XP-B
MCID: XRD013
MIFTS: 50

Xeroderma Pigmentosum, Group B (XP-B) malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group B

Aliases & Descriptions for Xeroderma Pigmentosum, Group B:

Name: Xeroderma Pigmentosum, Group B 54 13 69
Xeroderma Pigmentosum Complementation Group B 66 29
Xeroderma Pigmentosum Group B 12 14
Xp Group B 12 66
Xeroderma Pigmentosum Group B with Cockayne Syndrome 66
Xeroderma Pigmentosum Ii 66
Xp-B/cs 66
Xpbc 12
Xp-B 66
Xpb 12
Xp2 66

Characteristics:

HPO:

32
xeroderma pigmentosum, group b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610651
Disease Ontology 12 DOID:0110850
ICD10 33 Q82.1
MeSH 42 D014983

Summaries for Xeroderma Pigmentosum, Group B

UniProtKB/Swiss-Prot : 66 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 complementation group b, is related to cockayne syndrome, type a and xeroderma pigmentosum, group a, and has symptoms including ataxia, intellectual disability and hyperreflexia. 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 related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and behavior/neurological

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

OMIM : 54 For a general discussion of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA... (610651) more...

Related Diseases for Xeroderma Pigmentosum, Group B

Diseases in the Xeroderma Pigmentosum Group E family:

Xeroderma Pigmentosum, Group B Xeroderma Pigmentosum, Group C
Xeroderma Pigmentosum, Group a Xeroderma Pigmentosum, Group G
Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum, Group D

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

(show all 25)
id Related Disease Score Top Affiliating Genes
1 cockayne syndrome, type a 10.8
2 xeroderma pigmentosum, group a 10.8
3 confetti-like macular atrophy 10.2 ERCC2 ERCC3
4 thymus lymphoma 10.1 ERCC2 XPA
5 17-beta-hydroxysteroid dehydrogenase x deficiency 10.0 CDC42 MCF2
6 charcot-marie-tooth disease type 2a 10.0 ERCC1 ERCC2 ERCC3
7 ovarian cancer 10.0
8 autoimmune disease 3 10.0 ERCC1 ERCC2 ERCC3
9 congenital stationary night blindness 1h 10.0 RAD23B XPA
10 mycobacterium kansasii 9.9 ERCC2 RAD23B XPA
11 cockayne syndrome 9.9
12 bone marrow failure syndrome 2 9.8 ERCC1 XPA
13 t-cell large granular lymphocyte leukemia 9.8 ERCC1 ERCC2 ERCC3 XPA
14 lung cancer 9.7
15 hepatitis 9.7
16 hepatitis b 9.7
17 myoclonic-atonic epilepsy 9.7 ERCC2 ERCC3 GTF2H1 RAD23B XPA
18 bile acid malabsorption, primary 9.7 ERCC1 ERCC3 RAD23B XPA
19 fanconi anemia, complementation group q 9.7 ERCC1 ERCC2 RAD23B XPA
20 qazi markouizos syndrome 9.6 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
21 retinitis pigmentosa 7 and digenic 9.6 ERCC1 ERCC2 ERCC3 RAD23B XPA
22 renal artery obstruction 9.6 DNAH8 ERCC1 ERCC2 ERCC3 HELLS XPA
23 cerebrooculofacioskeletal syndrome 2 9.4 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
24 3-methylglutaconic aciduria, type iii 9.0 ERCC1 ERCC2 ERCC3 GTF2H4 GTF2H5 HELLS
25 trichothiodystrophy 2, photosensitive 8.3 BCR CDC42 DNAH8 ERCC1 ERCC2 ERCC3

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 by clinical synopsis from OMIM:

610651

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 ataxia 32 HP:0001251
2 intellectual disability 32 HP:0001249
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, 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
Esomeprazole Approved, Investigational Phase 2 161796-78-7, 119141-88-7 4594 9579578
10
Lansoprazole Approved, Investigational Phase 2 103577-45-3 3883
11
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
12
Pantoprazole Approved Phase 2 102625-70-7 4679
13
Rabeprazole Approved, Investigational Phase 2 117976-89-3 5029
14 Antacids Phase 2
15 Anti-Ulcer Agents Phase 2
16
Dexlansoprazole Phase 2 138530-94-6, 103577-45-3 9578005
17 Gastrointestinal Agents Phase 2
18
Proton pump inhibitors Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3
2 Efficacy and Safety of Arbaclofen Placarbil in Subjects With Spasticity Due to Multiple Sclerosis Completed NCT01359566 Phase 3
3 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
4 A Study to Evaluate the Efficacy and Safety of Controlled Release Arbaclofen Placarbil (XP19986) in Patients With Gastroesophageal Reflux Disease Completed NCT00838396 Phase 2
5 A Study to Evaluate the Safety and Tolerability of Arbaclofen Placarbil (XP19986) in Subjects With Acute Back Spasms Completed NCT00817986 Phase 2
6 A Safety and Efficacy Study of XP19986 in Subjects With Spasticity Due to Spinal Cord Injury Completed NCT00557973 Phase 2
7 An Efficacy and Safety Study of XP19986 in Subjects With Symptomatic GERD Completed NCT00557401 Phase 2

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

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
BCR binds to the xeroderma pigmentosum group B protein. ( 10403766 )
1999
3
The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein. ( 9874796 )
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:

66
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 11.37 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 7-methylguanosine mRNA capping GO:0006370 9.93 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
4 transcription initiation from RNA polymerase I promoter GO:0006361 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, 5-to lesion GO:0006296 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, preincision complex stabilization GO:0006293 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, DNA incision GO:0033683 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, 3-to lesion GO:0006295 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, DNA duplex unwinding GO:0000717 9.5 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5 RAD23B
23 nucleotide-excision repair, preincision complex assembly GO:0006294 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 nucleotide-excision repair GO:0006289 10.03 ERCC1 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, 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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