Table 2.

Syndromic forms of diabetes that may present in childhood or early adulthood

Syndrome	Gene (locus)	Inheritance	Type of diabetes	Clinical features	OMIMa
Diabetes and deafness	Mitochondria tRNA	Maternal	Insulin deficient	Adult-onset diabetes, sensorineural deafness	590050
Wolfram syndrome 1	WFS1 (4p16)	AR/AD	Insulin deficient	Childhood-onset diabetes, optic atrophy, deafness, diabetes insipidus	600424, 606201
Wolfram syndrome 2	CISD2 (4q24)	AR	Insulin deficient	Childhood-onset, diabetes, optic atrophy deafness, and defective platelet aggregation	604928, 611507
Thiamine-responsive megaloblastic anemia syndrome	SLC19A2 (1q23)	AR	Vitamin dependent	Childhood-onset diabetes, megaloblastic or sideroblastic anemia, sensorineural deafness	249270, 600424
Mitchell-Riley syndrome	RFX6 (6q22)	AR	Insulin deficient	Rare cases with childhood-onset, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia	615710, 612659
Alström syndrome	ALMS1 (2p13)	AR	Insulin resistant	Childhood-early adulthood, pigmentary retinopathy, deafness, obesity, dilated cardiomyopathy	203800, 606844
Bardet-Biedl Syndrome	BBS1–BBS21	AR/DR	Insulin resistant	Childhood–early adulthood, developmental delay, pigmentary retinopathy, polydactyly, obesity, hypogonadism	209900
Insulin resistance syndrome Type A	INSR (19p13)	AD/AR	Insulin resistant	Childhood-early adulthood, obesity, diabetes, and acanthosis nigricans	610549, 147670

ALMS1 Alström syndrome 1, AD autosomal dominant, AR autosomal recessive, BBS Bardet-Biedl, CISD2, CDGSH iron sulfur domain 2, DR digenic recessive, INSR insulin receptor, RFX6 regulatory factor X 6, SLC19A2 solute carrier family 19 member 2, tRNA transfer RNA, WFS1 wolframin

^aThe Online Mendelian Inheritance in Man (OMIM; http://omim.org) numbers indicate the descriptive entry of the phenotype and/or gene