MCID: VNW005
MIFTS: 42

Von Willebrand Disease, Type 1 malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Von Willebrand Disease, Type 1

About this section
Sources:
49OMIM, 11diseasecard, 36MeSH, 65UMLS, 22GeneTests, 67UniProtKB/Swiss-Prot, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Von Willebrand Disease, Type 1:

Name: Von Willebrand Disease, Type 1 49 11 36 65
Von Willebrand Disease Type I 22 67
Von Willebrand Disease 1 67 24
Von Willebrand Factor Deficiency Type 1 67
 
Type 1 Von Willebrand Disease 22
Von Willebrand Disease Type 1 51
Vwd1 67

Characteristics:

Orphanet epidemiological data:

51
von willebrand disease type 1:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

61
von willebrand disease, type 1:
Onset and clinical course: incomplete penetrance
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 193400
Orphanet51 166078
ICD10 via Orphanet28 D68.0
MESH via Orphanet37 D056725
UMLS via Orphanet66 C1264039
MedGen34 C1264039
MeSH36 D056725
UMLS65 C1264039

Summaries for Von Willebrand Disease, Type 1

About this section
OMIM:49 Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous... (193400) more...

MalaCards based summary: Von Willebrand Disease, Type 1, also known as von willebrand disease type i, is related to von willebrand disease, types 2a, 2b, 2m, and 2n and obesity, and has symptoms including prolonged whole-blood clotting time, joint hemorrhage and impaired platelet aggregation. An important gene associated with Von Willebrand Disease, Type 1 is VWF (Von Willebrand Factor), and among its related pathways are Integrin alphaIIb beta3 signaling and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include endothelial, whole blood and skin, and related mouse phenotypes are hematopoietic system and immune system.

UniProtKB/Swiss-Prot:67 Von Willebrand disease 1: A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.

Related Diseases for Von Willebrand Disease, Type 1

About this section

Graphical network of the top 20 diseases related to Von Willebrand Disease, Type 1:



Diseases related to von willebrand disease, type 1

Symptoms for Von Willebrand Disease, Type 1

About this section

Symptoms by clinical synopsis from OMIM:

193400

Clinical features from OMIM:

193400

HPO human phenotypes related to Von Willebrand Disease, Type 1:

(show all 12)
id Description Frequency HPO Source Accession
1 prolonged whole-blood clotting time HP:0005542
2 joint hemorrhage HP:0005261
3 impaired platelet aggregation HP:0003540
4 reduced factor viii activity HP:0003125
5 prolonged bleeding time HP:0003010
6 gastrointestinal hemorrhage HP:0002239
7 aortic valve stenosis HP:0001650
8 mitral valve prolapse HP:0001634
9 bruising susceptibility HP:0000978
10 gastrointestinal angiodysplasia HP:0000471
11 epistaxis HP:0000421
12 menorrhagia HP:0000132

Drugs & Therapeutics for Von Willebrand Disease, Type 1

About this section

Drugs for Von Willebrand Disease, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Repaglinideapproved, investigationalPhase 450135062-02-165981
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 31645657-24-9, 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 4423116094-23-616132418
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
4Hypoglycemic AgentsPhase 4, Phase 34503
5Insulin, Globin ZincPhase 44278
6insulinPhase 44278
7Factor VIIIPhase 4, Phase 3, Phase 1272
8CoagulantsPhase 4, Phase 3, Phase 11042
9
LiraglutideapprovedPhase 3278204656-20-2
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
10
Tranexamic AcidapprovedPhase 32261197-18-85526
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
11Protease InhibitorsPhase 34558
12Sitagliptin PhosphatePhase 3399
13IncretinsPhase 31326
14HemostaticsPhase 3, Phase 2, Phase 11082
15Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
16Dipeptidyl-Peptidase IV InhibitorsPhase 3779
17HIV Protease InhibitorsPhase 34558
18Hormone AntagonistsPhase 310002
19HormonesPhase 311748
20Pharmaceutical SolutionsPhase 37004
21Antifibrinolytic AgentsPhase 3346
22
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)
23Deamino Arginine VasopressinPhase 2, Phase 168
24Natriuretic AgentsPhase 11403
25VasopressinsPhase 1260
26Arginine VasopressinPhase 1264
27arginineNutraceuticalPhase 1364
28
Bevacizumabapproved, investigational1875216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
29
Folic Acidapproved, nutraceutical292459-30-36037
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
30Micronutrients3901
31Trace Elements3900
32Vitamin B Complex2847
33Vitamins3857
34Mitogens1386
35Hematinics1121
36Contraceptives, Oral3734
37Endothelial Growth Factors328
38Vitamin B9Nutraceutical2924
39FolateNutraceutical2924
40Folinic AcidNutraceutical2604

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and DietCompletedNCT00118937Phase 4
2Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex in Surgical Subjects With Von Willebrand Disease (vWD)CompletedNCT00168090Phase 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
6Pharmacokinetics, Safety and Efficacy of Recombinant Von Willebrand Factor (rVWF) in the Treatment of Bleeding Episodes in Von Willebrand Disease (VWD)CompletedNCT01410227Phase 3
7Study of Biostate® in Children With Von Willebrand DiseaseCompletedNCT01213446Phase 3
8The Effect of Liraglutide Compared to Sitagliptin, Both in Combination With Metformin on Glycaemic Control in Subjects With Type 2 Diabetes MellitusCompletedNCT00700817Phase 3
9Minimize Menorrhagia in Women With Type 1 Von Willebrand DiseaseNot yet recruitingNCT02606045Phase 3
10IL-11 in Women With Von Willebrand Disease and Refractory MenorrhagiaCompletedNCT00524342Phase 2
11Phase II Study of IL-11 (Neumega) in Von Willebrand DiseaseCompletedNCT00151125Phase 2
12ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function DisordersCompletedNCT00632242Phase 2
13IL-11 in Adults With Von Willebrand Disease Undergoing SurgeryTerminatedNCT00524225Phase 2
14Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand DiseaseCompletedNCT00816660Phase 1
15Phase 1 Dose Escalation, Single Dose Study to Assess Safety and Pharmacokinetics of BAX930 in Hereditary Thrombotic Thrombocytopenic Purpura (TTP)CompletedNCT02216084Phase 1
16A 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
17Characterization of Laboratory Response to DDAVP in Adult Hemophilia A CarriersEnrolling by invitationNCT02506023Phase 1
18Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
19The Effect of Folic Acid Administration in the Progression of MicroalbuminuriaCompletedNCT00737126
20Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)RecruitingNCT01257269
21Vascular Assessment in Adult Survivors of Childhood CancerRecruitingNCT02010190
22Type 3 Von Willebrand International Registries Inhibitor Prospective StudyActive, not recruitingNCT02460458
23Study of DDAVP Combined With TXA on the Blood Loss and Transfusion Need During and After Scoliosis Correction SurgeryActive, not recruitingNCT02084342
24International Immune Tolerance StudyTerminatedNCT00212472
25Changes in Bleeding and Clotting During the Menstrual CycleWithdrawnNCT00480545

Search NIH Clinical Center for Von Willebrand Disease, Type 1


Cochrane evidence based reviews: von willebrand disease, type 1

Genetic Tests for Von Willebrand Disease, Type 1

About this section

Genetic tests related to Von Willebrand Disease, Type 1:

id Genetic test Affiliating Genes
1 Type 1 Von Willebrand Disease22

Anatomical Context for Von Willebrand Disease, Type 1

About this section

MalaCards organs/tissues related to Von Willebrand Disease, Type 1:

33
Endothelial, Whole blood, Skin, Testes, Monocytes

Animal Models for Von Willebrand Disease, Type 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Von Willebrand Disease, Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.0F2, F3, F8, VWF
2MP:00053877.7F2, F3, F8, VWF

Publications for Von Willebrand Disease, Type 1

About this section

Articles related to Von Willebrand Disease, Type 1:

idTitleAuthorsYear
1
Rapid progressive long esophageal stricture caused by gastroesophageal reflux disease after pylorus-preserving pancreatoduodenectomy. (27090811)
2016
2
Molecular mechanism of Aurora A kinase autophosphorylation and its allosteric activation by TPX2. (24867643)
2014
3
The miR-106b~25 cluster promotes bypass of doxorubicin-induced senescence and increase in motility and invasion by targeting the E-cadherin transcriptional activator EP300. (24270410)
2014
4
A study of glycogen storage disease with 99Tcm-MIBI gated myocardial perfusion imaging. (23616069)
2013
5
Variability of venom skin tests. (17620827)
2007
6
Increased myocardial N-myristoyltransferase activity in rotenone model of Parkinsonism. (15870904)
2005
7
No consensus on the definition, diagnosis and treatment of habitual abortion in the Netherlands]. (10347665)
1999
8
Detection, screening and community epidemiology of taeniid cestode zoonoses: cystic echinococcosis, alveolar echinococcosis and neurocysticercosis. (8701796)
1996
9
Monocytic leukemia in a greater bushbaby (Galago crassicaudatus argentatus). (6596461)
1984

Variations for Von Willebrand Disease, Type 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Von Willebrand Disease, Type 1:

67
id Symbol AA change Variation ID SNP ID
1VWFp.Arg273TrpVAR_010242rs61753997
2VWFp.Cys1149ArgVAR_064925

Clinvar genetic disease variations for Von Willebrand Disease, Type 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1VWFNM_000552.3(VWF): c.2561G> A (p.Arg854Gln)single nucleotide variantPathogenicrs41276738GRCh37Chr 12, 6143978: 6143978
2VWFNM_000552.3(VWF): c.4975C> T (p.Arg1659Ter)single nucleotide variantPathogenicrs61750595GRCh37Chr 12, 6127609: 6127609
3VWFNM_000552.3(VWF): c.5557C> T (p.Arg1853Ter)single nucleotide variantPathogenicrs61750612GRCh37Chr 12, 6122710: 6122710
4VWFNM_000552.3(VWF): c.3614G> A (p.Arg1205His)single nucleotide variantPathogenicrs121964895GRCh37Chr 12, 6131126: 6131126
5VWFNM_000552.3(VWF): c.3445T> C (p.Cys1149Arg)single nucleotide variantPathogenicrs61748511GRCh37Chr 12, 6131999: 6131999
6VWFVWF, 8.6-KB DEL, EX4-5deletionPathogenic
7VWFNM_000552.3(VWF): c.2279G> A (p.Arg760His)single nucleotide variantPathogenicrs61748467GRCh37Chr 12, 6155891: 6155891

Expression for genes affiliated with Von Willebrand Disease, Type 1

About this section
Search GEO for disease gene expression data for Von Willebrand Disease, Type 1.

Pathways for genes affiliated with Von Willebrand Disease, Type 1

About this section

GO Terms for genes affiliated with Von Willebrand Disease, Type 1

About this section

Biological processes related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:00096118.6F2, F3, VWF

Sources for Von Willebrand Disease, Type 1

About this section
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