Glycogen Storage Disease Xii (GSD12)

Alias:
Glycogen Storage Disease Type Xii
Aldolase a Deficiency
Glycogen Storage Disease Due to Aldolase a Deficiency
Glycogenosis Due to Aldolase a Deficiency
Gsd Due to Aldolase a Deficiency
Glycogen Storage Disease Type 12
Red Cell Aldolase Deficiency
Glycogenosis Type Xii
Glycogenosis Type 12
Aldoa Deficiency
Gsd Type Xii
Gsd Type 12
Gsd Xii
Gsd12
Storage Disease, Glycogen, Type Xii
Hnsha Due to Aldolase a Deficiency
Aldolase Deficiency, Red Cell
Glycogen Storage Disease 12
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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
糖原贮积病XII,也称为糖原贮积病型XII,与溶血性贫血和先天性非球形细胞溶血性贫血有关,症状包括黄疸。与糖原贮积病XII有关的重要基因是ALDOA(果糖双磷酸醛缩酶A)。相关组织包括肾脏和骨髓,相关表型为发热和循环醛缩酶浓度降低。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
2
4
5

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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