Case: Proband 2 (P2)

DiseaseAssertion: VWD III

FamilyInfo:

Father

Lys157Glu 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): 0.94

PT ratio (seconds): 1.02

TT ratio (seconds): 0.98

VWF: Ag (IU/dL): 87.2

VWF:RCo (IU/dL): 80.3

FVIII:C (IU/dL): 97.8

BS: 1

Mother

Cys379Gly 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): 1.05

PT ratio (seconds): 1.17

TT ratio (seconds): 1.07

VWF: Ag (IU/dL): 8.0

VWF:RCo (IU/dL): 5.9

FVIII:C (IU/dL): 13.1

BS: 9

ParentalGenotype: n/a

Father: Lys157Glu, Heterozygous

Mother: Cys379Gly, Heterozygous

CasePresentingHPOs: n/a

CaseHPOFreeText:

Lys157Glu 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): 1.95

PT ratio (seconds): 1.04

TT ratio (seconds): 0.89

VWF: Ag (IU/dL): 3.0

VWF:RCo (IU/dL): 2.1

FVIII:C (IU/dL): 3.0

BS: 6

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

CasePreviousTesting: n/a

Gene: VWF

Variant:

Lys157Glu

Cys1165Arg

Compound heterozygous