 32 HP:0001480
15 decreased nerve conduction velocity 32 HP:0000762
16 increased cellular sensitivity to uv light 32 HP:0003224
17 basal ganglia calcification 32 HP:0002135
18 sensorineural hearing impairment 32 HP:0000407
19 cutaneous melanoma 32 HP:0012056
20 squamous cell carcinoma of the skin 32 HP:0006739
21 cutaneous photosensitivity 32 HP:0000992
22 progeroid facial appearance 32 HP:0005328
23 dermal atrophy 32 HP:0004334
24 abnormal cns myelination 32 HP:0011400

UMLS symptoms related to Xeroderma Pigmentosum, Group B:


ataxia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group B:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 BCR ERCC1 ERCC2 ERCC3 HELLS MCF2
2 adipose tissue MP:0005375 9.55 ERCC1 ERCC2 HELLS RAD23B XPA
3 integument MP:0010771 9.1 ERCC1 ERCC2 ERCC3 HELLS RAD23B XPA

Drugs & Therapeutics for Xeroderma Pigmentosum, Group B

Drugs for Xeroderma Pigmentosum, Group B (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 3,Phase 2 1134-47-0 2284
2 Arbaclofen placarbil Investigational Phase 3,Phase 2 847353-30-4
3 GABA Agents Phase 3,Phase 2
4 GABA Agonists Phase 3,Phase 2
5 GABA-B Receptor Agonists Phase 3,Phase 2
6 Neuromuscular Agents Phase 3,Phase 2
7 Neurotransmitter Agents Phase 3,Phase 2
8 Peripheral Nervous System Agents Phase 3,Phase 2
9
Pantoprazole Approved Phase 2 102625-70-7 4679
10
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
11
Lansoprazole Approved, Investigational Phase 2 103577-45-3 3883
12
Rabeprazole Approved, Investigational Phase 2 117976-89-3 5029
13
Esomeprazole Approved, Investigational Phase 2 161796-78-7, 119141-88-7 4594 9579578
14
Dexlansoprazole Approved Phase 2 138530-94-6, 103577-45-3 9578005
15
Proton pump inhibitors Phase 2
16 Gastrointestinal Agents Phase 2
17 Antacids Phase 2
18 Anti-Ulcer Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Arbaclofen Placarbil in Subjects With Spasticity Due to Multiple Sclerosis Completed NCT01359566 Phase 3 Arbaclofen placarbil 15 mg BID;Placebo;Arbaclofen placarbil 30 mg BID;Arbaclofen placarbil 45 mg BID
2 A Study to Evaluate the Efficacy and Safety of Arbaclofen Placarbil (XP19986) as Adjunctive Therapy in Subjects With Gastroesophageal Reflux Disease (GERD) Completed NCT00978016 Phase 2 arbaclofen placarbil-Cohort 1;Placebo-Cohort 5;arbaclofen placarbil-Cohort 2;arbaclofen placarbil-Cohort 3;arbaclofen placarbil-Cohort 4;PPI
3 A Study to Evaluate the Efficacy and Safety of Controlled Release Arbaclofen Placarbil (XP19986) in Patients With Gastroesophageal Reflux Disease Completed NCT00838396 Phase 2 XP19986 CR;Placebo for XP19986 CR
4 A Study to Evaluate the Safety and Tolerability of Arbaclofen Placarbil (XP19986) in Subjects With Acute Back Spasms Completed NCT00817986 Phase 2 Arbaclofen placarbil, 20 mg;Placebo;Arbaclofen placarbil, 30 mg;Arbaclofen placarbil, 40 mg
5 A Safety and Efficacy Study of XP19986 in Subjects With Spasticity Due to Spinal Cord Injury Completed NCT00557973 Phase 2 XP19986 SR1, 10 mg BID;XP19986 SR1, 20 mg BID;XP19986 SR1, 30 mg BID;Placebo
6 An Efficacy and Safety Study of XP19986 in Subjects With Symptomatic GERD Completed NCT00557401 Phase 2 XP19986 SR3, 20 mg QD;XP19986 SR3, 40 mg QD;XP19986 SR3, 60 mg QD;XP19986 SR3, 30 mg BID;Placebo

Search NIH Clinical Center for Xeroderma Pigmentosum, Group B

Genetic Tests for Xeroderma Pigmentosum, Group B

Genetic tests related to Xeroderma Pigmentosum, Group B:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Complementation Group B 29

Anatomical Context for Xeroderma Pigmentosum, Group B

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

39
Skin, Spinal Cord

Publications for Xeroderma Pigmentosum, Group B

Articles related to Xeroderma Pigmentosum, Group B:

id Title Authors Year
1
Loss of the xeroderma pigmentosum group B protein binding site impairs p210 BCR/ABL1 leukemogenic activity. ( 23955590 )
2013
2
The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein. ( 9874796 )
1999
3
BCR binds to the xeroderma pigmentosum group B protein. ( 10403766 )
1999
4
Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay. ( 9427533 )
1997
5
A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. ( 8663148 )
1996
6
Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21. ( 1916809 )
1991

Variations for Xeroderma Pigmentosum, Group B

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

71
id Symbol AA change Variation ID SNP ID
1 ERCC3 p.Phe99Ser VAR_003632 rs121913045

ClinVar genetic disease variations for Xeroderma Pigmentosum, Group B:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ERCC3 ERCC3, IVS14AS, C-A, -6 single nucleotide variant Pathogenic
2 ERCC3 NM_000122.1(ERCC3): c.296T> C (p.Phe99Ser) single nucleotide variant Pathogenic rs121913045 GRCh37 Chromosome 2, 128050361: 128050361
3 ERCC3 NM_000122.1(ERCC3): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs121913047 GRCh37 Chromosome 2, 128044348: 128044348
4 ERCC3 ERCC3, 2-BP DEL, 807TT deletion Pathogenic
5 ERCC3 ERCC3, 1-BP INS, 1421A insertion Pathogenic
6 ERCC3 NM_000122.1(ERCC3): c.1633C> T (p.Gln545Ter) single nucleotide variant Pathogenic rs121913048 GRCh37 Chromosome 2, 128036846: 128036846
7 ERCC3 ERCC3, IVS3DS, G-A, +1 single nucleotide variant Pathogenic

Expression for Xeroderma Pigmentosum, Group B

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

Pathways for Xeroderma Pigmentosum, Group B

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

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
2
Show member pathways
12.89 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
3
Show member pathways
12.77 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
4
Show member pathways
12.71 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
5
Show member pathways
12.49 ERCC1 ERCC2 ERCC3 GTF2H1 RAD23B XPA
6
Show member pathways
12.38 CDC42 GTF2H1 GTF2H4 GTF2H5
7 12.32 ERCC1 ERCC2 ERCC3 RAD23B XPA
8
Show member pathways
12.29 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
9
Show member pathways
12.21 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
10 12.05 CDC42 GTF2H1 GTF2H4
11
Show member pathways
11.76 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
12 11.72 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5 XPA
13
Show member pathways
11.29 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
14 11.17 BCR MCF2
15 11.16 BCR CDC42 MCF2
16 11.02 CDC42 MCF2
17 11.02 ERCC1 ERCC2 ERCC3 XPA
18 10.96 GTF2H1 GTF2H4 GTF2H5

GO Terms for Xeroderma Pigmentosum, Group B

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.92 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
2 holo TFIIH complex GO:0005675 9.46 ERCC2 ERCC3 GTF2H1 GTF2H4
3 transcription factor TFIID complex GO:0005669 9.35 ERCC1 ERCC2 ERCC3 GTF2H4 GTF2H5
4 nucleotide-excision repair factor 1 complex GO:0000110 9.26 ERCC1 XPA
5 core TFIIH complex GO:0000439 9.02 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5

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

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.98 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
2 transcription elongation from RNA polymerase II promoter GO:0006368 9.97 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
3 transcription initiation from RNA polymerase I promoter GO:0006361 9.93 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
4 7-methylguanosine mRNA capping GO:0006370 9.92 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
5 transcription elongation from RNA polymerase I promoter GO:0006362 9.91 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
6 nucleotide-excision repair, DNA incision GO:0033683 9.91 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
7 response to oxidative stress GO:0006979 9.9 ERCC1 ERCC2 ERCC3 XPA
8 multicellular organism growth GO:0035264 9.89 CDC42 ERCC1 ERCC2 XPA
9 termination of RNA polymerase I transcription GO:0006363 9.89 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
10 embryonic organ development GO:0048568 9.88 ERCC1 ERCC2 ERCC3 RAD23B
11 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.87 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
12 UV protection GO:0009650 9.86 ERCC1 ERCC2 ERCC3 XPA
13 regulation of small GTPase mediated signal transduction GO:0051056 9.81 BCR CDC42 MCF2
14 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.8 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
15 response to UV GO:0009411 9.78 ERCC2 ERCC3 XPA
16 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.7 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
17 nucleotide-excision repair, DNA damage recognition GO:0000715 9.64 RAD23B XPA
18 UV-damage excision repair GO:0070914 9.63 ERCC1 XPA
19 regulation of mitotic cell cycle phase transition GO:1901990 9.62 ERCC2 ERCC3
20 hair cell differentiation GO:0035315 9.62 ERCC2 ERCC3
21 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.61 GTF2H1 GTF2H4
22 nucleotide-excision repair, preincision complex assembly GO:0006294 9.5 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5 RAD23B
23 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.17 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5 RAD23B
24 cellular response to DNA damage stimulus GO:0006974 10.15 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
25 DNA repair GO:0006281 10.08 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
26 transcription from RNA polymerase II promoter GO:0006366 10.03 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
27 global genome nucleotide-excision repair GO:0070911 10.03 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
28 nucleotide-excision repair GO:0006289 10.01 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
29 transcription-coupled nucleotide-excision repair GO:0006283 10 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.73 ERCC2 ERCC3 GTF2H1 GTF2H4
2 protein C-terminus binding GO:0008022 9.58 ERCC1 ERCC2 ERCC3
3 helicase activity GO:0004386 9.5 ERCC2 ERCC3 HELLS
4 damaged DNA binding GO:0003684 9.46 ERCC1 ERCC3 RAD23B XPA
5 ATP-dependent DNA helicase activity GO:0004003 9.43 ERCC2 ERCC3 GTF2H4
6 DNA-dependent ATPase activity GO:0008094 9.26 ERCC2 ERCC3 GTF2H1 GTF2H4
7 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 8.92 ERCC2 ERCC3 GTF2H1 GTF2H4
8 protein binding GO:0005515 10.15 BCR CDC42 ERCC1 ERCC2 ERCC3 GTF2H1

Sources for Xeroderma Pigmentosum, Group B

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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