Diabetes mellitus, permanent neonatal; PNDM

Disease ID:281
Name:Diabetes mellitus, permanent neonatal; PNDM
Associated with:3 targets
0 immuno-relevant targets
0 immuno-relevant ligands
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

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, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT. (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, 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]

3. Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT. (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]