Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal dominant protein C deficiency

Autosomal dominant protein C deficiency is caused by mutations of the PROC gene. In contrast to the recessively inherited form the mutations are so severe such that a single mutated allele causes a thrombophilia phenotype.

Classification

Clinical chemistry allows to distinguish three types of protein S deficiency: Type 1: The protein is reduced in plasma. Type 2: The protein concentration in plasma is normal but its activity reduced.[Error: Macro 'ref' doesn't exist]

Diagnosis

When measuring plasma concentration, warfarin and other vitamin K antagonists have to be discontinued sufficiently enough.

Systematic

Thromboembolic diseases
Autosomal dominant protein C deficiency
PROC
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
VKORC1

References:

1.

Debus O et al. (1998) Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly.

[^]
2.

Millar DS et al. (2000) Molecular genetic analysis of severe protein C deficiency.

[^]
3.

Gruppo R et al. (2000) Protein C deficiency related to valproic acid therapy: a possible association with childhood stroke.

[^]
4.

Lay AJ et al. (2005) Mice with a severe deficiency in protein C display prothrombotic and proinflammatory phenotypes and compromised maternal reproductive capabilities.

[^]
5.

Iijima K et al. (1991) A new hereditary abnormal protein C (protein C Yonago) with a dysfunctional Gla-domain.

[^]
6.

Romeo G et al. (1987) Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

[^]
7.

Bovill EG et al. (1989) The clinical spectrum of heterozygous protein C deficiency in a large New England kindred.

[^]
8.

Israels SJ et al. (1987) Childhood stroke associated with protein C or S deficiency.

[^]
9.

Clouse LH et al. (1986) The regulation of hemostasis: the protein C system.

[^]
10.

Conlan MG et al. (1988) Familial type II protein C deficiency associated with warfarin-induced skin necrosis and bilateral adrenal hemorrhage.

[^]
11.

Rocchi M et al. (1986) Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9.

[^]
12.

Mitchell CA et al. (1987) A fatal thrombotic disorder associated with an acquired inhibitor of protein C.

[^]
13.

Pabinger I et al. (1986) Coumarin induced acral skin necrosis associated with hereditary protein C deficiency.

[^]
14.

Mibashan RS et al. (1985) Prenatal diagnosis of hereditary protein C deficiency.

[^]
15.

Pabinger-Fasching I et al. (1985) Protein C deficiency in Austria.

[^]
16.

Mannucci PM et al. (1982) Deficiencies of protein C, an inhibitor of blood coagulation.

[^]
17.

Barbui T et al. (1984) Hereditary dysfunctional protein C (protein C Bergamo) and thrombosis.

[^]
18.

Bertina RM et al. (1984) The use of a functional and immunologic assay for plasma protein C in the study of the heterogeneity of congenital protein C deficiency.

[^]
19.

Pabinger-Fasching I et al. (1983) Protein C deficiency in two Austrian families.

[^]
20.

Broekmans AW et al. (1983) Congenital protein C deficiency and venous thromboembolism. A study of three Dutch families.

[^]
21.

Griffin JH et al. (1981) Deficiency of protein C in congenital thrombotic disease.

[^]
22.

Bertina RM et al. (1982) Protein C deficiency in a Dutch family with thrombotic disease.

[^]
23.

Reitsma PH et al. (1995) Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH.

[^]
24.

Hallam PJ et al. (1995) Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency.

[^]
25.

Gandrille S et al. (1995) Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM.

[^]
26.

Glueck CJ et al. (1994) Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease.

[^]
27.

Koeleman BP et al. (1994) Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families.

[^]
28.

Allaart CF et al. (1993) Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect.

[^]
29.

Berdeaux DH et al. (1993) Dysfunctional protein C deficiency (type II). A report of 11 cases in 3 American families and review of the literature.

[^]
30.

Reitsma PH et al. (1993) Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

[^]
31.

None (1996) Protein C deficiency: summary of the 1995 database update.

[^]
32.

OMIM.ORG article

Omim 176860 [^]
Update: April 29, 2019