Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Autosomal dominanter Protein C-Mangel

Der autosomal dominante Protein C-Mangel wird durch Mutationen im PROC-Gen hervorgerufen. Im Unterschied zur rezessiven Form liegt hier eine so schwerwiegende Mutation vor, so dass ein einzelnes mutiertes Allel eine Thrombophilie auslösen kann.

Einteilung

Klinisch chemisch werden drei Typen des Protein S-Mangels unterschieden: Typ 1: Es liegt sowohl eine Mangel an nachweisbarem Protein und seiner Aktivität vor. Typ 2: Während die Proteinkonzentration normal ist, zeigt die Aktivität des reifen Proteins eine deutliche Verminderung.[Error: Macro 'ref' doesn't exist]

Diagnosestellung

Bei der Plasmabestimmung sollte man beachten, dass diese Protein Vitamin K-abhängig gebildet wird, also eine längere MArcumar-Pause vor der Abnahme erforderlich ist.

Gliederung

Venöse thromboembolische Erkrankungen
Autosomal dominanter Protein C-Mangel
PROC
Autosomal dominanter Protein S-Mangel
Autosomal rezessiver Protein C-Mangel
Autosomal rezessiver Protein S-Mangel
F2
F5
Faktor XII-Mangel
HABP2
Hyperhomozysteinämie bedingte Thrombose
Hypoplasminogenemie
MTHFR
PAI-Transkriptionsmodulator
Protein Z-Mangel
SERPINC1
THBD
Thrombophilie durch Heparin-Kofaktor 2-Mangel
VKORC1

Referenzen:

1.

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

external link
2.

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

external link
3.

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.

external link
4.

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.

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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.

external link
9.

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

external link
10.

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.

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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.

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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.

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

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

external link
32.

OMIM.ORG article

Omim 176860 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz