MCID: ADR051
MIFTS: 35

Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Adrenal Hyperplasia, Congenital, Due to Steroid...

MalaCards integrated aliases for Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency:

Name: Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 57
Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency 53 25 59 75 73
Deficiency of Steroid 11-Beta-Monooxygenase 25 29 6
11-Beta-Hydroxylase Deficiency 57 53 73
P450c11b1 Deficiency 57 53 25
Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 57 13
Cah Due to 11-Beta-Hydroxylase Deficiency 53 59
Steroid 11-Beta-Hydroxylase Deficiency 57 53
Adrenal Hyperplasia, Hypertensive Form 57 25
11 Beta Hydroxylase Deficiency 76 25
Adrenal Hyperplasia Iv 57 53
Adrenal Hyperplasia 4 53 75
Cyp11b1 Deficiency 53 59
Steroid 11-Beta-Monooxygenase Deficiency 40
Steroid 11 Beta Hydroxylase Deficiency 25
Adrenal Hyperplasia Hypertensive Form 53
Adrenal Hyperplasia Type Iv 75
11b Hydroxylase Deficiency 25
Ah-Iv 75
Ah4 75

Characteristics:

Orphanet epidemiological data:

59
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in neonatal period
incidence of 1 in 100,000 births in caucasians
incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals
accounts for 5 to 7% of all cases of congenital adrenal hyperplasia


HPO:

32
adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adrenal Hyperplasia, Congenital, Due to Steroid...

NIH Rare Diseases : 53 Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. Females with the classic form have ambiguous external genitalia with normal internal reproductive organs. Males and females with the classic form have early development of their secondary sexual characteristics (precocious puberty). The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life. Females with the non-classic form of 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth and irregular menstruation. Males with the non-classic form do not typically have any signs or symptoms except for short stature. High blood pressure is not a feature of the non-classic form.

MalaCards based summary : Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency, also known as congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, is related to lipoid congenital adrenal hyperplasia. An important gene associated with Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency is CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1). Affiliated tissues include adrenal gland, kidney and bone, and related phenotypes are hypertension and delayed skeletal maturation

OMIM : 57 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 gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991). (202010)

UniProtKB/Swiss-Prot : 75 Adrenal hyperplasia 4: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).

Genetics Home Reference : 25 Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.

Wikipedia : 76 Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal... more...

Related Diseases for Adrenal Hyperplasia, Congenital, Due to Steroid...

Diseases related to Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 10.1

Symptoms & Phenotypes for Adrenal Hyperplasia, Congenital, Due to Steroid...

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
hypokalemia
decreased renin
increased 11-deoxycorticosterone
increased 11-deoxycortisol
decreased aldosterone
more
Endocrine Features:
congenital adrenal hyperplasia
precocious puberty in males

Genitourinary External Genitalia Male:
small testes
large penis
virilization

Genitourinary Internal Genitalia Female:
rudimentary uterus and vagina

Skin Nails Hair Skin:
hyperpigmentation associated with increased adrenocorticotropic hormone (acth)

Growth Height:
short stature

Genitourinary Kidneys:
adrenal hyperplasia

Skeletal:
advanced bone age

Genitourinary External Genitalia Female:
ambiguous genitalia due to virilization
enlarged clitoris
penile urethra
fused labial-scrotal folds

Skeletal Limbs:
premature epiphyseal closure


Clinical features from OMIM:

202010

Human phenotypes related to Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
3 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
4 vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002013
5 hypokalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002900
6 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
7 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
8 hyperaldosteronism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000859
9 hyponatremia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002902
10 abnormality of the menstrual cycle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000140
11 stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0001297
12 gynecomastia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000771
13 long penis 59 32 frequent (33%) Frequent (79-30%) HP:0000040
14 enlarged polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0008675
15 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440
16 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
17 accelerated skeletal maturation 59 32 Very frequent (99-80%) HP:0005616
18 bilateral cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0008689
19 urogenital sinus anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0100779
20 renal salt wasting 59 32 hallmark (90%) Very frequent (99-80%) HP:0000127
21 abnormality of prenatal development or birth 59 32 frequent (33%) Frequent (79-30%) HP:0001197
22 hyperkalemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002153
23 decreased circulating aldosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0004319
24 increased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003154
25 hypernatriuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0012605
26 decreased circulating cortisol level 59 32 frequent (33%) Frequent (79-30%) HP:0008163
27 hypovolemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011106
28 adrenocorticotropic hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0011749
29 decreased fertility in females 59 32 frequent (33%) Frequent (79-30%) HP:0000868
30 decreased fertility in males 59 32 frequent (33%) Frequent (79-30%) HP:0012041
31 premature adrenarche 59 32 hallmark (90%) Very frequent (99-80%) HP:0012412
32 abnormal ekg 59 32 frequent (33%) Frequent (79-30%) HP:0003115
33 hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001007
34 ambiguous genitalia, female 59 32 frequent (33%) Frequent (79-30%) HP:0000061
35 fused labia minora 59 32 frequent (33%) Frequent (79-30%) HP:0000063
36 hypoplasia of the vagina 59 32 frequent (33%) Frequent (79-30%) HP:0008726
37 increased circulating androgen level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030348
38 decreased circulating renin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003351
39 hyperpigmented genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0030258
40 abnormality of the labia majora 59 32 occasional (7.5%) Occasional (29-5%) HP:0012881
41 accelerated bone age after puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0002805
42 adrenogenital syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000840
43 congenital adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008258
44 ectopic adrenal gland 59 32 frequent (33%) Frequent (79-30%) HP:0011742
45 hypervolemia 59 32 frequent (33%) Frequent (79-30%) HP:0011105
46 abnormal circulating aldosterone 59 32 frequent (33%) Frequent (79-30%) HP:0040085
47 abnormality of hair growth rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0011363
48 female sexual dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0030014
49 reduced bone mineral density 59 Very frequent (99-80%)
50 primary adrenal insufficiency 59 Occasional (29-5%)

Drugs & Therapeutics for Adrenal Hyperplasia, Congenital, Due to Steroid...

Search Clinical Trials , NIH Clinical Center for Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency

Genetic Tests for Adrenal Hyperplasia, Congenital, Due to Steroid...

Genetic tests related to Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Steroid 11-Beta-Monooxygenase 29 CYP11B1

Anatomical Context for Adrenal Hyperplasia, Congenital, Due to Steroid...

MalaCards organs/tissues related to Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency:

41
Adrenal Gland, Kidney, Bone, Ovary, Uterus, Skin, Testes

Publications for Adrenal Hyperplasia, Congenital, Due to Steroid...

Articles related to Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency:

# Title Authors Year
1
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations. ( 24022297 )
2013
2
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency with skeletal abnormalities. ( 8796341 )
1996
3
Growth and pubertal development in patients with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. ( 3875277 )
1985
4
No linkage between HLA and congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. ( 759866 )
1979
5
Gynaecomastia in two prepubertal boys with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. ( 457432 )
1979

Variations for Adrenal Hyperplasia, Congenital, Due to Steroid...

UniProtKB/Swiss-Prot genetic disease variations for Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency:

75 (show all 50)
# Symbol AA change Variation ID SNP ID
1 CYP11B1 p.Pro42Ser VAR_001260 rs104894069
2 CYP11B1 p.Asn133His VAR_001261 rs104894067
3 CYP11B1 p.Thr318Met VAR_001262 rs104894061
4 CYP11B1 p.Thr319Met VAR_001263 rs104894068
5 CYP11B1 p.Arg374Gln VAR_001264 rs104894062
6 CYP11B1 p.Arg448His VAR_001265 rs28934586
7 CYP11B1 p.Arg43Gln VAR_014146 rs4534
8 CYP11B1 p.Gly379Val VAR_065196
9 CYP11B1 p.Arg454Cys VAR_065197
10 CYP11B1 p.Pro94Leu VAR_065666 rs104894070
11 CYP11B1 p.Thr318Arg VAR_065667
12 CYP11B1 p.Pro42Leu VAR_074493 rs193922538
13 CYP11B1 p.Phe79Ile VAR_074494
14 CYP11B1 p.Leu83Ser VAR_074495
15 CYP11B1 p.Met88Ile VAR_074496 rs193922539
16 CYP11B1 p.Trp116Cys VAR_074497 rs772003869
17 CYP11B1 p.Trp116Gly VAR_074498 rs772733691
18 CYP11B1 p.His125Arg VAR_074499 rs757389720
19 CYP11B1 p.Val129Met VAR_074500
20 CYP11B1 p.Pro135Ser VAR_074501
21 CYP11B1 p.Phe139Leu VAR_074502
22 CYP11B1 p.Arg143Trp VAR_074503 rs140336749
23 CYP11B1 p.Ser150Leu VAR_074504 rs142484434
24 CYP11B1 p.Leu158Pro VAR_074505
25 CYP11B1 p.Pro159Leu VAR_074506 rs370266763
26 CYP11B1 p.Ala165Asp VAR_074508
27 CYP11B1 p.Thr196Ala VAR_074509
28 CYP11B1 p.Gly267Asp VAR_074511
29 CYP11B1 p.Leu299Pro VAR_074512 rs387907573
30 CYP11B1 p.Ala306Val VAR_074513 rs387907572
31 CYP11B1 p.Glu310Lys VAR_074514 rs387907574
32 CYP11B1 p.Gly314Arg VAR_074515
33 CYP11B1 p.Thr318Pro VAR_074516
34 CYP11B1 p.Phe321Val VAR_074517
35 CYP11B1 p.Ala331Val VAR_074518
36 CYP11B1 p.Arg332Gln VAR_074519 rs149881706
37 CYP11B1 p.Arg341Ser VAR_074520 rs372115638
38 CYP11B1 p.Arg366Cys VAR_074521 rs773245244
39 CYP11B1 p.Ala368Asp VAR_074522 rs104894071
40 CYP11B1 p.Glu371Gly VAR_074523 rs368944209
41 CYP11B1 p.Arg384Gly VAR_074524
42 CYP11B1 p.Arg384Gln VAR_074525 rs764598023
43 CYP11B1 p.Thr401Ala VAR_074526 rs201300785
44 CYP11B1 p.Arg427His VAR_074527 rs754432887
45 CYP11B1 p.Val441Gly VAR_074529 rs772169059
46 CYP11B1 p.Gly444Asp VAR_074530 rs779103938
47 CYP11B1 p.Arg448Cys VAR_074531
48 CYP11B1 p.Arg453Gln VAR_074532
49 CYP11B1 p.Leu489Ser VAR_074534 rs750428278
50 CYP11B1 p.Arg332Gly VAR_075554

