MCID: THR119
MIFTS: 13

Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator

Categories: Blood diseases, Genetic 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 57 29 40 73
Thph9 57

Characteristics:

HPO:

32
thrombophilia, familial, due to decreased release of tissue plasminogen activator:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612348
MedGen 42 C2676721
UMLS 73 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 recurrent deep vein thrombosis and hypercoagulability

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...

Clinical features from OMIM:

612348

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

32
# Description HPO Frequency HPO Source Accession
1 recurrent deep vein thrombosis 32 HP:0004850
2 hypercoagulability 32 HP:0100724

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...

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 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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