MCID: ALP043
MIFTS: 40

Alpha-2-Plasmin Inhibitor Deficiency

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Alpha-2-Plasmin Inhibitor Deficiency

MalaCards integrated aliases for Alpha-2-Plasmin Inhibitor Deficiency:

Name: Alpha-2-Plasmin Inhibitor Deficiency 57 12 75 13 15 40 73
Plasmin Inhibitor Deficiency 57 12 75
Antiplasmin Deficiency 57 75
Congenital Alpha2-Antiplasmin Deficiency 59
Alpha-2-Plasmin Inhibitor Deficiency 37
Alpha-2-Plasmin Inhibitor 13
Antiplasmin Defiency 12
Aplid 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
alpha-2-plasmin inhibitor deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 262850
Disease Ontology 12 DOID:0060601
ICD10 33 D68.8
Orphanet 59 ORPHA79
ICD10 via Orphanet 34 D68.8
MedGen 42 C2752081
MeSH 44 D006474
KEGG 37 H00983
UMLS 73 C2752081

Summaries for Alpha-2-Plasmin Inhibitor Deficiency

OMIM : 57 Alpha-2-plasmin inhibitor deficiency is a rare autosomal recessive hemorrhagic diathesis. Most bleeds are severe, appear during childhood, and, in a few cases, umbilical bleeding is the first manifestation. Some homozygous patients present only moderate bleeding (Favier et al., 2001). (262850)

MalaCards based summary : Alpha-2-Plasmin Inhibitor Deficiency, also known as plasmin inhibitor deficiency, is related to anti-plasmin deficiency, congenital and spinal cord infarction. An important gene associated with Alpha-2-Plasmin Inhibitor Deficiency is SERPINF2 (Serpin Family F Member 2), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include bone and whole blood, and related phenotypes are hematuria and bruising susceptibility

UniProtKB/Swiss-Prot : 75 Alpha-2-plasmin inhibitor deficiency: An autosomal recessive disorder resulting in severe hemorrhagic diathesis.

Disease Ontology : 12 A hemorrhagic disease that has material basis in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.

Related Diseases for Alpha-2-Plasmin Inhibitor Deficiency

Diseases related to Alpha-2-Plasmin Inhibitor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 anti-plasmin deficiency, congenital 11.7
2 spinal cord infarction 10.2 F2 SERPINC1
3 fournier gangrene 10.2 F2 SERPINC1
4 sudden sensorineural hearing loss 10.2 F2 SERPINC1
5 blood protein disease 10.1 F2 SERPINC1
6 platelet aggregation, spontaneous 10.1 SERPINC1 SERPINF2
7 prothrombin deficiency, congenital 10.1 F2 SERPINC1
8 sagittal sinus thrombosis 10.1 F2 SERPINC1
9 cold urticaria 10.1 SERPINC1 SERPINF2
10 ischemic colitis 10.1 F2 SERPINC1
11 subendocardial myocardial infarction 10.1 F2 SERPINC1
12 sneddon syndrome 10.1 F2 SERPINC1
13 retinal artery occlusion 10.1 F2 SERPINC1
14 angina pectoris 10.1 SERPINC1 SERPINF2
15 esophageal varix 10.1 F2 SERPINC1
16 inherited blood coagulation disease 10.1 F2 SERPINC1
17 hepatic infarction 10.1 F2 SERPINC1
18 prothrombin deficiency 10.1 F2 SERPINC1
19 antithrombin iii deficiency 10.1 F2 SERPINC1
20 post-thrombotic syndrome 10.1 F2 SERPINC1
21 hypersplenism 10.1 F2 SERPINC1
22 peripheral vertigo 10.1 F2 SERPINC1
23 central retinal vein occlusion 10.1 F2 SERPINC1
24 hemorrhagic fever 10.1 F2 SERPINC1
25 branch retinal artery occlusion 10.1 F2 SERPINC1
26 portal vein thrombosis 10.1 F2 SERPINC1
27 patent foramen ovale 10.1 F2 SERPINC1
28 dysfibrinogenemia 10.1 F2 SERPINC1
29 factor xi deficiency 10.1 F2 SERPINC1
30 protein s deficiency 10.0 F2 SERPINC1
31 placental abruption 10.0 F2 SERPINC1
32 protein c deficiency 10.0 F2 SERPINC1
33 hemophilia b 10.0 F2 SERPINC1
34 ischemic optic neuropathy 10.0 F2 SERPINC1
35 intracranial hypertension 10.0 F2 SERPINC1
36 intermittent claudication 10.0 F2 SERPINC1
37 retinal vein occlusion 10.0 F2 SERPINC1
38 hepatitis a 10.0 F2 SERPINC1
39 factor x deficiency 10.0 F2 SERPINC1
40 nonarteritic anterior ischemic optic neuropathy 10.0 F2 SERPINC1
41 osteonecrosis 10.0 F2 SERPINC1
42 pulmonary edema 10.0 F2 SERPINC1
43 acute promyelocytic leukemia 9.9
44 leukemia 9.9
45 ischemia 9.9
46 thrombophilia due to thrombin defect 9.9 F2 SERPINC1
47 budd-chiari syndrome 9.9 F2 SERPINC1
48 cerebral falx meningioma 9.9 F2 PLG
49 homocysteinemia 9.9 F2 SERPINC1
50 schistosomiasis 9.9 F2 SERPINF2

Graphical network of the top 20 diseases related to Alpha-2-Plasmin Inhibitor Deficiency:



Diseases related to Alpha-2-Plasmin Inhibitor Deficiency

Symptoms & Phenotypes for Alpha-2-Plasmin Inhibitor Deficiency

Symptoms via clinical synopsis from OMIM:

57
Thorax:
hemothorax

Skin:
ecchymoses after minor trauma

Lab:
alpha-2-plasmin inhibitor deficiency
shortened euglobulin-lysis time
shortened whole blood clot lysis time
no circulating plasma alpha-2-plasmin inhibitor activity
normal plasma concentrations of alpha-2-ap antigen

Heme:
hemorrhagic diathesis
prolonged bleeding after minor trauma

Joints:
spontaneous joint hemorrhage


Clinical features from OMIM:

262850

Human phenotypes related to Alpha-2-Plasmin Inhibitor Deficiency:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
2 bruising susceptibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000978
3 bone pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002653
4 gingival bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000225
5 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
6 joint hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0005261
7 abnormal umbilical stump bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0011884
8 persistent bleeding after trauma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001934
9 hemothorax 59 32 frequent (33%) Frequent (79-30%) HP:0012151
10 intramuscular hematoma 59 32 frequent (33%) Frequent (79-30%) HP:0012233
11 reduced euglobulin clot lysis time 59 32 frequent (33%) Frequent (79-30%) HP:0040247
12 abnormal bleeding 59 Frequent (79-30%)

Drugs & Therapeutics for Alpha-2-Plasmin Inhibitor Deficiency

Search Clinical Trials , NIH Clinical Center for Alpha-2-Plasmin Inhibitor Deficiency

Genetic Tests for Alpha-2-Plasmin Inhibitor Deficiency

Anatomical Context for Alpha-2-Plasmin Inhibitor Deficiency

MalaCards organs/tissues related to Alpha-2-Plasmin Inhibitor Deficiency:

41
Bone, Whole Blood

Publications for Alpha-2-Plasmin Inhibitor Deficiency

Articles related to Alpha-2-Plasmin Inhibitor Deficiency:

# Title Authors Year
1
Acute myocardial ischemia in a patient with heterozygous alpha-2-plasmin inhibitor deficiency. ( 19593116 )
2009
2
Acute promyelocytic leukaemia and acquired alpha-2-plasmin inhibitor deficiency: a retrospective look at the use of epsilon-aminocaproic acid (Amicar) in 30 patients. ( 18613223 )
2008
3
Intramedullary multiple hematomas in siblings with congenital alpha-2-plasmin inhibitor deficiency: orthopedic surgery with protection by tranexamic acid. ( 1806461 )
1991
4
Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency. ( 3465267 )
1986

Variations for Alpha-2-Plasmin Inhibitor Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Alpha-2-Plasmin Inhibitor Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 SERPINF2 p.Val411Met VAR_013255 rs121965062

ClinVar genetic disease variations for Alpha-2-Plasmin Inhibitor Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINF2 SERPINF2, 1-BP INS, 1438C insertion Pathogenic
2 SERPINF2 NM_000934.3(SERPINF2): c.526_528delGAA (p.Glu176del) deletion Pathogenic rs121965061 GRCh37 Chromosome 17, 1650617: 1650619
3 SERPINF2 NM_000934.3(SERPINF2): c.526_528delGAA (p.Glu176del) deletion Pathogenic rs121965061 GRCh38 Chromosome 17, 1747323: 1747325
4 SERPINF2 NM_000934.3(SERPINF2): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs121965062 GRCh37 Chromosome 17, 1657583: 1657583
5 SERPINF2 NM_000934.3(SERPINF2): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs121965062 GRCh38 Chromosome 17, 1754289: 1754289

Expression for Alpha-2-Plasmin Inhibitor Deficiency

Search GEO for disease gene expression data for Alpha-2-Plasmin Inhibitor Deficiency.

Pathways for Alpha-2-Plasmin Inhibitor Deficiency

Pathways related to Alpha-2-Plasmin Inhibitor Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

GO Terms for Alpha-2-Plasmin Inhibitor Deficiency

Cellular components related to Alpha-2-Plasmin Inhibitor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.62 F2 PLG SERPINC1 SERPINF2
2 extracellular region GO:0005576 9.56 F2 PLG SERPINC1 SERPINF2
3 extracellular space GO:0005615 9.26 F2 PLG SERPINC1 SERPINF2
4 platelet alpha granule lumen GO:0031093 9.16 PLG SERPINF2
5 blood microparticle GO:0072562 8.92 F2 PLG SERPINC1 SERPINF2

Biological processes related to Alpha-2-Plasmin Inhibitor Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.54 F2 PLG SERPINC1
2 blood coagulation GO:0007596 9.5 F2 PLG SERPINC1
3 negative regulation of endopeptidase activity GO:0010951 9.49 SERPINC1 SERPINF2
4 negative regulation of peptidase activity GO:0010466 9.48 SERPINC1 SERPINF2
5 platelet degranulation GO:0002576 9.46 PLG SERPINF2
6 acute-phase response GO:0006953 9.43 F2 SERPINF2
7 positive regulation of collagen biosynthetic process GO:0032967 9.4 F2 SERPINF2
8 hemostasis GO:0007599 9.33 F2 PLG SERPINC1
9 regulation of blood coagulation GO:0030193 9.26 F2 SERPINC1
10 fibrinolysis GO:0042730 9.13 F2 PLG SERPINF2
11 negative regulation of fibrinolysis GO:0051918 8.8 F2 PLG SERPINF2

Molecular functions related to Alpha-2-Plasmin Inhibitor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.32 F2 SERPINC1
2 serine-type peptidase activity GO:0008236 9.26 F2 PLG
3 peptidase inhibitor activity GO:0030414 9.16 SERPINC1 SERPINF2
4 protease binding GO:0002020 8.96 SERPINC1 SERPINF2
5 serine-type endopeptidase inhibitor activity GO:0004867 8.62 SERPINC1 SERPINF2

Sources for Alpha-2-Plasmin Inhibitor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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