XP-B
MCID: XRD032
MIFTS: 45

Xeroderma Pigmentosum, Complementation Group B (XP-B)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin 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 Formation of HIV-1 elongation complex containing HIV-1 Tat 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 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

Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group B

Diseases related to Xeroderma Pigmentosum, Complementation Group B via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group a 31.8 ERCC1 XPA
2 trichothiodystrophy 1, photosensitive 30.7 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H4 GTF2H5
3 xeroderma pigmentosum, variant type 29.9 ERCC1 ERCC2 ERCC3 ERCC5 RAD23B XPA
4 cockayne syndrome 29.5 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 XPA
5 ovarian cancer 10.2
6 xeroderma pigmentosum group e 10.0 RAD23B XPA
7 hepatitis 10.0
8 hepatitis b 10.0
9 xeroderma pigmentosum, complementation group e 10.0 ERCC5 XPA
10 xeroderma pigmentosum, complementation group c 10.0 ERCC3 RAD23B XPA
11 cerebrooculofacioskeletal syndrome 1 9.9 ERCC2 ERCC5
12 cockayne syndrome a 9.9 ERCC2 ERCC5
13 diffuse gastric cancer 9.9 ERCC1 ERCC2
14 autosomal genetic disease 9.9 ERCC1 ERCC2 XPA
15 uv-sensitive syndrome 9.9 ERCC2 ERCC3 ERCC5
16 mutagen sensitivity 9.8 ERCC2 RAD23B XPA
17 autosomal recessive disease 9.8 ERCC2 ERCC3 GTF2H5 XPA
18 cerebro-oculo-facio-skeletal syndrome 9.8 ERCC1 ERCC2 ERCC3 ERCC5
19 basal cell carcinoma 9.7 ERCC1 ERCC2 XPA
20 xeroderma pigmentosum, complementation group g 9.7 ERCC1 ERCC3 ERCC5 RAD23B XPA
21 xeroderma pigmentosum, complementation group f 9.6 ERCC1 ERCC2 ERCC5 RAD23B XPA
22 xeroderma pigmentosum, complementation group d 9.4 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 RAD23B

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 Face:
wizened face

Head And Neck Ears:
sensorineural deafness

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

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

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 9.28 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 ERCC1 ERCC2 ERCC3 ERCC5 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-B Receptor Agonists Phase 3,Phase 2
4 Peripheral Nervous System Agents Phase 3,Phase 2
5 GABA Agents Phase 3,Phase 2
6 Neuromuscular Agents Phase 3,Phase 2
7 GABA Agonists Phase 3,Phase 2
8 Neurotransmitter Agents Phase 3,Phase 2
9
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
10
Rabeprazole Approved, Investigational Phase 2 117976-89-3 5029
11
Dexlansoprazole Approved, Investigational Phase 2 103577-45-3, 138530-94-6 9578005
12
Esomeprazole Approved, Investigational Phase 2 161796-78-7, 119141-88-7 4594 9579578
13
Lansoprazole Approved, Investigational Phase 2 103577-45-3 3883
14
Pantoprazole Approved Phase 2 102625-70-7 4679
15 Anti-Ulcer Agents Phase 2
16 Antacids Phase 2
17 Proton Pump Inhibitors Phase 2
18 Gastrointestinal Agents 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

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, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
2 ERCC3 ERCC3, IVS14AS, C-A, -6 single nucleotide variant Pathogenic
3 ERCC3 NM_000122.1(ERCC3): c.296T> C (p.Phe99Ser) single nucleotide variant Pathogenic rs121913045 GRCh37 Chromosome 2, 128050361: 128050361
4 ERCC3 NM_000122.1(ERCC3): c.296T> C (p.Phe99Ser) single nucleotide variant Pathogenic rs121913045 GRCh38 Chromosome 2, 127292785: 127292785
5 ERCC3 NM_000122.1(ERCC3): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs121913047 GRCh37 Chromosome 2, 128044348: 128044348
6 ERCC3 NM_000122.1(ERCC3): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs121913047 GRCh38 Chromosome 2, 127286772: 127286772
7 ERCC3 ERCC3, 2-BP DEL, 807TT deletion Pathogenic
8 ERCC3 ERCC3, 1-BP INS, 1421A insertion Pathogenic
9 ERCC3 NM_000122.1(ERCC3): c.1633C> T (p.Gln545Ter) single nucleotide variant Pathogenic rs121913048 GRCh37 Chromosome 2, 128036846: 128036846
10 ERCC3 NM_000122.1(ERCC3): c.1633C> T (p.Gln545Ter) single nucleotide variant Pathogenic rs121913048 GRCh38 Chromosome 2, 127279270: 127279270

