National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

MYH9 related thrombocytopenia


Other Names:
MYH9 related disorders; Sebastian syndrome (subtype); May-Hegglin anomaly (subtype); MYH9 related disorders; Sebastian syndrome (subtype); May-Hegglin anomaly (subtype); Fechtner syndrome (subtype); Epstein syndrome (subtype); 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 See More
Categories:
MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by mutations 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.[1] 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

Last updated: 1/22/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 20 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Congenital thrombocytopenia 0001905
30%-79% of people have these symptoms
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Elevated hepatic transaminase
High liver enzymes
0002910
Giant platelets 0001902
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Nephritis
Kidney inflammation
0000123
Nephropathy 0000112
Neutrophil inclusion bodies 0008264
Presenile cataracts 0007819
Prolonged bleeding time 0003010
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Sensorineural hearing impairment 0000407
Spontaneous, recurrent epistaxis
Recurring nosebleed
Spontaneous, recurrent nosebleed
[ more ] 		0004406
1%-4% of people have these symptoms
Myocardial infarction
Heart attack
0001658
Percent of people who have these symptoms is not available through HPO
Abnormal thrombosis
Abnormal blood clot
0001977
Autosomal dominant inheritance 0000006
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Leukocyte inclusion bodies 0040235
Thrombocytopenia
Low platelet count
0001873
Showing of 20 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
There is currently no cure for MYH9-related thrombocytopenia. Measures that can be taken to prevent bleeding episodes may include platelet transfusion, desmopressin, or antifibrinolytic drug administration prior to surgery or invasive procedures, and regular dental care to prevent bleeding of the gums. People with MYH9RD should avoid drugs that inhibit platelet function or blood coagulation, activities with high risk for injury, ototoxic drugs, hazardous noise, nephrotoxic agents (agents that are toxic to the kidneys), glucocorticoids (steroids) and radiation therapy. Bleeding episodes are treated with platelet transfusion and sometimes with desmopressin (this helps to shorten bleeding time in some people). People with bleeding episodes should be monitored for anemia. Once a year urine analysis (including 2-hour protein) and a measurement of serum concentration of creatinine should be done to monitor for kidney disease. Hearing and vision evaluations are needed every three years prior to onset of hearing loss and cataracts. Kidney complications, hearing loss, and cataracts are all managed in a standard fashion.[1]
Last updated: 1/21/2014

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Bernard-Soulier syndrome, Alport syndrome and immune thrombocytopenia purpura (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to MYH9 related thrombocytopenia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with MYH9 related thrombocytopenia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for MYH9 related thrombocytopenia:
    Italian Registry of MYH9-Related Disease
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on MYH9 related thrombocytopenia. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference has information on May-Hegglin anomaly which includes information on other MYH9-related thrombocytopenias. You may need to register to view this medical reference, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss MYH9 related thrombocytopenia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • How do I get rid of MYH 9 related thrombocytopenia? See answer


  1. Savoia A, Balduini CL. MYH9-Related Disorders. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK2689/. Accessed 4/11/2012.