DiseaseID 4094
糖原贮积病
disease
Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive diffi
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Disease: 1Herb: 7Symptom: 12Target: 24Links: 43
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4094
- Core Entity Id
- 60389
- Source Entity Count
- 1
- Preferred Name
- Glycogen Storage Disease
- Name Cn
- 糖原贮积病
- Name Pinyin
- Tang Yuan Zhu Ji Bing
- Name En
- Glycogen Storage Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive diffi
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glycogen Storage Disease
Role
preferred
Name
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Role
preferred
Name
Glycogen Storage Disease Iii
Role
preferred
Name
Glycogen Storage Disease Iiia
Role
preferred
Name
Glycogen Storage Disease Iiib
Role
preferred
Name
Glycogen Storage Disease Ixb
Role
preferred
Name
Glycogen Storage Disease Ixc
Role
preferred
Name
Glycogen Storage Disease Type Iii
Role
preferred
Name
Glycogen Storage Disease, Type Ixa2
Role
preferred
Name
Glycogen Storage Disease, Type Ixd
Role
preferred
Name
Gsd Iiic
Role
preferred
Name
Phka2 Gene
Role
preferred
Name
Adult Polyglucosan Body Disease
Role
preferred
Name
GLYCOGEN STORAGE DISEASE IXa1
Role
preferred
Name
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Role
preferred
Name
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Role
preferred
Name
Glycogen Storage Disease IIIC
Role
preferred
Name
Glycogen Storage Disease Vii
Role
preferred
Name
AGL DEFICIENCY
Role
alias
Name
Amylo-1,6-glucosidase Deficiency
Role
alias
Name
CORI DISEASE
Role
alias
Name
Forbes Disease
Role
alias
Name
GDE Deficiency
Role
alias
Name
GLYCOGEN DEBRANCHER DEFICIENCY
Role
alias
Name
GLYCOGEN STORAGE DISEASE IIId
Role
alias
Name
GLYCOGENOSIS OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
Role
alias
Name
GSD Due To Glycogen Debranching Enzyme Deficien
Role
alias
Name
GSD IIIa
Role
alias
Name
GSD IIIb
Role
alias
Name
GSD IIId
Role
alias
Name
GSD IXb
Role
alias
Name
GSD IXc
Role
alias
Name
GSD IXd
Role
alias
Name
GSD Type 3
Role
alias
Name
GSD3
Role
alias
Name
GSD9B
Role
alias
Name
GSD9C
Role
alias
Name
GSD9D
Role
alias
Name
Glycogen Storage Disease Ixa
Role
alias
Name
Glycogen Storage Disease Ixa2
Role
alias
Name
Glycogen Storage Disease Ixd
Role
alias
Name
Glycogenosis Due To Glycogen Debranching Enzyme Deficiency
Role
alias
Name
Glycogenosis Type 3
Role
alias
Name
LIMIT DEXTRINOSIS
Role
alias
Name
MUSCLE GLYCOGENOSIS, X-LINKED
Role
alias
Name
MUSCLE PHOSPHORYLASE KINASE DEFICIENCY
Role
alias
Name
PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001188HBDIS001191HBDIS010019HBDIS016190HBDIS018692HBDIS018693HBDIS018694HBDIS019787HBDIS019958HBDIS022013
Me Sh
D006008D006010
Omim
232400261750300559306000613027
Umls
C0017919C0017922C0017925C0017926C0543514C1418533C1844412C1845151C1849722C1968739C1968740C1968741C1968742C2748941C2751643C2936915C2936916C3694531
Icd10
E74.0E74.00E74.03
Med Dra
10018462100532401005324110053250
Sym Map
SMDE00217SMDE01248SMDE01283SMDE01381SMDE01432SMDE02018SMDE02150SMDE03539SMDE03823SMDE04088SMDE09076SMDE09077SMDE09078SMDE09082SMDE09086SMDE09165SMDE12143
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0017919C0017922C0543514C1845151C1968739C1968740C1968741C2748941C2751643C3694531
Orphanet
206583366368369371
Umls Sty
T047
Me Sh Class
C16C18
Etcm Disease
Glycogen Storage Disease IiiGlycogen Storage Disease Ixa1Glycogen Storage Disease IxbGlycogen Storage Disease IxcGlycogen Storage Disease ViiGlycogen Storage Disease, Type Ixd
Tcmbank Disease
1399314322206962408324343254672651726711309743566
Itcmdb Generated
ITX-DISEASE-225A16EEEC50ITX-DISEASE-349A16F57C6BITX-DISEASE-36A69511B262ITX-DISEASE-389F3672DA7CITX-DISEASE-7198E1A5B991ITX-DISEASE-7FA2F87DB7BEITX-DISEASE-9BF14D8FDD29ITX-DISEASE-EA7D9DC146AAITX-DISEASE-F8E52311F099
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Glycogen Storage Disease Iii Details pageDisease Glycogen Storage Disease Ixa1 Details pageDisease Glycogen Storage Disease Ixb Details pageDisease Glycogen Storage Disease Ixc Details pageDisease Glycogen Storage Disease Vii Details pageDisease Glycogen Storage Disease, Type Ixd Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasegroup
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Glycogen Storage Disease Iii
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Liver diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Name
Glycogen Storage Disease Ixa1
Global Category
Genetic diseases;Metabolic diseases
Anatomical Category
Liver diseases
Disease Name
Glycogen Storage Disease Ixb
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Liver diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Name
Glycogen Storage Disease Ixc
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Liver diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Name
Glycogen Storage Disease Vii
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Liver diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Name
Glycogen Storage Disease, Type Ixd
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Liver diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Definition
Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive diffiGlycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.NCI2016_02D:A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness.|MSH2017_2016_08_12:An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.|CSP2006:autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle resulting in abnormal deposition of glycogen in muscle tissue; patients have severe congenital muscular dystrophy and are exercise intolerant.NCI2016_02D:An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the glycogen debranching enzyme. It results in the accumulation of structurally abnormal glycogen in the heart, skeletal muscles, and/or liver.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.|CSP2006:autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase; clinical course is similar to that of glycogen storage disease type I, but milder; massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age; levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes.NCI2016_02D:An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.|MSH2017_2016_08_12:A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.|CSP2006:any of a group of metabolic disorders characterized by excessive storage of glycogen.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome