DiseaseID 4093
心脏糖原贮积症
disease
NCI2016_02D:An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart, skeletal muscles,
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Disease: 1Experiment: 1Symptom: 5Target: 10Links: 16
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4093
- Core Entity Id
- 60388
- Source Entity Count
- 1
- Preferred Name
- Cardiac Glycogenosis
- Name Cn
- 心脏糖原贮积症
- Name Pinyin
- Xin Zang Tang Yuan Zhu Ji Zheng
- Name En
- Cardiac Glycogenosis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; 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; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart, skeletal muscles, liver, and nervous system.|MSH2017_2016_08_12:An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)|LNC256:Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.|CSP2006:autosomal recessively inherited glycogen storage disease caused by glucan 1,4-alpha-glucosidase deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy; the childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms; the adult form consists of a slowly progressive proximal myopathy.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cardiac Glycogenosis
Role
preferred
Name
Gaa Gene
Role
preferred
Name
Generalized Glycogen Storage Disease Of Infants
Role
preferred
Name
Adult Glycogen Storage Disease Type II
Role
preferred
Name
Glycogen Storage Disease Type II, Infantile
Role
preferred
Name
Glycogen Storage Disease Type II, Juvenile
Role
preferred
Name
Glycogen Storage Disease Type Ii
Role
preferred
Name
Alpha-1,4-Glucosidase Deficiency
Role
alias
Name
Glycogen Storage Disease Ii
Role
alias
Name
Pompe Disease
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001190HBDIS007824HBDIS008066HBDIS011178HBDIS011179HBDIS011180
Me Sh
D006009
Omim
232300
Umls
C0342751C1414899
Icd10
E74.02
Sym Map
SMDE08885SMDE08989SMDE09081
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0017921C0340420C0342751C0751172C0751173C0751174
Umls Sty
T019T047
Me Sh Class
C10C16C18
Tcmbank Disease
111621190150562345294394392
Itcmdb Generated
ITX-DISEASE-1AD1A36701D8ITX-DISEASE-619A11063B08
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
NCI2016_02D:An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart, skeletal muscles, liver, and nervous system.|MSH2017_2016_08_12:An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)|LNC256:Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.|CSP2006:autosomal recessively inherited glycogen storage disease caused by glucan 1,4-alpha-glucosidase deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy; the childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms; the adult form consists of a slowly progressive proximal myopathy.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome