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Diseases

Glycogen Storage Disease Ia

glycogen storage disease ia

Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

Core Information

Disease Name
Glycogen Storage Disease Ia
Standard Disease Name
glycogen storage disease ia
MeSH Tree
No data
ICD-10
E74.01

Identifiers

DO ID
No data
MeSH ID
D005953
OMIM ID
232200
UMLS ID
C0017920
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:An autosomal recessive inherited type of glycogen storage disease. It is characterized by a deficiency of the enzyme glucose-6-phosphatase, resulting in the inability of the liver to produce free glucose causing severe hypoglycemia. There is abnormal accumulation of glycogen in the liver and kidneys.|MSH2017_2016_08_12:An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.|CSP2006:autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production; accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly; increased concentrations of lactic acid and hyperlipidemia appear in the plasma; clinical gout often appears in early childhood.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
01
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
02
ALDOB
aldolase, fructose-bisphosphate B
aldolase, fructose-bisphosphate B
03
G6PC
glucose-6-phosphatase catalytic subunit
glucose-6-phosphatase catalytic subunit
04
GABRE
gamma-aminobutyric acid type A receptor subunit epsilon
gamma-aminobutyric acid type A receptor subunit epsilon
05
GBE1
1,4-alpha-glucan branching enzyme 1
1,4-alpha-glucan branching enzyme 1