OMIA group 1056

Von Willebrand disease, generic

The chain reaches the human disease Bernard-Soulier syndrome, which Mondo defines as: “Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.” It reaches 4 more human diseases, listed below.

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

Animal disease

Reached

OMIA records it in 6 species entries marked as a defect.
Human disease

Reached

5 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

4 Open Targets associations, with a best score of 0.80.
Drugs

Reached

4 ChEMBL drugs, 3 approved. None has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

von Willebrand disease 3

65.4 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.80	27.9 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	6 naturally occurring species entries marked as a defect	10.0 of 10

von Willebrand disease 1

65.1 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.79	27.6 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	6 naturally occurring species entries marked as a defect	10.0 of 10

platelet-type von Willebrand disease

58.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.61	21.4 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	6 naturally occurring species entries marked as a defect	10.0 of 10

Bernard-Soulier syndrome

39.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.07	2.4 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	6 naturally occurring species entries marked as a defect	10.0 of 10

Von Willebrand disease, X-linked form

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	6 naturally occurring species entries marked as a defect	10.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
dog	Canis lupus familiaris	OMIA:001056-9615	Yes
domestic cat	Felis catus	OMIA:001056-9685	Yes
domestic cattle	Bos taurus	OMIA:001056-9913	Yes
horse	Equus caballus	OMIA:001056-9796	Yes
pig	Sus scrofa	OMIA:001056-9823	Yes
rabbit	Oryctolagus cuniculus	OMIA:001056-9986	Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species	Animal gene	Human gene	Ortholog
dog	No gene	OMIA records no gene for this species entry.
domestic cat	No gene	OMIA records no gene for this species entry.
domestic cattle	No gene	OMIA records no gene for this species entry.
horse	No gene	OMIA records no gene for this species entry.
pig	VWF von Willebrand factor NCBI Gene 399543	VWF Ensembl	one to one
rabbit	No gene	OMIA records no gene for this species entry.

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

OMIA's own Mondo link: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0009276	Bernard-Soulier syndrome Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.	OMIA's OMIM numbers
MONDO:0008332	platelet-type von Willebrand disease A bleeding disorder caused by a variation in the GP1BA gene that increases the affinity of platelet GPIbα for von Willebrand factor (vWF), characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. Diagnostic laboratory findings include enhanced ristocetin‑induced agglutination and features that mimic type 2B VWD despite a primary platelet defect. Functional studies in human platelets demonstrate abnormally increased vWF binding and hyperresponsiveness, consistent with enhanced GPIbα‑vWF interactions described in patient cells.	OMIA's OMIM numbers
MONDO:0008668	von Willebrand disease 1 Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).	OMIA's OMIM numbers
MONDO:0010191	von Willebrand disease 3 Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).	OMIA's OMIM numbers
MONDO:0010756	Von Willebrand disease, X-linked form	OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene	Human disease	Score	Evidence	Kinds of evidence
VWF	von Willebrand disease 3	0.80	385	Genetic association 0.90 Genetic literature 0.78 Animal model 0.49 Literature 0.28
VWF	von Willebrand disease 1	0.79	416	Genetic association 0.88 Genetic literature 0.78 Animal model 0.29 Literature 0.27
VWF	platelet-type von Willebrand disease	0.61	2,055	Genetic association 0.96 Literature 0.68 Animal model 0.55
VWF	Bernard-Soulier syndrome	0.07	79	Animal model 0.52 Literature 0.14

Drugs

Drugs act on VWF, but none has been tested for this disease.

Drug	Acts on	How	Latest stage	Tested for this disease
Caplacizumab	VWF	inhibitor	Approved	No
Vonicog Alfa	VWF	exogenous protein	Approved	No
Von Willebrand Factor Human	VWF	exogenous protein	Approved	No
Egaptivon Pegol	VWF	inhibitor	Phase 2	No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.