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Details
Link-It Detail - Disease - Glycogen Storage Disease Type II
Debug Stats
  • ### Total Build Time: 131 ms 23.548 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 362 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 859 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=8 ms Completed: 8 ms rowSize= 1,020 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=20 ms Completed: 20 ms rowSize= 6.805 KB
  • CONCEPT_RELATIONSHIPS gt=85 ms Completed: 85 ms rowSize= 13.126 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Glycogen Storage Disease Type II C0017921
Definition (1)
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)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Glycogen Storage Disease C0017919
img Lysosomal Storage Diseases, Nervous System C0751738
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Glycogen Storage Disease C0017919
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Glycogen Storage Disease C0017919
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Lysosomal Storage Diseases, Nervous System C0751738
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Lysosomal Storage Diseases, Nervous System C0751738
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Lysosomal Storage Diseases, Nervous System C0751738
Relationships (49)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 5
diso_​to_​diso : 38
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 13
alias_​of : 1
isa : 5
manifestation_​of : 29
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM140img Alpha-glucosidase C0002272
DISO_to_PHEN84img genetic aspects C0017399
DISO_to_DISO53img Complication Aspects C1171258
DISO_to_PHEN44img genetic aspects C0017399
DISO_to_CHEM40img Alpha-glucosidase C0002272
DISO_to_ANAT34img Muscle, Skeletal C0242692
DISO_to_CHEM26img Glucan 1,4-alpha-Glucosidase C0015278
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_ANAT18img Muscle, Skeletal C0242692
DISO_to_ANAT13img In Blood C0005768
DISO_to_CHEM13img Glucan 1,4-alpha-Glucosidase C0015278
DISO_to_CHEM13img Glycogen C0017911
DISO_to_PHYS13img Mutation C0026882
DISO_to_DISOmanifestation_ofimg ABSENT DEEP TENDON REFLEXES C0241772
DISO_to_DISOmanifestation_ofimg Abnormal brain myelination C2673548
DISO_to_DISOalias_ofimg Cardiac form of generalized glycogenosis C2931347
DISO_to_DISOmanifestation_ofimg Cardiomegaly C0018800
DISO_to_DISOmanifestation_ofimg Caused by mutation in the alpha-1,4-glucosidase gene (GAA, 606800.0002) C2673550
DISO_to_DISOmanifestation_ofimg Cerebral arterial aneurysm C1290398
DISO_to_DISOmanifestation_ofimg Congenital macroglossia C0009677
DISO_to_DISOmanifestation_ofimg Creatine kinase, serum, elevated C1835870
DISO_to_DISOmanifestation_ofimg DIAPHRAGMATIC PARALYSIS C0035232
DISO_to_DISOisaimg Danon Disease C0878677
DISO_to_DISOmanifestation_ofimg Deficiency of alpha-1,4-glucosidase (acid maltase) C1856350
DISO_to_DISOmanifestation_ofimg Elevated AST and LDH, especially infantile-onset C1856348
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017921Glycogen Storage Disease Type II0self