11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1)

Question 1

What is  11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1)?

Accepted Answer

rare (1:100000)
autosomal recessive

mutation in the CYP11B1 gene

few reports on non-classical 11OHD because of its mild symptoms [Wang D et al. 2018]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Nebennierenhyperplasie, kongenitale, durch 11-beta-Hydroxylase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 202010

Question 4

Which enzymes are involved?

Accepted Answer

Cytochrome P450 11B1, mitochondrial

Disease	11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1)
Synonym	ADRENAL HYPERPLASIA VI; STEROID 11 BETA-HYDROXYLASE DEFICIENCY
OMIM	202010 OMIM = Online Mendelian Inheritance of Men
Orphanet	90795
Protein (UniProt)	Cytochrome P450 11B1, mitochondrial
ExPASy	1.14.15.4
Gene locus	8q24.3
ICD	E25.08
Summary	rare (1:100000) autosomal recessive mutation in the CYP11B1 gene few reports on non-classical 11OHD because of its mild symptoms [Wang D et al. 2018]
Laboratory findings	11-Deoxycortisol inc (serum) Adrenocorticotropic hormone (ACTH) inc (plasma) Deoxycorticosterone (DOC) inc (plasma) Potassium dec (serum) Sodium inc (serum) Steroid 11-beta-hydroxylase dec (fibroblasts) Tetrahydro-11-deoxycorticosterone inc (urine) Tetrahydro-11-deoxycortisol inc (urine)
Symptoms	episodic course (clinical symptoms) failure to thrive genitalia, ambigous growth retardation, poor growth gynecomastia hirsutism hypertension hypokalemia masculinisation of the female onset, infancy onset, neonatal renal failure, acute/chronic virilisation