Table 2.  Neonatal diabetes mellitus.

Gene or syndrome	Affected protein	Inheritance	Additional features	Treatment
Transient NDM
6q24 abnormalities ZAC (PLAG1), HYMA1 implicated	Implicated proteins: pleomorphic adenoma gene‐like 1, hydatiform mole‐associated and imprinted transcript	Spontaneous, AD	Low birthweight, macroglossia, umbilical hernia	Insulin, relapsed cases might respond to sulfonylureas and other oral medications
ABCC8	SUR1	Spontaneous, AD	Low birthweight	Responsive to sulfonylureas
KCNJ11	Kir6.2	Spontaneous, AD	Low birthweight, developmental delay; seizures	Responsive to sulfonylureas
INS	(Pro)insulin hormone	Recessive	Low birthweight	Insulin
Permanent NDM
KCNJ11	Kir6.2	Spontaneous, AD	Low birthweight, developmental delay; seizures	Responsive to sulfonylureas
ABCC8	SUR1	Spontaneous, AD, AR	Low birthweight	Responsive to sulfonylureas
INS	(Pro)insulin hormone	Spontaneous, AD, AR	Low birthweight	Insulin
GCK	Glucokinase	AR	Low birthweight, parents have GCK MODY (MODY2)	Insulin ± oral therapies
Syndromic NDM
FOXP3, IPEX syndrome	Forkhead box P3	X‐linked	Autoimmune diabetes and thyroid disease, immune dysregulation, enteropathy, exfoliative dermatitis, often early demise	Insulin
EIF2AK3, Wolcott–Rallison Syndrome	Eukaryotic translation initiation factor 2‐alpha kinase 3	AR	Epiphyseal dysplasia, exocrine pancreatic insufficiency	Insulin
PDX1 (IPF1)	Pancreatic duodenal homeobox 1 (insulin promoter factor 1)	AR	Agenesis of the pancreas, parents have IPF1 MODY (MODY4)	Insulin
PTF1A	Pancreas transcription factor 1A	AR	Pancreatic hypoplasia, cerebellar hypoplasia	Insulin
GLIS3	Glioma‐associated oncogene similar 3	AR	Congenital hypothyroidism, glaucoma, kidney cysts, hepatic fibrosis	Insulin
NEUROD1	Neurogenic differentiation 1	AR	Cerebellar hypoplasia, deafness	Insulin
HNF1B	Hepatocyte nuclear factor 1‐beta	Spontaneous, AD	Renal and genitourinary abnormalities, atrophy of the pancreas	Insulin

AD, autosomal dominant; AR, autosomal recessive; NDM, neonatal diabetes mellitus.