Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

Schuster V et al. () Ligneous conjunctivitis.

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

OMIM.ORG article

Omim 217090 [^]
19.

Orphanet article

Orphanet ID 722 [^]
20.

Wikipedia article

Wikipedia EN (Plasmin) [^]
Update: April 29, 2019