Alpha-2-plasmin Inhibitor Deficiency

Description

Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.

Clinical Features

Top most frequent phenotypes and symptoms related to Alpha-2-plasmin Inhibitor Deficiency

  • Nevus
  • Pain
  • Bruising susceptibility
  • Hematuria
  • Abnormal bleeding
  • Bone pain
  • Intracranial hemorrhage
  • Gingival bleeding
  • Neuroblastoma
  • Histiocytosis
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Alpha-2-plasmin Inhibitor Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, SERPINE1, VKORC1, F7, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1
Specificity
5 %
Genes
100 %
Anti-Plasmin Deficiency via SERPINF2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SERPINF2
Specificity
100 %
Genes
100 %
SERPINF2.

By Fulgent Genetics Fulgent Genetics in United States.

SERPINF2
Specificity
100 %
Genes
100 %

Alternate names

Alpha-2-plasmin Inhibitor Deficiency Is also known as antiplasmin deficiency, plasmin inhibitor deficiency;.



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