Details of Disease

General Information of Disease (ID: DISYEZ45)

Disease Name	Congenital plasminogen activator inhibitor type 1 deficiency
Synonyms	hyperfibrinolysis due to Pai1 deficiency; plasminogen activator INHIBITOR-1 deficiency; plasminogen activator inhibitor type 1 deficiency; congenital plasminogen activator inhibitor type 1 deficiency; congenital PAI-1 deficiency
Disease Class	3B50: Inherited fibrinolytic defect
Definition	Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.
Disease Hierarchy	DISAWDAB: Congenital hematological disorder DISEXNCF: Coagulation protein disease DIS1DL2M: Inherited blood coagulation disorder DIS27CUA: Bleeding disorder DISYEZ45: Congenital plasminogen activator inhibitor type 1 deficiency
ICD Code	ICD-11 ICD-11: 3B50.1 Expand ICD-11 '3B50.1
Disease Identifiers	MONDO ID MONDO_0013227 MESH ID C567640 UMLS CUI C2750067 OMIM ID 613329 MedGen ID 412870 Orphanet ID 465

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Plasminogen	DM0EFQS	Phase 2/3	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SERPINE1	TTTO43N	Strong	CausalMutation	[2]
SERPINE1	TTTO43N	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERPINE1	OTT0MPQ3	Definitive	Autosomal recessive	[3]
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References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	Life-threatening hemorrhage and prolonged wound healing are remarkable phenotypes manifested by complete plasminogen activator inhibitor-1 deficiency in humans.J Thromb Haemost. 2011 Jun;9(6):1200-6. doi: 10.1111/j.1538-7836.2011.04288.x.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.