MCID: VNW006
MIFTS: 37

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

Categories: Genetic diseases, Blood diseases, Rare diseases

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

About this section
Sources:
11Disease Ontology, 12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 51 12
Von Willebrand Disease Type 2m 53 69 26 67
Von Willebrand Disease Type 2b 53 69 26
Von Willebrand Disease, Type 2 51 38 67
Von Willebrand Disease Type 2a 53 69 26
Von Willebrand Disease Type 2n 53 69 26
Von Willebrand Disease Type Ii 69 26
Von Willebrand Disease Normandy Variant 69
Von Willebrand Factor Deficiency Type 2 69
Von Willebrand Disease Type I New York 69
Von Willebrand Disease Type 2 Malmo 69
 
Von Willebrand Disease, Type 2a 67
Von Willebrand Disease, Type 2n 67
Von Willebrand Disease, Type 2b 67
Von Willebrand Disease Type 2 53
Von Willebrand's Disease 2 11
Von Willebrand Disease 2 69
Vwd2n 69
Vwd2a 69
Vwd2b 69
Vwd2m 69
Vwd2 69

Characteristics:

Orphanet epidemiological data:

53
von willebrand disease type 2a:
Inheritance: Autosomal dominant,Autosomal recessive
von willebrand disease type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages
von willebrand disease type 2m:
Inheritance: Autosomal dominant
von willebrand disease type 2b:
Inheritance: Autosomal dominant
von willebrand disease type 2n:
Inheritance: Autosomal recessive

HPO:

63
von willebrand disease, types 2a, 2b, 2m, and 2n:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 613554
Disease Ontology11 DOID:0060574
ICD10 via Orphanet30 D68.0
UMLS via Orphanet68 C1282968, C1264040, C1282974 C1282971, C1282975, more
MESH via Orphanet39 D056728
MeSH38 D056728

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

About this section
OMIM:51 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 2m, is related to type 2m von willebrand disease and type 2n von willebrand disease, and has symptoms including menorrhagia, epistaxis and bruising susceptibility. An important gene associated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n is VWF (Von Willebrand Factor). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:69 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

About this section

Diseases related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1type 2m von willebrand disease11.6
2type 2n von willebrand disease11.6
3type 2b von willebrand disease11.5
4von willebrand disease, platelet-type11.2
5type 2a von willebrand disease11.2
6von willebrand disease, type 111.1
7thrombocytopenia10.2
8hemophilia a10.0
9hemophilia9.8

Graphical network of 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

About this section

Symptoms by clinical synopsis from OMIM:

613554

Clinical features from OMIM:

613554

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

 63
id Description HPO Frequency HPO Source Accession
1 menorrhagia63 HP:0000132
2 epistaxis63 HP:0000421
3 bruising susceptibility63 HP:0000978

