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macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

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Disease Overview

An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.

Synonyms

  • Alport syndrome with macrothrombocytopenia
  • Alport syndrome with macrothrombocytopenia, formerly
  • Brodie Chole griffin syndrome
  • Brodie Chole gryphon syndrome
  • Dohle leukocyte inclusions with giant platelets
  • Epstein syndrome
  • FTNS
  • Fechtner syndrome
  • MHA
  • MYH-9 related disease
  • MYH9 related disorders
  • MYH9 related thrombocytopenia
  • MYH9-RD
  • MYH9-related disease
  • MYH9-related disorder
  • MYH9-related syndrome
  • MYH9-related syndromic thrombocytopenia
  • May-Hegglin anomaly
  • May-Hegglin thrombocytopenia
  • SBS
  • Sebastian platelet syndrome
  • Sebastian syndrome
  • bleeding disorder, Platelet-type, 6
  • giant platelet syndrome with thrombocytopenia
  • macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • macrothrombocytopenia and progressive sensorineural deafness
  • macrothrombocytopenia progressive deafness
  • macrothrombocytopenia with dispersed leukocytic inclusions
  • macrothrombocytopenia with leukocyte inclusions
  • macrothrombocytopenia, nephritis, and deafness
  • macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions
  • matins
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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