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Details
Link-It Detail - Disease - Congenital Hyperinsulinism
Debug Stats
  • ### Total Build Time: 24 ms 18.040 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 514 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=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1.818 KB
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 554 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 5.395 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 7.968 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital Hyperinsulinism C1257959
Definition (1)
A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Infant, Newborn, Diseases C0021290
img Hyperinsulinism C0020459
img Hypoglycemia C0020615
img Pancreatic Diseases C0030286
Children (1)
img Nesidioblastosis C0027773
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212903img Infant, Newborn, Diseases C0021290
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Hyperinsulinism C0020459
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Hypoglycemia C0020615
img Digestive System Diseases C0012242img Pancreatic Diseases C00302863img Pancreatic Diseases C0030286
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanABCC86833ATP-binding cassette, sub-family C (CFTR/MRP), member 8
img GENERIF, Score=1000, Pubmed Id: 17942822, UMLKSK CUI: C1257959
img GENERIF, Score=1000, Pubmed Id: 17597441, UMLKSK CUI: C1257959
img GENERIF, Score=673, Pubmed Id: 17575084, UMLKSK CUI: C1257959
img GENERIF, Score=1000, Pubmed Id: 18988933, UMLKSK CUI: C1257959
HumanKCNJ113767potassium inwardly-rectifying channel, subfamily J, member 11
img GENERIF, Score=1000, Pubmed Id: 16332676, UMLKSK CUI: C1257959
HumanGLUD12746glutamate dehydrogenase 1
img GENERIF, Score=1000, Pubmed Id: 11840195, UMLKSK CUI: C1257959
HumanGCK2645glucokinase (hexokinase 4)
img GENERIF, Score=1000, Pubmed Id: 18450771, UMLKSK CUI: C1257959
HumanDDC1644dopa decarboxylase (aromatic L-amino acid decarboxylase)
img GENERIF, Score=1000, Pubmed Id: 16403819, UMLKSK CUI: C1257959
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1257959Congenital Hyperinsulinism0self