MCID: XRD013
MIFTS: 44

Xeroderma Pigmentosum, Group B malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group B

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Aliases & Descriptions for Xeroderma Pigmentosum, Group B:

Name: Xeroderma Pigmentosum, Group B 50 12
Xeroderma Pigmentosum Complementation Group B 68 25
Xeroderma Pigmentosum Group B with Cockayne Syndrome 68
Xeroderma Pigmentosum Ii 68
 
Xp Group B 68
Xp-B/cs 68
Xp-B 68
Xp2 68

Characteristics:

HPO:

62
xeroderma pigmentosum, group b:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 610651
MeSH37 D014983

Summaries for Xeroderma Pigmentosum, Group B

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UniProtKB/Swiss-Prot:68 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 combined hyperactive dysfunction syndrome of the cranial nerves and cerebrospinal fluid leak, and has symptoms including hypogonadism, microcephaly and sensorineural hearing impairment. 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 are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Regulation of RAC1 activity. Affiliated tissues include skin and spinal cord.

OMIM:50 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

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



Diseases related to xeroderma pigmentosum, group b

Symptoms for Xeroderma Pigmentosum, Group B

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Symptoms by clinical synopsis from OMIM:

610651

Clinical features from OMIM:

610651

HPO human phenotypes related to Xeroderma Pigmentosum, Group B:

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

Drugs & Therapeutics for Xeroderma Pigmentosum, Group B

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Arbaclofen PlacarbilPhase 3, Phase 27847353-30-4
2
BaclofenPhase 3, Phase 2951134-47-02284
Synonyms:
( inverted question mark)-Baclofen
(+-)-Baclofen
(+/-)- beta-(Aminoethyl)-4- chlorobenzenepropanoic acid
(+/-)-BACLOFEN
(+/-)-beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
(?)-Baclofen
1134-47-0
4-Amino-3-(4-chlorophenyl)butanoic acid
4-Amino-3-(4-chlorophenyl)butyric acid
62594-36-9
AB00051921
AC-4530
AC1L1DC6
ASTA Medica Brand of Baclofen
AWD, Baclofen
Alphapharm Brand of Baclofen
Apo Baclofen
Apo-Baclofen
ApoBaclofen
Apotex Brand of Baclofen
Ashbourne Brand of Baclofen
Athena Brand of Baclofen
Atrofen
B 5399
B3343
B5399_SIGMA
BPBio1_000012
BPBio1_000750
BRD-A84174873-001-05-2
BRN 2104494
BSPBio_000010
BSPBio_001880
Ba 34647
Ba-34,647
Ba-34647
Ba34,647
Ba34647
Baclofen (JP15/USP/INN)
Baclofen (R,S)
Baclofen AWD
Baclofen Alphapharm Brand
Baclofen Apotex Brand
Baclofen Ashbourne Brand
Baclofen Athena Brand
Baclofen Ciba-Geigy Brand
Baclofen Irex Brand
Baclofen Isis Brand
Baclofen Medtronic Brand
Baclofen Novartis Brand
Baclofen Nu-Pharm Brand
Baclofen Pharmascience Brand
Baclofen [USAN:INN:BAN:JAN]
Baclofene
Baclofene Irex
Baclofene [INN-French]
Baclofene-Irex
BaclofeneIrex
Baclofeno
Baclofeno [INN-Spanish]
Baclofenum
Baclofenum [INN-Latin]
Baclon
Baclophen
Baclospas
Benzenepropanoic acid, beta-(aminomethyl)-4-chloro-(9CI)
Biomol-NT_000251
C 34647Ba
C10H12ClNO2
CCRIS 3722
CHEBI:2972
CHEMBL701
CIBA-34,647-BA
CIBA34,647BA
CID2284
Chlorophenyl GABA
Ciba 34,647-Ba
Ciba Geigy Brand of Baclofen
Ciba-Geigy Brand of Baclofen
Clofen
D001418
D00241
DB00181
DL-4-Amino-3-P-chlorophenylbutanoic acid
DL-4-Amino-3-p-chlorophenylbutanoic acid
DL-Baclofen
 
DivK1c_000001
EINECS 214-486-9
EU-0100163
GABA, Chlorophenyl
Gabalon
Gen Baclofen
Gen-Baclofen
GenBaclofen
Genpharm
HMS1568A12
HMS1920E21
HMS2091M03
HMS500A03
I01-1934
IDI1_000001
Irex Brand of Baclofen
Isis Brand of Baclofen
KBio1_000001
KBio2_000466
KBio2_003034
KBio2_005602
KBio3_001380
KBioGR_000650
KBioSS_000466
Kemstro
Kemstro (TN)
L000002
LS-77134
Lebic
Lioresal
Lioresal (TN)
Lioresal Intrathecal
Lopac0_000163
MLS000028480
Medtronic Brand of Baclofen
MolPort-002-051-370
NCGC00015156-05
NCGC00015156-12
NCGC00023843-03
NCGC00024579-03
NCGC00024579-04
NCGC00024579-05
NCGC00024579-06
NINDS_000001
NSC329137
Novartis Brand of Baclofen
Nu Baclo
Nu Pharm Brand of Baclofen
Nu-Baclo
Nu-Baclofen
Nu-Pharm Brand of Baclofen
NuBaclo
Oprea1_440627
PCP-GABA
PMS Baclofen
PMSBaclofen
Pharmascience Brand of Baclofen
Pms-Baclofen
Prestwick0_000085
Prestwick1_000085
Prestwick2_000085
Prestwick3_000085
Prestwick_85
SMP1_000036
SMR000058294
SPBio_000044
SPBio_001949
SPECTRUM1500135
STK535284
STOCK2S-30552
Spectrum2_000092
Spectrum3_000310
Spectrum4_000245
Spectrum5_000852
Spectrum_000066
UNII-H789N3FKE8
UPCMLD-DP142
UPCMLD-DP142:001
baclofen
beta-(4-Chlorophenyl)gaba
beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
beta-(Aminomethyl)-P-chlorohydrocinnamic acid
beta-(Aminomethyl)-p-chlorohydrocinnamic acid
beta-(P-Chlorophenyl)-gamma-aminobutyric acid
beta-(p-Chlorophenyl)-gamma-aminobutyric acid
gamma-Amino-beta-(P-chlorophenyl)butyric acid
gamma-Amino-beta-(p-chlorophenyl)butyric acid
3
Proton pump inhibitorsPhase 21057
Synonyms:
 
PPIs
4
RabeprazolePhase 2147117976-89-35029
Synonyms:
117976-89-3
2-(((4-(3-Methoxypropoxy)-3-methyl-2-pyridinyl)methyl)sulfinyl)-1H-benzimidazole
2-((4-(3-methoxypropoxy)-3-methylpyridin-2-yl)methylsulfinyl)-1H-benzimidazole
2-({[4-(3-methoxypropoxy)-3-methylpyridin-2-yl]methyl}sulfinyl)-1H-benzimidazole
2-[[4-(3-methoxypropoxy)-3-methylpyridin-2-yl]methylsulfinyl]-1H-benzimidazole
AC1L1JGC
AcipHex
Aciphex
BIDD:GT0019
C063129
C07864
C18H21N3O3S
CHEBI:8768
CHEMBL1219
CID5029
CL23619
CPD000469174
Clofezone
D08463
DB01129
Eraloc
Eraloc (TN)
 
HMS2052P03
HSDB 7321
Habeprazole
I06-0755
Irsogladine Maleate
LS-172365
LY307640
MLS001401446
MolPort-005-935-061
Pariet
Pariets
Rabeprazole
Rabeprazole (INN)
Rabeprazole [BAN:INN]
Rabeprazole [INN:BAN]
Rabeprazole sodium
Rebeprazole sodium
SAM001246619
SMR000469174
Sodium rabeprazole
UNII-32828355LL
dexrabeprazole
rabeprazole
rabeprazole sodium
5
PantoprazolePhase 2168102625-70-74679
Synonyms:
102625-70-7
5-(Difluoromethoxy)-2-(((3,4-dimethoxy-2-pyridyl)methyl)sulfinyl)benzimidazole
5-(difluoromethoxy)-2-{[(3,4-dimethoxypyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-(difluoromethoxy)-2-[(3,4-dimethoxypyridin-2-yl)methylsulfinyl]-1H-benzimidazole
AC-679
AC1L1IPJ
Astropan
BIDD:GT0003
BRD-A22380646-001-01-5
BSPBio_002320
BY 1023
BY-1023
C11806
C16H15F2N3O4S
CHEBI:519598
CHEBI:7915
CHEMBL1502
CID4679
D05353
DB00213
HMS1922H20
HMS2090H03
HMS2093F14
HSDB 7292
I06-0068
LS-32883
MolPort-003-666-752
MolPort-005-933-577
NCGC00095188-01
 
