1. Mendelian
  2. Rare Disease Genes
  3. PLAT

PLAT gene related symptoms and diseases

All the information presented here about the PLAT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PLAT gene

Symptoms // Phenotype % Cases
Pneumonia Uncommon - Between 30% and 50% cases
Venous thrombosis Uncommon - Between 30% and 50% cases
Thromboembolism Uncommon - Between 30% and 50% cases
Deep venous thrombosis Uncommon - Between 30% and 50% cases
Hypercoagulability Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PLAT gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Persistent bleeding after trauma
  • Recurrent deep vein thrombosis
  • Venous occlusion
  • Hyperfibrinolysis

Rare diseases associated to PLAT gene

Here you will find a list of rare diseases related to the PLAT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR; THPH9

Most common symptoms of THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR; THPH9

  • Pneumonia
  • Venous thrombosis
  • Thromboembolism
  • Deep venous thrombosis
  • Hypercoagulability


More info about THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR; THPH9

SOURCES: OMIM MESH

LETHAL HYDRANENCEPHALY-DIAPHRAGMATIC HERNIA SYNDROME

Description

Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.


More info about LETHAL HYDRANENCEPHALY-DIAPHRAGMATIC HERNIA SYNDROME

SOURCES: ORPHANET


Potential gene panels for PLAT gene

PLAT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PLAT gene.

More info about this panel
United States.

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