Case: Proband 1 (P1)

DiseaseAssertion: VWD III

FamilyInfo:

Father

Asp141Asn impaired multimerization of von Willebrand factor; reduced oxidoreductase activity

VWF are retained in the ER and fail to be transported to the Golgi

APTT ratio (seconds): 1.09

PT ratio (seconds): 1.15

TT ratio (seconds): 1.24

VWF: Ag (IU/dL): 48.4

VWF:RCo (IU/dL): 50.2

FVIII:C (IU/dL): 73.5

BS: 0

Mother

Gly39Arg impaired multimerization of von Willebrand factor; reduced oxidoreductase activity

VWF are retained in the ER and fail to be transported to the Golgi

APTT ratio (seconds): 1.12

PT ratio (seconds): 1.05

TT ratio (seconds): 0.91

VWF: Ag (IU/dL): 30.3

VWF:RCo (IU/dL): 36.4

FVIII:C (IU/dL): 50.6

BS: 1

ParentalGenotype: n/a

Father: Asp141Asn, Heterozygous

Mother: Gly39Arg, Heterozygous

CasePresentingHPOs: n/a

CaseHPOFreeText:

Asp141Asn and Gly39Arg impaired multimerization; reduced oxidoreductase activity; undetectable von Willebrand factor (VWF) multimer

VWF are retained in the ER and fail to be transported to the Golgi

APTT ratio (seconds): 2.24

PT ratio (seconds): 1.07

TT ratio (seconds): 0.97

VWF: Ag (IU/dL): 1.0

VWF:RCo (IU/dL): 2.3

FVIII:C (IU/dL): 2.0

BS: 6

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

CasePreviousTesting: n/a

Gene: VWF

Variant:

Asp141Asn

Gly39Arg

Compound heterozygous