MCID: VNW003
MIFTS: 31

Von Willibrand Disease, Type 3 malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Von Willibrand Disease, Type 3

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

Aliases & Classifications for Von Willibrand Disease, Type 3

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Sources:
47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

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


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 62
hereditary von willebrand disease 49
von willebrand disease, type 3 62
von willebrand disease type 3 49


External Ids:

ICD10 via Orphanet26 D68.0
SNOMED-CT via Orphanet59 128108002, 128105004
UMLS via Orphanet63 C1264041, C0042974
MESH via Orphanet36 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

Symptoms for Von Willibrand Disease, Type 3

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

277480

Clinical features from OMIM:

277480,193400,314560,613554

Symptoms:

49
  • 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

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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Variations for Von Willibrand Disease, Type 3

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Von Willibrand Disease, Type 3:

64
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

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Sources:
2BioGPS, 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

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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet