MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (MODY3)

Question 1

What is  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (MODY3)?

Accepted Answer

rare
autosomal dominant
mutation in the hepatocyte nuclear factor-1-alpha gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

MODY [Maturity onset diabetes of young people] Typ 3;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 600496

Question 4

Which enzymes are involved?

Accepted Answer

Hepatocyte nuclear factor 1-alpha

Disease	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (MODY3)
Synonym	MODY, TYPE 3
OMIM	600496 OMIM = Online Mendelian Inheritance of Men
Orphanet	552
Protein (UniProt)	Hepatocyte nuclear factor 1-alpha
Gene locus	12q24.31
ICD	E11.9_
Summary	rare autosomal dominant mutation in the hepatocyte nuclear factor-1-alpha gene
Laboratory findings	D-Glucose inc (blood)
Symptoms	diabetes mellitus hyperglycemia liver involvement or dysfunction onset, adolescent onset, childhood