FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4

Question 1

What is  FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4?

Accepted Answer

rare
autosomal dominant
mutation in the HNF4A gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Renale Zysten und Diabetes-Syndrom; Nierendysfunktion - früh einsetzender Diabetes;  MODY-Syndrom Typ 5

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616026

Question 4

Which enzymes are involved?

Accepted Answer

Hepatocyte nuclear factor 4-alpha

Disease	FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4
Synonym	FRTS4 WITH MODY
OMIM	616026 OMIM = Online Mendelian Inheritance of Men
Orphanet	93111
Protein (UniProt)	Hepatocyte nuclear factor 4-alpha
Gene locus	20q13.12
ICD	E11.2
Summary	rare autosomal dominant mutation in the HNF4A gene
Laboratory findings	D-Glucose dec (plasma)
Symptoms	aminoaciduria diabetes mellitus glucosuria hepatomegaly (large liver) high birthweight (large for gestational age) hyperinsulinism hypoglycemia hypoketotic hypoglycemia macrosomia metabolic acidosis nephrocalcinosis onset, childhood onset, infancy onset, neonatal renal dysfunction, renal defects rickets short stature