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

Alias:

Fechtner Syndrome

May-Hegglin Anomaly

Sebastian Syndrome

Epstein Syndrome

Macrothrombocytopenia and Progressive Sensorineural Deafness

Macrothrombocytopenia with Leukocyte Inclusions

Dohle Leukocyte Inclusions with Giant Platelets

Giant Platelet Syndrome with Thrombocytopenia

Sebastian Platelet Syndrome

Matins

Bdplt6

Epstns

Ftns

Mha

Sbs

Macrothrombocytopenia, Granulocyte Inclusions with/without Nephritis or Sensorineural Hearing Loss

Macrothrombocytopenia, Nephritis, Deafness, and Leukocyte Inclusions

Macrothrombocytopenia with Dispersed Leukocytic Inclusions

Alport Syndrome with Macrothrombocytopenia, Formerly

Macrothrombocytopenia, Nephritis, and Deafness

Macrothrombocytopathy, Nephritis, and Deafness

Alport Syndrome, with Macrothrombocytopenia

Macrothrombocytopathy-Nephritis-Deafness

Bleeding Disorder, Platelet-Type, 6

Bleeding Disorder Platelet-Type 6

May-Hegglin Disorder

Epsteins Syndrome

Apsm, Formerly

Mpsd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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 Sertoli-Sertoli Cell Junction Dynamics and Activation of AMPK downstream of NMDARs. Affiliated tissues include kidney and eye, and related phenotypes are thrombocytopenia and macrothrombocytopenia

Related ID：

MALACARDS：MCR359

OMIM：155100

MESH：D013921