Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
pancreas
|
| gptkbp:alsoKnownAs |
gptkb:CHI
|
| gptkbp:associatedWith |
neurological impairment
persistent hypoglycemia |
| gptkbp:cause |
gptkb:hypoglycemia
|
| gptkbp:characterizedBy |
excess insulin secretion
|
| gptkbp:complication |
developmental delay
brain damage |
| gptkbp:diagnosedBy |
genetic testing
blood glucose test insulin level test |
| gptkbp:differentialDiagnosis |
gptkb:insulinoma
gptkb:hypopituitarism glycogen storage disease adrenal insufficiency |
| gptkbp:firstDescribed |
1950s
|
| gptkbp:hasGeneticCause |
ABCC8 gene mutation
GCK gene mutation GLUD1 gene mutation HADH gene mutation HNF1A gene mutation HNF4A gene mutation KCNJ11 gene mutation |
| https://www.w3.org/2000/01/rdf-schema#label |
congenital hyperinsulinism
|
| gptkbp:ICD-10_code |
E16.1
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D006949
|
| gptkbp:OMIM |
256450
|
| gptkbp:onset |
infancy
neonatal period |
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable
depends on treatment |
| gptkbp:riskFactor |
family history
consanguinity |
| gptkbp:symptom |
coma
seizures lethargy irritability poor feeding |
| gptkbp:treatment |
gptkb:octreotide
gptkb:diazoxide glucose infusion partial pancreatectomy |
| gptkbp:bfsParent |
gptkb:inwardly_rectifying_potassium_channels
gptkb:SLC16A1 |
| gptkbp:bfsLayer |
7
|