MCID: XRD013
MIFTS: 45

Xeroderma Pigmentosum, Group B malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer 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 49 11 65
Xeroderma Pigmentosum Complementation Group B 51 67 24
Xeroderma Pigmentosum Group B with Cockayne Syndrome 67
Xeroderma Pigmentosum Ii 67
Xp Group B 67
 
Xp-B/cs 67
Xp-B 67
Xpb 51
Xp2 67

Characteristics:

Orphanet epidemiological data:

51
xeroderma pigmentosum complementation group b:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

HPO:

61
xeroderma pigmentosum, group b:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 610651
Orphanet51 276252
ICD10 via Orphanet28 Q82.1
MeSH36 D014983
UMLS65 C0268136

Summaries for Xeroderma Pigmentosum, Group B

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UniProtKB/Swiss-Prot:67 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 hypogonadism, microcephaly and sensorineural hearing impairment. An important gene associated with Xeroderma Pigmentosum, Group B is ERCC3 (Excision Repair Cross-Complementation Group 3), and among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Regulation of RhoA activity. Affiliated tissues include skin, eye and spinal cord.

OMIM:49 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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Diseases in the Xeroderma Pigmentosum, Group B family:

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 42)
idRelated DiseaseScoreTop Affiliating Genes
1cockayne syndrome, type a10.3
2xeroderma pigmentosum, group a10.3
3endotheliitis10.3
4asthma10.2
5sleep apnea10.2
6otosclerosis10.2
7sleep disorder10.2
8hemophilia10.2
9acquired hemophilia10.2
10wallerian degeneration10.2
11hepatocellular carcinoma10.1
12chordoma10.1
13cartilage-hair hypoplasia10.1
14atherosclerosis10.1
15cholangiocarcinoma10.1
16gas gangrene10.1
17sinusitis10.1
18compensatory emphysema10.1
19sarcoma10.1
20penile cancer10.1
21hypertrophic cardiomyopathy10.1
22uterine fibroid10.1
23urinary schistosomiasis10.1
24schistosomiasis10.1
25sclerosing cholangitis10.1
26cystitis10.1
27acromegaly10.1
28aortic aneurysm10.1
29cholangitis10.1
30cardiomyopathy10.1
31aneurysm10.1
32trichothiodystrophy 1, photosensitive10.1ERCC2, ERCC3
33xeroderma pigmentosum, group c10.1ERCC3, GTF2H1
34acrodermatitis enteropathica10.0ERCC2, ERCC3
35synpolydactyly10.0ERCC2, ERCC3
36qazi markouizos syndrome10.0ERCC2, ERCC3
37y-linked disease10.0ERCC2, ERCC3
38anemia, hemolytic, rh-null, regulator type9.9ERCC2, ERCC3
39periarthritis9.8ERCC2, ERCC3
40cerebrooculofacioskeletal syndrome 29.8ERCC2, ERCC3, GTF2H1
41ovarian dysgenesis 29.7CDC42, MCF2
42xeroderma pigmentosum, group b8.6BCR, CDC42, ERCC2, ERCC3, GTF2H1, MCF2

Graphical network of the top 20 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 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BaclofenapprovedPhase 3, Phase 2911134-47-02284
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
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
Gablofen
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
2Arbaclofen placarbilinvestigationalPhase 3, Phase 27847353-30-4
3Peripheral Nervous System AgentsPhase 3, Phase 218510
4Neuromuscular AgentsPhase 3, Phase 2922
5Neurotransmitter AgentsPhase 3, Phase 214795
6GABA-B Receptor AgonistsPhase 3, Phase 210
7Contraceptives, OralPhase 3, Phase 23734
8GABA AgonistsPhase 3, Phase 2120
9
PantoprazoleapprovedPhase 2166102625-70-74679
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
Pantoprazole (USAN/INN)
Pantoprazole Magnesium
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
Tecta
UNII-D8TST4O562
pantoprazole
10
Lansoprazoleapproved, investigationalPhase 2198103577-45-33883
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
Careone Lansoprazole
Compraz
D00355
DB00448
Dakar
Dg Health Lansoprazole
DivK1c_000920
EU-0100709
Equaline Lansoprazole
Equate Lansoprazole Delayed Release
Exchange Select Lansoprazole
FT-0082011
Good Neighbor Pharmacy Lansoprazole
Good Sense Lansoprazole
HMS1571G06
HMS1922M04
HMS2052F05
HMS2093M07
HMS502N22
HSDB 7204
Health Mart Lansoprazole
Healthy Accents Lansoprazole
Heartburn Relief 24 Hour
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
Kirkland Signature Lansoprazole Delayed Release
L 8533
L8533_SIGMA
LS-33080
Lancid
Lanfast
Lanproton
Lansopep
Lansophed
Lansoprazol
Lansoprazol [INN-Spanish]
Lansoprazole
Lansoprazole (JAN/USP/INN)
Lansoprazole Heartburn Relief 24 Hour
Lansoprazole [USAN:BAN:INN]
Lansoprazole [Usan:Ban:Inn]
Lansoprazolum
Lansoprazolum [INN-Latin]
Lansox
 
