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hyperinsulinism due to INSR deficiency
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
Uniprot Description Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels.
Mondo Term and Equivalent IDs
MONDO:0012381: hyperinsulinism due to INSR deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070220
MESH:C566494
OMIM:609968
Orphanet:263458
SCTID:721235003
UMLS:C1864952
MONDO:0012381
High level summary of knowledge for a disease, including descriptions and datasource references.