Alternative titles; symbols
SNOMEDCT: 609573005; ORPHA: 552; DO: 0111104;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 2q31.3 | Maturity-onset diabetes of the young 6 | 606394 | 3 | NEUROD1 | 601724 |
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young type 6 (MODY6) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q31.
For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.
In a family reported by Malecki et al. (1999), members with mutations in the NEUROD1 gene met the diagnostic criteria for MODY including an autosomal pattern of inheritance, onset of diabetes before 25 years of age in 3 carriers, and a requirement for insulin treatment in 5 carriers; see 601724.0002.
In a review of the various forms of MODY, Fajans et al. (2001) suggested that the molecular basis of MODY6 is abnormal transcription/regulation of beta cell development and function.
Fajans, S. S., Bell, G. I., Polonsky, K. S. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. New Eng. J. Med. 345: 971-980, 2001. [PubMed: 11575290] [Full Text: https://doi.org/10.1056/NEJMra002168]
Malecki, M. T., Jhala, U. S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M., Warram, J. H., Montminy, M., Krolewski, A. S. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nature Genet. 23: 323-328, 1999. [PubMed: 10545951] [Full Text: https://doi.org/10.1038/15500]