MCID: VNW005
MIFTS: 48

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:
50OMIM, 12diseasecard, 37MeSH, 66UMLS, 11Disease Ontology, 23GeneTests, 68UniProtKB/Swiss-Prot, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Von Willebrand Disease, Type 1:

Name: Von Willebrand Disease, Type 1 50 12 37 66
Von Willebrand Disease Type I 23 68
Von Willebrand Disease 1 68 25
Von Willebrand Factor Deficiency Type 1 68
 
Type 1 Von Willebrand Disease 23
Von Willebrand Disease Type 1 52
Von Willebrand's Disease 1 11
Vwd1 68

Characteristics:

Orphanet epidemiological data:

52
von willebrand disease type 1:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

62
von willebrand disease, type 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance


Classifications:



External Ids:

OMIM50 193400
Disease Ontology11 DOID:0060573
Orphanet52 ORPHA166078
ICD10 via Orphanet29 D68.0
MESH via Orphanet38 D056725
UMLS via Orphanet67 C1264039
MedGen35 C1264039
MeSH37 D056725

Summaries for Von Willebrand Disease, Type 1

About this section
OMIM:50 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 and tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, and has symptoms including menorrhagia, epistaxis and gastrointestinal angiodysplasia. An important gene associated with Von Willebrand Disease, Type 1 is VWF (Von Willebrand Factor), and among its related pathways are Platelet activation and Platelet Adhesion to exposed collagen. Affiliated tissues include endothelial and whole blood, and related mouse phenotypes are immune system and hematopoietic system.

UniProtKB/Swiss-Prot:68 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

Diseases related to Von Willebrand Disease, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1von willebrand disease10.5
2tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.4F8, VWF
3tyrosine hydroxylase-deficient dopa-responsive dystonia10.3F8, VWF
4secondary central precocious puberty10.3F8, VWF
5familial spastic paralysis10.3F8, VWF
6type 2n von willebrand disease10.3F8, VWF
7allain-babin-demarquez syndrome10.3F8, VWF
8malignant type ab thymoma10.3F8, VWF
9leydig cell tumor10.3F8, VWF
10von willebrand disease, types 2a, 2b, 2m, and 2n10.2
11central epithelioid sarcoma10.2F2, VWF
12gray platelet syndrome10.2GP6, VWF
13psychologic dyspareunia10.1F2, VWF
14diabetic autonomic neuropathy10.1F2, F8
15polyhydramnios10.1F2, F8
16west nile fever10.1F2, F8
17psychosexual disorder10.1F2, VWF
18ischemic heart disease10.1F2, VWF
19chronic diarrhea due to guanylate cyclase 2c overactivity10.0F3, VWF
20renal fibrosis10.0F2, VWF
21acquired fructose intolerance10.0F3, F8
22biermer's disease10.0F3, F8
23colon carcinoma in situ9.9F3, VWF
24ehlers-danlos syndrome, classic type9.9
25ehlers-danlos syndrome9.9
26idiopathic neutropenia9.9F3, F8
27fiedler's myocarditis9.9F3, VWF
28familial glomangioma9.9F2, F3
29jumping frenchmen of maine9.9F2, VWF
30ariboflavinosis9.9F2, F3
31myiasis9.9F2, F3
32cavernous hemangioma of face9.9F2, F3
33ovarian gonadoblastoma9.9F2, F3
34cerebral angioma9.9F2, F3
35classic congenital lipoid adrenal hyperplasia due to star deficency9.9F2, F3
36brill-zinsser disease9.9F2, F3
37epididymo-orchitis9.9F2, F3
38chorea gravidarum9.9F2, F3
39central nervous system germinoma9.9F2, F3
40congenital nystagmus9.8F2, F3
41tollner horst manzke syndrome9.8F3, F8
42dmd-related dilated cardiomyopathy9.8F2, F3
43lateral cystocele9.8F2, F3
44peroneal neuropathy9.8F2, F3
45transient cerebral ischemia9.8F2, F3
46splenic infarction9.8F2, F3
47lymphatic system cancer9.8F2, F3
48cercarial dermatitis9.8F2, F3
49angular blepharoconjunctivitis9.8F2, F3
50lingual-facial-buccal dyskinesia9.8F2, F3

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

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 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RepaglinidePhase 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
2
Insulin-aspartPhase 4437116094-23-616132418
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
3FACTOR VIIIPhase 4, Phase 3, Phase 1282
4
MetforminPhase 4, Phase 31701657-24-914219, 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
5insulinPhase 44401
6
protease inhibitorsPhase 35157
Synonyms:
 
protease inhibitors
7
LiraglutidePhase 3293204656-20-2
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
8
Tranexamic AcidPhase 32411197-18-85526
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
9
OprelvekinPhase 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)
10arginineNutraceuticalPhase 2, Phase 1393
11
Bevacizumab1938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
12
Zinc21547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
13FolateNutraceutical4143
14
Folic AcidNutraceutical414359-30-36037
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 (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

Interventional clinical trials:

(show all 26)
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 and Safety of DLBS1033 in Subjects With Type 2 Diabetes MellitusCompletedNCT01865474Phase 4
5Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand PatientsRecruitingNCT00555555Phase 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
19Vascular Assessment in Adult Survivors of Childhood CancerCompletedNCT02010190
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
23Type 3 Von Willebrand International Registries Inhibitor Prospective StudyActive, not recruitingNCT02460458
24Study of DDAVP Combined With TXA on the Blood Loss and Transfusion Need During and After Scoliosis Correction SurgeryActive, not recruitingNCT02084342
25International Immune Tolerance StudyTerminatedNCT00212472
26Changes in Bleeding and Clotting During the Menstrual CycleWithdrawnNCT00480545

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Cochrane evidence based reviews: von willebrand disease, type 1

Genetic Tests for Von Willebrand Disease, Type 1

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Genetic tests related to Von Willebrand Disease, Type 1:

id Genetic test Affiliating Genes
1 Von Willebrand Disease Type 125
2 Type 1 Von Willebrand Disease23

Anatomical Context for Von Willebrand Disease, Type 1

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

34
Endothelial, Whole blood

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

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.8F2, F3, F8, GP6, VWF
2MP:00053977.5F2, F3, F8, GP6, VWF
3MP:00053767.5F2, F3, F8, GP6, VWF

Publications for Von Willebrand Disease, Type 1

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Articles related to Von Willebrand Disease, Type 1:

idTitleAuthorsYear
1
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. (27292226)
2016
2
Managing patients with von Willebrand disease type 1, 2 and 3 with desmopressin and von Willebrand factor-factor VIII concentrate in surgical settings. (19506363)
2009
3
Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. (19506356)
2009
4
Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. (19506353)
2009
5
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. (19372260)
2009
6
PFA-100 monitoring of von Willebrand factor (VWF) responses to desmopressin (DDAVP) and factor VIII/VWF concentrate substitution in von Willebrand disease type 1 and 2. (18766263)
2008
7
Intravenous DDAVP and factor VIII-von Willebrand factor concentrate for the treatment and prophylaxis of bleedings in patients With von Willebrand disease type 1, 2 and 3. (17164493)
2007
8
Guidelines for the evaluation of intravenous desmopressin and von Willebrand factor/factor VIII concentrate in the treatment and prophylaxis of bleedings in von Willebrand disease types 1, 2, and 3. (16977574)
2006
9
Platelet membrane glycoprotein polymorphisms do not influence the clinical expressivity of von Willebrand disease type 1. (14652648)
2003
10
Von Willebrand disease type 1: a diagnosis in search of a disease. (12411289)
2003

Variations for Von Willebrand Disease, Type 1

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

68
id Symbol AA change Variation ID SNP ID
1VWFp.Arg273TrpVAR_010242rs61753997
2VWFp.Cys1149ArgVAR_064925rs61748511

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

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

Expression for genes affiliated with Von Willebrand Disease, Type 1

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

Pathways for genes affiliated with Von Willebrand Disease, Type 1

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

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Cellular components related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.9F8, VWF
2extracellular matrixGO:00310128.6F2, F3, VWF

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1platelet degranulationGO:00025769.8F8, VWF
2response to woundingGO:00096119.7F2, VWF
3acute-phase responseGO:00069539.7F2, F8
4blood coagulation, intrinsic pathwayGO:00075979.4F2, F8, VWF
5leukocyte migrationGO:00509009.0F2, GP6
6platelet activationGO:00301688.5F2, F8, GP6, VWF
7blood coagulationGO:00075967.5F2, F3, F8, GP6, VWF

Molecular functions related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.4GP6, VWF
2protease bindingGO:00020209.2F3, VWF
3serine-type endopeptidase activityGO:00042528.2F2, F3, F8

Sources for Von Willebrand Disease, Type 1

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