APLID
MCID: ALP043
MIFTS: 45

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 57 12 20 72 29 13 6 15 39 70
Plasmin Inhibitor Deficiency 57 12 72
Antiplasmin Deficiency 57 72
Congenital Alpha2-Antiplasmin Deficiency 58
Alpha-2-Plasmin Inhibitor Deficiency 36
Anti-Plasmin Deficiency, Congenital 20
Antiplasmin Deficiency, Congenital 20
Antiplasmin Defiency 12
Aplid 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
alpha-2-plasmin inhibitor deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060601
OMIM® 57 262850
KEGG 36 H00983
MeSH 44 D006474
ICD10 32 D68.8
ICD10 via Orphanet 33 D68.8
Orphanet 58 ORPHA79
MedGen 41 C2752081
UMLS 70 C2752081

Summaries for Alpha-2-Plasmin Inhibitor Deficiency

KEGG : 36 Alpha-2-plasmin inhibitor (a2-PI) deficiency is an autosomal recessive disorder resulting in severe hemorrhagic diathesis. Mutations in SERPINF2 gene cause a2-PI deficiency. A2-PI acts as the primary inhibitor of plasminogen, and its deficiency causes a rare bleeding disorder because of increased fibrinolysis.

MalaCards based summary : Alpha-2-Plasmin Inhibitor Deficiency, also known as plasmin inhibitor deficiency, is related to hemophilia 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 heart, bone and whole blood, 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.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 191)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.4 TFPI F7
2 acute promyelocytic leukemia 29.3 SERPINF2 SERPINC1 F3 F2 ANXA2
3 pre-eclampsia 29.2 SERPINF2 SERPINC1 F3 F2
4 disseminated intravascular coagulation 28.2 TFPI SERPINF2 SERPINC1 PLG F7 F3
5 platelet aggregation, spontaneous 10.3 SERPINF2 SERPINC1
6 cold urticaria 10.3 SERPINF2 SERPINC1
7 septicemic plague 10.2 SERPINF2 PLG
8 plasminogen deficiency, type i 10.2 SERPINF2 PLG
9 spinal cord infarction 10.2 SERPINC1 F2
10 lateral sinus thrombosis 10.2 SERPINC1 F2
11 perforated corneal ulcer 10.2 SERPINF2 PLG
12 pneumonic plague 10.2 SERPINF2 PLG
13 lateral myocardial infarction 10.2 SERPINC1 PLG
14 anterior spinal artery syndrome 10.2 PLG F2
15 abducens nerve disease 10.2 SERPINC1 F2
16 basilar artery occlusion 10.2 PLG F2
17 bubonic plague 10.2 SERPINF2 PLG
18 prothrombin deficiency, congenital 10.2 SERPINC1 F2
19 mastoiditis 10.2 SERPINC1 F2
20 kidney cortex necrosis 10.2 PLG F2
21 acute poststreptococcal glomerulonephritis 10.2 SERPINF2 PLG
22 heparin cofactor ii deficiency 10.2 SERPINC1 PLG
23 pleural empyema 10.2 PLG F2
24 sneddon syndrome 10.2 SERPINC1 F2
25 pseudomembranous conjunctivitis 10.1 SERPING1 PLG
26 ischemic colitis 10.1 SERPINC1 F2
27 aortic aneurysm, familial abdominal, 1 10.1
28 aortic aneurysm 10.1
29 brain edema 10.1
30 amyloidosis 10.1
31 47,xyy 10.1
32 head injury 10.1
33 dysfibrinogenemia, congenital 10.1 SERPINC1 F2
34 hypersplenism 10.1 SERPINC1 F2
35 protein c deficiency 10.1 SERPINC1 F2
36 retinal artery occlusion 10.1 SERPINC1 PLG F2
37 thoracic outlet syndrome 10.0 SERPINC1 PLG F2
38 anterior cerebral artery infarction 10.0 SERPINC1 PLG F2
39 central retinal artery occlusion 10.0 SERPINC1 PLG F2
40 antithrombin iii deficiency 10.0 SERPINC1 PLG F2
41 intermittent claudication 10.0 SERPINC1 F2
42 osteonecrosis 10.0 SERPINC1 PLG F2
43 korean hemorrhagic fever 10.0 SERPINF2 F3
44 heparin-induced thrombocytopenia 10.0 SERPINC1 F3
45 vulvar angiokeratoma 10.0 SERPINC1 F3
46 placental abruption 10.0 SERPINC1 F2
47 medulloadrenal hyperfunction 10.0 PLG F3
48 achenbach syndrome 10.0 F3 F2
49 renal pelvis squamous cell carcinoma 10.0 F3 F2
50 papillary adenofibroma 10.0 F3 F2

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0005261
2 persistent bleeding after trauma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001934
3 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
4 intramuscular hematoma 58 31 frequent (33%) Frequent (79-30%) HP:0012233
5 hemothorax 58 31 frequent (33%) Frequent (79-30%) HP:0012151
6 reduced euglobulin clot lysis time 58 31 frequent (33%) Frequent (79-30%) HP:0040247
7 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
8 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
9 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
10 bone pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002653
11 abnormal umbilical stump bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0011884
12 abnormal bleeding 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Alpha-2-Plasmin Inhibitor Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 ANXA2 F2 F3 F7 PLG SERPINC1
2 homeostasis/metabolism MP:0005376 9.23 ANXA2 F2 F3 F7 PLG SERPINC1

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

Genetic tests related to Alpha-2-Plasmin Inhibitor Deficiency:

# Genetic test Affiliating Genes
1 Alpha-2-Plasmin Inhibitor Deficiency 29 SERPINF2

Anatomical Context for Alpha-2-Plasmin Inhibitor Deficiency

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

40
Heart, Bone, Whole Blood, Brain, Cortex, Spinal Cord, Kidney

Publications for Alpha-2-Plasmin Inhibitor Deficiency

Articles related to Alpha-2-Plasmin Inhibitor Deficiency:

(show all 27)
# Title Authors PMID Year
1
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. 61 57 6
2572590 1989
2
Alpha2-plasmin-inhibitor deficiency (Miyasato disease). 61 57 6
82839 1978
3
A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin) gene associated with a bleeding tendency. 57 6
10583218 1999
4
Molecular basis for congenital deficiency of alpha 2-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence. 57 6
2496145 1989
5
Congenital deficiency of alpha 2-plasmin inhibitor in three sisters. 57 6
7095605 1982
6
A case of intramedullary haematoma associated with congenital alpha2-plasmin inhibitor deficiency. 61 57
9880645 1998
7
Heterozygote for plasmin inhibitor deficiency developing hemorrhagic tendency with advancing age. 57 61
9163066 1996
8
Intramedullary multiple hematomas in siblings with congenital alpha-2-plasmin inhibitor deficiency: orthopedic surgery with protection by tranexamic acid. 57 61
1806461 1991
9
Congenital alpha(2)-plasmin inhibitor deficiencies: a review. 57
11472338 2001
10
alpha 2-Antiplasmin Enschede: dysfunctional alpha 2-antiplasmin molecule associated with an autosomal recessive hemorrhagic disorder. 57
2445779 1987
11
Skeletal changes in congenital fibrinogen abnormalities. 57
7209579 1980
12
Homozygous alpha 2-antiplasmin deficiency. 57
89324 1979
13
Congenital deficiency of alpha 2-plasmin inhibitor associated with severe hemorrhagic tendency. 57
156196 1979
14
Plasmin inhibitor deficiency: A case report. 61
32128184 2020
15
Acute myocardial ischemia in a patient with heterozygous alpha-2-plasmin inhibitor deficiency. 61
19593116 2009
16
Acute promyelocytic leukaemia and acquired alpha-2-plasmin inhibitor deficiency: a retrospective look at the use of epsilon-aminocaproic acid (Amicar) in 30 patients. 61
18613223 2008
17
Bleeding and thrombotic problems in a patient with alpha2 plasmin inhibitor deficiency. 61
15670058 2005
18
Solvent/detergent-treated plasma: composition, efficacy, and safety. 61
15666659 2004
19
[Analysis of a single nucleotide deletion responsible for congenital plasmin inhibitor deficiency]. 61
14999928 2004
20
Implications of excessive fibrinolysis and alpha(2)-plasmin inhibitor deficiency in patients with severe head injury. 61
11846901 2001
21
[Hemorrhagic syndrome and isolated alpha 2-antiplasmin deficiency. Apropos of a case]. 61
9309264 1997
22
In vivo thrombin and plasmin activities in patients with acute promyelocytic leukemia (APL): effect of all-trans retinoic acid (ATRA) therapy. 61
7531260 1995
23
Direct evidence for systemic fibrinogenolysis in patients with acquired alpha 2-plasmin inhibitor deficiency. 61
8250008 1994
24
Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency. 61
3465267 1986
25
Fibrinolysis and acquired alpha-2 plasmin inhibitor deficiency in amyloidosis. 61
4036990 1985
26
Fibrin-associated plasminogen activation in alpha 2-plasmin inhibitor deficiency. 61
6626743 1983
27
Alpha 2-plasmin inhibitor deficiency. 61
84984 1979

Variations for Alpha-2-Plasmin Inhibitor Deficiency

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINF2 SERPINF2, 1-BP INS, 1438C Insertion Pathogenic 274 GRCh37:
GRCh38:
2 SERPINF2 NM_000934.3(SERPINF2):c.525_527AGA[1] (p.Glu176del) Microsatellite Pathogenic 275 rs121965061 GRCh37: 17:1650615-1650617
GRCh38: 17:1747321-1747323
3 SERPINF2 NM_000934.3(SERPINF2):c.1231G>A (p.Val411Met) SNV Pathogenic 276 rs121965062 GRCh37: 17:1657583-1657583
GRCh38: 17:1754289-1754289

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

72
# Symbol AA change Variation ID SNP ID
1 SERPINF2 p.Val411Met VAR_013255 rs121965062

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:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 TFPI SERPING1 SERPINF2 SERPINC1 PLG F7
2
Show member pathways
12.5 TFPI SERPINC1 F7 F3 F2
3
Show member pathways
11.97 PLG F7 F2
4
Show member pathways
11.76 TFPI SERPING1 SERPINF2 SERPINC1 PLG F7
5 11.39 TFPI SERPING1 SERPINF2 SERPINC1 PLG F7
6 11.17 SERPING1 PLG
7 10.99 TFPI PLG F2
8 10.76 PLG F2
9 10.58 F7 F2
10 10.55 SERPINF2 PLG ANXA2

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 9.91 SERPING1 SERPINF2 SERPINC1 PLG F2 ANXA2
2 extracellular region GO:0005576 9.81 TFPI SERPING1 SERPINF2 SERPINC1 PLG F7
3 cell surface GO:0009986 9.77 TFPI SERPINF2 PLG F3 ANXA2
4 blood microparticle GO:0072562 9.65 SERPING1 SERPINF2 SERPINC1 PLG F2
5 endoplasmic reticulum lumen GO:0005788 9.63 SERPINC1 F7 F2
6 extracellular space GO:0005615 9.61 TFPI SERPING1 SERPINF2 SERPINC1 PLG F7
7 platelet alpha granule lumen GO:0031093 9.58 SERPING1 SERPINF2 PLG
8 serine-type peptidase complex GO:1905286 9.32 F7 F3
9 collagen-containing extracellular matrix GO:0062023 9.23 SERPING1 SERPINF2 SERPINC1 PLG F7 F3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.73 SERPINC1 PLG F2
2 negative regulation of peptidase activity GO:0010466 9.73 TFPI SERPING1 SERPINF2 SERPINC1
3 negative regulation of endopeptidase activity GO:0010951 9.72 TFPI SERPING1 SERPINF2 SERPINC1 ANXA2
4 blood coagulation GO:0007596 9.7 TFPI SERPING1 SERPINC1 PLG F7 F3
5 platelet degranulation GO:0002576 9.69 SERPING1 SERPINF2 PLG
6 collagen fibril organization GO:0030199 9.58 SERPINF2 ANXA2
7 regulation of blood coagulation GO:0030193 9.58 SERPING1 SERPINC1 F2
8 acute-phase response GO:0006953 9.57 SERPINF2 F2
9 positive regulation of collagen biosynthetic process GO:0032967 9.55 SERPINF2 F2
10 blood coagulation, intrinsic pathway GO:0007597 9.54 SERPING1 F2
11 negative regulation of fibrinolysis GO:0051918 9.54 SERPINF2 PLG F2
12 positive regulation of blood coagulation GO:0030194 9.52 F7 F2
13 positive regulation of positive chemotaxis GO:0050927 9.49 F7 F3
14 response to thyroid hormone GO:0097066 9.48 F7 ANXA2
15 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.46 F7 F3
16 blood coagulation, extrinsic pathway GO:0007598 9.43 TFPI F7 F3
17 fibrinolysis GO:0042730 9.35 SERPING1 SERPINF2 PLG F2 ANXA2
18 hemostasis GO:0007599 9.17 TFPI SERPING1 SERPINC1 PLG F7 F3

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.56 PLG F7 F3 F2
2 serine-type peptidase activity GO:0008236 9.5 PLG F7 F2
3 peptidase inhibitor activity GO:0030414 9.46 TFPI SERPING1 SERPINF2 SERPINC1
4 endopeptidase inhibitor activity GO:0004866 9.37 TFPI SERPINF2
5 protease binding GO:0002020 9.26 SERPINF2 SERPINC1 F3 ANXA2
6 serine-type endopeptidase inhibitor activity GO:0004867 9.02 TFPI SERPING1 SERPINF2 SERPINC1 ANXA2

Sources for Alpha-2-Plasmin Inhibitor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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