Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thrombophilia due to heparin cofactor 2 deficiency

Thrombophilia due to heparin cofactor 2 deficiency is an autosomal dominant disorder caused by mutations of the SERPIND1-gene.

Systematic

Thromboembolic diseases
Autosomal dominant protein C deficiency
Autosomal dominant protein S deficiency
Autosomal recessive protein C deficiency
Autosomal recessive protein S deficiency
F2
F5
Factor XII deficiency
HABP2
Hyperhomocysteinemic thrombosis
Hypoplasminogenemia
MTHFR
PAI transcription modulator
Protein Z deficiency
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
SERPIND1
VKORC1

References:

1.

Herzog R et al. (1991) Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11.

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2.

Andersson TR et al. (1987) Low heparin cofactor II associated with abnormal crossed immunoelectrophoresis pattern in two Norwegian families.

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3.

Blinder MA et al. (1989) Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate.

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4.

Kondo S et al. (1996) Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji).

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5.

Kanagawa Y et al. (2001) Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima.

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6.

Matsuo T et al. (1992) Hereditary heparin cofactor II deficiency and coronary artery disease.

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7.

Tran TH et al. (1985) Association of hereditary heparin co-factor II deficiency with thrombosis.

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8.

Sie P et al. (1985) Constitutional heparin co-factor II deficiency associated with recurrent thrombosis.

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9.

Villa P et al. (1999) Hereditary homozygous heparin cofactor II deficiency and the risk of developing venous thrombosis.

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10.

OMIM.ORG article

Omim 612356 [^]
Update: April 29, 2019