Hyperinsulinemic hypoglycemia, familial, 2; HHF2

Disease ID:454
Name:Hyperinsulinemic hypoglycemia, familial, 2; HHF2
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Hyperinsulinemic hypoglycemia | Persistent hyperinsulinemic hypoglycemia of infancy
Database Links
Disease Ontology: DOID:13317
OMIM: 601820
Orphanet: ORPHA276603

Targets

Kir6.2
References:  1
Mutations:  Kir6.2 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Hyperinsulinemic hypoglycemia, familial, 2; HHF2

References

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1. Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S, Permutt MA. (1997) A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes, 46 (11): 1743-8. [PMID:9356020]