THPH9
MCID: THR119
MIFTS: 16

Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator (THPH9)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Thrombophilia, Familial, Due to Decreased Release of Tissue...

MalaCards integrated aliases for Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator:

Name: Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 56 29 39 71
Thph9 56

Characteristics:

HPO:

31
thrombophilia, familial, due to decreased release of tissue plasminogen activator:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 612348
MedGen 41 C2676721
UMLS 71 C2676721

Summaries for Thrombophilia, Familial, Due to Decreased Release of Tissue...

MalaCards based summary : Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator, is also known as thph9. An important gene associated with Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator is PLAT (Plasminogen Activator, Tissue Type). Related phenotypes are hypercoagulability and recurrent deep vein thrombosis

More information from OMIM: 612348

Related Diseases for Thrombophilia, Familial, Due to Decreased Release of Tissue...

Symptoms & Phenotypes for Thrombophilia, Familial, Due to Decreased Release of Tissue...

Human phenotypes related to Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator:

31
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 31 HP:0100724
2 recurrent deep vein thrombosis 31 HP:0004850

Clinical features from OMIM:

612348

Drugs & Therapeutics for Thrombophilia, Familial, Due to Decreased Release of Tissue...

Search Clinical Trials , NIH Clinical Center for Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator

Genetic Tests for Thrombophilia, Familial, Due to Decreased Release of Tissue...

Genetic tests related to Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator:

# Genetic test Affiliating Genes
1 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 29 PLAT

Anatomical Context for Thrombophilia, Familial, Due to Decreased Release of Tissue...

Publications for Thrombophilia, Familial, Due to Decreased Release of Tissue...

Articles related to Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator:

# Title Authors PMID Year
1
Genetic variation at the human tissue-type plasminogen activator (tPA) locus: haplotypes and analysis of association to plasma levels of tPA. 56
12891381 2003
2
Influence of the Alu-repeat I/D polymorphism in t-PA gene intron 8 on the stimulated t-PA release after venous occlusion. 56
12643326 2003
3
Identification of eight novel single-nucleotide polymorphisms at human tissue-type plasminogen activator (t-PA) locus: association with vascular t-PA release in vivo. 56
10959683 2000
4
Gene polymorphism of t-PA is associated with forearm vascular release rate of t-PA. 56
9974431 1999
5
Familial clustering of defective release of t-PA. 56
1958488 1991
6
Inherited fibrinolytic disorder due to an enhanced plasminogen activator level. 56
6543037 1984
7
A new life-long hemorrhagic disorder due to excess plasminogen activator. 56
6681588 1983
8
Venous thrombosis in a family with defective release of vascular plasminogen activator and elevated plasma factor VIII/von Willebrand's factor. 56
6401391 1983
9
A family with reduced plasminogen activator activity in blood associated with recurrent venous thrombosis. 56
6890710 1982
10
A family with thromboembolic disease associated with deficient fibrinolytic activity in vessel wall. 56
665314 1978

Variations for Thrombophilia, Familial, Due to Decreased Release of Tissue...

Expression for Thrombophilia, Familial, Due to Decreased Release of Tissue...

Search GEO for disease gene expression data for Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator.

Pathways for Thrombophilia, Familial, Due to Decreased Release of Tissue...

GO Terms for Thrombophilia, Familial, Due to Decreased Release of Tissue...

Sources for Thrombophilia, Familial, Due to Decreased Release of Tissue...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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