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
2
Show member pathways
12.91 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
3
Show member pathways
12.75 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
4
Show member pathways
12.69 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
5
Show member pathways
12.56 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 RAD23B
6
Show member pathways
12.34 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
7 12.33 ERCC1 ERCC2 ERCC3 RAD23B XPA
8 11.93 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5 XPA
9
Show member pathways
11.88 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
10 11.53 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5 XPA
11
Show member pathways
11.34 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
12 11.02 ERCC1 ERCC2 ERCC3 MT2A XPA
13 10.92 GTF2H1 GTF2H4 GTF2H5

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 transcription factor TFIIH holo complex GO:0005675 9.46 ERCC2 ERCC3 GTF2H1 GTF2H4
2 nucleotide-excision repair complex GO:0000109 9.43 ERCC1 ERCC5
3 DNA replication factor A complex GO:0005662 9.43 ERCC5 HELB XPA
4 nucleotide-excision repair factor 1 complex GO:0000110 9.4 ERCC1 XPA
5 transcription factor TFIID complex GO:0005669 9.35 ERCC1 ERCC2 ERCC3 GTF2H4 GTF2H5
6 transcription factor TFIIH core complex GO:0000439 9.02 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
7 nucleus GO:0005634 10.15 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
8 nucleoplasm GO:0005654 10.02 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4

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 9.97 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
2 global genome nucleotide-excision repair GO:0070911 9.97 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
3 transcription elongation from RNA polymerase II promoter GO:0006368 9.93 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
4 7-methylguanosine mRNA capping GO:0006370 9.92 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
5 nucleotide-excision repair, DNA incision GO:0033683 9.92 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
6 transcription initiation from RNA polymerase I promoter GO:0006361 9.91 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
7 termination of RNA polymerase I transcription GO:0006363 9.89 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
8 response to oxidative stress GO:0006979 9.88 ERCC1 ERCC2 ERCC3 XPA
9 UV protection GO:0009650 9.88 ERCC1 ERCC2 ERCC3 ERCC5 XPA
10 response to UV GO:0009411 9.87 ERCC2 ERCC3 ERCC5 XPA
11 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.86 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
12 embryonic organ development GO:0048568 9.85 ERCC1 ERCC2 ERCC3 RAD23B
13 multicellular organism growth GO:0035264 9.81 ERCC1 ERCC2 XPA
14 DNA duplex unwinding GO:0032508 9.79 ERCC2 ERCC3 HELB
15 nucleotide-excision repair, preincision complex assembly GO:0006294 9.76 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4 GTF2H5
16 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.73 ERCC3 GTF2H1 GTF2H4
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 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.61 ERCC1 ERCC5
22 regulation of mitotic recombination GO:0000019 9.6 ERCC2 ERCC3
23 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.59 ERCC2 ERCC3
24 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.56 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
25 transcription-coupled nucleotide-excision repair GO:0006283 9.23 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
26 cellular response to DNA damage stimulus GO:0006974 10.16 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
27 DNA repair GO:0006281 10.13 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
28 nucleotide-excision repair GO:0006289 10.06 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H4
29 transcription by RNA polymerase II GO:0006366 10.02 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.8 ERCC2 ERCC3 GTF2H1 GTF2H4
2 protein C-terminus binding GO:0008022 9.65 ERCC1 ERCC2 ERCC3
3 helicase activity GO:0004386 9.61 ERCC2 ERCC3 HELB
4 protein N-terminus binding GO:0047485 9.58 ERCC2 ERCC3 ERCC5
5 single-stranded DNA binding GO:0003697 9.54 ERCC1 ERCC5 RAD23B
6 DNA-dependent ATPase activity GO:0008094 9.46 ERCC2 ERCC3 GTF2H1 GTF2H4
7 ATP-dependent DNA helicase activity GO:0004003 9.43 ERCC2 ERCC3 HELB
8 damaged DNA binding GO:0003684 9.35 ERCC1 ERCC2 ERCC3 RAD23B XPA
9 ATP-dependent 5'-3' DNA helicase activity GO:0043141 9.32 ERCC2 HELB
10 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 8.92 ERCC2 ERCC3 GTF2H1 GTF2H4
11 protein binding GO:0005515 10.23 ERCC1 ERCC2 ERCC3 ERCC5 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
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
Content
Loading form....