APPARENT MINERALOCORTICOID EXCESS (AME)

Question 1

What is  APPARENT MINERALOCORTICOID EXCESS (AME)?

Accepted Answer

rare
autosomal recessive
mutation in the HSD11B2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

11-beta-Hydroxysteroid-Dehydrogenase-Mangel Typ 2; Nebennierenrindenüberfunktion

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 218030

Question 4

Which enzymes are involved?

Accepted Answer

Corticosteroid 11-beta-dehydrogenase isozyme 2

Disease	APPARENT MINERALOCORTICOID EXCESS (AME)
Synonym	11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY, TYPE II; HSD11B2
OMIM	218030 OMIM = Online Mendelian Inheritance of Men
Orphanet	320
Protein (UniProt)	Corticosteroid 11-beta-dehydrogenase isozyme 2
ExPASy	1.1.1.B40
Gene locus	16q22.1 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Hydroxysteroid (11-beta) dehydrogenase 2
ICD	E26.1
Summary	rare autosomal recessive mutation in the HSD11B2 gene
Laboratory findings	Aldosterone dec (serum) Cortisol/cortisone ratio (urine) Potassium dec (serum) Renin activity (PRA) or renin dec (plasma) Tetrahydrocortisol inc (urine) Tetrahydrocortisone dec (urine)
Symptoms	failure to thrive headache (severe, recurrent or occipital, migraine) hypertension metabolic alkalosis onset, childhood onset, infancy short stature small for gestational age (SGA), intrauterine growth retardation (IUGR)