Details of Disease | DrugMAP

General Information of Disease (ID: DISZ2FSN)

Disease Name	Alpha-2-plasmin inhibitor deficiency
Synonyms	antiplasmin deficiency, congenital; congenital alpha2-antiplasmin deficiency; antiplasmin deficiency; anti-plasmin deficiency, congenital; alpha-2-plasmin inhibitor deficiency; antiplasmin defiency; plasmin inhibitor deficiency
Definition	Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder 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.
Disease Hierarchy	DISEXNCF: Coagulation protein disease DIS1DL2M: Inherited blood coagulation disorder DIS27CUA: Bleeding disorder DISZ2FSN: Alpha-2-plasmin inhibitor deficiency
Disease Identifiers	MONDO ID MONDO_0009883 MESH ID C537777 UMLS CUI C2752081 OMIM ID 262850 MedGen ID 414178 Orphanet ID 79

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERPINF2	OTZGAF8B	Definitive	Autosomal recessive	[1]
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References

1	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.