NCGC00095188-02
NCGC00095188-03
Pantoloc
Pantopan
Pantoprazol
Pantoprazol [INN-Spanish]
Pantoprazole (USAN/INN)
Pantoprazole Na
Pantoprazole Sodium
Pantoprazole Sodium Hydrate
Pantoprazole [USAN:BAN:INN]
Pantoprazole sodium
Pantoprazolum
Pantoprazolum [INN-Latin]
Pantoprozole
Pantor
Pantozol
Protium
Protonix
Protonix I.V.
Protonix IV
SBB070993
SK&F 96022
SK&F-96022
SK-96022
SKF-96022
SPECTRUM1505818
Somac
TL8000127
UNII-D8TST4O562
pantoprazole
6
LansoprazolePhase 2204103577-45-33883
Synonyms:
103577-45-3
2-(((3-Methyl-4-(2,2,2-trifluoroethoxy)-2-pyridinyl)methyl)sulfinyl)-1H-benzimidazole
2-(((3-Methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl)methyl)sulfinyl)benzimidazole
2-(((3-methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl)methyl)sulfinyl)-1H-benzimidazole
2-({[3-methyl-4-(2,2,2-trifluoroethoxy)pyridin-2-yl]methyl}sulfinyl)-1H-benzimidazole
2-[({3-methyl-4-[(2,2,2-trifluoroethyl)oxy]pyridin-2-yl}methyl)sulfinyl]-1H-benzimidazole
2-[[3-methyl-4-(2,2,2-trifluoroethoxy)pyridin-2-yl]methylsulfinyl]-1H-benzimidazole
2-[[[3-methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl] methyl] sulfinyl] benzimidazole
2-[[[3-methyl-4-(2,2,2-trifluroethoxy)-2-pyridyl]methyl]sulfinyl]benzimidazole
A 65006
A-65006
AB00052388
ABT-006
AC1L1GX8
AG 1749
AG-1749
Abbot Brand of Lansoprazole
Agopton
Almirall Brand of Lansoprazole
Amarin
Aprazol
BIDD:GT0006
BPBio1_001194
BRD-A49172652-001-05-7
BRN 4333393
BSPBio_001084
BSPBio_001830
Bamalite
Bio-0824
Biuret
Biuret Gr
Biuret Reagent
Biuret Reagent Solution
Blason
C058687
C16H14F3N3O2S
CAS-103577-45-3
CG-4801
CHEBI:6375
CHEMBL480
CID3883
CPD000058469
Compraz
D00355
DB00448
Dakar
DivK1c_000920
EU-0100709
FT-0082011
HMS1571G06
HMS1922M04
HMS2052F05
HMS2093M07
HMS502N22
HSDB 7204
Hoechst Brand of Lansoprazole
Hormona Brand of Lansoprazole
I06-0018
IDI1_000920
Ilsatec
KBio1_000920
KBio2_002060
KBio2_004628
KBio2_007196
KBio3_001330
KBioGR_001491
KBioSS_002060
Ketian
L 8533
L8533_SIGMA
LS-33080
Lancid
Lanfast
Lanproton
Lansopep
Lansophed
Lansoprazol
Lansoprazol [INN-Spanish]
Lansoprazole
Lansoprazole (JAN/USP/INN)
Lansoprazole [USAN:BAN:INN]
Lansoprazole [Usan:Ban:Inn]
Lansoprazolum
Lansoprazolum [INN-Latin]
Lansox
Lanston
 
Lanz
Lanzo
Lanzol
Lanzol-30
Lanzopral
Lanzor
Lanzul
Lapraz
Lasoprol
Lederle Brand of Lansoprazole
Limpidex
Linamarin
Lopac-L-8533
Lopac0_000709
MLS-0003247.0001
MLS000069705
MLS000759405
MLS001074170
Mesactol
MolPort-003-666-508
MolPort-006-394-760
Monolitum
NCGC00015615-01
NCGC00015615-02
NCGC00015615-03
NCGC00015615-06
NCGC00015615-11
NCGC00023826-03
NCGC00023826-04
NCGC00023826-05
NCGC00023826-06
NCGC00023826-07
NINDS_000920
Ogast
Ogastro
Opiren
Prestwick0_001072
Prestwick1_001072
Prestwick2_001072
Prestwick3_001072
PrevOnco
Prevacid
Prevacid (TN)
Prevacid I.V
Prevacid I.V.
Prevacid Iv
Prevacid SoluTab
Prevacid Solutab
Prevacid, Prevacid NapraPAC, Prevacid SoluTab, Lansoprazole
Prevpac
Prezal
Pro Ulco
Promeco
Promeco Brand of Lansoprazole
Promp
Prosogan
S1354_Selleck
SAM001246544
SMR000058469
SPBio_000488
SPBio_002992
SPECTRUM1503926
STK621169
Salvar Brand of Lansoprazole
Spectrum2_000444
Spectrum3_000295
Spectrum4_000856
Spectrum5_001521
Spectrum_001580
Suprecid
TAK 390MR
TAK-390MR
TAK390MR
TAP Brand of Lansoprazole
TL8000155
Takeda Brand of Lansoprazole
Takepron
Tecnobio Brand of Lansoprazole
UNII-0K5C5T2QPG
Ulpax
Vinas Brand of Lansoprazole
Wyeth Brand of Lansoprazole
Zoprol
Zoton
lansoprazole
lansoprazole sulphone
lanzoprazole
7
DexlansoprazolePhase 2204138530-94-6, 103577-45-39578005
Synonyms:
138530-94-6
CHEMBL1201863
CID9578005
D08903
Dexlansoprazole (INN/USAN)
KS-1075
 
