CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2

Question 1

What is  CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2?

Accepted Answer

rare
autosomal dominant
mutation in the HSD11B1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperandrogenismus durch Cortison-Reduktase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614662

Question 4

Which enzymes are involved?

Accepted Answer

Corticosteroid 11-beta-dehydrogenase isozyme 1

Disease	CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2
Synonym	11-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1
OMIM	614662 OMIM = Online Mendelian Inheritance of Men
Orphanet	168588
Protein (UniProt)	Corticosteroid 11-beta-dehydrogenase isozyme 1
ExPASy	1.1.1.146
Gene locus	1q32.2
ICD	E25.8
Summary	rare autosomal dominant mutation in the HSD11B1 gene
Laboratory findings	Adrenal androgens (DHEAS, androstenedione) inc (plasma) Adrenocorticotropic hormone (ACTH) inc (plasma)
Symptoms	polycystic ovaries virilisation adrenal hyperplasia premature pubarche acanthosis nigrans bone age, advanced obesity onset, childhood puberty, precocious