macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Findings
No curated finding names macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015912), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Giant plateletsHPOHP:0001902
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 1 of 1 reported patient
- Impaired epinephrine-induced platelet aggregationHPOHP:0008148
- 1 of 1 reported patient
- Leukocyte inclusion bodiesHPOHP:0040235
- 10 of 10 reported patients
- MacrothrombocytopeniaHPOHP:0040185
- 2 of 2 reported patients
- Megakaryocyte dysplasia
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYH9HGNC:7579
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
19 names
Resolves to: macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- Also called
- Epstein syndromeFechtner syndromeFTNSgiant platelet syndrome with thrombocytopeniamacrothrombocytopenia and progressive sensorineural deafnessmacrothrombocytopenia progressive deafnessMATINSMay-Hegglin anomalyMHAMYH9 related disordersMYH9-RDMYH9-related diseaseMYH9-related disorderMYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis and/or sensorineural hearing lossMYH9-related syndrome