Kapidex
MolPort-002-885-834
T 168390
TAK 390
UNII-UYE4T5I70X
ZINC00599734
dexlansoprazole
8
EsomeprazolePhase 2317161796-78-7, 119141-88-74594, 9579578
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(-)-omeprazole
(S)-(-)-Omeprazole
(S)-(−)-omeprazole
(S)-Omeprazole
(S)-omeprazole
(s)-omeprazole
(−)-omeprazole
119141-88-7
119141-89-8
131959-78-9
172964-80-6
193469-77-1
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
326602-80-6
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-((S)-((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{(S)-[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1-methyl-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
6-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Axagon
BIDD:GT0020
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:50275
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CID9568614
CID9579578
CPD000058847
Ceprandal
D00455
D07917
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazol
Esomeprazole
Esomeprazole (INN)
Esomeprazole Sodium
Esomeprazole [INN:BAN]
Esomeprazolum
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
InChI=1/C17H19N3O3S/c1-10-8-18-15(11(2)16(10)23-4)9-24(21)17-19-13-6-5-12(22-3)7-14(13)20-17/h5-8H,9H2,1-4H3,(H,19,20
Indurgan
Inexium paranova
Inexium paranova (TN)
Inhibitron
Inhipump
LS-185188
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Mepral
 
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
MolPort-005-943-880
Mopral
Morecon
NCGC00016925-01
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium Control
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMZ
Ocid
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole (JAN/USP/INN)
Omeprazole S-form
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Perprazole
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UNII-N3PA6559FT
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
ZINC04693574
ZINC04693575
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
esomeprazole
esomeprazolum
omeprazole
Ésoméprazole
9
OmeprazolePhase 233173590-58-64594
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(S)-(-)-Omeprazole
(S)-Omeprazole
119141-89-8
131959-78-9
172964-80-6
2,3,5-Trimethylpyridine/Omeprazole
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Aulcer
Axagon
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazole
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Mepral
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
Mopral
Morecon
NCGC00016925-01
 
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMP
OMZ
Ocid
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy and Safety of Arbaclofen Placarbil in Subjects With Spasticity Due to Multiple SclerosisCompletedNCT01359566Phase 3
2T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma PigmentosumActive, not recruitingNCT00002811Phase 3
3A Study to Evaluate the Efficacy and Safety of Arbaclofen Placarbil (XP19986) as Adjunctive Therapy in Subjects With Gastroesophageal Reflux Disease (GERD)CompletedNCT00978016Phase 2
4A Study to Evaluate the Efficacy and Safety of Controlled Release Arbaclofen Placarbil (XP19986) in Patients With Gastroesophageal Reflux DiseaseCompletedNCT00838396Phase 2
5A Study to Evaluate the Safety and Tolerability of Arbaclofen Placarbil (XP19986) in Subjects With Acute Back SpasmsCompletedNCT00817986Phase 2
6A Safety and Efficacy Study of XP19986 in Subjects With Spasticity Due to Spinal Cord InjuryCompletedNCT00557973Phase 2
7An Efficacy and Safety Study of XP19986 in Subjects With Symptomatic GERDCompletedNCT00557401Phase 2

Search NIH Clinical Center for Xeroderma Pigmentosum, Group B

Genetic Tests for Xeroderma Pigmentosum, Group B

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Genetic tests related to Xeroderma Pigmentosum, Group B:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Complementation Group B25

Anatomical Context for Xeroderma Pigmentosum, Group B

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

34
Skin, Spinal cord

Animal Models for Xeroderma Pigmentosum, Group B or affiliated genes

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Publications for Xeroderma Pigmentosum, Group B

