MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5 (MODY5, RCAD)

Question 1

What is  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5 (MODY5, RCAD)?

Accepted Answer

rare
autosomal dominant

mutation in the hepatocyte nuclear factor-1-beta 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 5;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 137920

Question 4

Which enzymes are involved?

Accepted Answer

Hepatocyte nuclear factor 1-beta

Disease	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5 (MODY5, RCAD)
Synonym	MODY 5; RENAL CYSTS AND DIABETES SYNDROME; RCAD
OMIM	137920 OMIM = Online Mendelian Inheritance of Men
Orphanet	93111
Protein (UniProt)	Hepatocyte nuclear factor 1-beta
Gene locus	17q12
ICD	E11.2
Summary	rare autosomal dominant mutation in the hepatocyte nuclear factor-1-beta 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	Creatinine inc (serum) D-Glucose inc (serum) Protein inc (urine) Uric acid inc (serum)
Symptoms	diabetes mellitus Glucose tolerance, impaired glucosuria gout hypospadia liver involvement or dysfunction multicystic dysplastic kidneys onset, adolescent onset, childhood onset, fetus onset, infancy onset, neonatal onset, variable age pancreatic dysfunction, exocrine proteinuria renal cysts renal dysfunction, renal defects renal failure, acute/chronic