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GTR Home > Conditions/Phenotypes > Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

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

Synonyms
ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA; BLEEDING DISORDER, PLATELET-TYPE, 6; DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS; Epstein syndrome; Fechtner syndrome; Giant platelet syndrome with thrombocytopenia; MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS; MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS; MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS; MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian platelet syndrome; Sebastian syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: MYH9-Related Disease
MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 μm in diameter), thrombocytopenia (platelet count <150 x 109/L), and aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes. Most affected individuals develop one or more additional extrahematologic manifestations of the disease over their lifetime, including sensorineural hearing loss, renal disease (manifesting initially as glomerular nephropathy), presenile cataracts, and/or elevation of liver enzymes.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Anna Savoia
Alessandro Pecci
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Available tests

89 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (89 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT6, DFNA17, EPSTS, FTNS, MATINS, MHA, NMHC-II-A, NMMHC-IIA, NMMHCA, MYH9
    Summary: myosin heavy chain 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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