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    Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test - Jan Jacques Michiels, Petr Smejkal, Miroslav Penka, Angelika Batorova, Tatiana Pricangova, Ulrich Budde, Inge Vangenechten, Alain Gadisseur, 2017
    3
    1. ClingenBaseline 24 Oct 2026
      Dominant vWD Type 1 Secretion Defect (High FVIII/vWF:Ag Ratio) Caused by S2179F Mutation in D4 Domain in 3 Families With vWD SD

      Case: Proband 1 (Family 1)

      DiseaseAssertion: VWD1

      FamilyInfo: 2 family members diagnosed with VWD1

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147, HP:0001892, HP:0030130

      (Reduced quantity of Von Willebrand factor, Abnormal bleeding, Impaired von Willibrand factor collagen binding activity)

      CaseHPOFreeText: normal to slightly prolonged Ivy BT, FVIII:C % = 28, VWF:Ag % = 12, VWF:RCo % = 14, VIII C/vWF:AG ratio = 2.3, vWF:Rco/vWF:AG ratio = 1.2

      CaseNOTHPOs: HP:0011871, HP:0030132

      (Impaired ristocetin-induced platelet aggregation, Absence of large von Willibrand factor multimers)

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NA

      PreviouslyPublished: PMID: 11992235

      Gene: VWF

      Variant: c.6536C>T (p.Ser2179Phe)

      HGVS: NM_000552.4(VWF):c.6536C>T (p.Ser2179Phe)

      ClinVarID: 100442; https://www.ncbi.nlm.nih.gov/clinvar/variation/100442/

      CAID:

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVarID:100442 PreviouslyPublished inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    2. ClingenBaseline 23 Oct 2026
      Dominant vWD Type 1 Secretion Defect (High FVIII/vWF:Ag Ratio) Caused by S2179F Mutation in D4 Domain in 3 Families With vWD SD

      Case: Proband 3 (S2179F)

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147, HP:0001892, HP:0030130

      (Reduced quantity of Von Willebrand factor, Abnormal bleeding, Impaired von Willibrand factor collagen binding activity)

      CaseHPOFreeText: normal to slightly prolonged Ivy BT, FVIII:C % = 26, VWF:Ag % = 6, VWF:RCo % = 6, VIII C/vWF:AG ratio = 4.3, vWF:Rco/vWF:AG ratio = 1.0

      CaseNOTHPOs: HP:0011871, HP:0030132

      (Impaired ristocetin-induced platelet aggregation, Absence of large von Willibrand factor multimers)

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NA

      PreviouslyPublished: PMID: 11992235

      Gene: VWF

      Variant: c.6536C>T (p.Ser2179Phe)

      HGVS: NM_000552.4(VWF):c.6536C>T (p.Ser2179Phe)

      ClinVarID: 100442; https://www.ncbi.nlm.nih.gov/clinvar/variation/100442/

      CAID:

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVarID:100442 PreviouslyPublished inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
    3. ClingenBaseline 22 Oct 2026
      Dominant vWD Type 1 Secretion Defect (High FVIII/vWF:Ag Ratio) Caused by S2179F Mutation in D4 Domain in 3 Families With vWD SD

      Case: Proband 2 (Family 2)

      DiseaseAssertion: VWD1

      FamilyInfo: 2 family members diagnosed with VWD1

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147, HP:0001892, HP:0030130, HP:0011871

      (Reduced quantity of Von Willebrand factor, Abnormal bleeding, Impaired von Willibrand factor collagen binding activity)

      CaseHPOFreeText: normal to slightly prolonged Ivy BT, FVIII:C % = 19, VWF:Ag % = 13, VWF:RCo % = 12, VIII C/vWF:AG ratio = 1.5, vWF:Rco/vWF:AG ratio = 0.9

      CaseNOTHPOs: HP:0030132

      (Absence of large von Willibrand factor multimers)

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NA

      PreviouslyPublished: PMID: 11992235

      Gene: VWF

      Variant: c.6536C>T (p.Ser2179Phe)

      HGVS: NM_000552.4(VWF):c.6536C>T (p.Ser2179Phe)

      ClinVarID: 100442; https://www.ncbi.nlm.nih.gov/clinvar/variation/100442/

      CAID:

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVarID:100442 PreviouslyPublished inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
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    journals.sagepub.com/doi/10.1177/1076029616647157