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

巨血小板减少症和粒细胞包涵体伴有或不伴有肾炎或感音神经性听力损失(来自ICD-11)

别称:

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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

巨血小板减少症和伴有或不伴有肾炎或感觉神经性听力损失的粒细胞包涵体，也称为费希特纳综合症，与myh-9相关疾病和伯纳德-索尔综合症有关。与巨血小板减少症和伴有或不伴有肾炎或感觉神经性听力损失相关的基因是MYH9（肌球蛋白重链9），其相关通路/超级通路包括Sertoli-Sertoli细胞连接动力学和NMDARs下游的AMPK激活。相关组织包括肾和眼，相关表型为血小板减少症和巨血小板减少症。

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