MCID: VNW003
MIFTS: 31

Von Willibrand Disease, Type 3 malady

Genetic diseases, Blood diseases, Rare diseases categories

Summaries for Von Willibrand Disease, Type 3

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Von Willibrand Disease, Type 3, also known as von willebrand disease, is related to type 2b von willebrand disease and type 2n von willebrand disease, and has symptoms including clinodactyly of fingers 1,2,3,4/overlapping fingers, autosomal dominant inheritance and mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly. An important gene associated with Von Willibrand Disease, Type 3 is VWF (von Willebrand factor). The drugs factor viii and antihemophilic factor, human have been mentioned in the context of this disorder.

Description from OMIM:48 277480,193400,314560,613554

Aliases & Classifications for Von Willibrand Disease, Type 3

About this section
Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

50
von willebrand disease type 3:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy
von willebrand disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

von willibrand disease, type 3 48
von willebrand disease 50 63
hereditary von willebrand disease 50
von willebrand disease, type 3 63
von willebrand disease type 3 50


External Ids:

ICD10 via Orphanet27 D68.0
SNOMED-CT via Orphanet60 128108002, 128105004
UMLS via Orphanet64 C1264041, C0042974
MESH via Orphanet37 D056729, D014842

Related Diseases for Von Willibrand Disease, Type 3

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of the top 20 diseases related to Von Willibrand Disease, Type 3:



Diseases related to von willibrand disease, type 3

Symptoms for Von Willibrand Disease, Type 3

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

277480

Clinical features from OMIM:

277480,193400,314560,613554

Symptoms:

50
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • autosomal dominant inheritance
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • varices/varicous veins/venous insufficiency
  • platelets function anomaly
  • clotting/hemostasis disorders

Drugs & Therapeutics for Von Willibrand Disease, Type 3

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Von Willibrand Disease, Type 3

Drug clinical trials:

Search ClinicalTrials for Von Willibrand Disease, Type 3

Search NIH Clinical Center for Von Willibrand Disease, Type 3

Search CenterWatch for Von Willibrand Disease, Type 3

Inferred drug relations via UMLS63/NDF-RT42:

Show with subtypes

Genetic Tests for Von Willibrand Disease, Type 3

About this section

Anatomical Context for Von Willibrand Disease, Type 3

About this section

Animal Models for Von Willibrand Disease, Type 3 or affiliated genes

About this section

Publications for Von Willibrand Disease, Type 3

About this section

Variations for Von Willibrand Disease, Type 3

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Von Willibrand Disease, Type 3:

65
id Symbol AA change Variation ID SNP ID
1VWFp.Trp377CysVAR_005782
2VWFp.Cys2739TyrVAR_005821
3VWFp.Pro2063SerVAR_009142rs61750615
4VWFp.Cys2362PheVAR_009143
5VWFp.Asn2546TyrVAR_009144
6VWFp.Arg273TrpVAR_010242rs61753997

Clinvar genetic disease variations for Von Willibrand Disease, Type 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1VWFNM_000552.3(VWF): c.4975C> T (p.Arg1659Ter)single nucleotide variantPathogenicrs61750595GRCh37Chr 12, 6127609: 6127609
2VWFNM_000552.3(VWF): c.5557C> T (p.Arg1853Ter)single nucleotide variantPathogenicrs61750612GRCh37Chr 12, 6122710: 6122710

Expression for genes affiliated with Von Willibrand Disease, Type 3

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Von Willibrand Disease, Type 3

Search GEO for disease gene expression data for Von Willibrand Disease, Type 3.

Pathways for genes affiliated with Von Willibrand Disease, Type 3

About this section

Compounds for genes affiliated with Von Willibrand Disease, Type 3

About this section

GO Terms for genes affiliated with Von Willibrand Disease, Type 3

About this section

Products for genes affiliated with Von Willibrand Disease, Type 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Von Willibrand Disease, Type 3

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet