MCID: VNW003
MIFTS: 27

Von Willibrand Disease, Type 3 malady

Blood category

Summaries for Von Willibrand Disease, Type 3

Sources:
47OMIM, 33MalaCards
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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 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:47 277480,193400,314560,613554

Aliases & Classifications for Von Willibrand Disease, Type 3

Sources:
49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
von willebrand disease 49 61
von willebrand disease, type 3 61
von willebrand disease type 3 49
hereditary willebrand disease 49
willebrand disease type 3 49
willebrand disease 49


External Ids:

ICD10 via Orphanet26 D68.0
SNOMED-CT via Orphanet58 128108002, 128105004
UMLS via Orphanet62 C1264041, C0042974
MESH via Orphanet36 D056729, D014842

Related Diseases for Von Willibrand Disease, Type 3

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

277480,193400,314560,613554

Clinical synopsis from OMIM:

277480

Symptoms:

49 (show all 6)
  • 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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Von Willibrand Disease, Type 3

Drug clinical trials:

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Search NIH Clinical Center for Von Willibrand Disease, Type 3

Search CenterWatch for Von Willibrand Disease, Type 3

Inferred drug relations via UMLS61/NDF-RT41:

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Genetic Tests for Von Willibrand Disease, Type 3

Anatomical Context for Von Willibrand Disease, Type 3

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

Sources:
28inGenious Targeting Laboratory
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Publications for Von Willibrand Disease, Type 3

Genetic Variations for Von Willibrand Disease, Type 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Von Willibrand Disease, Type 3:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Von Willibrand Disease, Type 3

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

Products for genes affiliated with Von Willibrand Disease, Type 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Von Willibrand Disease, Type 3

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet