Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities (XLANP)

Alias:

X-Linked Dyserythropoietic Anemia with Abnormal Platelets and Neutropenia

X-Linked Dyserythropoietic Anemia

Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalities

X-Linked Dyserythropoetic Anemia with Abnormal Platelets and Neutropenia

Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalitie

X-Linked Anemia with/without Neutropenia and/or Platelet Abnormalities

Anemia Without Thrombocytopenia, X-Linked

Anemia X-Linked with Variable Neutropenia

Xlanp

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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

血红蛋白病，X连锁型，伴有或不伴有中性粒细胞和/或血小板异常，也称为X连锁性红细胞生成障碍性贫血伴血小板和中性粒细胞异常，与血小板减少症，X连锁型，伴有或不伴有红细胞生成障碍性贫血和皮肤紫质病有关。与血红蛋白病，X连锁型，伴有或不伴有中性粒细胞和/或血小板异常相关的基因是GATA1（GATA结合蛋白1）。相关组织包括骨髓和骨，相关表型为异常粒细胞生成细胞形态和巨幼细胞性贫血。

Related ID：

MALACARDS：ANM044

OMIM：300835

MESH：D000740