DiseaseID 25951
糖原贮积症II型
Glycogen Storage Disease Ii
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: 1Formula: 15Herb: 2Symptom: 4Target: 18Links: 45
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25951
- Core Entity Id
- 118519
- Source Entity Count
- 1
- Preferred Name
- Glycogen Storage Disease Ii
- Name Cn
- 糖原贮积症II型
- Name Pinyin
- Tang Yuan Zhu Ji Zheng Ii Xing
- Name En
- Glycogen Storage Disease Ii
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- 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
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glycogen Storage Disease Ii
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0017921C2931347
Sym Map
SMDE01226
Etcm Disease
Glycogen Storage Disease Ii
Itcmdb Generated
ITX-DISEASE-F039F6B5CB5E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Glycogen Storage Disease Ii Details page
Basic Information
Disease Name
Glycogen Storage Disease Ii
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
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.