Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss (MATINS)

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OMIM 57 155100 MedGen 42 C0340978 MeSH 44 D013921

KEGG 37 H02051 H02052 H02053 H00578 more SNOMED-CT via HPO 69 263681008 29738008 52845002 386692008 12441001 249366005 128306009 193570009 247053007 609587005 79410001 34436003 53298000 24184005 38341003 302227002 424131007 425075004 77643000 22298006 302215000 415116008 44687006 74474003 197940006 433146000 194424005 95422003 more UMLS 73 C1854520 C0398641 C0403445

OMIM : ⁵⁷ Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to be comprised of 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. Fechtner syndrome was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional Alport syndrome (301050)-like features of nephritis, hearing loss, and eye abnormalities, predominantly cataracts (Peterson et al., 1985). May-Hegglin anomaly was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome was characterized by thrombocytopenia, deafness, and nephritis, and lacked leukocyte inclusion bodies on classic staining of peripheral blood smears. Sebastian syndrome was similar to May-Hegglin anomaly, but had a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders were not distinct entities, but rather represented a single disorder with a continuous clinical spectrum because variable phenotypic expression is observed not only between families but also within families having the same MYH9 mutation. In addition, Balduini et al. (2011) noted that all patients present leukocyte inclusion bodies, although of variable size. Seri et al. (2003) proposed the term 'MYH9-related disease' for the disorder; however, an isolated form of nonsyndromic deafness (DFNA17; 603622) is also caused by mutation in the MYH9 gene. (155100)

MalaCards based summary : Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss, also known as fechtner syndrome, is related to myh9 related thrombocytopenia and sick building syndrome. An important gene associated with Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are Tight junction and Regulation of actin cytoskeleton. Affiliated tissues include eye, kidney and neutrophil, and related phenotypes are hypertension and cataract

UniProtKB/Swiss-Prot : ⁷⁵ Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss: An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients.

Wikipedia : ⁷⁶ Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions,... more...

Clinical features from OMIM:

155100

Search Clinical Trials , NIH Clinical Center for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss

Search GEO for disease gene expression data for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss.