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 intracranial embolism 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 Selenium Micronutrient Network. Affiliated tissues include skin and heart, and related phenotypes are spontaneous hematomas and hyperextensible skin

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 63)
# Related Disease Score Top Affiliating Genes
1 intracranial embolism 10.0 SERPINC1 PLAT
2 platelet aggregation, spontaneous 10.0 SERPINC1 PLAT
3 posterior myocardial infarction 10.0 SERPINC1 PLAT
4 encephalopathy, familial, with neuroserpin inclusion bodies 10.0 SERPINC1 PLAT
5 marantic endocarditis 10.0 SERPINC1 PLAT
6 endocarditis 10.0 PLAT SERPINC1
7 pleuropneumonia 10.0 SERPINC1 PLAT
8 intermediate coronary syndrome 10.0 PLAT SERPINC1
9 pulmonary artery disease 10.0 PLAT SERPINC1
10 dysfibrinogenemia 10.0 PLAT SERPINC1
11 angina pectoris 10.0 PLAT SERPINC1
12 thrombophilia 10.0 SERPINC1 SERPINE1
13 sticky platelet syndrome 10.0 SERPINE1 SERPINC1
14 aspirin allergy 10.0 SERPINE1 SERPINC1
15 blue toe syndrome 9.9 SERPINE1 SERPINC1
16 afibrinogenemia, congenital 9.9 PLAT SERPINC1
17 ischemic colitis 9.9 SERPINE1 SERPINC1
18 subendocardial myocardial infarction 9.9 SERPINE1 SERPINC1
19 livedoid vasculitis 9.9 SERPINE1 SERPINC1
20 meningococcemia 9.9 SERPINE1 SERPINC1
21 antiphospholipid syndrome 9.9 PLAT SERPINC1
22 post-thrombotic syndrome 9.9 SERPINE1 SERPINC1
23 retinal artery occlusion 9.9 SERPINC1 SERPINE1
24 legg-calve-perthes disease 9.9 SERPINE1 SERPINC1
25 patent foramen ovale 9.9 PLAT SERPINC1
26 plasminogen activator inhibitor-1 deficiency 9.9 SERPINE1 PLAT
27 portal vein thrombosis 9.9 SERPINC1 SERPINE1
28 central serous chorioretinopathy 9.9 SERPINE1 PLAT
29 hepatic vascular disease 9.9 SERPINC1 SERPINE1
30 carotid artery thrombosis 9.9 SERPINE1 PLAT
31 acute cor pulmonale 9.9 SERPINE1 PLAT
32 acute pulmonary heart disease 9.9 SERPINE1 PLAT
33 epileptic encephalopathy, childhood-onset 9.9 SERPINC1 SERPINE1
34 intracranial hypertension 9.9 SERPINC1 SERPINE1
35 intermittent claudication 9.9 SERPINC1 SERPINE1
36 retinal vein occlusion 9.9 SERPINC1 SERPINE1
37 chronic venous insufficiency 9.9 PLAT SERPINE1
38 venous insufficiency 9.9 PLAT SERPINE1
39 osteonecrosis 9.9 SERPINC1 SERPINE1
40 hellp syndrome 9.8 SERPINC1 SERPINE1
41 coronary artery anomaly 9.8 PLAT SERPINE1
42 cerebrovascular disease 9.8 PLAT SERPINE1
43 argentine hemorrhagic fever 9.7 SERPINE1 SERPINC1 PLAT
44 thrombophlebitis 9.7 SERPINE1 SERPINC1 PLAT
45 coronary thrombosis 9.7 SERPINE1 SERPINC1 PLAT
46 thrombosis 9.7 SERPINE1 SERPINC1 PLAT
47 hepatic veno-occlusive disease 9.7 SERPINE1 SERPINC1 PLAT
48 vein disease 9.7 SERPINE1 SERPINC1 PLAT
49 thrombophilia due to activated protein c resistance 9.7 SERPINE1 SERPINC1 PLAT
50 disseminated intravascular coagulation 9.7 SERPINE1 SERPINC1 PLAT

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
Skin:
spontaneous hematomas
hyperextensible skin
excessive bruising

Lab:
defect in fibrinolytic activity

Heme:
bleeding diathesis


Clinical features from OMIM:

134900

Human phenotypes related to Fibrinolytic Defect:

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

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, Heart

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 collagen-containing extracellular matrix GO:0062023 8.8 PLAT SERPINC1 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
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