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Details
Link-It Detail - Disease - Glycogen Storage Disease Type IV
Debug Stats
  • ### Total Build Time: 51 ms 24.787 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 362 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 478 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
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.847 KB
  • CONCEPT_RELATIONSHIPS gt=37 ms Completed: 37 ms rowSize= 13.668 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 5.521 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Glycogen Storage Disease Type IV C0017923
Definition (1)
autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches; clinical features are muscle hypotonia and cirrhosis; death from liver disease usually occurs before age 2.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Glycogen Storage Disease C0017919
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
Relationships (42)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 36
diso_​to_​phen : 2


Relationships:
none : 4
alias_​of : 1
associated_​with : 3
manifestation_​of : 26
mapped_​to : 1
related_​to : 6
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN21img genetic aspects C0017399
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_CHEM13img 1,4-alpha-Glucan Branching Enzyme C0000052
DISO_to_CHEM9img 1,4-alpha-Glucan Branching Enzyme C0000052
DISO_to_CHEMassociated_withimg 1,4-alpha-Glucan 6alpha-glucosyltransferase (substance) C0628305
DISO_to_CHEMassociated_withimg Glycogen C0017911
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ATROPHY MUSCLE C0026846
DISO_to_DISOmanifestation_ofimg Allelic disorder to adult polyglucosan body disease (263570) C1856322
DISO_to_DISOmanifestation_ofimg Amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme) C1856314
DISO_to_DISOmanifestation_ofimg Ascites C0003962
DISO_to_DISOmanifestation_ofimg Broad tissue deposition of amylopectin-like material C1856315
DISO_to_DISOmanifestation_ofimg Cardiomyopathy (in a subset of patients) C1856316
DISO_to_DISOmanifestation_ofimg Caused by mutations in the glycogen branching enzyme gene (GBE1, 607839.0001) C1856317
DISO_to_DISOmapped_toimg Cirrhosis, familial, with deposition of abnormal glycogen C2936914
DISO_to_DISOmanifestation_ofimg Classic hepatic form begins in first months of life with hepatic failure and death by age 5 years C1856319
DISO_to_DISOmanifestation_ofimg Decrease/absent deep tendon reflexes C1866934
DISO_to_DISOmanifestation_ofimg Decreased fetal movement (in perinatal or congenital neuromuscular forms) C1856307
DISO_to_DISOmanifestation_ofimg ESOPHAGEAL VARICES C0014867
DISO_to_DISOmanifestation_ofimg Electron microscopy shows fibrillar aggregations typical of amylopectin C1856312
DISO_to_DISOmanifestation_ofimg Enlarged hepatocytes with periodic acid-Schiff-positive, diastase-resistant inclusions C1856311
DISO_to_DISOmanifestation_ofimg Extreme clinical heterogeneity C1856318
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Fetal hydrops (in perinatal or congenital neuromuscular forms) C1856309
DISO_to_DISOrelated_toimg GSD IV, CLASSIC HEPATIC C1856301
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanKCNJ123768potassium inwardly-rectifying channel, subfamily J, member 12
img GENERIF, Score=1000, Pubmed Id: 12034888, UMLKSK CUI: C0017923
HumanKCNJ63763potassium inwardly-rectifying channel, subfamily J, member 6
img GENERIF, Score=1000, Pubmed Id: 12034888, UMLKSK CUI: C0017923
HumanKCNJ33760potassium inwardly-rectifying channel, subfamily J, member 3
img GENERIF, Score=1000, Pubmed Id: 12034888, UMLKSK CUI: C0017923
HumanGBE12632glucan (1,4-alpha-), branching enzyme 1
img GENERIF, Score=1000, Pubmed Id: 18289670, UMLKSK CUI: C0017923
img GENERIF, Score=1000, Pubmed Id: 17915577, UMLKSK CUI: C0017923
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017923Glycogen Storage Disease Type IV0self