MCID: VNW006
MIFTS: 32

Von Willebrand Disease, Types 2a, 2b, 2m, and 2n malady

Genetic diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

About this section
Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

Name: Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 49 11
Von Willebrand Disease Type 2 51 24
Von Willebrand Disease Normandy Variant 67
Von Willebrand Factor Deficiency Type 2 67
Von Willebrand Disease Type I New York 67
Von Willebrand Disease Type 2 Malmo 67
Von Willebrand Disease, Type 2 65
Von Willebrand Disease Type Ii 67
Von Willebrand Disease Type 2b 67
 
Von Willebrand Disease Type 2n 67
Von Willebrand Disease Type 2m 67
Von Willebrand Disease Type 2a 67
Von Willebrand Disease 2 67
Vwd2n 67
Vwd2b 67
Vwd2m 67
Vwd2a 67
Vwd2 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
von willebrand disease type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages


External Ids:

OMIM49 613554
Orphanet51 166081
ICD10 via Orphanet28 D68.0
MESH via Orphanet37 D056728
UMLS via Orphanet66 C1264040
MeSH36 D056728

Summaries for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

About this section
OMIM:49 Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous... (613554) more...

MalaCards based summary: Von Willebrand Disease, Types 2a, 2b, 2m, and 2n, also known as von willebrand disease type 2, is related to type 2n von willebrand disease and type 2m von willebrand disease, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and menorrhagia. An important gene associated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n is VWF (Von Willebrand Factor).

UniProtKB/Swiss-Prot:67 Von Willebrand disease 2: A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet- dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.

Related Diseases for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Graphical network of the top 20 diseases related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:



Diseases related to von willebrand disease, types 2a, 2b, 2m, and 2n

Symptoms for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Symptoms by clinical synopsis from OMIM:

613554

Clinical features from OMIM:

613554

HPO human phenotypes related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 menorrhagia HP:0000132
4 epistaxis HP:0000421
5 bruising susceptibility HP:0000978
6 variable expressivity HP:0003828

Drugs & Therapeutics for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Drugs for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Repaglinideapproved, investigationalPhase 448135062-02-165981
Synonyms:
(+)-2-Ethoxy-alpha-(((S)-alpha-isobutyl-o-piperidinobenzyl)carbamoyl)-p-toluic acid
(S)-(+)-2-Ethoxy-4-[N-[1-(2-piperidinophenyl)-3-methyl-1-butyl]aminocarbonylmethyl]benzoic acid
(S)-2-Ethoxy-4-(2-((methyl-1-(2-(1-piperidinyl)phenyl)butyl)amino)-2-oxoethyl)-benzoic acid
(S)-2-ethoxy-4-(2-((3-methyl-1-(2-(1-piperidinyl)-phenyl)butyl)amino)-2-oxoethyl)-benzoic acid
111GE012
135062-02-1
2-ethoxy-4-(2-((3-methyl-1-(2-(1-piperidinyl)phenyl)butyl)amino)-2-oxoethyl)benzoic acid
2-ethoxy-4-(2-{[(1S)-3-methyl-1-(2-piperidin-1-ylphenyl)butyl]amino}-2-oxoethyl)benzoic acid
2-ethoxy-4-[2-({(1S)-3-methyl-1-[2-(piperidin-1-yl)phenyl]butyl}amino)-2-oxoethyl]benzoic acid
2-ethoxy-4-[2-[[(1S)-3-methyl-1-(2-piperidin-1-ylphenyl)butyl]amino]-2-oxoethyl]benzoic acid
2-ethoxy-N-(alpha-(2-methyl-1-propyl)-2-piperidinobenzyl)-4-carbamoylmethylbenzoic acid
AB00514019
AC-726
AC1L24D5
AC1Q5TZW
AG-EE 388
AG-EE 388 ZW
AG-EE 623 ZW
AG-EE-388
AG-EE-623 ZW
AGEE-623ZW
Actulin
BIDD:GT0338
BPBio1_001070
BRD-K82846253-001-03-0
BSPBio_000972
Bio-0087
C072379
C07670
C27H36N2O4
CAS-135062-02-1
CHEBI:348669
CHEMBL1272
CID65981
CPD000466305
D00594
DB00912
Glaxo Wellcome brand of replaginide
 
GlucoNorm
HMS1571A14
HMS2051N08
HMS2094C07
LS-38509
MLS000759407
MLS001076684
MolPort-003-850-140
NCGC00016978-01
NCGC00016978-02
NN-623
Novo Nordisk brand 2 of repaglinide
Novo Nordisk brand of repaglinide
NovoNorm
Prandin
Prandin (TN)
Prandin, GlucoNorm, NovoNorm, Repaglinide
Prestwick0_001046
Prestwick1_001046
Prestwick2_001046
Prestwick3_001046
R9028_SIGMA
Repaglinida
Repaglinida [INN-Spanish]
Repaglinide
Repaglinide (JAN/USP/INN)
Repaglinide [USAN]
Repaglinidum
Repaglinidum [INN-Latin]
S1426_Selleck
SAM001246546
SMP-508
SMR000466305
SPBio_002906
STK629501
Surepost
UNII-668Z8C33LU
repa-glinide
repaglinide
repaglinide, (+-)-isomer
2
MetforminapprovedPhase 4, Phase 31573657-24-9, 1115-70-414219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMBG
DMGG
Diabefagos
Diabetosan
Diabex
Diaformin
Dianben
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Meguan
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin Hydrochloride
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
Obimet
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
3
Insulin AspartapprovedPhase 4412116094-23-616132418
Synonyms:
(AspB28)-human insulin
1024611-56-0
116094-23-6
139532-40-4
28(sup B)-L-Aspartic acid-insulin (human)
877034-90-7
AspB28-insulin (human)
Aspart
Aspart Insulin
Aspart insulin
B28-Asp-insulin
B28-Aspart-Insulin
INA-X 14
 
INA-X14
Insulin X14
Insulin aspart
Insulin aspart [USAN]
Insulin, Asp(B28)
LS-185932
NovoLog
NovoMix 30
NovoRapid
NovoRapid 30 Mix
Novolog
Novolog Mix 70/30
Novolog mix 70/30
UNII-D933668QVX
4
AtorvastatinapprovedPhase 4690134523-00-560823
Synonyms:
(3R,5R)-7-[2-(4-fluorophenyl)-3-phenyl-4-(phenylcarbamoyl)-5-propan-2-ylpyrrol-1-yl]-3,5-dihydroxyheptanoic acid
(3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-2-isopropyl-4-phenyl-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid
(R-(R*,R*))-2-(4-Fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid
(betaR,deltaR)-2-(p-Fluorophenyl)-beta,delta-dihydroxy-5-isopropyl-3-phenyl-4-(phenylcarbamoyl)pyrrole-1-heptanoic acid
134523-00-5
134523-03-8
7-[2-(4-FLUORO-PHENYL)-5-ISOPROPYL-3-PHENYL-4-PHENYLCARBAMOYL-PYRROL-1-YL]- 3,5-DIHYDROXY-HEPTANOIC ACID
AC-15611
AC1L1TZT
AC1Q1OZQ
AKOS000281127
Atogal
Atorlip
Atorpic
Atorvastatin
Atorvastatin (INN)
Atorvastatin Calcium
Atorvastatin [INN:BAN]
Atorvastatin acid
Atorvastatin calcium
BIDD:GT0336
C06834
C33H35FN2O5
CCRIS 7159
CHEBI:39548
CHEMBL1487
CI 981
CID60823
Cardyl
D07474
DB01076
Faboxim
 
HSDB 7039
Hipolixan
LS-136975
Lipitor
Lipitor (TN)
Lipitor(TM)
Lipotropic
Lipovastatinklonal
Liprimar
Lowden
MolPort-000-883-773
NCGC00159458-02
Normalip
Sincol
Sortis
Sortis (TN)
Sotis
Torvacard
Torvast
Totalip
Tozalip
Tulip
UNII-A0JWA85V8F
Vastina
Xanator
Xarator
Xavator
Zurinel
atorvastatin
atorvastatina
atorvastatine
atorvastatinium
atrovastin
nchembio.301-comp8
5
SimvastatinapprovedPhase 448279902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
6Factor VIIIPhase 4, Phase 3, Phase 2, Phase 1265
7insulinPhase 44069
8CoagulantsPhase 4, Phase 3, Phase 2, Phase 1983
9Arginine VasopressinPhase 4163
10Insulin, Globin ZincPhase 44069
11VasopressinsPhase 4159
12Deamino Arginine VasopressinPhase 4, Phase 265
13arginineNutraceuticalPhase 4346
14
LiraglutideapprovedPhase 3257204656-20-2
Synonyms:
204656-20-2
Arg34Lys26-(N-ε-(γ-Glu(N-α-hexadecanoyl)))-GLP-1[7-37]
C439759
Liraglutida
Liraglutida [INN-Spanish]
Liraglutide
Liraglutide [USAN:INN]
Liraglutidum
Liraglutidum [INN-Latin]
N26-(Hexadecanoyl-gamma-glutamyle)-(34-arginine)GLP-1-(7-37)-peptide
N26-(Hexadecanoyl-gamma-glutamyle)-(34-arginine)glucagon-like-peptide-1-(7-37)-peptide
 
NN 2211
NN-2211
NN2211
NNC 90-1170
N²⁶-(N-Hexadecanoyl-L-gamma-glutamyl)-[34-L-arginine]glucagon-like peptide 1-(7-37)-peptide
N²⁶-(hexadecanoyl-gamma-glutamyle)-[34-arginine]GLP-1-(7-37)-peptide
Saxenda
UNII-839I73S42A
Victoza
nn 2211
nn2211
victoza
15
GlimepirideapprovedPhase 321493479-97-13476
Synonyms:
1-((p-(2-(3-Ethyl-4-methyl-2-oxo-3-pyrroline-1-carboxamido)ethyl)phenyl)sulfonyl)-3-(trans-4-methylcyclohexyl)urea
1-{[4-(2-{[(3-ethyl-4-methyl-2-oxo-2,5-dihydro-1H-pyrrol-1-yl)carbonyl]amino}ethyl)phenyl]sulfonyl}-3-(trans-4-methylcyclohexyl)urea
3-ethyl-4-methyl-N-[2-(4-{[(trans-4-methylcyclohexyl)carbamoyl]sulfamoyl}phenyl)ethyl]-2-oxo-2,5-dihydro-1H-pyrrole-1-carboxamide
3-ethyl-4-methyl-n-(4-(n-((1r,4r)-4-methylcyclohexylcarbamoyl)sulfamoyl)phenethyl)-2-oxo-2,5-dihydro
4-ethyl-3-methyl-N-[2-[4-[(4-methylcyclohexyl)carbamoylsulfamoyl]phenyl]ethyl]-5-oxo-2H-pyrrole-1-carboxamide
64598P
93479-97-1
AB00513874
AC-476
AC1L1G0T
Amarel
Amaryl
Amaryl (TN)
Amaryl, Glista OD, Glimepiride
Avaglim
BPBio1_000751
BRD-K34776109-001-03-4
BRD-K42693031-001-01-8
BRN 5365754
BSPBio_000681
Bio-0049
C07669
C24H34N4O5S
CAS-93479-97-1
CCRIS 7083
CHEBI:5383
CHEMBL1481
CID3476
CPD000466368
D00593
DB00222
Endial
G2295_SIGMA
Glimepirid
Glimepirida
Glimepirida [Spanish]
Glimepiride
Glimepiride (JAN/USP/INN)
Glimepiride [USAN:BAN:INN]
Glimepiridum
 
