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

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OMIM® 57 155100 OMIM Phenotypic Series 57 PS231200 KEGG 36 H00578 H02051 H02052 H02053 more MeSH 44 D013921

MedGen 41 C0340978 SNOMED-CT via HPO 68 12441001 22298006 249366005 263681008 29738008 302215000 302227002 34436003 386692008 415116008 424131007 425075004 433146000 44687006 52845002 53298000 60700002 609587005 74474003 77643000 79410001 more EFO 17 EFO_0009646 UMLS 70 C0398641 C0403445 C1854520

MedlinePlus Genetics : ⁴³ MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are small cells that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting.Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood.An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD).Some affected individuals develop cataracts in early adulthood that worsen over time.Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder.MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.

MalaCards based summary : Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss, also known as fechtner syndrome, is related to macrothrombocytopenia progressive deafness and brooke-spiegler 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 kidney, eye and neutrophil, and related phenotypes are sensorineural hearing impairment and high-frequency sensorineural hearing impairment

GARD : ²⁰ MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by mutations in the MYH9 gene and is characterized by large platelets and thrombocytopenia (low number of platelets) which increases the risk for mild to serious bleeding in the body or in the skin. Young-adult onset high frequency sensorineural hearing loss, presenile (early) cataract, and kidney disease also variably occurs in people with this condition. This condition is inherited in an autosomal dominant fashion. The following conditions, once thought to be separate, are now known to be part of MYH9RD. Epstein syndrome Fechtner syndrome May-Hegglin anomaly Sebastian syndrome

OMIM® : ⁵⁷ Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to comprise 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) (Updated 05-Apr-2021)

KEGG : ³⁶ The May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. It has been suggested that mutations in MYH9 result in this disease.

UniProtKB/Swiss-Prot : ⁷² 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 : ⁷³ Epstein syndrome is a rare genetic disease characterized by a mutation in the MYH9 gene in nonmuscle... more...

Clinical features from OMIM®:

155100 (Updated 05-Apr-2021)

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