Aliases & Classifications for Fibrinolytic Defect

MalaCards integrated aliases for Fibrinolytic Defect:

Name: Fibrinolytic Defect 57 55 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
fibrinolytic defect:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 134900
MedGen 42 C1851184
SNOMED-CT via HPO 69 263681008
UMLS 73 C1851184

Summaries for Fibrinolytic Defect

MalaCards based summary : Fibrinolytic Defect is related to platelet aggregation, spontaneous and intracranial embolism. An important gene associated with Fibrinolytic Defect is PLAT (Plasminogen Activator, Tissue Type), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Folate Metabolism. Affiliated tissues include skin, and related phenotypes are hyperextensible skin and spontaneous hematomas

Description from OMIM: 134900

Related Diseases for Fibrinolytic Defect

Diseases related to Fibrinolytic Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 platelet aggregation, spontaneous 10.1 PLAT SERPINC1
2 intracranial embolism 10.1 PLAT SERPINC1
3 coronary restenosis 10.1 PLAT SERPINC1
4 posterior myocardial infarction 10.0 PLAT SERPINC1
5 encephalopathy, familial, with neuroserpin inclusion bodies 10.0 PLAT SERPINC1
6 marantic endocarditis 10.0 PLAT SERPINC1
7 back pain 10.0
8 intermediate coronary syndrome 10.0 PLAT SERPINC1
9 dysfibrinogenemia 9.9 PLAT SERPINC1
10 vein disease 9.9 PLAT SERPINC1
11 sticky platelet syndrome 9.8 SERPINC1 SERPINE1
12 blue toe syndrome 9.8 SERPINC1 SERPINE1
13 subendocardial myocardial infarction 9.8 SERPINC1 SERPINE1
14 retinal artery occlusion 9.8 SERPINC1 SERPINE1
15 angina pectoris 9.8 SERPINC1 SERPINE1
16 meningococcemia 9.8 SERPINC1 SERPINE1
17 post-thrombotic syndrome 9.8 SERPINC1 SERPINE1
18 legg-calve-perthes disease 9.7 SERPINC1 SERPINE1
19 plasminogen activator inhibitor-1 deficiency 9.7 PLAT SERPINE1
20 central serous chorioretinopathy 9.7 PLAT SERPINE1
21 portal vein thrombosis 9.7 SERPINC1 SERPINE1
22 endocarditis 9.7 PLAT SERPINC1
23 hepatic vascular disease 9.7 SERPINC1 SERPINE1
24 carotid artery thrombosis 9.7 PLAT SERPINE1
25 antiphospholipid syndrome 9.7 PLAT SERPINC1
26 acute cor pulmonale 9.7 PLAT SERPINE1
27 intracranial hypertension 9.6 SERPINC1 SERPINE1
28 acute pulmonary heart disease 9.6 PLAT SERPINE1
29 epileptic encephalopathy, childhood-onset 9.6 SERPINC1 SERPINE1
30 paine syndrome 9.6
31 intermittent claudication 9.6 SERPINC1 SERPINE1
32 retinal vein occlusion 9.6 SERPINC1 SERPINE1
33 chronic venous insufficiency 9.6 PLAT SERPINE1
34 venous insufficiency 9.5 PLAT SERPINE1
35 osteonecrosis 9.5 SERPINC1 SERPINE1
36 cerebrovascular disease 9.2 PLAT SERPINE1
37 argentine hemorrhagic fever 9.2 PLAT SERPINC1 SERPINE1
38 thrombophlebitis 9.2 PLAT SERPINC1 SERPINE1
39 coronary thrombosis 9.2 PLAT SERPINC1 SERPINE1
40 hepatic veno-occlusive disease 9.1 PLAT SERPINC1 SERPINE1
41 thrombophilia due to activated protein c resistance 9.1 PLAT SERPINC1 SERPINE1
42 thrombophilia due to thrombin defect 9.1 PLAT SERPINC1 SERPINE1
43 disseminated intravascular coagulation 9.1 PLAT SERPINC1 SERPINE1
44 pulmonary embolism 9.1 PLAT SERPINC1 SERPINE1
45 peripheral vascular disease 9.1 PLAT SERPINC1 SERPINE1
46 arteries, anomalies of 9.1 PLAT SERPINC1 SERPINE1
47 thrombosis 9.1 PLAT SERPINC1 SERPINE1
48 hellp syndrome 9.1 PLAT SERPINC1 SERPINE1
49 acute myocardial infarction 9.1 PLAT SERPINC1 SERPINE1
50 thrombophilia 9.1 PLAT SERPINC1 SERPINE1

Graphical network of the top 20 diseases related to Fibrinolytic Defect:



Diseases related to Fibrinolytic Defect

Symptoms & Phenotypes for Fibrinolytic Defect

Symptoms via clinical synopsis from OMIM:

57
Heme:
bleeding diathesis

Lab:
defect in fibrinolytic activity

Skin:
hyperextensible skin
excessive bruising
spontaneous hematomas


Clinical features from OMIM:

134900

Human phenotypes related to Fibrinolytic Defect:

32
# Description HPO Frequency HPO Source Accession
1 hyperextensible skin 32 HP:0000974
2 spontaneous hematomas 32 HP:0007420

Drugs & Therapeutics for Fibrinolytic Defect

Search Clinical Trials , NIH Clinical Center for Fibrinolytic Defect

Genetic Tests for Fibrinolytic Defect

Anatomical Context for Fibrinolytic Defect

MalaCards organs/tissues related to Fibrinolytic Defect:

41
Skin

Publications for Fibrinolytic Defect

Articles related to Fibrinolytic Defect:

# Title Authors Year
1
Fibrinolytic defect in chronic back pain. ( 1534190 )
1992
2
Fibrinolytic defect in chronic back pain. A controlled study of plasminogen activator activity in 20 patients. ( 1835242 )
1991
3
Fibrinolytic defect and chronic low-back pain. ( 2151500 )
1990
4
A fibrinolytic defect in the respiratory distress syndrome. ( 2242136 )
1990
5
Fibrinolytic defect in chronic back pain. ( 2857385 )
1985
6
Fibrinolytic defect in chronic back pain. ( 2856969 )
1985
7
A fibrinolytic defect in chronic back pain syndromes. ( 6150238 )
1984

Variations for Fibrinolytic Defect

Expression for Fibrinolytic Defect

Search GEO for disease gene expression data for Fibrinolytic Defect.

Pathways for Fibrinolytic Defect

GO Terms for Fibrinolytic Defect

Cellular components related to Fibrinolytic Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.13 PLAT SERPINC1 SERPINE1
2 extracellular matrix GO:0031012 8.62 PLAT SERPINE1

Biological processes related to Fibrinolytic Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.26 PLAT SERPINC1
2 negative regulation of endopeptidase activity GO:0010951 9.16 SERPINC1 SERPINE1
3 negative regulation of peptidase activity GO:0010466 8.96 SERPINC1 SERPINE1
4 fibrinolysis GO:0042730 8.62 PLAT SERPINE1

Molecular functions related to Fibrinolytic Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.16 SERPINC1 SERPINE1
2 protease binding GO:0002020 8.96 SERPINC1 SERPINE1
3 serine-type endopeptidase inhibitor activity GO:0004867 8.62 SERPINC1 SERPINE1

Sources for Fibrinolytic Defect

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
Content
Loading form....