Details of Disease

General Information of Disease (ID: DISMFSO5)

• Disease Name: Maturity-onset diabetes of the young type 3
• Synonyms: MODY hepatocyte nuclear factor-1-alpha related; maturity-onset diabetes of the young, type 3; diabetes mellitus MODY type 3; MODY, type 3; type 3 maturity-onset diabetes of the young; MODY, type III; HNF1A maturity-onset diabetes of the young (disease); HNF1A-associated monogenic diabetes; maturity-onset diabetes of the young (disease) caused by mutation in HNF1A; MODY type 3; hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes; MODY3; maturity-onset diabetes of the young type 3
• Definition: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.
• Disease Hierarchy:
  DISG75M5: Maturity-onset diabetes of the young
  DISMFSO5: Maturity-onset diabetes of the young type 3
• Disease Identifiers:
  MONDO ID: MONDO_0010894
  MESH ID: C563933
  UMLS CUI: C1838100
  OMIM ID: 600496
  MedGen ID: 324942
  SNOMED CT ID: 609570008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GCK	TTDLNGZ	Strong	Biomarker	[1]
HNF1A	TT01M3K	Strong	Autosomal dominant	[2]
HNF4A	TT2F3CD	Strong	Biomarker	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APOM	OTI3FQQC	moderate	Altered Expression	[4]
HNF1A	OT9DOUKL	Strong	Autosomal dominant	[2]
TCF7	OT1ID822	Strong	Biomarker	[5]

References

• [1] Incretin effect and glucagon responses to oral and intravenous glucose in patients with maturity-onset diabetes of the young--type 2 and type 3.Diabetes. 2014 Aug;63(8):2838-44. doi: 10.2337/db13-1878. Epub 2014 Mar 27.
• [2] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [3] Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.Eur J Endocrinol. 2011 Apr;164(4):513-20. doi: 10.1530/EJE-10-0842. Epub 2011 Jan 11.
• [4] Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels.Diabetes. 2003 Dec;52(12):2989-95. doi: 10.2337/diabetes.52.12.2989.
• [5] Familial liver adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation.Gastroenterology. 2003 Nov;125(5):1470-5. doi: 10.1016/j.gastro.2003.07.012.