MCID: ADR043
MIFTS: 35

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

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

Aliases & Classifications for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

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

Name: Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 54 13
Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency 50 25 56 71 69
Deficiency of Steroid 11-Beta-Monooxygenase 25 29
Cah Due to 11-Beta-Hydroxylase Deficiency 50 56
11-Beta-Hydroxylase Deficiency 50 69
Adrenal Hyperplasia 4 50 71
P450c11b1 Deficiency 50 25
Cyp11b1 Deficiency 50 56
Steroid 11-Beta-Hydroxylase Deficiency 50
Adrenal Hyperplasia, Hypertensive Form 25
Steroid 11 Beta Hydroxylase Deficiency 25
Adrenal Hyperplasia Hypertensive Form 50
11 Beta Hydroxylase Deficiency 25
Adrenal Hyperplasia Type Iv 71
11b Hydroxylase Deficiency 25
Adrenal Hyperplasia Iv 50
Ah-Iv 71
Ah4 71

Characteristics:

Orphanet epidemiological data:

56
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

54
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 11-beta-hydroxylase deficiency:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

NIH Rare Diseases : 50 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. last updated: 5/16/2012

MalaCards based summary : Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency, also known as congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, is related to 11-beta-hydroxylase-deficient congenital adrenal hyperplasia and congenital adrenal hyperplasia, and has symptoms including short stature, hirsutism and osteoporosis. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency is CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1). Affiliated tissues include adrenal gland, kidney and bone.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

Related Diseases for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

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

id Related Disease Score Top Affiliating Genes
1 11-beta-hydroxylase-deficient congenital adrenal hyperplasia 12.2
2 congenital adrenal hyperplasia 10.5
3 hyperprolactinemia 10.0
4 gynecomastia 10.0
5 adrenal rest tumor 10.0

Graphical network of the top 20 diseases related to Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency:



Diseases related to Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency

Symptoms & Phenotypes for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Cardiovascular- Vascular:
hypertension

Skeletal:
advanced bone age

Genitourinary- Internal Genitalia Female:
rudimentary uterus and vagina

Skeletal- Limbs:
premature epiphyseal closure

Endocrine Features:
congenital adrenal hyperplasia
precocious puberty in males

Laboratory- Abnormalities:
hypokalemia
increased acth
increased 11-deoxycorticosterone
increased 11-deoxycortisol
decreased aldosterone
more
Genitourinary- External Genitalia Male:
small testes
virilization
large penis

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

Genitourinary- Kidneys:
adrenal hyperplasia

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


Clinical features from OMIM:

202010

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

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0001007
3 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
4 vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002013
5 renal salt wasting 56 32 hallmark (90%) Very frequent (99-80%) HP:0000127
6 hyperaldosteronism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000859
7 hypokalemia 56 32 frequent (33%) Frequent (79-30%) HP:0002900
8 hyponatremia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002902
9 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
10 feeding difficulties 56 32 occasional (7.5%) Occasional (29-5%) HP:0011968
11 stroke 56 32 occasional (7.5%) Occasional (29-5%) HP:0001297
12 hyperkalemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002153
13 aortic root dilatation 56 32 frequent (33%) Frequent (79-30%) HP:0002616
14 tall stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0000098
15 gynecomastia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000771
16 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
17 fused labia minora 56 32 frequent (33%) Frequent (79-30%) HP:0000063
18 adrenogenital syndrome 56 32 hallmark (90%) Very frequent (99-80%) HP:0000840
19 congenital adrenal hyperplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008258
20 accelerated bone age after puberty 56 32 hallmark (90%) Very frequent (99-80%) HP:0002805
21 abnormal ekg 56 32 frequent (33%) Frequent (79-30%) HP:0003115
22 decreased fertility in females 56 32 frequent (33%) Frequent (79-30%) HP:0000868
23 bilateral cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0008689
24 enlarged polycystic ovaries 56 32 hallmark (90%) Very frequent (99-80%) HP:0008675
25 premature adrenarche 56 32 hallmark (90%) Very frequent (99-80%) HP:0012412
26 abnormality of the menstrual cycle 56 32 hallmark (90%) Very frequent (99-80%) HP:0000140
27 long penis 56 32 frequent (33%) Frequent (79-30%) HP:0000040
28 generalized hyperpigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007440
29 accelerated skeletal maturation 56 32 Very frequent (99-80%) HP:0005616
30 urogenital sinus anomaly 56 32 frequent (33%) Frequent (79-30%) HP:0100779
31 abnormality of prenatal development or birth 56 32 frequent (33%) Frequent (79-30%) HP:0001197
32 decreased circulating aldosterone level 56 32 hallmark (90%) Very frequent (99-80%) HP:0004319
33 increased circulating acth level 56 32 hallmark (90%) Very frequent (99-80%) HP:0003154
34 hypernatriuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0012605
35 decreased circulating cortisol level 56 32 frequent (33%) Frequent (79-30%) HP:0008163
36 hypovolemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011106
37 adrenocorticotropic hormone excess 56 32 hallmark (90%) Very frequent (99-80%) HP:0011749
38 decreased fertility in males 56 32 frequent (33%) Frequent (79-30%) HP:0012041
39 ambiguous genitalia, female 56 32 frequent (33%) Frequent (79-30%) HP:0000061
40 hypoplasia of the vagina 56 32 frequent (33%) Frequent (79-30%) HP:0008726
41 increased circulating androgen level 56 32 hallmark (90%) Very frequent (99-80%) HP:0030348
42 decreased circulating renin level 56 32 hallmark (90%) Very frequent (99-80%) HP:0003351
43 hyperpigmented genitalia 56 32 frequent (33%) Frequent (79-30%) HP:0030258
44 abnormality of the labia majora 56 32 occasional (7.5%) Occasional (29-5%) HP:0012881
45 ectopic adrenal gland 56 32 frequent (33%) Frequent (79-30%) HP:0011742
46 hypervolemia 56 32 frequent (33%) Frequent (79-30%) HP:0011105
47 abnormal circulating aldosterone 56 32 frequent (33%) Frequent (79-30%) HP:0040085
48 abnormality of hair growth rate 56 32 hallmark (90%) Very frequent (99-80%) HP:0011363
49 female sexual dysfunction 56 32 frequent (33%) Frequent (79-30%) HP:0030014
50 ambiguous genitalia 56 Frequent (79-30%)

Drugs & Therapeutics for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

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

Genetic Tests for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

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

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

Anatomical Context for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

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

39
Adrenal Gland, Kidney, Bone, Ovary, Uterus, Testes, Skin

Publications for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

Variations for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

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

71 (show all 50)
id 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 11-Beta-Hydroxylase Deficiency:

6 (show all 16)
id 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.953C> T (p.Thr318Met) single nucleotide variant Pathogenic rs104894061 GRCh37 Chromosome 8, 143957658: 143957658
3 CYP11B1 NM_000497.3(CYP11B1): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic rs104894062 GRCh37 Chromosome 8, 143957128: 143957128
4 CYP11B1 CYP11B1, 2-BP INS insertion Pathogenic
5 CYP11B1 NM_000497.3(CYP11B1): c.347G> A (p.Trp116Ter) single nucleotide variant Pathogenic rs104894066 GRCh37 Chromosome 8, 143960496: 143960496
6 CYP11B1 NM_000497.3(CYP11B1): c.397A> C (p.Asn133His) single nucleotide variant Pathogenic rs104894067 GRCh37 Chromosome 8, 143958637: 143958637
7 CYP11B1 NM_000497.3(CYP11B1): c.956C> T (p.Thr319Met) single nucleotide variant Pathogenic rs104894068 GRCh37 Chromosome 8, 143957293: 143957293
8 CYP11B1 NM_000497.3(CYP11B1): c.124C> T (p.Pro42Ser) single nucleotide variant Pathogenic rs104894069 GRCh37 Chromosome 8, 143961106: 143961106
9 CYP11B1 CYP11B1, 954G-A single nucleotide variant Pathogenic
10 CYP11B1 CYP11B1, IVS8, A-G, +4 single nucleotide variant Pathogenic
11 CYP11B1 CYP11B1, CYP11B1/CYP11B2 CHIMERA deletion Pathogenic
12 CYP11B1 CYP11B1, IVS3DS, G-T, +16 single nucleotide variant Pathogenic
13 CYP11B1 CYP11B1, CYP11B1/CYP11B2 CHIMERA deletion Pathogenic
14 CYP11B1 NM_000497.3(CYP11B1): c.1269T> G (p.Tyr423Ter) single nucleotide variant Pathogenic rs267606755 GRCh37 Chromosome 8, 143956502: 143956502
15 CYP11B1 NM_000497.3(CYP11B1): c.281C> T (p.Pro94Leu) single nucleotide variant Pathogenic rs104894070 GRCh37 Chromosome 8, 143960562: 143960562
16 CYP11B1 NM_000497.3(CYP11B1): c.1103C> A (p.Ala368Asp) single nucleotide variant Pathogenic rs104894071 GRCh37 Chromosome 8, 143957146: 143957146

Expression for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

Search GEO for disease gene expression data for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency.

Pathways for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

GO Terms for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

Sources for Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase...

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