Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Neonatal diabetes mellitus

The diseases included in this group of neonatal diabetes manifest before or shortly after birth. Two subgroups can be distinguished, permanent and transient neonatal diabetes.

Systematic

Diabetes mellitus
Diabetic nephropathy
Diabetic retinopathy
Gestational diabetes mellitus
Hereditary susceptibility to diabetes
Insulin resistance
MODY diabetes
Mitochondrial diabetes
Neonatal diabetes mellitus
Leprechaunism
INSR
Mitchell-Riley syndrome
RFX6
Neonatal diabetes mellitus with congenital hypothyroidism
GLIS3
Pancreatogenic diabetes
Mitchell-Riley syndrome
RFX6
Pancreatic agenesis 1
PDX1
Pancreatic agenesis 2
PTF1A
Pancreatic agenesis and congenital heart defects
GATA6
Permanent neonatal diabetes mellitus
ABCC8
Developmental delay, epilepsy, and neonatal diabetes
KCNJ11
GCK
INS
KCNJ11
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1
Wolcott-Rallison syndrome
EIF2AK3
Rabson-Mendenhall syndrome
INSR
Renal cysts and diabetes (RCAD)
HNF1B
Transient neonatal diabetes mellitus 1
HYMAI
PLAGL1
ZFP57
Transient neonatal diabetes mellitus 2
ABCC8
Transient neonatal diabetes mellitus 3
KCNJ11
X-linked immunodysregulation, polyendocrinopathy, and enteropathy
FOXP3
Noninsulin-dependent diabetes mellitus 1
Pancreatogenic diabetes
Severe obesity and type 2 diabetes
Susceptibility to type 1 diabetes 01

References:

1.

Njølstad PR et al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency.

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2.

Støy J et al. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes.

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3.

Edghill EL et al. (2008) Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

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4.

Polak M et al. (2008) Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.

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5.

Colombo C et al. (2008) Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

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6.

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

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7.

Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

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8.

Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

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9.

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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10.

Massa O et al. (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

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11.

Gloyn AL et al. (2006) KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

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12.

Shimomura K et al. (2007) A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

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13.

None (2000) Neonatal diabetes: new insights into aetiology and implications.

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14.

Gloyn AL et al. (2002) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

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15.

Zung A et al. (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

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16.

Pearson ER et al. (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

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17.

Stanik J et al. (2007) Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

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18.

Arthur EI et al. () Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin.

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19.

Flechtner I et al. (2006) Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.

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20.

Orphanet article

Orphanet ID 224 [^]
21.

Wikipedia article

Wikipedia EN (Neonatal_diabetes_mellitus) [^]
Update: May 9, 2019