CONGENITAL HYPERINSULINISM AND HYPOPITUITARISM (NEW DISEASE?)

Question 1

What is  CONGENITAL HYPERINSULINISM AND HYPOPITUITARISM (NEW DISEASE?)?

Accepted Answer

very rare

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 600288

Question 3

Which enzymes are involved?

Accepted Answer

Hepatocyte nuclear factor 3-beta?

Disease	CONGENITAL HYPERINSULINISM AND HYPOPITUITARISM (NEW DISEASE?)
Synonym	CONGENITAL HYPERINSULINISM AND HYPOPITUITARISM
OMIM	600288 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Hepatocyte nuclear factor 3-beta?
ExPASy	---
Gene locus	---
ICD	---
Summary	very rare
Laboratory findings	D-Glucose dec (plasma)
Symptoms	cleft eyelid (coloboma) coarse facial features developmental delay hyperinsulinism hypertelorism hypoglycemia hypoketotic hypoglycemia hypopituitarism onset, infancy onset, neonatal pulmonary valve, stenosis