THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGENACTIVATOR

General Information (adopted from Orphanet):

Synonyms, Signs: THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR, INCLUDED
Number of Symptoms 3
OrphanetNr:
OMIM Id: 612348
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100724) Hypercoagulability 15 / 7739
2
(HPO:0004850) Recurrent deep vein thrombosis 4 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Johansson et al. (1978) studied a family in which thromboembolic disease was associated with impaired capacity for release of fibrinolytic activity from the vessel wall. In 4 generations of a family, 22 persons had a history of deep ...
Molecular genetics OMIM Among 51 healthy males, Jern et al. (1999) found that a 311-bp Alu insertion/deletion (I/D) polymorphism in intron 8 of the PLAT gene was significantly associated with the vascular release rate of tPA as assessed by a forearm ...