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

About this section

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

(show top 50)    (show all 64)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 451079902-63-954454
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
2
Repaglinideapproved, investigationalPhase 451135062-02-165981
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
3
Insulin AspartapprovedPhase 4442116094-23-616132418
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 aspart protamine recombinant
Insulin aspart recombinant
Insulin, Asp(B28)
LS-185932
NovoLog
NovoMix 30
NovoRapid
NovoRapid 30 Mix
Novolog mix 70/30
UNII-D933668QVX
4
MetforminapprovedPhase 4, Phase 31746657-24-914219, 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
DMGG
Diabetosan
Diabex
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
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
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
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
5Lipid Regulating AgentsPhase 42702
6Anticholesteremic AgentsPhase 41983
7Calcium, DietaryPhase 4, Phase 25525
8Atorvastatin CalciumPhase 4743134523-03-8
9AntimetabolitesPhase 411774
10Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 41956
11Hypolipidemic AgentsPhase 42721
12Biphasic InsulinsPhase 4155
13Insulin aspart, insulin aspart protamine drug combination 30:70Phase 4106
14ProtaminesPhase 4179
15Insulin, Globin ZincPhase 44523
16Factor VIIIPhase 4, Phase 2, Phase 1304
17Insulin, IsophanePhase 4252
18insulinPhase 44524
19Deamino Arginine VasopressinPhase 4, Phase 272
20CoagulantsPhase 4, Phase 3, Phase 2, Phase 11428
21HemostaticsPhase 4, Phase 3, Phase 21359
22Arginine VasopressinPhase 4, Phase 2290
23Natriuretic AgentsPhase 4, Phase 21645
24Hypoglycemic AgentsPhase 4, Phase 35733
25VasopressinsPhase 4, Phase 2286
26arginineNutraceuticalPhase 4, Phase 2408
27
LiraglutideapprovedPhase 3315204656-20-2
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]
Liraglutide recombinant
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
UNII-839I73S42A
Victoza
nn 2211
nn2211
victoza
28
GlimepirideapprovedPhase 323093479-97-13476
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 (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
29
Pioglitazoneapproved, investigationalPhase 3435111025-46-84829
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
30
Tranexamic AcidapprovedPhase 32571197-18-85526
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
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 (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
31Sitagliptin PhosphatePhase 3416
32Anti-Arrhythmia AgentsPhase 32969
33Immunosuppressive AgentsPhase 312770
34IncretinsPhase 31537
35Dipeptidyl-Peptidase IV InhibitorsPhase 3846
36
protease inhibitorsPhase 35320
Synonyms:
 
protease inhibitors
37Hormone AntagonistsPhase 3, Phase 212778
38HIV Protease InhibitorsPhase 35319
39Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 212767
40HormonesPhase 3, Phase 213979
41Antifibrinolytic AgentsPhase 3459
42
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)
43
TamoxifenapprovedPhase 238010540-29-12733526
Synonyms:
(Z)-1-(p-Dimethylaminoethoxyphenyl)-1,2-diphenyl-1-butene
(Z)-2-(4-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(4-(1,2-diphenylbut-1-enyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(Para-(1,2-diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine
(Z)-2-(para-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine (IUPAC)
(Z)-2-[4-(1,2)-DIPHENYL-1-BUTENYL)-PHENOXY]-N,N-DIMETHYLETHANAMINE
(Z)-2-[p-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
,citrate
1-P-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-Para-beta-dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-.beta.-Dimethylamino-ethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-para-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
10540-29-1
1ya4
2-[4-[(Z)-1,2-diphenylbut-1-enyl]phenoxy]-N,N-dimethylethanamine
2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}-N,N-dimethylethanamine
54965-24-1 (citrate)
AC1MBZ3R
Apo-Tamox
Apo-tamox
BIDD:ER0008
BIDD:GT0009
BIDD:PXR0003
BPBio1_000278
BRD-K93754473-001-02-9
BRD-K93754473-048-05-3
BSPBio_000252
BSPBio_001150
BSPBio_001982
C07108
C26H29NO
CCRIS 3275
CHEBI:41774
CHEMBL83
CID2733526
Citofen
Crisafeno
D08559
DB00675
Diemon
EINECS 234-118-0
Gen-Tamoxifen
Gen-tamoxifen
HMS1362J11
HMS1792J11
HMS1990J11
HMS2090N08
HSDB 6782
ICI 47699
ICI-46,474
ICI-47699
IDI1_000258
IDI1_002170
Istubol
Kessar
L024126
LS-393
Lopac0_001203
MLS001332535
MLS001332536
MolPort-003-850-384
 
