MCID: VNW003
MIFTS: 33

Von Willibrand Disease, Type 3 malady

Blood diseases category

Summaries for Von Willibrand Disease, Type 3

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46OMIM, 32MalaCards
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MalaCards: Von Willibrand Disease, Type 3, also known as von willebrand disease, is related to von willebrand's disease and von willebrand disease, types 2a, 2b, 2m, and 2n, and has symptoms including platelets function anomaly, clotting/hemostasis disorders and autosomal dominant inheritance. 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:46 277480,193400,314560,613554

Aliases & Classifications for Von Willibrand Disease, Type 3

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Sources:
48Orphanet, 60UMLS, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
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 46
von willebrand disease 48 60
von willebrand disease, type 3 60
von willebrand disease type 3 48
hereditary willebrand disease 48
willebrand disease type 3 48
willebrand disease 48


External Ids:

ICD10 via Orphanet26 D68.0
SNOMED-CT via Orphanet57 128108002, 128105004
UMLS via Orphanet61 C1264041, C0042974
MESH via Orphanet35 D056729, D014842

Related Diseases for Von Willibrand Disease, Type 3

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Von Willibrand Disease, Type 3:



Diseases related to von willibrand disease, type 3

Clinical Features for Von Willibrand Disease, Type 3

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46OMIM, 48Orphanet
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Clinical features from OMIM:

277480,193400,314560,613554

Clinical synopsis from OMIM:

277480

Symptoms:

48
  • platelets function anomaly
  • clotting/hemostasis disorders
  • autosomal dominant inheritance
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • varices/varicous veins/venous insufficiency

Drugs & Therapeutics for Von Willibrand Disease, Type 3

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS60/NDF-RT40:

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Genetic Tests for Von Willibrand Disease, Type 3

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Anatomical Context for Von Willibrand Disease, Type 3

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

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Publications for Von Willibrand Disease, Type 3

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Genetic Variations for Von Willibrand Disease, Type 3

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Von Willibrand Disease, Type 3:

62
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

Expression for genes affiliated with Von Willibrand Disease, Type 3

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Von Willibrand Disease, Type 3

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Pathways for genes affiliated with Von Willibrand Disease, Type 3

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Compounds for genes affiliated with Von Willibrand Disease, Type 3

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

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Products for genes affiliated with Von Willibrand Disease, Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Von Willibrand Disease, Type 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet