MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (MODY6)

Question 1

What is  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (MODY6)?

Accepted Answer

very rare

mutation in the NEUROD1 gene

14 responsible genes are reported to be MODY type 1~14, of which MODY 2 and 3 might be the most common forms [Horikawa Y 2018]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

MODY [Maturity onset diabetes of young people] Typ 6;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 606394

Question 4

Which enzymes are involved?

Accepted Answer

Neurogenic differentiation factor 1

Disease	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (MODY6)
Synonym	MODY6
OMIM	606394 OMIM = Online Mendelian Inheritance of Men
Orphanet	552
Protein (UniProt)	Neurogenic differentiation factor 1
Gene locus	2q31.3
ICD	E11.9_
Summary	very rare mutation in the NEUROD1 gene 14 responsible genes are reported to be MODY type 1~14, of which MODY 2 and 3 might be the most common forms [Horikawa Y 2018]
Laboratory findings	D-Glucose inc (plasma)
Symptoms	diabetes mellitus hyperglycemia intellectual disability/intellectual developmental disorder ketosis, ketoacidosis onset, adolescent onset, childhood