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ONTOLOGY REPORT - ANNOTATIONS


Term:glycogen storage disease II
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Accession:DOID:2752 term browser browse the term
Definition: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)
Synonyms:exact_synonym: AMD;   Acid Alpha Glucosidase Deficiency;   Acid Alpha-Glucosidase Deficiencies;   Acid Maltase Deficiencies;   Acid Maltase Deficiency;   Acid Maltase Deficiency Disease;   Adult Glycogen Storage Disease Type II;   Alpha 1,4 Glucosidase Deficiency;   Alpha-1,4-Glucosidase Deficiencies;   Alpha-Glucosidase Deficiencies;   Alpha-Glucosidase Deficiency;   Deficiency of Alpha Glucosidase;   GAA Deficiencies;   GAA Deficiency;   GSD II;   GSD2;   GSD2s;   Generalized Glycogenoses;   Generalized Glycogenosis;   Glycogen Storage Disease II, Adult Form;   Glycogen Storage Disease II, Infantile Form;   Glycogen Storage Disease Type 2;   Glycogenosis 2;   Glycogenosis Type II;   Glycogenosis Type IIs;   Glycogenosis, type 2;   Infantile Glycogen Storage Disease Type II;   Juvenile Glycogen Storage Disease Type II;   Lysosomal alpha 1,4 Glucosidase Deficiency Disease;   Lysosomal alpha-1,4-glucosidase deficiency;   Pompe Disease;   Pompe's Disease;   Pompes Disease;   deficiency of glucoamylase;   deficiency of maltase;   glycogen storage disease type II
 primary_id: MESH:D006009
 alt_id: OMIA:000419;   OMIM:232300;   RDO:0002541
 xref: GARD:5714;   NCI:C84734
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glycogen storage disease II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:7240710
RGD:8554872
RGD:11554173
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:11554173
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872

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Term Annotations click to browse term
  disease 15036
    Nutritional and Metabolic Diseases 4255
      disease of metabolism 4255
        inherited metabolic disorder 1786
          lysosomal storage disease 392
            Lysosomal Storage Diseases, Nervous System 61
              glycogen storage disease II 3
                Cardiac Form of Generalized Glycogenosis 1
Path 2
Term Annotations click to browse term
  disease 15036
    Developmental Diseases 7870
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7198
        genetic disease 6569
          inherited metabolic disorder 1786
            carbohydrate metabolic disorder 291
              glycogen metabolism disorder 41
                glycogen storage disease 41
                  glycogen storage disease II 3
                    Cardiac Form of Generalized Glycogenosis 1
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