Details of Disease

General Information of Disease (ID: DISANGXI)

Disease Name Maturity-onset diabetes of the young type 6
Synonyms
MODY NEUROD1 related; diabetes mellitus MODY type 6; type 6 maturity-onset diabetes of the young; MODY, type 6; maturity-onset diabetes of the young, type 6; MODY6; maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1; NEUROD1 maturity-onset diabetes of the young (disease); MODY type 6; maturity onset diabetes of the Young, type 6; maturity-onset diabetes of the young 6; NEUROD1-associated monogenic diabetes; neurogenic differentiation Factor 1-associated monogenic diabetes
Definition
Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.
Disease Hierarchy
DISG75M5: Maturity-onset diabetes of the young
DISANGXI: Maturity-onset diabetes of the young type 6
Disease Identifiers
MONDO ID
MONDO_0011668
MESH ID
C565231
UMLS CUI
C1853371
OMIM ID
606394
MedGen ID
344030
SNOMED CT ID
609573005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEUROD1 OTZQ7QJ2 Strong Autosomal recessive [1]
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References

1 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.