MYH9 Related Thrombocytopenia
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MYH9 Related Thrombocytopenia Overview

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Learn About MYH9 Related Thrombocytopenia

What is the definition of MYH9 Related Thrombocytopenia?
MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by genetic changes in the MYH9 gene and is characterized by large platelets and thrombocytopenia (low number of platelets) which increases the risk for mild to serious bleeding in the body or in the skin. Young-adult onset high frequency sensorineural hearing loss, presenile (early) cataract, and kidney disease also variably occurs in people with this condition. This condition is inherited in an autosomal dominant fashion. The following conditions, once thought to be separate, are now known to be part of MYH9RD. Epstein syndrome Fechtner syndrome May-Hegglin anomaly Sebastian syndrome
What are the alternative names for MYH9 Related Thrombocytopenia?
  • MYH9 related thrombocytopenia
  • Epstein syndrome (subtype)
  • Fechtner syndrome (subtype)
  • MYH9 related disorders
  • MYH9-RD
  • MYH9-related disease
  • MYH9-related disorder
  • MYH9-related syndrome
  • MYH9-related syndromic thrombocytopenia
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • May-Hegglin anomaly (subtype)
  • Sebastian syndrome (subtype)
Who are the top MYH9 Related Thrombocytopenia Local Doctors?
Elite in MYH9 Related Thrombocytopenia
Alessandro Pecci
Elite in MYH9 Related Thrombocytopenia
Alessandro Pecci
Pavia, IT 

Alessandro Pecci practices in Pavia, Italy. Mr. Pecci is rated as an Elite expert by MediFind in the treatment of MYH9 Related Thrombocytopenia. His top areas of expertise are Bernard-Soulier Syndrome, Thrombocytopenia, MYH9 Related Thrombocytopenia, Gray Platelet Syndrome, and Splenectomy.

Distinguished in MYH9 Related Thrombocytopenia
Shinji Kunishima
Distinguished in MYH9 Related Thrombocytopenia
Shinji Kunishima
Sekimachi, JP 

Shinji Kunishima practices in Sekimachi, Japan. Mr. Kunishima is rated as a Distinguished expert by MediFind in the treatment of MYH9 Related Thrombocytopenia. His top areas of expertise are Thrombocytopenia, Bernard-Soulier Syndrome, MYH9 Related Thrombocytopenia, Periventricular Heterotopia, and Splenectomy.

 
 
 
 
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Distinguished in MYH9 Related Thrombocytopenia
Anna Savoia
Distinguished in MYH9 Related Thrombocytopenia
Anna Savoia
Verona, IT 

Anna Savoia practices in Verona, Italy. Ms. Savoia is rated as a Distinguished expert by MediFind in the treatment of MYH9 Related Thrombocytopenia. Her top areas of expertise are Bernard-Soulier Syndrome, Thrombocytopenia, MYH9 Related Thrombocytopenia, and Acquired Amegakaryocytic Thrombocytopenia.

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What are the latest MYH9 Related Thrombocytopenia Clinical Trials?
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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for MYH9 Related Thrombocytopenia?
Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease.
Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease.
Journal: Hematology (Amsterdam, Netherlands)
Published: July 21, 2025
Thrombocytopenia, renal failure and hearing loss in a young patient: MYH9-related disorder.
Thrombocytopenia, renal failure and hearing loss in a young patient: MYH9-related disorder.
Journal: BMJ case reports
Published: June 24, 2025
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Littoral cell angioma of the spleen and Epstein syndrome
Littoral cell angioma of the spleen and Epstein syndrome
Journal: Annales de pathologie
Published: January 31, 2025
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