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Articles related to Xeroderma Pigmentosum, Group B:

idTitleAuthorsYear
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

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

68
id Symbol AA change Variation ID SNP ID
1ERCC3p.Phe99SerVAR_003632rs121913045

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group B:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC3ERCC3, IVS14AS, C-A, -6single nucleotide variantPathogenic
2ERCC3NM_000122.1(ERCC3): c.296T> C (p.Phe99Ser)single nucleotide variantPathogenicrs121913045GRCh37Chr 2, 128050361: 128050361
3ERCC3NM_000122.1(ERCC3): c.1273C> T (p.Arg425Ter)single nucleotide variantPathogenicrs121913047GRCh37Chr 2, 128044348: 128044348
4ERCC3ERCC3, 2-BP DEL, 807TTdeletionPathogenic
5ERCC3ERCC3, 1-BP INS, 1421AinsertionPathogenic
6ERCC3NM_000122.1(ERCC3): c.1633C> T (p.Gln545Ter)single nucleotide variantPathogenicrs121913048GRCh37Chr 2, 128036846: 128036846
7ERCC3ERCC3, IVS3DS, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Xeroderma Pigmentosum, Group B

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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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GO Terms for genes affiliated with Xeroderma Pigmentosum, Group B

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

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:00056759.3ERCC2, ERCC3, GTF2H1
2core TFIIH complexGO:00004399.2ERCC2, ERCC3, GTF2H1

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:000965010.3ERCC2, ERCC3
2hair cell differentiationGO:003531510.1ERCC2, ERCC3
3regulation of mitotic cell cycle phase transitionGO:190199010.1ERCC2, ERCC3
4nucleotide-excision repairGO:000628910.0ERCC2, ERCC3
5multicellular organism growthGO:00352649.8CDC42, ERCC2
6transcription elongation from RNA polymerase I promoterGO:00063629.8ERCC2, ERCC3, GTF2H1
7transcription initiation from RNA polymerase I promoterGO:00063619.8ERCC2, ERCC3, GTF2H1
8termination of RNA polymerase I transcriptionGO:00063639.8ERCC2, ERCC3, GTF2H1
9response to UVGO:00094119.8ERCC2, ERCC3
107-methylguanosine mRNA cappingGO:00063709.8ERCC2, ERCC3, GTF2H1
11transcription elongation from RNA polymerase II promoterGO:00063689.7ERCC2, ERCC3, GTF2H1
12transcription initiation from RNA polymerase II promoterGO:00063679.7ERCC2, ERCC3, GTF2H1
13transcription-coupled nucleotide-excision repairGO:00062839.6ERCC2, ERCC3, GTF2H1
14nucleotide-excision repair, preincision complex assemblyGO:00062949.5ERCC2, ERCC3, GTF2H1
15nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.5ERCC2, ERCC3, GTF2H1
16nucleotide-excision repair, DNA incisionGO:00336839.5ERCC2, ERCC3, GTF2H1
17global genome nucleotide-excision repairGO:00709119.5ERCC2, ERCC3, GTF2H1
18nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.4ERCC2, ERCC3, GTF2H1
19nucleotide-excision repair, preincision complex stabilizationGO:00062939.4ERCC2, ERCC3, GTF2H1
20nucleotide-excision repair, DNA duplex unwindingGO:00007179.4ERCC2, ERCC3, GTF2H1
21DNA repairGO:00062819.3ERCC2, ERCC3, GTF2H1
22regulation of Rho protein signal transductionGO:00350239.2BCR, MCF2
23protein phosphorylationGO:00064688.9BCR, ERCC2, ERCC3, GTF2H1
24regulation of small GTPase mediated signal transductionGO:00510568.9BCR, CDC42, MCF2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent DNA helicase activityGO:000400310.2ERCC2, ERCC3
2RNA polymerase II carboxy-terminal domain kinase activityGO:00083539.9ERCC2, ERCC3, GTF2H1
3protein kinase activityGO:00046729.8ERCC2, ERCC3, GTF2H1
4DNA-dependent ATPase activityGO:00080949.6ERCC2, ERCC3, GTF2H1
5Rho guanyl-nucleotide exchange factor activityGO:00050899.5BCR, MCF2
6helicase activityGO:00043869.5ERCC3, HELLS
7ATP bindingGO:00055247.7BCR, DNAH8, ERCC2, ERCC3, HELLS

Sources for Xeroderma Pigmentosum, Group B

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet