Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
Jump to:
| Preferred Name | VON WILLEBRAND DISEASE, TYPE 2 | |
| Synonyms |
VON WILLEBRAND DISEASE, TYPE 2N VWD2M VWD2 VON WILLEBRAND DISEASE, TYPE 2A VWD2A VON WILLEBRAND DISEASE, TYPE 2B VWD2B VON WILLEBRAND DISEASE, TYPE II VWD, TYPE 2 VON WILLEBRAND DISEASE, TYPE 2M VWD2N |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/613554 |
|
| altLabel |
VON WILLEBRAND DISEASE, TYPE 2N VWD2M VWD2 VON WILLEBRAND DISEASE, TYPE 2A VWD2A VON WILLEBRAND DISEASE, TYPE 2B VWD2B VON WILLEBRAND DISEASE, TYPE II VWD, TYPE 2 VON WILLEBRAND DISEASE, TYPE 2M VWD2N
|
|
| cui |
C1282975 C1282968 C1282971 C1264040 C1282974
|
|
| Gene Locus |
12p13.3
|
|
| Gene Symbol |
VWF F8VWF
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU039473 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU027552 http://purl.bioontology.org/ontology/OMIM/MTHU039474 http://purl.bioontology.org/ontology/OMIM/MTHU027553 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
613554
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
VON WILLEBRAND DISEASE, TYPE 2
|
|
| Scope Statement |
Type 2N is characterized by decreased binding affinity for factor VIII [MISCELLANEOUS] Caused by mutation in the von Willebrand factor gene (VWF, 613160.0001) [MOLECULAR BASIS] There are several subtypes [MISCELLANEOUS] Type 2CB is characterized by defective binding affinity for collagen types I and III [MISCELLANEOUS] Type 2B is characterized by increased affinity for platelet glycoprotein 1B [MISCELLANEOUS] Type 2M is characterized by decreased platelet adhesion in the presence of high molecular weight monomers [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Most types show autosomal dominant inheritance [MISCELLANEOUS] Type 2A is characterized by deficiency of high molecular weight monomers [MISCELLANEOUS] Type 2N shows autosomal recessive inheritance [MISCELLANEOUS]
|
|
| tui |
T047 T019
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping