Details of Disease | DrugMAP

General Information of Disease (ID: DIS0R0IY)

Disease Name	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Synonyms	Brodie Chole griffin syndrome; MHA; bleeding disorder, Platelet-type, 6; matins; macrothrombocytopenia progressive deafness; Alport syndrome with macrothrombocytopenia, formerly; Brodie Chole gryphon syndrome; macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions; FTNS; macrothrombocytopenia, nephritis, and deafness; MYH9 related thrombocytopenia; MYH9 related disorders; Alport syndrome with macrothrombocytopenia; macrothrombocytopenia with dispersed leukocytic inclusions; May-Hegglin thrombocytopenia; Dohle leukocyte inclusions with giant platelets; macrothrombocytopenia with leukocyte inclusions; SBS; MYH-9 related disease; MYH9-RD; giant platelet syndrome with thrombocytopenia; Sebastian platelet syndrome; May-Hegglin anomaly; Epstein syndrome; MYH9-related disease; macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; macrothrombocytopenia and progressive sensorineural deafness; MYH9-related syndrome; Sebastian syndrome; MYH9-related disorder; MYH9-related syndromic thrombocytopenia; Fechtner syndrome
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.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISFXMTP: Syndromic constitutional thrombocytopenia DISIUNXT: Inherited bleeding disorder, platelet-type DIS0R0IY: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Disease Identifiers	MONDO ID MONDO_0015912 MESH ID C535507 UMLS CUI C5200934 OMIM ID 155100 MedGen ID 1704278 Orphanet ID 182050 SNOMED CT ID 712922002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH9	OT94Z706	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.