THPH9
MCID: THR119
MIFTS: 13

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

Categories: Blood diseases, Cardiovascular diseases, Genetic 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 58 30 41 74
Thph9 58

Characteristics:

HPO:

33
thrombophilia, familial, due to decreased release of tissue plasminogen activator:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612348
MedGen 43 C2676721
UMLS 74 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

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 33 HP:0100724
2 recurrent deep vein thrombosis 33 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 30 PLAT

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

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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