Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to (HAGGSD)

Alias:
Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency
Anemia, Hemolytic, Due to Gamma-Glutamylcysteine Synthetase Deficiency
Gamma-Glutamylcysteine Synthetase Deficiency
Glutamate-Cysteine Ligase Deficiency
Haggsd
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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
γ-谷氨酰半胱氨酸合成酶缺乏症,溶血性贫血,也称为溶血性贫血,与谷氨酰-半胱氨酸合成酶缺乏症和溶血性贫血有关。与γ-谷氨酰半胱氨酸合成酶缺乏症,溶血性贫血相关的基因是GCLC(谷氨酰-半胱氨酸合成酶催化亚基)。相关组织包括骨髓和骨。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
7
7

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
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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