DONOHUE SYNDROME

Question 1

What is  DONOHUE SYNDROME?

Accepted Answer

very rare (w>m)
autosomal recessive
mutation in the insulin receptor gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Leprechaunismus; Donohue-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 246200

Question 4

Which enzymes are involved?

Accepted Answer

Insulin receptor

Disease	DONOHUE SYNDROME
Synonym	LEPRECHAUNISM
OMIM	246200 OMIM = Online Mendelian Inheritance of Men
Orphanet	508
Protein (UniProt)	Insulin receptor
Gene locus	19p13.12
ICD	E34.8
Summary	very rare (w>m) autosomal recessive mutation in the insulin receptor gene
Laboratory findings	D-Glucose inc (plasma) D-Glucose dec (plasma) Insulin inc (plasma)
Symptoms	cardiac involvement, cardiac defects cardiomyopathy cardiomyopathy, hypertrophic cholestasis cirrhosis or fibrosis of liver dwarfism dysmorphism early death failure to thrive growth retardation, poor growth hyperglycemia hyperinsulinism hyperkeratosis hypertrichosis hypoglycemia infections (severe or recurrent) onset, infancy onset, neonatal pancreatic insufficiency polycystic ovaries