Details of Disease

General Information of Disease (ID: DISN6STS)

Disease Name Maturity-onset diabetes of the young type 2
Synonyms
type 2 maturity-onset diabetes of the young; maturity-onset diabetes of the young, type 2; MODY, glucokinase-related; diabetes mellitus MODY type 2; MODY, type 2; maturity-onset diabetes of the young (disease) caused by mutation in GCK; maturity onset diabetes of the Young, type 2; GCK maturity-onset diabetes of the young (disease); MODY2; MODY, type II; GCK-associated diabetes mellitus; glucokinase-associated diabetes mellitus; MODY glucokinase-related; MODY type 2; MODY 2 monogenic diabetes type 2
Definition
Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.
Disease Hierarchy
DISG75M5: Maturity-onset diabetes of the young
DISN6STS: Maturity-onset diabetes of the young type 2
Disease Identifiers
MONDO ID
MONDO_0007453
MESH ID
C564219
UMLS CUI
C0342277
OMIM ID
125851
MedGen ID
87434
SNOMED CT ID
237604008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ABCC8 TTP835K Strong Biomarker [1]
GCK TTDLNGZ Strong Genetic Variation [2]
HNF4A TT2F3CD Strong Biomarker [3]
GCK TTDLNGZ Definitive Autosomal dominant [4]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GCKR OTSIWXGG Limited Biomarker [5]
GCK OTR3Q0NN Definitive Autosomal dominant [4]
------------------------------------------------------------------------------------

References

1 Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion.J Biol Chem. 2000 Mar 31;275(13):9270-7. doi: 10.1074/jbc.275.13.9270.
2 Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.J Diabetes Investig. 2019 Jul;10(4):963-971. doi: 10.1111/jdi.13001. Epub 2019 Feb 1.
3 Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2).Diabetes. 2019 Aug;68(8):1565-1576. doi: 10.2337/db19-0324. Epub 2019 May 15.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.Diabetes. 2006 Jun;55(6):1713-22. doi: 10.2337/db05-1513.