MATINS
MCID: MCR359
MIFTS: 49
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Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss (MATINS)
Categories:
Genetic diseases, Rare diseases
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Aliases & Classifications for Macrothrombocytopenia and Granulocyte Inclusions with or Without...
MalaCards integrated aliases for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:
Name: Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss
57
19
73
28
5
16
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
macrothrombocytopenia and leukocyte inclusion bodies present at birth 35% sporadic cases vs. 65% familial cases severe abnormal bleeding are rare historically, the following eponyms were used to describe the myh9 macrothrombocytopenias - may-hegglin anomaly - thrombocytopenia, large platelets, and leukocyte inclusions (clustered ribosomes and parallel filaments) sebastian syndrome - thrombocytopenia, large platelets, and leukocyte inclusions (random ribosomes and dispersed filaments) fechtner syndrome - thrombocytopenia, large platelets, and leukocyte inclusions plus sensorineural hearing loss, cataracts, and nephritis epstein syndrome - thrombocytopenia, large platelets, and absence of leukocyte inclusions plus sensorineural hearing loss, and nephritis alport syndrome with macrothrombocytopenia: thrombocytopenia, large platelets, and absence of leukocyte inclusions plus sensorineural hearing loss, cataracts, and nephritis Classifications: |
MedlinePlus Genetics: 42 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 myh-9 related disease and bernard-soulier 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 PAK Pathway and ADORA2B mediated anti-inflammatory cytokines production. Affiliated tissues include kidney, eye and skin, and related phenotypes are sensorineural hearing impairment and macrothrombocytopenia 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 08-Dec-2022) GARD: 19 MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by genetic changes 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 UniProtKB/Swiss-Prot: 73 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 75 Epstein syndrome: Epstein syndrome is a rare genetic disease characterized by a mutation in the MYH9 gene in nonmuscle... more... Fechtner syndrome: Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions,... more... Macrothrombocytopenia with leukocyte inclusions: May-Hegglin anomaly (MHA), is a rare genetic disorder of the blood platelets that causes them to be... more... |
Symptoms & Phenotypes for Macrothrombocytopenia and Granulocyte Inclusions with or Without...
Human phenotypes related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:30 (show all 23)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:155100 (Updated 08-Dec-2022) |
Drugs & Therapeutics for Macrothrombocytopenia and Granulocyte Inclusions with or Without...
Interventional clinical trials:
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Genetic tests related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:
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Organs/tissues related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:
MalaCards :
Kidney,
Eye,
Skin,
Neutrophil,
Bone Marrow,
Bone,
Brain
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Articles related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:(show top 50) (show all 541)
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ClinVar genetic disease variations for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:5 (show top 50) (show all 302)
UniProtKB/Swiss-Prot genetic disease variations for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:73 (show all 16)
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Pathways related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss according to GeneCards Suite gene sharing:
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Biological processes related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss according to GeneCards Suite gene sharing:
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