Lanston
Lanz
Lanzo
Lanzol
Lanzol-30
Lanzopral
Lanzor
Lanzul
Lapraz
Lasoprol
Leader Lansoprazole
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
Preferred Plus Lansoprazole
Prestwick0_001072
Prestwick1_001072
Prestwick2_001072
Prestwick3_001072
PrevOnco
Prevacid
Prevacid (TN)
Prevacid 24 HR
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
Rugby Heartburn Treatment
S1354_Selleck
SAM001246544
SMR000058469
SPBio_000488
SPBio_002992
SPECTRUM1503926
STK621169
Salvar Brand of Lansoprazole
Shoprite Lansoprazole
Simply Right Lansoprazole
Smart Sense Acid Reducer
Spectrum2_000444
Spectrum3_000295
Spectrum4_000856
Spectrum5_001521
Spectrum_001580
Sunmark Lansoprazole
Suprecid
TAK 390MR
TAK-390MR
TAK390MR
TAP Brand of Lansoprazole
TL8000155
Takeda Brand of Lansoprazole
Takepron
Tecnobio Brand of Lansoprazole
Topcare Lansoprazole
UNII-0K5C5T2QPG
Ulpax
Vinas Brand of Lansoprazole
Well At Walgreens Lansoprazole
Wyeth Brand of Lansoprazole
Zoprol
Zoton
lansoprazole
lansoprazole sulphone
lanzoprazole
11
Esomeprazoleapproved, investigationalPhase 2308161796-78-74594, 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 I.V.
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 [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
12
Rabeprazoleapproved, investigationalPhase 2142117976-89-35029
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 Sodium
Rabeprazole [BAN:INN]
Rabeprazole [INN:BAN]
Rabeprazole sodium
Rebeprazole sodium
SAM001246619
SMR000469174
Sodium rabeprazole
UNII-32828355LL
dexrabeprazole
rabeprazole
rabeprazole sodium
13
Omeprazoleapproved, investigationalPhase 232173590-58-64594
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
Being Well Omeprazole
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Care One Omeprazole
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dg Health Omeprazole
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Equaline Omeprazole
Equate Omeprazole Delayed Release acid reducer
Erbolin
Esomeprazole
Esomperazole
Esopral
Exchange Select Omeprazole
Exter
Family Wellness Omeprazole
Formu Care Omeprazole
Fulton Street Market Omeprazole
Gasec
Gastrimut
Gastroloc
Gibancer
Good Neighbor Pharmacy Omeprazole
Good Sense Omeprazole
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
Harmon Face Values Omeprazole
Health Mart Omeprazole
Healthy Accents Omeprazole
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
Kirkland Signature Omeprazole
LS-7629
Leader Omeprazole
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Members Mark Omeprazole
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
Olex
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Delayed Release
Omeprazole Delayed-release
Omeprazole Magnesium
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazole sodium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesec
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Preferred Plus Omeprazole
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Quality Choice Omeprazole
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
Shoprite Omeprazole
Simply Right Omeprazole
Smart Sense Omeprazole
Sunmark Omeprazole
TL8005099
Tedec Ulceral
Topcare Omeprazole
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
14
Proton pump inhibitorsPhase 2958
Synonyms:
 
