MCID: ANT038
MIFTS: 12

Anti-Plasmin Deficiency, Congenital

Categories: Rare diseases

Aliases & Classifications for Anti-Plasmin Deficiency, Congenital

MalaCards integrated aliases for Anti-Plasmin Deficiency, Congenital:

Name: Anti-Plasmin Deficiency, Congenital 54 30 6
Alpha-2-Plasmin Inhibitor Deficiency 54 74
Antiplasmin Deficiency, Congenital 54

Classifications:



External Ids:

UMLS 74 C2752081

Summaries for Anti-Plasmin Deficiency, Congenital

MalaCards based summary : Anti-Plasmin Deficiency, Congenital, also known as alpha-2-plasmin inhibitor deficiency, is related to alpha-2-plasmin inhibitor deficiency and acute promyelocytic leukemia. An important gene associated with Anti-Plasmin Deficiency, Congenital is SERPINF2 (Serpin Family F Member 2).

Related Diseases for Anti-Plasmin Deficiency, Congenital

Diseases related to Anti-Plasmin Deficiency, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alpha-2-plasmin inhibitor deficiency 12.9
2 acute promyelocytic leukemia 10.1
3 leukemia 10.1
4 ischemia 10.1

Symptoms & Phenotypes for Anti-Plasmin Deficiency, Congenital

Drugs & Therapeutics for Anti-Plasmin Deficiency, Congenital

Search Clinical Trials , NIH Clinical Center for Anti-Plasmin Deficiency, Congenital

Genetic Tests for Anti-Plasmin Deficiency, Congenital

Genetic tests related to Anti-Plasmin Deficiency, Congenital:

# Genetic test Affiliating Genes
1 Anti-Plasmin Deficiency, Congenital 30 SERPINF2

Anatomical Context for Anti-Plasmin Deficiency, Congenital

Publications for Anti-Plasmin Deficiency, Congenital

Articles related to Anti-Plasmin Deficiency, Congenital:

# 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
Implications of excessive fibrinolysis and alpha(2)-plasmin inhibitor deficiency in patients with severe head injury. ( 11846901 )
2001
4
Direct evidence for systemic fibrinogenolysis in patients with acquired alpha 2-plasmin inhibitor deficiency. ( 8250008 )
1994
5
Intramedullary multiple hematomas in siblings with congenital alpha-2-plasmin inhibitor deficiency: orthopedic surgery with protection by tranexamic acid. ( 1806461 )
1991
6
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
7
Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency. ( 3465267 )
1986
8
Fibrinolysis and acquired alpha-2 plasmin inhibitor deficiency in amyloidosis. ( 4036990 )
1985
9
Fibrin-associated plasminogen activation in alpha 2-plasmin inhibitor deficiency. ( 6626743 )
1983
10
Alpha 2-plasmin inhibitor deficiency. ( 84984 )
1979

Variations for Anti-Plasmin Deficiency, Congenital

ClinVar genetic disease variations for Anti-Plasmin Deficiency, Congenital:

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 Anti-Plasmin Deficiency, Congenital

Search GEO for disease gene expression data for Anti-Plasmin Deficiency, Congenital.

Pathways for Anti-Plasmin Deficiency, Congenital

GO Terms for Anti-Plasmin Deficiency, Congenital

Sources for Anti-Plasmin Deficiency, Congenital

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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