MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (MODY14)

Question 1

What is  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (MODY14)?

Accepted Answer

rare

autosomal dominant

mutation in the APPL1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616511

Question 3

Which enzymes are involved?

Accepted Answer

DCC-interacting protein 13-alpha

Disease	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (MODY14)
Synonym	MODY14
OMIM	616511 OMIM = Online Mendelian Inheritance of Men
Orphanet	552
Protein (UniProt)	DCC-interacting protein 13-alpha
Gene locus	3p14.3
ICD
Summary	rare autosomal dominant mutation in the APPL1 gene
Laboratory findings	D-Glucose inc (plasma) HbA1c n/i (blood)
Symptoms	diabetes mellitus