MCID: VNW003
MIFTS: 19

Von Willibrand Disease, Type 3 malady

Genetic diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Von Willibrand Disease, Type 3

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Sources:
46OMIM, 9diseasecard, 20GeneTests, 61UMLS, 48Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Von Willibrand Disease, Type 3:

Name: Von Willibrand Disease, Type 3 46 9
Von Willebrand Disease, Type 3 46 20 61
 
Von Willebrand Disease Type 3 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
von willebrand disease type 3:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM46 277480
Orphanet48 166096
MESH via Orphanet34 D056729
ICD10 via Orphanet26 D68.0
UMLS via Orphanet62 C1264041

Summaries for Von Willibrand Disease, Type 3

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OMIM:46 Von Willebrand disease is a bleeding disorder resulting from a defect in platelet aggregation due to defects in the von... (277480) more...

MalaCards based summary: Von Willibrand Disease, Type 3, also known as von willebrand disease, type 3, is related to von willebrand disease, type 1 and endotheliitis, and has symptoms including joint hemorrhage, autosomal recessive inheritance and menorrhagia. An important gene associated with Von Willibrand Disease, Type 3 is VWF (von Willebrand factor).

Related Diseases for Von Willibrand Disease, Type 3

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Diseases related to Von Willibrand Disease, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1von willebrand disease, type 110.3
2endotheliitis10.3

Symptoms for Von Willibrand Disease, Type 3

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Symptoms by clinical synopsis from OMIM:

277480

Clinical features from OMIM:

277480

HPO human phenotypes related to Von Willibrand Disease, Type 3:

(show all 11)
id Description Frequency HPO Source Accession
1 joint hemorrhage occasional (7.5%) HP:0005261
2 autosomal recessive inheritance HP:0000007
3 menorrhagia HP:0000132
4 epistaxis HP:0000421
5 bruising susceptibility HP:0000978
6 thrombocytopenia HP:0001873
7 persistent bleeding after trauma HP:0001934
8 prolonged bleeding time HP:0003010
9 reduced factor viii activity HP:0003125
10 impaired platelet aggregation HP:0003540
11 reduced von willebrand factor activity HP:0008330

Drugs & Therapeutics for Von Willibrand Disease, Type 3

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Drug clinical trials:

Search ClinicalTrials for Von Willibrand Disease, Type 3

Search NIH Clinical Center for Von Willibrand Disease, Type 3

Genetic Tests for Von Willibrand Disease, Type 3

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Genetic tests related to Von Willibrand Disease, Type 3:

id Genetic test Affiliating Genes
1 Type 3 Von Willebrand Disease20

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

63
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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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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Sources for Von Willibrand Disease, Type 3

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet