Glycogen Storage Disease Iv (GSD4)

Alias:
Glycogen Storage Disease Type Iv
Andersen Disease
Amylopectinosis
Glycogen Branching Enzyme Deficiency
Gsd Iv
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form
Glycogen Storage Disease, Type Iv
Glycogen Storage Disease Type 4
Glycogenosis Type Iv
Gsd Type Iv
Gsd4
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency
Glycogenosis Due to Glycogen Branching Enzyme Deficiency
Gsd Due to Glycogen Branching Enzyme Deficiency
Glycogen Storage Disease 4
Brancher Deficiency
Glycogenosis Type 4
Andersen's Disease
Gbe1 Deficiency
Glycogenosis Iv
Gsd Type 4
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic and Myopathic Form
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form
Glycogenosis Type Iv, Childhood Combined Hepatic and Myopathic Form
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form
Glycogen Storage Disease Type Iv, Progressive Hepatic Form
Cirrhosis, Familial, with Deposition of Abnormal Glycogen
Glycogen Storage Disease Type 4, Adult Neuromuscular Form
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form
Glycogen Storage Disease Type 4, Progressive Hepatic Form
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form
Gsdiv, Childhood Combined Hepatic and Myopathic Form
Glycogenosis Type Iv, Congenital Neuromuscular Form
Glycogenosis Type Iv, Childhood Neuromuscular Form
Glycogenosis Type 4, Congenital Neuromuscular Form
Gbe Deficiency, Fatal Perinatal Neuromuscular Form
Glycogenosis Type Iv, Non Progressive Hepatic Form
Glycogenosis Type 4, Childhood Neuromuscular Form
Glycogenosis Type 4, Non Progressive Hepatic Form
Deficiency of 1,4-Alpha-Glucan Branching Enzyme
Glycogenosis Type Iv, Adult Neuromuscular Form
Gsd Type 4, Fatal Perinatal Neuromuscular Form
Glycogenosis Type Iv, Progressive Hepatic Form
Branching-Transferase Deficiency Glycogenosis
Glycogenosis Type 4, Adult Neuromuscular Form
Gbe Deficiency, Congenital Neuromuscular Form
Glycogenosis Type 4, Progressive Hepatic Form
Gbe Deficiency, Childhood Neuromuscular Form
Gbe Deficiency, Non Progressive Hepatic Form
Gsd Type 4, Congenital Neuromuscular Form
Gsdiv, Fatal Perinatal Neuromuscular Form
Gsd Type 4, Childhood Neuromuscular Form
Gbe Deficiency, Adult Neuromuscular Form
Gsd Type 4, Non Progressive Hepatic Form
Gbe Deficiency, Progressive Hepatic Form
Gsd Type 4, Adult Neuromuscular Form
Gsdiv, Congenital Neuromuscular Form
Gsd Type 4, Progressive Hepatic Form
Gsdiv, Childhood Neuromuscular Form
Gsdiv, Non Progressive Hepatic Form
Storage Disease, Glycogen, Type Iv
Brancher Deficiency Glycogenosis
Gsdiv, Adult Neuromuscular Form
Gsdiv, Progressive Hepatic Form
Branching Enzyme Deficiency
Andersen Glycogenosis
Glycogenosis, Type Iv
Type Iv Glycogenosis
Glycogenosis 4
Gsd-Iv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycogen Storage Disease Iv, also known as glycogen storage disease type iv, is related to polyglucosan body myopathy 1 with or without immunodeficiency and glycogen storage disease iii, and has symptoms including hepatosplenomegaly and muscle weakness. An important gene associated with Glycogen Storage Disease Iv is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1), and among its related pathways/superpathways are Signal Transduction and Glycosaminoglycan metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are hepatomegaly and generalized abnormality of skin
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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33
347
105

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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IF
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