MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, (MODY 8) WITH EXOCRINE DYSFUNCTION

Question 1

What is  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, (MODY 8) WITH EXOCRINE DYSFUNCTION?

Accepted Answer

rare
autosomal dominant
mutation in the carboxyl-ester lipase gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

MODY [Maturity onset diabetes of young people] Typ 8;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609812

Question 4

Which enzymes are involved?

Accepted Answer

Bile salt-activated lipase

Disease	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, (MODY 8) WITH EXOCRINE DYSFUNCTION
Synonym	MODY8
OMIM	609812 OMIM = Online Mendelian Inheritance of Men
Orphanet	552
Protein (UniProt)	Bile salt-activated lipase
Gene locus	9q34.13
ICD	E11.9_
Summary	rare autosomal dominant mutation in the carboxyl-ester lipase gene
Laboratory findings	Elastase dec (fecal)
Symptoms	diabetes mellitus onset, adulthood pain, abdominal pancreatic dysfunction, exocrine