Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal recessive protein C deficiency

Autosomal recessive protein C deficiency is caused by mutations of the PROC gene. In contrast to the dominantly inherited form the mutations are not so severe such that a residual function may persist, and only if two alleles are affected a typical thrombophilia phenotype develops. Heterozygous carriers of those mutations usually have about 50% of the normal protein C activity.

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
Autosomal dominant protein S deficiency
Autosomal recessive protein C deficiency
PROC
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.

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

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2.

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.

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3.

Angelis M et al. (2001) En bloc heterotopic auxiliary liver and bilateral renal transplant in a patient with homozygous protein C deficiency.

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4.

HJORT PF et al. (1964) PURPURA FULMINANS. REPORT OF A CASE SUCCESSFULLY TREATED WITH HEPARIN AND HYDROCORTISONE. REVIEW OF 50 CASES FROM THE LITERATURE.

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5.

Dreyfus M et al. (1991) Treatment of homozygous protein C deficiency and neonatal purpura fulminans with a purified protein C concentrate.

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6.

Fong CY et al. (2010) Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C.

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7.

Tripodi A et al. (1990) Asymptomatic homozygous protein C deficiency.

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8.

Melissari E et al. (1989) Congenital severe protein C deficiency in adults.

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9.

Marlar RA et al. (1989) Diagnosis and treatment of homozygous protein C deficiency. Report of the Working Party on Homozygous Protein C Deficiency of the Subcommittee on Protein C and Protein S, International Committee on Thrombosis and Haemostasis.

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10.

Tuddenham EG et al. (1989) Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months.

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11.

Gruppo RA et al. (1988) Protein C deficiency resulting from possible double heterozygosity and its response to danazol.

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12.

Peters C et al. (1988) Homozygous protein C deficiency: observations on the nature of the molecular abnormality and the effectiveness of warfarin therapy.

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13.

Yuen P et al. (1986) Purpura fulminans in a Chinese boy with congenital protein C deficiency.

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14.

None (1985) Protein C in thromboembolic disease.

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15.

Soria J et al. (1985) Severe protein C deficiency in congenital thrombotic disease--description of an immunoenzymological assay for protein C determination.

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16.

Branson HE et al. (1983) Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant.

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17.

Seligsohn U et al. (1984) Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn.

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18.

Müller FM et al. (1996) Purpura fulminans in severe congenital protein C deficiency: monitoring of treatment with protein C concentrate.

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19.

OMIM.ORG article

Omim 612304 [^]
Update: April 29, 2019