Aliases & Classifications for Fibrinolytic Defect

MalaCards integrated aliases for Fibrinolytic Defect:

Name: Fibrinolytic Defect 57 29 54 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
fibrinolytic defect:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 134900
MedGen 41 C1851184
SNOMED-CT via HPO 68 263681008
UMLS 70 C1851184

Summaries for Fibrinolytic Defect

MalaCards based summary : Fibrinolytic Defect is related to back pain and platelet aggregation, spontaneous. 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 liver and lung, and related phenotypes are spontaneous hematomas and hyperextensible skin

More information 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 85)
# Related Disease Score Top Affiliating Genes
1 back pain 10.2
2 platelet aggregation, spontaneous 10.0 SERPINC1 PLAT
3 intracranial embolism 10.0 SERPINC1 PLAT
4 anterior cerebral artery infarction 10.0 SERPINC1 PLAT
5 central retinal artery occlusion 10.0 SERPINC1 PLAT
6 encephalopathy, familial, with neuroserpin inclusion bodies 10.0 SERPINC1 PLAT
7 coronary restenosis 10.0 SERPINC1 PLAT
8 intracranial thrombosis 10.0 SERPINC1 PLAT
9 dysfibrinogenemia, congenital 10.0 SERPINC1 PLAT
10 central retinal vein occlusion 10.0 SERPINC1 PLAT
11 intermediate coronary syndrome 9.9 SERPINC1 PLAT
12 thrombotic thrombocytopenic purpura 9.9 SERPINC1 PLAT
13 varicose veins 9.9 SERPINC1 PLAT
14 sticky platelet syndrome 9.9 SERPINE1 SERPINC1
15 dic in newborn 9.9 SERPINE1 SERPINC1
16 moyamoya disease 1 9.9 SERPINC1 PLAT
17 livedoid vasculitis 9.9 SERPINE1 SERPINC1
18 meningococcemia 9.9 SERPINE1 SERPINC1
19 retinal artery occlusion 9.9 SERPINE1 SERPINC1
20 atrial heart septal defect 9.9 SERPINC1 PLAT
21 post-thrombotic syndrome 9.9 SERPINE1 SERPINC1
22 ischemic colitis 9.9 SERPINE1 SERPINC1
23 retinal vein occlusion 9.8 SERPINE1 SERPINC1
24 legg-calve-perthes disease 9.8 SERPINE1 SERPINC1
25 factor xiii deficiency 9.8 SERPINE1 SERPINC1
26 thrombophilia due to activated protein c resistance 9.8 SERPINE1 SERPINC1
27 hepatic vascular disease 9.8 SERPINE1 SERPINC1
28 plasminogen activator inhibitor-1 deficiency 9.8 SERPINE1 PLAT
29 central serous chorioretinopathy 9.8 SERPINE1 PLAT
30 protein c deficiency 9.8 SERPINE1 SERPINC1
31 intermittent claudication 9.8 SERPINE1 SERPINC1
32 intracranial hypertension 9.8 SERPINE1 SERPINC1
33 spinal arachnoiditis 9.8
34 quebec platelet disorder 9.8
35 arachnoiditis 9.8
36 blood platelet disease 9.8
37 spinal stenosis 9.8
38 placental insufficiency 9.8 SERPINE1 SERPINC1
39 osteonecrosis 9.8 SERPINE1 SERPINC1
40 alpha-1-antitrypsin deficiency 9.8 SERPINE1 SERPINC1
41 chronic venous insufficiency 9.8 SERPINE1 PLAT
42 venous insufficiency 9.8 SERPINE1 PLAT
43 homocysteinemia 9.8 SERPINE1 SERPINC1
44 aortic aneurysm, familial abdominal, 1 9.8 SERPINE1 SERPINC1
45 limb ischemia 9.8 SERPINE1 PLAT
46 arteriosclerosis 9.7 SERPINE1 SERPINC1
47 essential thrombocythemia 9.7 SERPINE1 SERPINC1
48 cerebrovascular disease 9.6 SERPINE1 PLAT
49 argentine hemorrhagic fever 9.6 SERPINE1 SERPINC1 PLAT
50 carotid artery thrombosis 9.6 SERPINE1 SERPINC1 PLAT

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



Diseases related to Fibrinolytic Defect

Symptoms & Phenotypes for Fibrinolytic Defect

Human phenotypes related to Fibrinolytic Defect:

31
# Description HPO Frequency HPO Source Accession
1 spontaneous hematomas 31 HP:0007420
2 hyperextensible skin 31 HP:0000974

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
spontaneous hematomas
hyperextensible skin
excessive bruising

Lab:
defect in fibrinolytic activity

Heme:
bleeding diathesis

Clinical features from OMIM®:

134900 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fibrinolytic Defect

Search Clinical Trials , NIH Clinical Center for Fibrinolytic Defect

Genetic Tests for Fibrinolytic Defect

Genetic tests related to Fibrinolytic Defect:

# Genetic test Affiliating Genes
1 Fibrinolytic Defect 29

Anatomical Context for Fibrinolytic Defect

MalaCards organs/tissues related to Fibrinolytic Defect:

40
Liver, Lung

Publications for Fibrinolytic Defect

Articles related to Fibrinolytic Defect:

(show all 27)
# Title Authors PMID Year
1
Inherited fibrinolytic hyperactivity. 57
5676420 1968
2
Menorrhagia due to a qualitative deficiency of plasminogen activator inhibitor-1: case report and literature review. 54 61
15247991 2004
3
Coagulation, fibrinolysis, and fibrin deposition in acute lung injury. 61 54
12682443 2003
4
Thrombophilia in ethnic Arabs in Kuwait. 61 54
9003158 1996
5
Impaired fibrinolysis and insulin resistance in patients with hypertension. 54 61
8735180 1996
6
The role of epidural fibrosis and defective fibrinolysis in the persistence of postlaminectomy back pain. 61 54
1835160 1991
7
Improved platelet counts during prolonged tranexamic therapy for Quebec platelet disorder implicate the underlying fibrinolytic defect as the cause of lower platelet counts. 61
33205919 2020
8
Traumatic-Induced Coagulopathy as a Systems Failure: A New Window into Hemostasis. 61
32069514 2020
9
Decreased fibrinolytic potential and morphological changes of fibrin structure in dermatitis herpetiformis. 61
27440075 2016
10
Antibodies to tissue-type plasminogen activator (tPA) in patients with antiphospholipid syndrome: evidence of interaction between the antibodies and the catalytic domain of tPA in 2 patients. 54
14630788 2004
11
Adult respiratory distress syndrome: do selective anticoagulants help? 61
14720025 2002
12
[Diabetes mellitus and fibrinolysis (experience with an in vitro clot lysis test)]. 61
7936609 1994
13
Unusual thrombotic-like retinopathy (Coats' disease) associated with congenital plasminogen deficiency type I. 61
8258756 1993
14
Hypercoagulability and thrombosis. 54
1452521 1992
15
Fibrinolytic defect in chronic back pain. 61
1534190 1992
16
Fibrinolytic defect in chronic back pain. A controlled study of plasminogen activator activity in 20 patients. 61
1835242 1991
17
Venous thrombosis and tissue plasminogen activator release deficiency: a family study. 54
1909902 1991
18
Fibrinolytic defect and chronic low-back pain. 61
2151500 1990
19
A fibrinolytic defect in the respiratory distress syndrome. 61
2242136 1990
20
Fibrinolysis during liver transplantation in humans: role of tissue-type plasminogen activator. 61
3128347 1988
21
Serial measurements of fibrinolytic activity in acute low back pain and sciatica. 61
2964731 1987
22
Fibrinolytic defect in chronic back pain. 61
2857385 1985
23
Fibrinolytic defect in chronic back pain. 61
2856969 1985
24
A fibrinolytic defect in chronic back pain syndromes. 61
6150238 1984
25
Fibrinolytic activity in the vein wall after surgery. 61
638451 1978
26
Effect of ethyloestrenol on fibrinolysis in the vessel wall. 61
974570 1976
27
Fletcher factor deficiency. A diminished rate of Hageman factor activation caused by absence of prekallikrein with abnormalities of coagulation, fibrinolysis, chemotactic activity, and kinin generation. 61
11344577 1974

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 collagen-containing extracellular matrix GO:0062023 8.8 SERPINE1 SERPINC1 PLAT

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 SERPINC1 PLAT
2 negative regulation of endopeptidase activity GO:0010951 9.16 SERPINE1 SERPINC1
3 negative regulation of peptidase activity GO:0010466 8.96 SERPINE1 SERPINC1
4 fibrinolysis GO:0042730 8.62 SERPINE1 PLAT

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 SERPINE1 SERPINC1
2 protease binding GO:0002020 8.96 SERPINE1 SERPINC1
3 serine-type endopeptidase inhibitor activity GO:0004867 8.62 SERPINE1 SERPINC1

Sources for Fibrinolytic Defect

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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