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Diabetes mellitus, permanent neonatal; PNDM

Disease ID:281
Name:Diabetes mellitus, permanent neonatal; PNDM
Associated with:3 targets
Synonyms
DEND syndrome | Developmental delay-epilepsy-neonatal diabetes syndrome | Permanent neonatal diabetes mellitus
Database Links
OMIM: 606176
Orphanet: ORPHA99885, ORPHA79134

Targets

Kir6.2
Role:  Disregulation of insulin secretion by pancreatic β cells due to decreased sensitivity of KATP channels to ATP inhibiton.
Drugs:  Sulfonylureas, particularly glibenclamide
Side effects:  Diarrhoea during transfer from insulin to sulfonylurea treatment.
Therapeutic use:  PNDM due to most KCNJ11 mutations.
References:  1-3
Mutations:  Kir6.2 is associated with 17 mutation. Click here for details
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Glucokinase

Ligands

No ligand related data available for Diabetes mellitus, permanent neonatal; PNDM

References

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1. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J et al.. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N. Engl. J. Med., 350 (18): 1838-49. [PMID:15115830]

2. Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S et al.. (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]

3. Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V et al.. (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N. Engl. J. Med., 355 (5): 467-77. [PMID:16885550]