Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transient neonatal diabetes mellitus 3

Transient neonatal diabetes mellitus 3 is an autosomal dominant disorder caused by certain activating mutations of the KCNJ11 gene.

Systematic

Neonatal diabetes mellitus
Leprechaunism
Mitchell-Riley syndrome
Neonatal diabetes mellitus with congenital hypothyroidism
Pancreatogenic diabetes
Permanent neonatal diabetes mellitus
Rabson-Mendenhall syndrome
Renal cysts and diabetes (RCAD)
Transient neonatal diabetes mellitus 1
Transient neonatal diabetes mellitus 2
Transient neonatal diabetes mellitus 3
KCNJ11
X-linked immunodysregulation, polyendocrinopathy, and enteropathy

References:

1.

Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients.

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2.

Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

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3.

Yorifuji T et al. (2005) The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

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4.

Gloyn AL et al. (2005) Relapsing diabetes can result from moderately activating mutations in KCNJ11.

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5.

Colombo C et al. (2005) Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation.

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6.

Edghill EL et al. (2007) Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

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7.

OMIM.ORG article

Omim 610582 [^]
Update: April 29, 2019