Glimepiridum [Latin]
Glimepride
Glimer
Glimépiride
Glymepirid
HMS1570C03
HMS2052L03
HMS2090K18
HOE 490
Hoe-490
I06-0029
I06-2285
LS-136752
MLS000759495
MLS001076674
MLS001401419
MolPort-003-847-587
MolPort-003-987-461
MolPort-005-941-721
NCGC00016960-01
NCGC00161404-01
NCGC00161404-02
NCGC00181757-01
Novo-glimepiride
Oprea1_382896
PMS-glimepiride
Prestwick0_000651
Prestwick1_000651
Prestwick2_000651
Prestwick3_000651
Ratio-glimepiride
Roname
S1344_Selleck
SAM001246710
SMR000466368
SPBio_002602
Sandoz glimepiride
Solosa
TL8005924
UNII-6KY687524K
ZINC00537791
glimepiride
16
Pioglitazoneapproved, investigationalPhase 3405111025-46-84829
Synonyms:
(+-)-5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+/-)-5-[[4-[2-(5-Ethyl-2-pyridinyl)-ethoxy]phenyl]methyl]-2,4-thiazolidinedione
(+/-)-5-[p-[2-(ethyl-2-pyridyl)ethoxy]benzyl]-2,4-thiazolidinedione
105355-27-9
111025-46-8
198077-89-3
2,4-Thiazolidinedione, 5-[[4-[2-(5-ethyl-2-pyridinyl)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-(4-(2-(5-ethyl-2-pyridyl)ethoxy)benzyl)-2,4-thiazolidinedione
5-[4-[2-(5-Ethyl-2-pyridyl)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(5-Ethyl-2-pyridinyl)ethoxy]phenyl]methyl]-2,4-thiazolidinedione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]thiazolidine-2,4-dione
5-[[4-[2-[(5-ethyl-2-pyridyl)]ethoxy]phenyl]methyl]thiazolidine- 2,4-dione
5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione
AB1004597
AC-1021
AC1L1J1Q
AD 4833
AD-4833
Actos
Actos (TN)
Actost
BRD-A48430263-003-02-4
BSPBio_002723
C07675
C19H20N2O3S
CHEBI:8228
CHEMBL595
CID4829
D08378
DB01132
Duetact
Glustin
HMS2089H14
HS-0047
 
HSDB 7322
I06-0089
KBio2_002103
KBio2_004671
KBio2_007239
KBio3_001943
KBioGR_001619
KBioSS_002103
LS-151327
MolPort-002-508-211
NCGC00163128-01
NCGC00163128-02
Pioglitazona
Pioglitazona [INN-Spanish]
Pioglitazone
Pioglitazone HCl
Pioglitazone Hydrochloride
Pioglitazone [BAN:INN]
Pioglitazone [Ban:Inn]
Pioglitazone [INN:BAN]
Pioglitazonum
Pioglitazonum [INN-Latin]
SPBio_001897
Spectrum2_001679
Spectrum3_001002
Spectrum4_001130
Spectrum5_001480
Spectrum5_002067
Spectrum_001623
U 72107
U 72107A
U-72107
U72,107A
UNII-X4OV71U42S
Zactos
nchembio790-comp10
pioglitazone (INN)
pioglitazone HCl
17
Sitagliptinapproved, investigationalPhase 3381486460-32-64369359
Synonyms:
(2R)-4-OXO-4-[3-(TRIFLUOROMETHYL)-5,6-DIHYDRO[1,2,4]TRIAZOLO[4,3-A]PYRAZIN-7(8H)-YL]-1-(2,4,5-TRIFLUOROPHENYL)BUTAN-2-AMINE
(2R)-4-OXO-4-[3-(trifluoromethyl)-5,6-dihydro[1,2,4]triazolo[4,3-a]pyrazin-7(8H)-yl]-1-(2,4,5-trifluorophenyl)butan-2-amine
(3R)-3-Amino-1-[3-(trifluoromethyl)-5,6,7,8-tetrahydro-1,2,4-triazolo[4,3-a]pyrazin-7-yl]-4-(2,4,5-trifluorophenyl)butan-1-one
(3R)-3-amino-1-[3-(trifluoromethyl)-5,6-dihydro[1,2,4]triazolo[4,3-a]pyrazin-7(8H)-yl]-4-(2,4,5-trifluorophenyl)butan-1-one
(3R)-3-amino-1-[3-(trifluoromethyl)-6,8-dihydro-5H-[1,2,4]triazolo[4,3-a]pyrazin-7-yl]-4-(2,4,5-trifluorophenyl)butan-1-one
1x70
486460-32-6
AB1004599
AC1N9ZYR
BRD-K19416115-001-01-2
BSPBio_002262
CHEBI:40237
CHEMBL1422
CID4369359
D08516
DB01261
 
