Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Hypoplasminogenemia

Plasminogen deficiency is an autosomal recessive disorder caused by mutations of the PLG gene. It is characterized by low levels or dysfunctional plasminogen.As plansmin is the enzyme responsible for fibrinolysis. a deficiency results in thrombophilia. In type 1 deficiency also wound healing is impaired.

Classification

Two types of mutations can be distinguished. With type 1 the protein is completely absent in plasma. With type two the antigen is present but dysfuntional. In type 2 deficiency wound healing is not impaired.

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
Dysplasminogenemia
PLG
Hypoplasminogenemia
PLG
MTHFR
PAI transcription modulator
Protein Z deficiency
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
VKORC1

References:

1.

Shigekiyo T et al. (1992) Type I congenital plasminogen deficiency is not a risk factor for thrombosis.

external link
2.

Mingers AM et al. (1997) Homozygous type I plasminogen deficiency.

external link
3.

Ramsey DT et al. () Ligneous conjunctivitis in four Doberman pinschers.

external link
4.

Nüssgens Z et al. (1993) Ligneous conjunctivitis. Ten years follow-up.

external link
5.

Marcus DM et al. (1990) Ligneous conjunctivitis with ear involvement.

external link
6.

Tefs K et al. (2006) Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients.

external link
7.

Schuster V et al. () Ligneous conjunctivitis.

external link
8.

Schuster V et al. (1999) Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.

external link
9.

Schott D et al. (1998) Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency.

external link
10.

Kao WW et al. (1998) Healing of corneal epithelial defects in plasminogen- and fibrinogen-deficient mice.

external link
11.

Drew AF et al. (1998) Ligneous conjunctivitis in plasminogen-deficient mice.

external link
12.

Schuster V et al. (1997) Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis.

external link
13.

Tait RC et al. (1996) Isolated familial plasminogen deficiency may not be a risk factor for thrombosis.

external link
14.

Bateman JB et al. () Ligneous conjunctivitis: an autosomal recessive disorder.

external link
15.

Dolan G et al. (1988) Thrombovascular disease and familial plasminogen deficiency: a report of three kindreds.

external link
16.

None (1990) Ligneous conjunctivitis: an ophthalmic disease with potentially fatal tracheobronchial obstruction. Laryngeal and tracheobronchial features.

external link
17.

Aoki N et al. (1978) Abnormal plasminogen. A hereditary molecular abnormality found in a patient with recurrent thrombosis.

external link
18.

OMIM.ORG article

Omim 217090 external link
19.

Orphanet article

Orphanet ID 722 external link
20.

Wikipedia article

Wikipedia EN (Plasmin) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits