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Dysplasminogenemia

MedGen UID:
904685
•Concept ID:
C4225445
•
Disease or Syndrome
Synonym: PLASMINOGEN DEFICIENCY, TYPE II
 
Monarch Initiative: MONDO:0100538
OMIM®: 217090

Recent clinical studies

Etiology

Severe dysplasminogenemia due to homozygous PLG Ala620Thr variant in a Korean woman without a history of venous thromboembolism: A case report and literature review.
Lee B, Kim S, Lee JJ, Heo SH, Chung S, Jang SY, Kim SH, Kim DK, Kim HJ
Medicine (Baltimore) 2022 Mar 4;101(9):e29013. doi: 10.1097/MD.0000000000029013. PMID: 35244080Free PMC Article
The prevalence and clinical manifestation of hereditary thrombophilia in Korean patients with unprovoked venous thromboembolisms.
Lee SY, Kim EK, Kim MS, Shin SH, Chang H, Jang SY, Kim HJ, Kim DK
PLoS One 2017;12(10):e0185785. Epub 2017 Oct 17 doi: 10.1371/journal.pone.0185785. PMID: 29040284Free PMC Article
No association between dysplasminogenemia with p.Ala620Thr mutation and atypical hemolytic uremic syndrome.
Miyata T, Uchida Y, Yoshida Y, Kato H, Matsumoto M, Kokame K, Fujimura Y, Nangaku M
Int J Hematol 2016 Aug;104(2):223-7. Epub 2016 May 18 doi: 10.1007/s12185-016-2021-3. PMID: 27194432
A case of acute pulmonary embolism associated with dysplasminogenemia.
Yoo H, Kim HJ, Yi CA, Cho YY, Joung JY, Jeong H, Jeon K
J Korean Med Sci 2013 Jun;28(6):959-61. Epub 2013 Jun 3 doi: 10.3346/jkms.2013.28.6.959. PMID: 23772166Free PMC Article
Plasminogen deficiency.
Schuster V, Hügle B, Tefs K
J Thromb Haemost 2007 Dec;5(12):2315-22. Epub 2007 Sep 26 doi: 10.1111/j.1538-7836.2007.02776.x. PMID: 17900274

Diagnosis

Severe dysplasminogenemia due to homozygous PLG Ala620Thr variant in a Korean woman without a history of venous thromboembolism: A case report and literature review.
Lee B, Kim S, Lee JJ, Heo SH, Chung S, Jang SY, Kim SH, Kim DK, Kim HJ
Medicine (Baltimore) 2022 Mar 4;101(9):e29013. doi: 10.1097/MD.0000000000029013. PMID: 35244080Free PMC Article
The prevalence and clinical manifestation of hereditary thrombophilia in Korean patients with unprovoked venous thromboembolisms.
Lee SY, Kim EK, Kim MS, Shin SH, Chang H, Jang SY, Kim HJ, Kim DK
PLoS One 2017;12(10):e0185785. Epub 2017 Oct 17 doi: 10.1371/journal.pone.0185785. PMID: 29040284Free PMC Article
A case of acute pulmonary embolism associated with dysplasminogenemia.
Yoo H, Kim HJ, Yi CA, Cho YY, Joung JY, Jeong H, Jeon K
J Korean Med Sci 2013 Jun;28(6):959-61. Epub 2013 Jun 3 doi: 10.3346/jkms.2013.28.6.959. PMID: 23772166Free PMC Article
Genetic diagnosis of dysplasminogenemia: detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation.
Tsutsumi S, Saito T, Sakata T, Mlyata T, Ichinose A
Thromb Haemost 1996 Aug;76(2):135-8. PMID: 8865518
Macular choroidal occlusion in dysplasminogenemia.
Yamaguchi K, Abe S, Shiono T, Kimizuka Y, Hara S, Tamai M, Sugai K, Mori K
Retina 1991;11(4):423-5. doi: 10.1097/00006982-199111040-00010. PMID: 1813960

Therapy

A case of acute pulmonary embolism associated with dysplasminogenemia.
Yoo H, Kim HJ, Yi CA, Cho YY, Joung JY, Jeong H, Jeon K
J Korean Med Sci 2013 Jun;28(6):959-61. Epub 2013 Jun 3 doi: 10.3346/jkms.2013.28.6.959. PMID: 23772166Free PMC Article
Presence of two plasminogen alleles in normal populations.
Kida M, H-Kawabata M, Yamazaki T, Ichinose A
Thromb Haemost 1998 Jan;79(1):150-4. PMID: 9459341

Prognosis

A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor.
Dewald G
Biochem Biophys Res Commun 2018 Mar 25;498(1):193-198. doi: 10.1016/j.bbrc.2017.12.060. PMID: 29548426
The prevalence and clinical manifestation of hereditary thrombophilia in Korean patients with unprovoked venous thromboembolisms.
Lee SY, Kim EK, Kim MS, Shin SH, Chang H, Jang SY, Kim HJ, Kim DK
PLoS One 2017;12(10):e0185785. Epub 2017 Oct 17 doi: 10.1371/journal.pone.0185785. PMID: 29040284Free PMC Article
Management of ligneous conjunctivitis in a child with plasminogen deficiency.
Pergantou H, Likaki D, Fotopoulou M, Katsarou O, Xafaki P, Platokouki H
Eur J Pediatr 2011 Oct;170(10):1333-6. Epub 2011 May 31 doi: 10.1007/s00431-011-1483-9. PMID: 21625933

Clinical prediction guides

A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor.
Dewald G
Biochem Biophys Res Commun 2018 Mar 25;498(1):193-198. doi: 10.1016/j.bbrc.2017.12.060. PMID: 29548426
No association between dysplasminogenemia with p.Ala620Thr mutation and atypical hemolytic uremic syndrome.
Miyata T, Uchida Y, Yoshida Y, Kato H, Matsumoto M, Kokame K, Fujimura Y, Nangaku M
Int J Hematol 2016 Aug;104(2):223-7. Epub 2016 May 18 doi: 10.1007/s12185-016-2021-3. PMID: 27194432
Management of ligneous conjunctivitis in a child with plasminogen deficiency.
Pergantou H, Likaki D, Fotopoulou M, Katsarou O, Xafaki P, Platokouki H
Eur J Pediatr 2011 Oct;170(10):1333-6. Epub 2011 May 31 doi: 10.1007/s00431-011-1483-9. PMID: 21625933
Human homozygous type I plasminogen deficiency and ligneous conjunctivitis.
Mingers AM, Philapitsch A, Zeitler P, Schuster V, Schwarz HP, Kreth HW
APMIS 1999 Jan;107(1):62-72. doi: 10.1111/j.1699-0463.1999.tb01527.x. PMID: 10190281
IgA nephritis associated with plasminogen abnormalities.
Kitamoto Y, Nakayama M, Sakata Y, Taguchi H, Kuwahara K, Arima S, Ikezaki N, Nakano T, Kiyama S, Tomita M
Clin Nephrol 1990 Feb;33(2):61-5. PMID: 2311307

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