NCGC00024928-01
NCGC00024928-03
NCGC00024928-04
NCGC00024928-05
NCGC00024928-07
NCGC00024928-08
NCGC00024928-09
NCGC00024928-12
NSC727681
Noltam
Nolvadex
Nolvadex-D
Nourytam
Novaldex
Novo-Tamoxifen
Oncomox
PMS-Tamoxifen
Pms-Tamoxifen
Prestwick2_000146
Prestwick3_000146
QTL1_000079
Retaxim
SMR000059172
ST50511785
Spectrum5_001417
Spectrum5_002043
T5648_SIGMA
TAMOXIFEN (TAMOXIFEN CITRATE (54965-24-1))
TRANS FORM OF TAMOXIFEN
Tamizam
Tamofen
Tamone
Tamoplex (TN)
Tamoxasta
Tamoxen
Tamoxifen
Tamoxifen (INN)
Tamoxifen (TN)
Tamoxifen (Z)
Tamoxifen Citrate
Tamoxifen [INN:BAN]
Tamoxifen and its salts
Tamoxifene
Tamoxifene [INN-French]
Tamoxifeno
Tamoxifeno [INN-Spanish]
Tamoxifenum
Tamoxifenum [INN-Latin]
Tamoxifène
Tocris-0999
Tomaxithen
Trans-Tamoxifen
UNII-094ZI81Y45
UPCMLD-DP027
Valodex
Zemide
cMAP_000044
nchembio.140-comp7
nchembio.76-comp1
nchembio732-comp3
tamoxifen
trans-2-[4-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
trans-Tamoxifen
44
AfimoxifeneinvestigationalPhase 2568392-35-8
Synonyms:
4-Hydroxytamoxifen
 
4-OHT
4-monohydroxytamoxifen
45Estrogen AntagonistsPhase 21315
46Estrogen Receptor ModulatorsPhase 2630
47EstrogensPhase 22470
48Selective Estrogen Receptor ModulatorsPhase 2586
49AnticoagulantsPhase 22516
50Bone Density Conservation AgentsPhase 23266

Interventional clinical trials:

(show all 23)
idNameStatusNCT IDPhase
1Oxidative Stress Lowering Effect of Simvastatin and Atorvastatin.Unknown statusNCT00404599Phase 4
2Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement SurgeryCompletedNCT01994330Phase 4
3Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and DietCompletedNCT00118937Phase 4
4Efficacy and Safety of DLBS1033 in Subjects With Type 2 Diabetes MellitusCompletedNCT01865474Phase 4
5Effect of Repaglinide Versus Metformin Treatment in Non-Obese Patients With Type-2-DiabetesCompletedNCT00118963Phase 4
6Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand PatientsRecruitingNCT00555555Phase 4
7The Effect of Liraglutide Compared to Sitagliptin, Both in Combination With Metformin on Glycaemic Control in Subjects With Type 2 Diabetes MellitusCompletedNCT00700817Phase 3
8Efficacy of Pioglitazone/Metformin Combination Therapy in Subjects With Type 2 Diabetes Mellitus and Dyslipidemia.CompletedNCT00770653Phase 3
9Minimize Menorrhagia in Women With Type 1 Von Willebrand DiseaseNot yet recruitingNCT02606045Phase 3
10ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function DisordersCompletedNCT00632242Phase 2
11IL-11 in Women With Von Willebrand Disease and Refractory MenorrhagiaCompletedNCT00524342Phase 2
12A Study to Compare the Pharmacokinetics and Safety of Optivate® and Haemate P® in Patients With Von Willebrand Disease.CompletedNCT02250508Phase 2
13Phase II Study of IL-11 (Neumega) in Von Willebrand DiseaseCompletedNCT00151125Phase 2
14Tamoxifen Citrate or Afimoxifene in Treating Patients With Estrogen Receptor Positive Breast CancerNot yet recruitingNCT02993159Phase 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
18Phase 1 Dose Escalation, Single Dose Study to Assess Safety and Pharmacokinetics of BAX930 in Hereditary Thrombotic Thrombocytopenic Purpura (TTP)CompletedNCT02216084Phase 1
19A 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
20The Effect of Folic Acid Administration in the Progression of MicroalbuminuriaCompletedNCT00737126
21SIT LESS 3: The Effect of Low Intensity Physical Activity on Insulin Sensitivity, Mood and Cognitive PerformanceCompletedNCT02394249
22Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)RecruitingNCT01257269
23International Immune Tolerance StudyTerminatedNCT00212472

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


Cochrane evidence based reviews: von willebrand disease, type 2

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 2m26
2 Von Willebrand Disease, Type 2b26
3 Von Willebrand Disease, Type 2a26
4 Von Willebrand Disease Type 2n26
5 Von Willebrand Disease Type 226

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

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MalaCards organs/tissues related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

35
Bone

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:

69 (show all 36)
id Symbol AA change Variation ID SNP ID
1VWFp.Asn528SerVAR_005783rs61754010
2VWFp.Gly550ArgVAR_005784rs61754011
3VWFp.Thr791MetVAR_005786rs61748477
4VWFp.Arg816TrpVAR_005787rs121964894
5VWFp.Arg854GlnVAR_005789rs41276738
6VWFp.Pro1266LeuVAR_005791rs61749370
7VWFp.His1268AspVAR_005792rs61749371
8VWFp.Cys1272ArgVAR_005793rs61749372
9VWFp.Arg1306TrpVAR_005794rs61749384
10VWFp.Arg1308CysVAR_005795rs61749387
11VWFp.Trp1313CysVAR_005796rs61749392
12VWFp.Val1314LeuVAR_005797rs61749393
13VWFp.Val1316MetVAR_005798rs61749397
14VWFp.Val1318LeuVAR_005799
15VWFp.Gly1324SerVAR_005800rs61749398
16VWFp.Arg1341GlnVAR_005801rs61749403
17VWFp.Arg1374CysVAR_005802rs61750071
18VWFp.Arg1374HisVAR_005803rs61750072
19VWFp.Leu1460ValVAR_005806rs61750088
20VWFp.Ala1461ValVAR_005807rs61750089
21VWFp.Phe1514CysVAR_005808rs61750101
22VWFp.Leu1540ProVAR_005809rs267607342
23VWFp.Arg1597GlyVAR_005811rs61750117
24VWFp.Arg1597GlnVAR_005812rs61750577
25VWFp.Arg1597TrpVAR_005813rs61750117
26VWFp.Val1607AspVAR_005814rs61750579
27VWFp.Gly1609ArgVAR_005815rs61750580
28VWFp.Ser1613ProVAR_005816rs61750581
29VWFp.Ile1628ThrVAR_005817rs61750584
30VWFp.Glu1638LysVAR_005818rs61750588
31VWFp.Pro1648SerVAR_005819rs61750590
32VWFp.Val1665GluVAR_005820rs61750596
33VWFp.Cys2773ArgVAR_005822rs61751310
34VWFp.Cys788TyrVAR_009141rs61748476
35VWFp.Cys1060ArgVAR_028446rs61748497
36VWFp.Cys1272PheVAR_067340rs63524161

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

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1VWFNM_000552.4(VWF): c.4883T> C (p.Ile1628Thr)SNVPathogenicrs61750584GRCh37Chr 12, 6127701: 6127701
2VWFNM_000552.4(VWF): c.4789C> T (p.Arg1597Trp)SNVPathogenicrs61750117GRCh37Chr 12, 6127795: 6127795
3VWFNM_000552.4(VWF): c.4820T> A (p.Val1607Asp)SNVPathogenicrs61750579GRCh37Chr 12, 6127764: 6127764
4VWFNM_000552.4(VWF): c.3939G> C (p.Trp1313Cys)SNVPathogenicrs61749392GRCh37Chr 12, 6128645: 6128645
5VWFNM_000552.4(VWF): c.3916C> T (p.Arg1306Trp)SNVPathogenicrs61749384GRCh37Chr 12, 6128668: 6128668
6VWFNM_000552.4(VWF): c.3922C> T (p.Arg1308Cys)SNVPathogenicrs61749387GRCh37Chr 12, 6128662: 6128662
7VWFNM_000552.4(VWF): c.3946G> A (p.Val1316Met)SNVPathogenicrs61749397GRCh37Chr 12, 6128638: 6128638
8VWFNM_000552.4(VWF): c.4022G> A (p.Arg1341Gln)SNVPathogenicrs61749403GRCh37Chr 12, 6128562: 6128562
9VWFNM_000552.4(VWF): c.4837T> C (p.Ser1613Pro)SNVPathogenicrs61750581GRCh37Chr 12, 6127747: 6127747
10VWFNM_000552.4(VWF): c.2372C> T (p.Thr791Met)SNVPathogenicrs61748477GRCh37Chr 12, 6153527: 6153527
11VWFNM_000552.4(VWF): c.2446C> T (p.Arg816Trp)SNVPathogenicrs121964894GRCh37Chr 12, 6145654: 6145654
12VWFNM_000552.4(VWF): c.2561G> A (p.Arg854Gln)SNVPathogenicrs41276738GRCh37Chr 12, 6143978: 6143978
13VWFNM_000552.4(VWF): c.3970G> A (p.Gly1324Ser)SNVPathogenicrs61749398GRCh37Chr 12, 6128614: 6128614
14VWFNM_000552.4(VWF): c.3814T> C (p.Cys1272Arg)SNVPathogenicrs61749372GRCh37Chr 12, 6128770: 6128770
15VWFNM_000552.4(VWF): c.3940G> C (p.Val1314Leu)SNVPathogenicrs61749393GRCh37Chr 12, 6128644: 6128644
16VWFNM_000552.4(VWF): c.4541T> G (p.Phe1514Cys)SNVPathogenicrs61750101GRCh37Chr 12, 6128043: 6128043
17VWFNM_000552.4(VWF): c.1648G> A (p.Gly550Arg)SNVPathogenicrs61754011GRCh37Chr 12, 6167096: 6167096
18VWFNM_000552.4(VWF): c.8317T> C (p.Cys2773Arg)SNVPathogenicrs61751310GRCh37Chr 12, 6058306: 6058306
19VWFVWF, 6-BP INS, NT1212insertionPathogenicChr na, -1: -1
20VWFNM_000552.4(VWF): c.3437A> G (p.Tyr1146Cys)SNVPathogenicrs267607326GRCh37Chr 12, 6132007: 6132007
21VWFVWF, TRP1745CYSundetermined variantPathogenicChr na, -1: -1
22VWFNM_000552.4(VWF): c.5347T> G (p.Ser1783Ala)SNVPathogenicrs267607353GRCh37Chr 12, 6125363: 6125363
23VWFNM_000552.4(VWF): c.3854C> T (p.Ser1285Phe)SNVPathogenicrs61749380GRCh37Chr 12, 6128730: 6128730
24VWFNM_000552.4(VWF): c.2384A> G (p.Tyr795Cys)SNVPathogenicrs61748478GRCh37Chr 12, 6153515: 6153515
25VWFNM_000552.4(VWF): c.2411G> T (p.Cys804Phe)SNVPathogenicrs62643630GRCh37Chr 12, 6153488: 6153488
26VWFNM_000552.4(VWF): c.3797C> T (p.Pro1266Leu)SNVLikely pathogenic, Pathogenicrs61749370GRCh37Chr 12, 6128787: 6128787
27VWFNM_000552.4(VWF): c.1071C> A (p.Tyr357Ter)SNVPathogenicrs61754002GRCh37Chr 12, 6181535: 6181535
28VWFNM_000552.4(VWF): c.3178T> C (p.Cys1060Arg)SNVPathogenicrs61748497GRCh37Chr 12, 6134790: 6134790
29VWFNM_000552.4(VWF): c.1583A> G (p.Asn528Ser)SNVPathogenicrs61754010GRCh37Chr 12, 6167161: 6167161

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet