THPH9
MCID: THR119
MIFTS: 16

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

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory 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 57 29 39 70
Thph9 57

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM® 57 612348
MedGen 41 C2676721
SNOMED-CT via HPO 68 263681008 710167004
UMLS 70 C2676721

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

MalaCards based summary : Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator, also known as thph9, is related to thrombophilia due to decreased release of plat. An important gene associated with Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator is PLAT (Plasminogen Activator, Tissue Type). Related phenotype is recurrent deep vein thrombosis.

More information from OMIM: 612348

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

Diseases in the Thrombophilia family:

Thrombophilia Due to Thrombin Defect Thrombophilia Due to Activated Protein C Resistance
Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator Thrombophilia Due to Thrombomodulin Defect
Thrombophilia Due to Decreased Release of Plat Rare Hereditary Thrombophilia

Diseases related to Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thrombophilia due to decreased release of plat 11.8

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 recurrent deep vein thrombosis 31 HP:0004850

Clinical features from OMIM®:

612348 (Updated 20-May-2021)

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. 57
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. 57
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. 57
10959683 2000
4
Gene polymorphism of t-PA is associated with forearm vascular release rate of t-PA. 57
9974431 1999
5
Familial clustering of defective release of t-PA. 57
1958488 1991
6
Inherited fibrinolytic disorder due to an enhanced plasminogen activator level. 57
6543037 1984
7
A new life-long hemorrhagic disorder due to excess plasminogen activator. 57
6681588 1983
8
Venous thrombosis in a family with defective release of vascular plasminogen activator and elevated plasma factor VIII/von Willebrand's factor. 57
6401391 1983
9
A family with reduced plasminogen activator activity in blood associated with recurrent venous thrombosis. 57
6890710 1982
10
A family with thromboembolic disease associated with deficient fibrinolytic activity in vessel wall. 57
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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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