Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0019270 (
hernia
)
15,856
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The role of plasminogen in preventing thrombosis requires activation by tissue plasminogen activator (t-PA) encoded by
PLAT
. While case-control associations have been pursued for common variants in
PLAT
, no disease-causing mutations have been reported. We describe a consanguineous family with two children who died shortly after birth due to complications related to severe hydranencephaly and diaphragmatic
hernia
. A combined exome/autozygome analysis was carried out with informed consent. We identified a homozygous null mutation in
PLAT
that abrogated t-PA level in patient cells. This is the first reported human knockout mutation of
PLAT
. The apparent association with hydranencephaly, diaphragmatic
hernia
and postnatal lethality requires further validation.
...
PMID:A lethal phenotype associated with tissue plasminogen deficiency in humans. 2741 37
