Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
ADRENAL HYPERPLASIA IV
P450C11B1 DEFICIENCY
11-&#64
BETA-HYDROXYLASE DEFICIENCY
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
Number of Symptoms 32
OrphanetNr: 90795
OMIM Id: 202010
ICD-10: E25.0
UMLs: C0268292
MeSH: C535978
MedDRA: 10000002
Snomed: 124214007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 46,XX disorder of sex development induced by fetal androgens excess
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease
Congenital adrenal hyperplasia
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008726) Hypoplasia of the vagina 4 / 7739
2
 (HPO:0000040) Long penis 17 / 7739
3
 (HPO:0000061) Ambiguous genitalia, female 8 / 7739
4
 (HPO:0000057) Clitoromegaly 30 / 7739
5
 (HPO:0000079) Abnormality of the urinary system 88 / 7739
6
 (HPO:0000013) Hypoplasia of the uterus 21 / 7739
7
 (HPO:0008734) Decreased testicular size 105 / 7739
8
 (HPO:0008185) Precocious puberty in males 4 / 7739
9
 (HPO:0000840) Adrenogenital syndrome 6 / 7739
10
 (HPO:0008221) Adrenal hyperplasia 24 / 7739
11
 (HPO:0002924) Decreased circulating aldosterone level 7 / 7739
12
 (HPO:0008258) Congenital adrenal hyperplasia 3 / 7739
13
 (HPO:0003351) Decreased circulating renin level 8 / 7739
14
 (HPO:0005616) Accelerated skeletal maturation 46 / 7739
15
 (HPO:0004322) Short stature 1232 / 7739
16
 (HPO:0000953) Hyperpigmentation of the skin 75 / 7739
17
 (HPO:0000822) Hypertension 224 / 7739
18
 (HPO:0002900) Hypokalemia 45 / 7739
19
 (OMIM) Decreased cortisol 1 / 7739
20
 (OMIM) Rudimentary uterus and vagina 1 / 7739
21
 (OMIM) Hyperpigmentation associated with increased adrenocorticotropic hormone (ACTH) 1 / 7739
22
 (MedDRA:10002265) Androgens increased 1 / 7739
23
 (OMIM) Increased 11-deoxycortisol 1 / 7739
24
 (OMIM) ACTH increased 3 / 7739
25
 (MedDRA:10038557) Renin decreased 2 / 7739
26
 (OMIM) Virilization 2 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (HPO:0003623) Neonatal onset 22 / 7739
29
 (OMIM) Increased 11-deoxycorticosterone 1 / 7739
30
 (OMIM) Fused labial-scrotal folds 1 / 7739
31
 (OMIM) Premature epiphyseal closure 1 / 7739
32
 (OMIM) Penile urethra 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal ...
Diagnosis OMIM - Prenatal Diagnosis

Rosler et al. (1979) and Rosler et al. (1988) found that increased levels of tetrahydro-11-deoxycortisol in the amniotic fluid could be used for prenatal diagnosis of 11-beta-hydroxylase deficiency. The analysis of hormonal parameters ...
Clinical Description OMIM The nature of the defect in congenital adrenal hyperplasia associated with hypertension was first demonstrated by Eberlein and Bongiovanni (1956) on the basis of the accumulated steroids.

Glenthoj et al. (1980) diagnosed 11-beta-hydroxylase deficiency in 3 ...
Molecular genetics OMIM In affected individuals of Moroccan Jewish ancestry with CAH due to steroid 11-beta-hydroxylase deficiency, White et al. (1991) identified a homozygous mutation in the CYP11B1 gene (R448H: 610613.0001). Most of the patients had previously been reported by Rosler ...