DB07214
HMS2093F20
HSDB 7516
Janumet
Januvia
Januvia (merck & Co.)
LS-187389
MK-0431
MolPort-003-666-756
Sitagliptan
Sitagliptin
Sitagliptin (Prop.INN)
Sitagliptin phosphate
Sitagliptina
Sitagliptine
Sitagliptinum
UNII-QFP0P1DV7Z
Xelevia
18
Tranexamic AcidapprovedPhase 31991197-18-85526
Synonyms:
08455_FLUKA
1197-17-7
1197-18-8
1ceb
3-14-00-00868 (Beilstein Handbook Reference)
4-(Aminomethyl)-Cyclohexanecarboxylic Acid
4-(Aminomethyl)cyclohexanecarboxylic acid
4-(aminomethyl)cyclohexane-1-carboxylic acid
857653_ALDRICH
A0236
AB00052260
AB1003647
AC-4687
AC1L1KJH
AC1Q50F3
AC1Q546D
AC1Q5U04
ALBB-006013
AMCA
AMCHA
AMH
AR-1F6595
Acide tranexamique
Acide tranexamique [INN-French]
Acido tranexamico
Acido tranexamico [INN-Spanish]
Acidum tranexamicum
Acidum tranexamicum [INN-Latin]
Amikapron
Amstat
Anvitoff
BAY 3517
BPBio1_000069
BRN 2207452
BSPBio_000061
BSPBio_002837
CAS-1197-18-8
CHEBI:48669
CHEMBL292500
CHEMBL877
CID5526
CL 65336
CL-65336
Carxamin
Cyclocapron
Cyklokapron
Cyklokapron (TN)
D01136
DB00302
DV 79
DV-79
DV79
DivK1c_000655
EINECS 214-818-2
Emorhalt
Exacyl
Frenolyse
HMS1568D03
HMS1921F08
HMS2092P03
HMS502A17
Hexapromin
Hexatron
I04-0993
IDI1_000655
KABI 2161
KBio1_000655
KBio2_001871
KBio2_004439
KBio2_007007
KBio3_002337
KBioGR_000511
KBioSS_001871
 