ClinVar genetic disease variations for Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B1 NM_000497.3(CYP11B1): c.1343G> A (p.Arg448His) single nucleotide variant Pathogenic rs28934586 GRCh37 Chromosome 8, 143956428: 143956428
2 CYP11B1 NM_000497.3(CYP11B1): c.1343G> A (p.Arg448His) single nucleotide variant Pathogenic rs28934586 GRCh38 Chromosome 8, 142875012: 142875012
3 CYP11B1 NM_000497.3(CYP11B1): c.953C> T (p.Thr318Met) single nucleotide variant Pathogenic rs104894061 GRCh37 Chromosome 8, 143957658: 143957658
4 CYP11B1 NM_000497.3(CYP11B1): c.953C> T (p.Thr318Met) single nucleotide variant Pathogenic rs104894061 GRCh38 Chromosome 8, 142876242: 142876242
5 CYP11B1 NM_000497.3(CYP11B1): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic rs104894062 GRCh37 Chromosome 8, 143957128: 143957128
6 CYP11B1 NM_000497.3(CYP11B1): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic rs104894062 GRCh38 Chromosome 8, 142875712: 142875712
7 CYP11B1 CYP11B1, 2-BP INS insertion Pathogenic
8 CYP11B1 NM_000497.3(CYP11B1): c.347G> A (p.Trp116Ter) single nucleotide variant Pathogenic rs104894066 GRCh37 Chromosome 8, 143960496: 143960496
9 CYP11B1 NM_000497.3(CYP11B1): c.347G> A (p.Trp116Ter) single nucleotide variant Pathogenic rs104894066 GRCh38 Chromosome 8, 142879080: 142879080
10 CYP11B1 NM_000497.3(CYP11B1): c.397A> C (p.Asn133His) single nucleotide variant Pathogenic rs104894067 GRCh37 Chromosome 8, 143958637: 143958637
11 CYP11B1 NM_000497.3(CYP11B1): c.397A> C (p.Asn133His) single nucleotide variant Pathogenic rs104894067 GRCh38 Chromosome 8, 142877221: 142877221
12 CYP11B1 NM_000497.3(CYP11B1): c.956C> T (p.Thr319Met) single nucleotide variant Pathogenic rs104894068 GRCh37 Chromosome 8, 143957293: 143957293
13 CYP11B1 NM_000497.3(CYP11B1): c.956C> T (p.Thr319Met) single nucleotide variant Pathogenic rs104894068 GRCh38 Chromosome 8, 142875877: 142875877
14 CYP11B1 NM_000497.3(CYP11B1): c.124C> T (p.Pro42Ser) single nucleotide variant Pathogenic rs104894069 GRCh37 Chromosome 8, 143961106: 143961106
15 CYP11B1 NM_000497.3(CYP11B1): c.124C> T (p.Pro42Ser) single nucleotide variant Pathogenic rs104894069 GRCh38 Chromosome 8, 142879690: 142879690
16 CYP11B1 CYP11B1, 954G-A single nucleotide variant Pathogenic
17 CYP11B1 CYP11B1, IVS8, A-G, +4 single nucleotide variant Pathogenic
18 CYP11B1 CYP11B1, CYP11B1/CYP11B2 CHIMERA deletion Pathogenic
19 CYP11B1 CYP11B1, IVS3DS, G-T, +16 single nucleotide variant Pathogenic
20 CYP11B1 CYP11B1, CYP11B1/CYP11B2 CHIMERA deletion Pathogenic
21 CYP11B1 NM_000497.3(CYP11B1): c.1269T> G (p.Tyr423Ter) single nucleotide variant Pathogenic rs267606755 GRCh37 Chromosome 8, 143956502: 143956502
22 CYP11B1 NM_000497.3(CYP11B1): c.1269T> G (p.Tyr423Ter) single nucleotide variant Pathogenic rs267606755 GRCh38 Chromosome 8, 142875086: 142875086
23 CYP11B1 NM_000497.3(CYP11B1): c.281C> T (p.Pro94Leu) single nucleotide variant Pathogenic rs104894070 GRCh37 Chromosome 8, 143960562: 143960562
24 CYP11B1 NM_000497.3(CYP11B1): c.281C> T (p.Pro94Leu) single nucleotide variant Pathogenic rs104894070 GRCh38 Chromosome 8, 142879146: 142879146
25 CYP11B1 NM_000497.3(CYP11B1): c.1103C> A (p.Ala368Asp) single nucleotide variant Pathogenic rs104894071 GRCh37 Chromosome 8, 143957146: 143957146
26 CYP11B1 NM_000497.3(CYP11B1): c.1103C> A (p.Ala368Asp) single nucleotide variant Pathogenic rs104894071 GRCh38 Chromosome 8, 142875730: 142875730
27 CYP11B1 NM_000497.3(CYP11B1): c.1027G> A (p.Glu343Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 143957222: 143957222
28 CYP11B1 NM_000497.3(CYP11B1): c.1027G> A (p.Glu343Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 142875806: 142875806
29 CYP11B1 NM_000497.3(CYP11B1): c.446T> C (p.Leu149Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 143958588: 143958588
30 CYP11B1 NM_000497.3(CYP11B1): c.446T> C (p.Leu149Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 142877172: 142877172

Expression for Adrenal Hyperplasia, Congenital, Due to Steroid...

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Pathways for Adrenal Hyperplasia, Congenital, Due to Steroid...

GO Terms for Adrenal Hyperplasia, Congenital, Due to Steroid...

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