Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Dysplasminogenemia

Plasminogen deficiency type 2 is an autosomal recessive disorder caused by mutations of the PLG gene. It is characterized by dysfunctional plasminogen though its antigen is prenst in plasma. As plansmin is the enzyme responsible for fibrinolysis thrombophilia ensues. Wound healing is not impaired.

Systematic

Hypoplasminogenemia
Dysplasminogenemia
PLG
Hypoplasminogenemia

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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Update: Sept. 26, 2018