MCID: XRD032
MIFTS: 50

Xeroderma Pigmentosum, Complementation Group B

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group B

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group B:

Name: Xeroderma Pigmentosum, Complementation Group B 57 29 6 40
Xeroderma Pigmentosum, Group B 57 13 73
Xeroderma Pigmentosum Group B 12 15
Xp Group B 12 75
Xpbc 57 12
Xpb 57 12
Xeroderma Pigmentosum Group B with Cockayne Syndrome 75
Xeroderma Pigmentosum Complementation Group B 75
Xeroderma Pigmentosum Ii 75
Xp, Group B; Xpbc 57
Xp, Group B 57
Xp-B/cs 75
Xp-B 75
Xp2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group B

UniProtKB/Swiss-Prot : 75 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, Complementation Group B, also known as xeroderma pigmentosum, group b, is related to xeroderma pigmentosum, complementation group a and trichothiodystrophy 1, photosensitive, and has symptoms including ataxia An important gene associated with Xeroderma Pigmentosum, Complementation Group B is ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are HIV Transcription Elongation and DNA Double-Strand Break Repair. 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 intellectual disability and ataxia

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

OMIM : 57 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)

Related Diseases for Xeroderma Pigmentosum, Complementation Group B

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



Diseases related to Xeroderma Pigmentosum, Complementation Group B

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group B

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
cerebellar atrophy
abnormal myelination
mental retardation
basal ganglia calcifications
more
Head And Neck Head:
microcephaly

Growth Height:
short stature

Endocrine Features:
hypogonadism

Head And Neck Ears:
sensorineural deafness

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

Neurologic Peripheral Nervous System:
hyperreflexia
decreased nerve conduction velocity

Head And Neck Eyes:
optic atrophy
microphthalmia
pigmentary retinopathy
cataracts

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

Skin Nails Hair Skin:
freckling
atrophic skin
photosensitivity
abnormal pigmentation

Head And Neck Face:
wizened face

Growth Weight:
cachectic appearance


Clinical features from OMIM:

610651

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group B:

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

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group B:


ataxia

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

26
# 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, Complementation Group B:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.1 ERCC1 ERCC2 ERCC3 HELB RAD23B XPA

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group B

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

(show all 18)
# 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
Dexlansoprazole Approved, Investigational Phase 2 138530-94-6, 103577-45-3 9578005
10
Esomeprazole Approved, Investigational Phase 2 161796-78-7, 119141-88-7 4594 9579578
11
Lansoprazole Approved, Investigational Phase 2 103577-45-3 3883
12
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
13
Pantoprazole Approved Phase 2 102625-70-7 4679
14
Rabeprazole Approved, Investigational Phase 2 117976-89-3 5029
15 Antacids Phase 2
16 Anti-Ulcer Agents Phase 2
17 Gastrointestinal Agents Phase 2
18 Proton Pump Inhibitors Phase 2

Interventional clinical trials:


# 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, Complementation Group B

Genetic Tests for Xeroderma Pigmentosum, Complementation Group B

Genetic tests related to Xeroderma Pigmentosum, Complementation Group B:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Complementation Group B 29 ERCC3

Anatomical Context for Xeroderma Pigmentosum, Complementation Group B

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

41
Skin, Spinal Cord

Publications for Xeroderma Pigmentosum, Complementation Group B

Articles related to Xeroderma Pigmentosum, Complementation Group B:

# Title Authors Year
1
Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues. ( 11077043 )
2000
2
Mechanism of promoter melting by the xeroderma pigmentosum complementation group B helicase of transcription factor IIH revealed by protein-DNA photo-cross-linking. ( 11027286 )
2000
3
Cloning and characterization of the Drosophila homolog of the xeroderma pigmentosum complementation-group B correcting gene, ERCC3. ( 1454518 )
1992

Variations for Xeroderma Pigmentosum, Complementation Group B

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

75
# Symbol AA change Variation ID SNP ID
1 ERCC3 p.Phe99Ser VAR_003632 rs121913045

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

6
# 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.296T> C (p.Phe99Ser) single nucleotide variant Pathogenic rs121913045 GRCh38 Chromosome 2, 127292785: 127292785
4 ERCC3 NM_000122.1(ERCC3): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs121913047 GRCh37 Chromosome 2, 128044348: 128044348
5 ERCC3 NM_000122.1(ERCC3): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs121913047 GRCh38 Chromosome 2, 127286772: 127286772
6 ERCC3 ERCC3, 2-BP DEL, 807TT deletion Pathogenic
7 ERCC3 ERCC3, 1-BP INS, 1421A insertion Pathogenic
8 ERCC3 NM_000122.1(ERCC3): c.1633C> T (p.Gln545Ter) single nucleotide variant Pathogenic rs121913048 GRCh37 Chromosome 2, 128036846: 128036846
9 ERCC3 NM_000122.1(ERCC3): c.1633C> T (p.Gln545Ter) single nucleotide variant Pathogenic rs121913048 GRCh38 Chromosome 2, 127279270: 127279270
10 ERCC3 ERCC3, IVS3DS, G-A, +1 single nucleotide variant Pathogenic

Expression for Xeroderma Pigmentosum, Complementation Group B

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

Pathways for Xeroderma Pigmentosum, Complementation Group B

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
2
Show member pathways
12.97 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
3
Show member pathways
12.74 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
4
Show member pathways
12.67 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
5
Show member pathways
12.49 ERCC1 ERCC2 ERCC3 GTF2H1 RAD23B XPA
6
Show member pathways
12.49 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
7 12.3 ERCC1 ERCC2 ERCC3 RAD23B XPA
8 11.82 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5 XPA
9
Show member pathways
11.76 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
10
Show member pathways
11.29 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
11 10.82 ERCC1 ERCC2 ERCC3 MT2A XPA

GO Terms for Xeroderma Pigmentosum, Complementation Group B

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.97 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
2 holo TFIIH complex GO:0005675 9.46 ERCC2 ERCC3 GTF2H1 GTF2H4
3 DNA replication factor A complex GO:0005662 9.43 HELB XPA
4 cyclin-dependent protein kinase activating kinase holoenzyme complex GO:0019907 9.4 ERCC2 PUF60
5 transcription factor TFIID complex GO:0005669 9.35 ERCC1 ERCC2 ERCC3 GTF2H4 GTF2H5
6 nucleotide-excision repair factor 1 complex GO:0000110 9.26 ERCC1 XPA
7 core TFIIH complex GO:0000439 9.02 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
8 nucleus GO:0005634 10.11 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5

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

(show all 29)
# 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 7-methylguanosine mRNA capping GO:0006370 9.95 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
4 transcription initiation from RNA polymerase I promoter GO:0006361 9.93 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
5 termination of RNA polymerase I transcription GO:0006363 9.92 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
6 transcription elongation from RNA polymerase I promoter GO:0006362 9.91 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
7 nucleotide-excision repair, DNA incision GO:0033683 9.91 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
8 response to oxidative stress GO:0006979 9.89 ERCC1 ERCC2 ERCC3 XPA
9 embryonic organ development GO:0048568 9.88 ERCC1 ERCC2 ERCC3 RAD23B
10 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.87 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
11 UV protection GO:0009650 9.86 ERCC1 ERCC2 ERCC3 XPA
12 multicellular organism growth GO:0035264 9.8 ERCC1 ERCC2 XPA
13 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.8 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
14 DNA duplex unwinding GO:0032508 9.78 ERCC2 GTF2H4 HELB
15 response to UV GO:0009411 9.77 ERCC2 ERCC3 XPA
16 nucleotide-excision repair, preincision complex assembly GO:0006294 9.7 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5 RAD23B
17 nucleotide-excision repair, DNA damage recognition GO:0000715 9.64 RAD23B XPA
18 UV-damage excision repair GO:0070914 9.64 ERCC1 XPA
19 regulation of mitotic cell cycle phase transition GO:1901990 9.63 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, DNA duplex unwinding GO:0000717 9.5 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5 RAD23B
23 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.17 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
24 cellular response to DNA damage stimulus GO:0006974 10.15 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
25 DNA repair GO:0006281 10.13 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
26 nucleotide-excision repair GO:0006289 10.03 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
27 transcription by RNA polymerase II GO:0006366 10.02 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
28 global genome nucleotide-excision repair GO:0070911 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, Complementation Group B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.67 ERCC2 ERCC3 GTF2H1 GTF2H4
2 protein C-terminus binding GO:0008022 9.58 ERCC1 ERCC2 ERCC3
3 damaged DNA binding GO:0003684 9.56 ERCC1 ERCC3 RAD23B XPA
4 helicase activity GO:0004386 9.5 ERCC2 ERCC3 HELB
5 DNA-dependent ATPase activity GO:0008094 9.46 ERCC2 ERCC3 GTF2H1 GTF2H4
6 ATP-dependent DNA helicase activity GO:0004003 9.26 ERCC2 ERCC3 GTF2H4 HELB
7 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 8.92 ERCC2 ERCC3 GTF2H1 GTF2H4

Sources for Xeroderma Pigmentosum, Complementation Group B

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
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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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