Paris-Trousseau syndrome (PTS) is an
inherited disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...
characterized by mild
hemorrhagic tendency associated with 11q
chromosome deletion.
It manifests as a granular defect within an individual's
platelets. It is characterized by
thrombocyte
Platelets, also called thrombocytes (from Greek θρόμβος, "clot" and κύτος, "cell"), are a component of blood whose function (along with the coagulation factors) is to react to bleeding from blood vessel injury by clumping, thereby ini ...
s with defects in α-granule components which affects the cell's surface area and, consequently, its ability to spread when necessary.
''
FLI1
Friend leukemia integration 1 transcription factor (FLI1), also known as transcription factor ERGB, is a protein that in humans is encoded by the ''FLI1'' gene, which is a proto-oncogene.
Function
Fli-1 is a member of the ETS transcription fa ...
'' has been suggested as a candidate.
See also
*
Jacobsen syndrome
References
External links
Genetic disorders with OMIM but no gene
Syndromes
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