PPIs
15AntacidsPhase 21453
16Anti-Ulcer AgentsPhase 21453
17
DexlansoprazolePhase 2198138530-94-6, 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
18Gastrointestinal AgentsPhase 26401

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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Anatomical Context for Xeroderma Pigmentosum, Group B

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

33
Skin, Eye, Spinal cord, Heart

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
Cross-sectional evaluation of parental decision making factors for vesicoureteral reflux management in children. (20728107)
2010
2
Channelopathies: the nondystrophic myotonias and periodic paralyses. (8795846)
1996
3
Protein kinase Calpha contains two activator binding sites that bind phorbol esters and diacylglycerols with opposite affinities. (8617724)
1996
4
Increased angiotensin-I converting enzyme gene expression in the failing human heart. Quantification by competitive RNA polymerase chain reaction. (8040271)
1994
5
Gastric carcinoma 16 years after gastric lymphoma irradiation. (580164)
1977
6
Inferior mesenteric vascular occlusion: sigmoidoscopic diagnosis. (13808037)
1959

Variations for Xeroderma Pigmentosum, Group B

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

67
id Symbol AA change Variation ID SNP ID
1ERCC3p.Phe99SerVAR_003632

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

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.5ERCC2, ERCC3
29.2BCR, MCF2
39.2BCR, MCF2
49.2BCR, MCF2
59.0CDC42, MCF2
6
Show member pathways
9.0ERCC2, ERCC3, GTF2H1
7
Show member pathways
9.0ERCC2, ERCC3, GTF2H1
8
Show member pathways
9.0ERCC2, ERCC3, GTF2H1
99.0ERCC2, ERCC3, GTF2H1
10
Show member pathways
9.0ERCC2, ERCC3, GTF2H1
11
Show member pathways
9.0ERCC2, ERCC3, GTF2H1
12
Show member pathways
9.0ERCC2, ERCC3, GTF2H1
138.6BCR, CDC42, MCF2
14
Show member pathways
8.6BCR, ERCC2, ERCC3, GTF2H1

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group B

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:000965010.2ERCC2, ERCC3
2nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.0ERCC3, GTF2H1
3transcription elongation from RNA polymerase II promoterGO:000636810.0ERCC2, GTF2H1
4transcription initiation from RNA polymerase I promoterGO:000636110.0ERCC3, GTF2H1
5transcription elongation from RNA polymerase I promoterGO:000636210.0ERCC2, ERCC3
6response to UVGO:00094119.9ERCC2, ERCC3
7nucleotide-excision repair, preincision complex assemblyGO:00062949.8ERCC3, GTF2H1
8response to oxidative stressGO:00069799.8ERCC2, ERCC3
9transcription from RNA polymerase I promoterGO:00063609.6ERCC2, ERCC3, GTF2H1
10nucleotide-excision repair, preincision complex stabilizationGO:00062939.6ERCC2, ERCC3, GTF2H1
11transcription-coupled nucleotide-excision repairGO:00062839.5ERCC2, ERCC3, GTF2H1
12termination of RNA polymerase I transcriptionGO:00063639.5ERCC2, ERCC3, GTF2H1
13nucleotide-excision repair, DNA incisionGO:00336839.4ERCC2, GTF2H1
14viral processGO:00160329.3ERCC2, ERCC3, GTF2H1
15transcription initiation from RNA polymerase II promoterGO:00063679.3ERCC2, ERCC3, GTF2H1
16regulation of small GTPase mediated signal transductionGO:00510569.2CDC42, MCF2
17global genome nucleotide-excision repairGO:00709119.2ERCC2, ERCC3, GTF2H1
18positive regulation of transcription from RNA polymerase II promoterGO:00459449.1ERCC2, ERCC3, GTF2H1
19protein phosphorylationGO:00064689.0BCR, ERCC2, GTF2H1
20nucleotide-excision repair, DNA duplex unwindingGO:00007178.9ERCC2, ERCC3, GTF2H1
21DNA repairGO:00062818.7ERCC2, ERCC3, GTF2H1

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

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:00080949.5ERCC2, ERCC3

Sources for Xeroderma Pigmentosum, Group B

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet