APLID
MCID: ALP043
MIFTS: 42

Alpha-2-Plasmin Inhibitor Deficiency (APLID)

Categories: Blood diseases, Genetic 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 58 12 76 13 15 41 74
Plasmin Inhibitor Deficiency 58 12 76
Antiplasmin Deficiency 58 76
Congenital Alpha2-Antiplasmin Deficiency 60
Alpha-2-Plasmin Inhibitor Deficiency 38
Alpha-2-Plasmin Inhibitor 13
Antiplasmin Defiency 12
Aplid 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
alpha-2-plasmin inhibitor deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060601
OMIM 58 262850
KEGG 38 H00983
MeSH 45 D006474
ICD10 34 D68.8
ICD10 via Orphanet 35 D68.8
Orphanet 60 ORPHA79
MedGen 43 C2752081
UMLS 74 C2752081

Summaries for Alpha-2-Plasmin Inhibitor Deficiency

OMIM : 58 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 acute promyelocytic leukemia. 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, whole blood and liver, and related phenotypes are joint hemorrhage and persistent bleeding after trauma

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.

UniProtKB/Swiss-Prot : 76 Alpha-2-plasmin inhibitor deficiency: An autosomal recessive disorder resulting in severe hemorrhagic diathesis.

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 95)
# Related Disease Score Top Affiliating Genes
1 anti-plasmin deficiency, congenital 11.9
2 acute promyelocytic leukemia 10.1
3 leukemia 10.1
4 ischemia 10.1
5 thrombophilia 10.1 F2 SERPINC1
6 endocarditis 10.1 F2 SERPINC1
7 purpura 10.1 F2 SERPINC1
8 spinal cord infarction 10.1 F2 SERPINC1
9 fournier gangrene 10.1 F2 SERPINC1
10 platelet aggregation, spontaneous 10.1 SERPINC1 SERPINF2
11 prothrombin deficiency, congenital 10.1 F2 SERPINC1
12 sagittal sinus thrombosis 10.1 F2 SERPINC1
13 thrombosis 10.1 F2 SERPINC1
14 cold urticaria 10.1 SERPINC1 SERPINF2
15 ischemic colitis 10.1 F2 SERPINC1
16 subendocardial myocardial infarction 10.1 F2 SERPINC1
17 sneddon syndrome 10.1 F2 SERPINC1
18 esophageal varix 10.0 F2 SERPINC1
19 hepatic infarction 10.0 F2 SERPINC1
20 antithrombin iii deficiency 10.0 F2 SERPINC1
21 post-thrombotic syndrome 10.0 F2 SERPINC1
22 hypersplenism 10.0 F2 SERPINC1
23 peripheral vertigo 10.0 F2 SERPINC1
24 inherited blood coagulation disease 10.0 F2 SERPINC1
25 central retinal vein occlusion 10.0 F2 SERPINC1
26 retinal vein occlusion 10.0 F2 SERPINC1
27 blood protein disease 10.0 F2 SERPINC1
28 branch retinal artery occlusion 10.0 F2 SERPINC1
29 retinal artery occlusion 10.0 F2 SERPINC1
30 portal vein thrombosis 10.0 F2 SERPINC1
31 dysfibrinogenemia 10.0 F2 SERPINC1
32 factor xi deficiency 10.0 F2 SERPINC1
33 protein s deficiency 10.0 F2 SERPINC1
34 angina pectoris 10.0 SERPINC1 SERPINF2
35 placental abruption 10.0 F2 SERPINC1
36 protein c deficiency 10.0 F2 SERPINC1
37 hemophilia b 10.0 F2 SERPINC1
38 ischemic optic neuropathy 10.0 F2 SERPINC1
39 intracranial hypertension 10.0 F2 SERPINC1
40 intermittent claudication 10.0 F2 SERPINC1
41 factor x deficiency 10.0 F2 SERPINC1
42 nonarteritic anterior ischemic optic neuropathy 10.0 F2 SERPINC1
43 osteonecrosis 10.0 F2 SERPINC1
44 budd-chiari syndrome 10.0 F2 SERPINC1
45 homocysteinemia 10.0 F2 SERPINC1
46 cerebral falx meningioma 9.9 F2 PLG
47 thrombocytosis 9.9 F2 SERPINC1
48 femoral neuropathy 9.9 F2 PLG
49 varicose veins 9.9 F2 SERPINC1
50 acute poststreptococcal glomerulonephritis 9.9 PLG 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

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

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0005261
2 persistent bleeding after trauma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001934
3 hematuria 60 33 frequent (33%) Frequent (79-30%) HP:0000790
4 intramuscular hematoma 60 33 frequent (33%) Frequent (79-30%) HP:0012233
5 hemothorax 60 33 frequent (33%) Frequent (79-30%) HP:0012151
6 reduced euglobulin clot lysis time 60 33 frequent (33%) Frequent (79-30%) HP:0040247
7 bruising susceptibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0000978
8 bone pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002653
9 gingival bleeding 60 33 occasional (7.5%) Occasional (29-5%) HP:0000225
10 intracranial hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002170
11 abnormal umbilical stump bleeding 60 33 occasional (7.5%) Occasional (29-5%) HP:0011884
12 abnormal bleeding 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Bone, Whole Blood, Liver, Heart, Spinal Cord

Publications for Alpha-2-Plasmin Inhibitor Deficiency

Articles related to Alpha-2-Plasmin Inhibitor Deficiency:

(show all 14)
# 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
Bleeding and thrombotic problems in a patient with alpha2 plasmin inhibitor deficiency. ( 15670058 )
2005
4
Implications of excessive fibrinolysis and alpha(2)-plasmin inhibitor deficiency in patients with severe head injury. ( 11846901 )
2001
5
A case of intramedullary haematoma associated with congenital alpha2-plasmin inhibitor deficiency. ( 9880645 )
1998
6
Heterozygote for plasmin inhibitor deficiency developing hemorrhagic tendency with advancing age. ( 9163066 )
1996
7
Direct evidence for systemic fibrinogenolysis in patients with acquired alpha 2-plasmin inhibitor deficiency. ( 8250008 )
1994
8
Intramedullary multiple hematomas in siblings with congenital alpha-2-plasmin inhibitor deficiency: orthopedic surgery with protection by tranexamic acid. ( 1806461 )
1991
9
Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport. ( 2572590 )
1989
10
Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency. ( 3465267 )
1986
11
Fibrinolysis and acquired alpha-2 plasmin inhibitor deficiency in amyloidosis. ( 4036990 )
1985
12
Fibrin-associated plasminogen activation in alpha 2-plasmin inhibitor deficiency. ( 6626743 )
1983
13
Alpha 2-plasmin inhibitor deficiency. ( 84984 )
1979
14
Alpha2-plasmin-inhibitor deficiency (Miyasato disease). ( 82839 )
1978

Variations for Alpha-2-Plasmin Inhibitor Deficiency

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

76
# 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:

38
# 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 region GO:0005576 9.67 F2 PLG SERPINC1 SERPINF2
2 extracellular exosome GO:0070062 9.62 F2 PLG SERPINC1 SERPINF2
3 extracellular space GO:0005615 9.46 F2 PLG SERPINC1 SERPINF2
4 platelet alpha granule lumen GO:0031093 9.26 PLG SERPINF2
5 collagen-containing extracellular matrix GO:0062023 9.13 PLG SERPINC1 SERPINF2
6 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 platelet degranulation GO:0002576 9.48 PLG SERPINF2
5 negative regulation of peptidase activity GO:0010466 9.46 SERPINC1 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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