Maturity-Onset Diabetes Of The Young, Type 6

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

Genes

INS, PDX1, HNF1A, GCK, NEUROD1, HNF4A, KCNJ11, PAX4, KLF11, BLK, HNF1B, CEL, APPL1, ABCC8, TGM2, MAFA, CERKL, TCF7, ADA, CRP, GAD1, INSR, HK1, PDHX, SLC2A1, GCG, GCKR, PLCG1, PSMD9, RFX6

INS, PDX1, HNF1A, GCK, NEUROD1, HNF4A, KCNJ11, PAX4, KLF11, BLK, HNF1B, CEL, APPL1, ABCC8, TGM2, MAFA, CERKL, TCF7, ADA, CRP, GAD1, INSR, HK1, PDHX, SLC2A1, GCG, GCKR, PLCG1, PSMD9, RFX6, GLP1R, APOM, FOXA2, NEUROG3, PPP1R3B, EBI3, EIF2AK3, FUBP1, SLC19A2, FANCD2, IL18R1, APRT, PASK, ECB2, TNDM, WFS1, ASIP, NR2F2, SACM1L, SLC30A10, APOC3, APOB, ZGLP1, GGTLC4P, GGT2, GGTLC3, GGTLC5P, ALB, SLC30A8, PTPN22, MED25, EHMT1, NEUROD4, FXYD2, RAB14, CYB5R4, ATM, SCT, BAD, KCNJ1, ISL1, CREBBP, IL6R, IAPP, ONECUT1, EGF, GPD1, GIP, GHRH, GGT1, FABP1, GATA6, FOLR2, FOLR1, FBP1, KCNC4, CD36, SERPINA7, LEPR, BRAF, SLC2A2, FBN2, MAP4K2, PTPRN, PSEN1, PRKG1, PPARA, PCK1, PCBD1, AKT2, NKX6-1, BRCA2, MTNR1B, MFAP1, LOC102723407

Drugs

—

Interested in hearing about new therapies?

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.

Molecular Genetics

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.

Pathogenesis

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.