Thrombocytopenia with Beta-Thalassemia, X-Linked (XLTT)

Alias:
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Xltt
X-Linked Thrombocytopenia with Beta-Thalassemia
Gata1-Related X-Linked Cytopenia
Thrombocytopenia Platelet Dysfunction Hemolysis and Imbalanced Globin Synthesis
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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
β-地中海贫血伴血小板减少症,X连锁,又称血小板减少症、血小板功能障碍、溶血和不均衡的珠蛋白合成,与血小板减少症1和血小板减少症有关,症状包括皮肤紫癜。与β-地中海贫血伴血小板减少症,X连锁有关的重要基因是GATA1(GATA结合蛋白1),其相关通路/超级通路包括细胞质钙离子升高的反应和C-MYB转录因子网络。附属组织包括骨髓和骨,相关表型为脾肿大和贫血。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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11
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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