Details of Disease

General Information of Disease (ID: DISLD1FU)

• Disease Name: Bernard-Soulier syndrome
• Synonyms: glycoprotein Ib, Platelet, deficiency of; Bernard-Soulier syndrome, type C; Bernard-Soulier syndrome, type B; Platelet glycoprotein 1b, deficiency of; macrothrombocytopenia, familial Bernard-Soulier type; Bernard-Soulier syndrome, type A1; Von Willebrand Factor receptor deficiency; deficiency of platelet glycoprotein 1b; giant platelet disease; bleeding disorder, Platelet-type, 1; BSS; Platelet glycoprotein Ib deficiency; Bernard-Soulier syndrome; Hemorrhagiparous thrombocytic dystrophy; thrombopathy, Bernard-Soulier; giant platelet syndrome; Bernard Soulier syndrome; giant platelet disorder, isolated; Bernard-Soulier syndrome, type A1 (recessive); hemorrhagic dystrophic thrombocytopenia; Bernard - Soulier thrombopathy
• Definition: Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISIUNXT: Inherited bleeding disorder, platelet-type
  DISLD1FU: Bernard-Soulier syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009276
  MESH ID: D001606
  UMLS CUI: C0005129
  OMIM ID: 231200
  MedGen ID: 2212
  Orphanet ID: 274
  SNOMED CT ID: 234478007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F11	TTDM4ZU	moderate	Biomarker	[1]
GP1BA	TTVB0Q9	Definitive	Autosomal recessive	[2]
GP1BA	TTVB0Q9	Definitive	Genetic Variation	[3]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LGALS8	OT71LJ8T	Limited	Biomarker	[4]
C4BPA	OTHNH6Y8	Strong	Biomarker	[5]
CARD14	OTADQHOV	Strong	Biomarker	[5]
ITGA2B	OT4Y17PY	Strong	Altered Expression	[6]
MYH9	OT94Z706	Strong	Genetic Variation	[7]
PRDX2	OTLWCY9T	Strong	Biomarker	[5]
GP1BA	OT62PSOB	Definitive	Autosomal recessive	[2]
GP1BB	OTD7XNLL	Definitive	Autosomal recessive	[2]
GP9	OTA19OKO	Definitive	Autosomal recessive	[2]
SEPTIN5	OT6JTJBO	Definitive	Biomarker	[8]

References

• [1] Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology?.Platelets. 2005 Mar;16(2):85-9. doi: 10.1080/09537100400010345.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [3] A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene.Acta Haematol. 2020;143(1):60-64. doi: 10.1159/000500797. Epub 2019 Jul 12.
• [4] Human platelets express and are activated by galectin-8.Biochem J. 2010 Dec 15;432(3):535-47. doi: 10.1042/BJ20100538.
• [5] Fibrin polymerization is crucial for thrombin generation in platelet-rich plasma in a VWF-GPIb-dependent process, defective in Bernard-Soulier syndrome.J Thromb Haemost. 2004 Jan;2(1):170-6. doi: 10.1111/j.1538-7836.2004.00558.x.
• [6] A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype.Hamostaseologie. 2009 May;29(2):161-7.
• [7] Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.Hum Genet. 2010 Sep;128(3):345-50. doi: 10.1007/s00439-010-0861-0. Epub 2010 Jul 16.
• [8] Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.Thromb Haemost. 2011 Sep;106(3):475-83. doi: 10.1160/TH11-05-0305. Epub 2011 Jul 28.