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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Xii, also known as glycogen storage disease type xii, is related to hemolytic anemia and congenital nonspherocytic hemolytic anemia, and has symptoms including icterus An important gene associated with Glycogen Storage Disease Xii is ALDOA (Aldolase, Fructose-Bisphosphate A). Affiliated tissues include kidney and bone marrow, and related phenotypes are fever and reduced circulating aldolase concentration
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
2
4
5

Medical Symptom

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

Gene & Mutation

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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
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IF
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