Glycogen Storage Disease Ii malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cardiovascular diseases, Liver diseases, Blood diseases, Muscle diseases, Nephrological diseases, Endocrine diseases
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources
Aliases & Descriptions for Glycogen Storage Disease Ii:
Orphanet epidemiological data:52
glycogen storage disease type ii:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: any age
glycogen storage disease ii:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Liver diseases, Blood diseases, Muscle diseases, Nephrological diseases, Endocrine diseases
ICD10: 29 28
NIH Rare Diseases:46 Glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. this enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell. this accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. in 2006, the u.s. food and drug administration (fda) approved the enzyme replacement therapy myozyme as a treatment for all patients with glycogen storage disease type 2. another similar drug called lumizyme has recently been approved for the treatment this disease. last updated: 5/14/2015
MalaCards based summary: Glycogen Storage Disease Ii, also known as glycogen storage disease type ii, is related to glycogen storage disease due to acid maltase deficiency, infantile onset and glycogen storage disease due to acid maltase deficiency, late-onset, and has symptoms including seizures, gait disturbance and hypertrophic cardiomyopathy. An important gene associated with Glycogen Storage Disease Ii is GAA (Glucosidase Alpha, Acid), and among its related pathways are Galactose metabolism and Lysosome. Affiliated tissues include skeletal muscle, heart and liver, and related mouse phenotypes are muscle and behavior/neurological.
Disease Ontology:11 A glycogen storage disease that has material basis in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
Genetics Home Reference:24 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 muscles, impairs their ability to function normally.
OMIM:50 Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the... (232300) more...
NINDS:47 Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.
UniProtKB/Swiss-Prot:68 Glycogen storage disease 2: A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy.
Wikipedia:69 Lysosomal alpha-glucosidase (also called α-1,4-glucosidase and acid maltase) is an enzyme that in... more...
GeneReviews summary for NBK1261
Symptoms by clinical synopsis from OMIM:232300
Clinical features from OMIM:232300
Symptoms:52 (show all 25)
HPO human phenotypes related to Glycogen Storage Disease Ii:(show all 37)
UMLS symptoms related to Glycogen Storage Disease Ii:dyspnea, hepatomegaly, weakness
Drugs for Glycogen Storage Disease Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 27)
Interventional clinical trials:(show top 50) (show all 99)
Search NIH Clinical Center for Glycogen Storage Disease Ii
MalaCards organs/tissues related to Glycogen Storage Disease Ii:34
Skeletal muscle, Heart, Liver, Tongue
Articles related to Glycogen Storage Disease Ii:
UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ii:68 (show all 130)
Clinvar genetic disease variations for Glycogen Storage Disease Ii:5 (show all 53)
Search GEO for disease gene expression data for Glycogen Storage Disease Ii.
Pathways related to Glycogen Storage Disease Ii according to GeneCards Suite gene sharing:
Cellular components related to Glycogen Storage Disease Ii according to GeneCards Suite gene sharing:
Biological processes related to Glycogen Storage Disease Ii according to GeneCards Suite gene sharing:
Molecular functions related to Glycogen Storage Disease Ii according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet