ZFIN Human Disease: Bernard-Soulier syndrome

OBO ID: DOID:2217

Term Name:	Bernard-Soulier syndrome		Search Ontology:
Synonyms:	Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier
Definition:	A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. (4)
References:	MESH:D001606 NCI:C84595 OMIM:231200 ORDO:274 SNOMEDCT_US_2023_03_01:54569005 UMLS_CUI:C0005129
Ontology:	Human Disease ( DOID:2217 )

Relationships

is a type of:	autosomal recessive disease blood coagulation disease autosomal recessive disease blood coagulation disease Show first 5 Terms
has subtype:	Bernard-Soulier syndrome type A2 Bernard-Soulier syndrome type A2 Show first 5 Terms

OTHER Bernard-Soulier syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GP1BA	gp1ba	Bernard-Soulier syndrome, type A1 (recessive)	231200
GP1BB	gp1bb	Giant platelet disorder, isolated	231200
		Bernard-Soulier syndrome, type B	231200
GP9	gp9	Bernard-Soulier syndrome, type C	231200

ZEBRAFISH MODELS

Fish	Conditions	Citations
gp1ba^{sa9915/sa9915}	physical alteration: caudal artery	Dhinoja et al., 2022
gp1ba^sa9915/+	physical alteration: caudal artery	Dhinoja et al., 2022
gp9^sm17/sm17; la2Tg	standard conditions	Lin et al., 2021

PHENOTYPE No data available

CITATIONS (2)