Erythrocytosis, Familial, 8 (ECYT8)

Alias:
Hemolytic Anemia Due to Diphosphoglycerate Mutase Deficiency
Diphosphoglycerate Mutase Deficiency of Erythrocyte
Deficiency of Bisphosphoglycerate Mutase
Bisphosphoglycerate Mutase Deficiency
Bisphosphoglyceromutase Deficiency
Bpgm Deficiency
Dpgm Deficiency
Ecyt8
Familial Erythrocytosis 8
Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency
Erythrocytosis, Familial, Type 8
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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
8号家族性红细胞增多症,又名二磷酸甘油酸酶缺乏引起的溶血性贫血,与原发性红细胞增多症和缺铁性贫血有关。与8号家族性红细胞增多症相关的基因是BPGM(二磷酸甘油酸酶),其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和由细胞色素P450进行的氧化。附属组织包括骨髓和骨,相关表型为红细胞增多症和血红蛋白浓度增加。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
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11
84
12

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
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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