Hyperinsulinism due to glucokinase deficiency

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000825 Hyperinsulinemic hypoglycemia Very frequent (99-80%)
HP:0001985 Hypoketotic hypoglycemia Very frequent (99-80%)
HP:0001988 Recurrent hypoglycemia Very frequent (99-80%)
HP:0008283 Fasting hyperinsulinemia Very frequent (99-80%)
HP:0030794 Abnormal C-peptide level Very frequent (99-80%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001324 Muscle weakness Frequent (79-30%)
HP:0002378 Hand tremor Frequent (79-30%)
HP:0012378 Fatigue Frequent (79-30%)
HP:0001259 Coma Occasional (29-5%)
HP:0005978 Type II diabetes mellitus Occasional (29-5%)
HP:0002270 Abnormality of the autonomic nervous system Very rare (4-1%)
HP:0012638 Abnormality of nervous system physiology Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
GCK glucokinase 2645