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.

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

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

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

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

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

7.	Schuster V et al. () Ligneous conjunctivitis.

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

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

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

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

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

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

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

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

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

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

18.	OMIM.ORG article Omim 217090

19.	Orphanet article Orphanet ID 722

20.	Wikipedia article Wikipedia EN (Plasmin)

Update: April 15, 2025

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