Disease name
MODY 증후군
 MODY syndrome

Marker gene
Gene symbol Chromosome location Protein name
BLK 8p23.1 Tyrosine-protein kinase Blk
CEL 9q34.2 Bile salt-activated lipase
GCK 7p13 Glucokinase
HNF1A 12q24.31 Hepatocyte nuclear factor 1-alpha
HNF4A 20q13.12 Hepatocyte nuclear factor 4-alpha
INS 11p15.5 Insulin
KLF11 2p25.1 Krueppel-like factor 11
NEUROD1 2q31.3 Neurogenic differentiation factor 1
PAX4 7q32.1 Paired box protein Pax-4
PDX1 13q12.2 Pancreas/duodenum homeobox protein 1

Prevalence
미상

Inheritance
상염색체 우성

Age of onset
성인기

ICD 10 code
E11.8

MIM number
125850
125851
137920
600496
606391
606392
606394
609812
610508
612225
613370
613375

Synonym
Maturity Onset Diabetes of the Young

Summary
MODY (Maturity-Onset Diabetes of the Young) syndrome is a hereditary form of type 2 diabetes. It is transmitted as an autosomal dominant trait and manifests during childhood or early adulthood. To date, eight different forms of the syndrome have been described, among which MODY2 and MODY3 are the most frequent.