Details of Disease

General Information of Disease (ID: DISADKR0)

Disease Name Maturity-onset diabetes of the young type 1
Synonyms
diabetes mellitus MODY type 1; MODY HNF4A related; maturity-onset diabetes of the young, type 1; MODY, type 1; type 1 maturity-onset diabetes of the young; mild juvenile diabetes mellitus; maturity onset diabetes of the Young, type 1; diabetes mellitus type 2; MODY, type I; MODY1; hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes; HNF4A-associated monogenic diabetes; MODY type 1
Definition Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.
Disease Hierarchy
DISG75M5: Maturity-onset diabetes of the young
DISADKR0: Maturity-onset diabetes of the young type 1
Disease Identifiers
MONDO ID
MONDO_0007452
MESH ID
C565101
UMLS CUI
C1852093
OMIM ID
125850
MedGen ID
377589
SNOMED CT ID
609562003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HNF4A TT2F3CD Definitive Autosomal dominant [1]
HNF4A TT2F3CD Definitive Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NR2F2 OTJFS67N Limited Genetic Variation [3]
HNF4A OTY1TOAB Definitive Autosomal dominant [1]
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References

1 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.
2 Dimerization defective MODY mutations of hepatocyte nuclear factor 4.Mutat Res. 2019 Mar;814:1-6. doi: 10.1016/j.mrfmmm.2019.01.002. Epub 2019 Jan 9.
3 Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4alpha (HNF4alpha) gene impair recruitment of p300, a key transcriptional co-activator.Mol Endocrinol. 2001 Jul;15(7):1200-10. doi: 10.1210/mend.15.7.0670.