LS-56611
LS-56612
LT00159441
Lysteda
Mastop
MolPort-001-792-390
MolPort-002-512-008
NCGC00016569-01
NCGC00016569-02
NCGC00016569-03
NCGC00094944-01
NCGC00094944-02
NINDS_000655
NSC 291305
NSC291305
Oprea1_786414
Prestwick0_000171
Prestwick1_000171
Prestwick2_000171
Prestwick3_000171
Prestwick_476
RP 18,429
Rikavarin
Rikavarin (TN)
Rikavarin-S
SPBio_000689
SPBio_001982
SPECTRUM1502026
STK503668
STOCK1N-16183
Spectrum2_000655
Spectrum3_001189
Spectrum4_000046
Spectrum5_001258
Spectrum_001391
Spiramin
Tamcha
Tranex
Tranexamate
Tranexamic Acid
Tranexamic acid (JP15/USAN/INN)
Tranexamic acid [USAN:INN:BAN:JAN]
Tranexamic acid cis-form
Tranexamsaeure
Tranexan
Tranexmic acid
Tranhexamic acid
Trans AMCHA
Trans-1-(Aminomethyl)cyclohexane-4-carboxylic acid
Trans-4-(Aminomethyl)-1-cyclohexanecarboxylic acid
Trans-p-(Aminomethyl)cyclohexanecarboxylic
Transamin
Transamin (TN)
Transamlon
Trasamlon
UNII-6T84R30KC1
Ugurol
WLN: L6TJ AVQ D1Z -T
cis-4-(Aminomethyl)cyclohexanecarboxylic acid
cis-4-Aminomethylcyclohexane-1-carboxylic acid
cis-AMCHA
t-AMCHA
tranexamic acid
tranexmic acid
trans-1-Aminomethylcyclohexane-4-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-1-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-carboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid ester
trans-4-Aminomethylcyclohexane-1-carboxylic acid
trans-4-aminomethylcyclohexane-1-carboxylic acid
trans-Amcha
trans-Tranexamic acid
trans-p-(Aminomethyl)cyclohexanecarboxylic acid
19glucagonPhase 3415
20Glucagon-Like Peptide 1Phase 3652
21
Oprelvekinapproved, investigationalPhase 216145941-26-0
Synonyms:
145941-26-0
AGIF
Adipogenesis inhibitory factor
D05266
IL-11
 
Interleukin-11 precursor
Neumega
Neumega (TN)
Oprelvekin
Oprelvekin (USAN/INN)
Oprelvekin (genetical recombination)
Oprelvekin (genetical recombination) (JAN)
22
Folic Acidapproved, nutraceutical285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
23Vitamin B Complex2775
24Vitamin B9Nutraceutical2851
25Folinic AcidNutraceutical2498
26FolateNutraceutical2851

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement SurgeryCompletedNCT01994330Phase 4
2Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and DietCompletedNCT00118937Phase 4
3Effect of Repaglinide Versus Metformin Treatment in Non-Obese Patients With Type-2-DiabetesCompletedNCT00118963Phase 4
4Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand PatientsRecruitingNCT00555555Phase 4
5Efficacy and Safety of DLBS1033 in Subjects With Type 2 Diabetes MellitusRecruitingNCT01865474Phase 4
6Oxidative Stress Lowering Effect of Simvastatin and Atorvastatin.RecruitingNCT00404599Phase 4
7Pharmacokinetics, Safety and Efficacy of Recombinant Von Willebrand Factor (rVWF) in the Treatment of Bleeding Episodes in Von Willebrand Disease (VWD)CompletedNCT01410227Phase 3
8Efficacy of Pioglitazone/Metformin Combination Therapy in Subjects With Type 2 Diabetes Mellitus and Dyslipidemia.CompletedNCT00770653Phase 3
9The Effect of Liraglutide Compared to Sitagliptin, Both in Combination With Metformin on Glycaemic Control in Subjects With Type 2 Diabetes MellitusCompletedNCT00700817Phase 3
10Minimize Menorrhagia in Women With Type 1 Von Willebrand DiseaseNot yet recruitingNCT02606045Phase 3
11ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function DisordersCompletedNCT00632242Phase 2
12IL-11 in Women With Von Willebrand Disease and Refractory MenorrhagiaCompletedNCT00524342Phase 2
13A Study to Compare the Pharmacokinetics and Safety of Optivate® and Haemate P® in Patients With Von Willebrand Disease.CompletedNCT02250508Phase 2
14Phase II Study of IL-11 (Neumega) in Von Willebrand DiseaseCompletedNCT00151125Phase 2
15IL-11 in Adults With Von Willebrand Disease Undergoing SurgeryTerminatedNCT00524225Phase 2
16A Study of the Pharmacokinetics, Pharmacodynamics, and Safety of ARC1779 Injection in Patients With Von Willebrand Disease Type 2BWithdrawnNCT00694785Phase 2
17Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand DiseaseCompletedNCT00816660Phase 1
18A Study of Hypoxia-inducible Factor 1a (HIF1A) Messenger Ribonucleic Acid (mRNA) Antagonist (RO7070179), to Demonstrate Proof-of-mechanism in Adult Participants With Hepatocellular Carcinoma (HCC)RecruitingNCT02564614Phase 1
19Phase 1 Dose Escalation, Single Dose Study to Assess Safety and Pharmacokinetics of BAX930 in Hereditary Thrombotic Thrombocytopenic Purpura (TTP)Active, not recruitingNCT02216084Phase 1
20The Effect of Folic Acid Administration in the Progression of MicroalbuminuriaCompletedNCT00737126
21Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)RecruitingNCT01257269
22International Immune Tolerance StudyTerminatedNCT00212472

Search NIH Clinical Center for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

Genetic Tests for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Genetic tests related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

id Genetic test Affiliating Genes
1 Von Willebrand Disease Type 224

Anatomical Context for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Animal Models for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n or affiliated genes

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Publications for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Variations for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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UniProtKB/Swiss-Prot genetic disease variations for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

67 (show all 36)
id Symbol AA change Variation ID SNP ID
1VWFp.Asn528SerVAR_005783
2VWFp.Gly550ArgVAR_005784
3VWFp.Thr791MetVAR_005786
4VWFp.Arg816TrpVAR_005787
5VWFp.Arg854GlnVAR_005789rs41276738
6VWFp.Pro1266LeuVAR_005791
7VWFp.His1268AspVAR_005792
8VWFp.Cys1272ArgVAR_005793
9VWFp.Arg1306TrpVAR_005794
10VWFp.Arg1308CysVAR_005795
11VWFp.Trp1313CysVAR_005796
12VWFp.Val1314LeuVAR_005797
13VWFp.Val1316MetVAR_005798
14VWFp.Val1318LeuVAR_005799
15VWFp.Gly1324SerVAR_005800
16VWFp.Arg1341GlnVAR_005801
17VWFp.Arg1374CysVAR_005802
18VWFp.Arg1374HisVAR_005803
19VWFp.Leu1460ValVAR_005806
20VWFp.Ala1461ValVAR_005807
21VWFp.Phe1514CysVAR_005808
22VWFp.Leu1540ProVAR_005809
23VWFp.Arg1597GlyVAR_005811
24VWFp.Arg1597GlnVAR_005812
25VWFp.Arg1597TrpVAR_005813
26VWFp.Val1607AspVAR_005814
27VWFp.Gly1609ArgVAR_005815
28VWFp.Ser1613ProVAR_005816
29VWFp.Ile1628ThrVAR_005817
30VWFp.Glu1638LysVAR_005818
31VWFp.Pro1648SerVAR_005819
32VWFp.Val1665GluVAR_005820
33VWFp.Cys2773ArgVAR_005822
34VWFp.Cys788TyrVAR_009141
35VWFp.Cys1060ArgVAR_028446
36VWFp.Cys1272PheVAR_067340

Clinvar genetic disease variations for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

5
id Gene Variation Type Significance SNP ID Assembly Location
1VWFNM_000552.3(VWF): c.3437A> G (p.Tyr1146Cys)single nucleotide variantPathogenicrs267607326GRCh37Chr 12, 6132007: 6132007
2VWFVWF, TRP1745CYSundetermined variantPathogenic
3VWFNM_000552.3(VWF): c.5347T> G (p.Ser1783Ala)single nucleotide variantPathogenicrs267607353GRCh37Chr 12, 6125363: 6125363

Expression for genes affiliated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Search GEO for disease gene expression data for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n.

Pathways for genes affiliated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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GO Terms for genes affiliated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Sources for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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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