AH4
MCID: ADR051
MIFTS: 43

Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency (AH4)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 20 43 58 72 70
Deficiency of Steroid 11-Beta-Monooxygenase 43 29 6
11-Beta-Hydroxylase Deficiency 57 20 70
P450c11b1 Deficiency 57 20 43
Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 57 13
Cah Due to 11-Beta-Hydroxylase Deficiency 20 58
Steroid 11-Beta-Hydroxylase Deficiency 57 20
Adrenal Hyperplasia, Hypertensive Form 57 43
11 Beta Hydroxylase Deficiency 73 43
Adrenal Hyperplasia Iv 57 20
Adrenal Hyperplasia 4 20 72
Cyp11b1 Deficiency 20 58
Steroid 11-Beta-Monooxygenase Deficiency 39
Steroid 11 Beta Hydroxylase Deficiency 43
Adrenal Hyperplasia Hypertensive Form 20
Adrenal Hyperplasia Type Iv 72
11b Hydroxylase Deficiency 43
Ah-Iv 72
Ah4 72

Characteristics:

Orphanet epidemiological data:

58
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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

MedlinePlus Genetics : 43 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.There are two types of CAH due to 11-beta-hydroxylase deficiency, the classic form and the non-classic form. The classic form is the more severe of the two types.Females with the classic form of CAH due to 11-beta-hydroxylase deficiency have external genitalia that do not look clearly male or female (atypical genitalia). However, the internal reproductive organs develop normally. Males and females with the classic form of this condition have early development of their secondary sexual characteristics such as growth of facial and pubic hair, deepening of the voice, appearance of acne, and onset of a growth spurt. The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. In addition, approximately two-thirds of individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood pressure (hypertension). Hypertension typically develops within the first year of life.Females with the non-classic form of CAH due to 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth (hirsutism) and irregular menstruation. Males with the non-classic form of this condition do not typically have any signs or symptoms except for short stature. Hypertension is not a feature of the non-classic form of CAH due to 11-beta-hydroxylase deficiency.

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 and hyperaldosteronism, familial, type i. 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, bone and uterus, and related phenotypes are delayed skeletal maturation and osteoporosis

GARD : 20 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.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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).

Wikipedia : 73 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:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 30.1 LOC106799833 CYP11B1
2 hyperaldosteronism, familial, type i 29.3 LOC106799833 CYP11B1
3 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.5
4 adrenogenital syndrome 10.4
5 infant gynecomastia 10.4
6 gynecomastia 10.4
7 hypokalemia 10.4
8 hyperandrogenism 10.3
9 autosomal recessive disease 10.3
10 precocious puberty 10.3
11 cryptorchidism, unilateral or bilateral 10.2
12 familial glucocorticoid deficiency 10.2
13 acne 10.2
14 adrenal adenoma 10.2
15 adenoma 10.2
16 urinary tract infection 10.1
17 adrenocortical carcinoma, hereditary 10.0
18 intracranial hypertension, idiopathic 10.0
19 yemenite deaf-blind hypopigmentation syndrome 10.0
20 hyperprolactinemia 10.0
21 adrenal cortical carcinoma 10.0
22 disease by infectious agent 10.0
23 secretory diarrhea 10.0
24 adrenal cortical adenoma 10.0
25 malignant hypertension 10.0
26 polycystic ovary syndrome 10.0
27 nephrocalcinosis 10.0
28 facial paralysis 10.0
29 amenorrhea 10.0
30 adrenal rest tumor 10.0
31 gastroenteritis 10.0
32 pseudohermaphroditism 10.0
33 adrenal cortical adenocarcinoma 10.0
34 intracranial hypertension 10.0
35 acute adrenal insufficiency 10.0
36 primary adrenal insufficiency 10.0
37 familial hyperaldosteronism 9.6 LOC106799833 CYP11B1

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



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

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

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

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
3 hyperaldosteronism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000859
4 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
5 enlarged polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0008675
6 premature adrenarche 58 31 hallmark (90%) Very frequent (99-80%) HP:0012412
7 hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001007
8 irregular menstruation 58 31 hallmark (90%) Very frequent (99-80%) HP:0000858
9 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
10 congenital adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008258
11 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
12 decreased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003351
13 adrenocorticotropic hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0011749
14 accelerated bone age after puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0002805
15 renal salt wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000127
16 adrenogenital syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000840
17 abnormality of hair growth rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0011363
18 increased circulating androgen level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030348
19 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
20 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
21 hypokalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002900
22 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
23 urogenital sinus anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0100779
24 long penis 58 31 frequent (33%) Frequent (79-30%) HP:0000040
25 aortic root aneurysm 58 31 frequent (33%) Frequent (79-30%) HP:0002616
26 decreased fertility in males 58 31 frequent (33%) Frequent (79-30%) HP:0012041
27 hypoplasia of the vagina 58 31 frequent (33%) Frequent (79-30%) HP:0008726
28 decreased fertility in females 58 31 frequent (33%) Frequent (79-30%) HP:0000868
29 ambiguous genitalia, female 58 31 frequent (33%) Frequent (79-30%) HP:0000061
30 fused labia minora 58 31 frequent (33%) Frequent (79-30%) HP:0000063
31 abnormality of prenatal development or birth 58 31 frequent (33%) Frequent (79-30%) HP:0001197
32 hyperpigmented genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0030258
33 abnormal ekg 58 31 frequent (33%) Frequent (79-30%) HP:0003115
34 decreased circulating cortisol level 58 31 frequent (33%) Frequent (79-30%) HP:0008163
35 hypervolemia 58 31 frequent (33%) Frequent (79-30%) HP:0011105
36 abnormal circulating aldosterone 58 31 frequent (33%) Frequent (79-30%) HP:0040085
37 ectopic adrenal gland 58 31 frequent (33%) Frequent (79-30%) HP:0011742
38 female sexual dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0030014
39 clitoral hypertrophy 31 frequent (33%) HP:0008665
40 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
41 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
42 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
43 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
44 hyperkalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002153
45 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
46 bilateral cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0008689
47 hypovolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011106
48 hypernatriuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012605
49 abnormal labia majora morphology 31 occasional (7.5%) HP:0012881
50 accelerated skeletal maturation 58 31 Very frequent (99-80%) HP:0005616

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
hypokalemia
increased 11-deoxycorticosterone
increased 11-deoxycortisol
decreased aldosterone
decreased renin
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 (Updated 05-Apr-2021)

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:

40
Adrenal Gland, Bone, Uterus, Testes, Cortex, Adrenal Cortex

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

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

(show top 50) (show all 82)
# Title Authors PMID Year
1
CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61 6 57
8768848 1996
2
Clinical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61 6 57
7049883 1982
3
Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. 57 6
1430088 1992
4
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. 6 57
2022736 1991
5
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations. 6 61
24022297 2014
6
Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase). 6 61
15324322 2004
7
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency in Saudi Arabia: clinical and biochemical characteristics. 57 61
7670248 1995
8
Growth and pubertal development in patients with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. 57 61
3875277 1985
9
New studies of the 11 beta-hydroxylase and 18-hydroxylase enzymes in the hypertensive form of congenital adrenal hyperplasia. 61 57
6243663 1980
10
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency: final diagnosis in adult age in three patients. 61 57
7355668 1980
11
No linkage between HLA and congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. 61 57
759866 1979
12
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. 6
28228528 2017
13
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency. 6
26956189 2017
14
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient. 6
26280318 2016
15
Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene. 6
26476331 2016
16
Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency. 6
26053152 2015
17
Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia. 6
26066897 2015
18
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency. 6
25911436 2015
19
A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy. 6
26265915 2015
20
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency. 6
24536089 2014
21
Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 β -Hydroxylase Deficiency. 6
24987415 2014
22
A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism. 6
23940125 2013
23
New genetic abnormalities in non-21α-hydroxylase-deficiency congenital adrenal hyperplasia. 6
24334966 2013
24
A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency. 6
22964742 2013
25
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. 6
20089618 2010
26
A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency. 6
18663314 2008
27
Congenital adrenal hyperplasia in a Nigerian child with a novel compound heterozygote mutation in CYP11B1. 6
17371482 2007
28
Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene. 6
17726333 2007
29
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. 6
16670167 2006
30
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. 57
16551734 2006
31
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. 6
16046588 2005
32
Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. 6
16030166 2005
33
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene. 6
15755848 2005
34
Novel missense mutations, GCC [Ala306]- > GTC [Val] and ACG [Thr318]- > CCG [Pro], in the CYP11B1 gene cause steroid 11beta-hydroxylase deficiency in the Chinese. 6
15807871 2005
35
Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. 6
15751602 2005
36
Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia. 6
11549691 2001
37
Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1. 6
11095433 2000
38
Nonclassic 11 beta-hydroxylase deficiency: report of two patients and review. 57
10689646 2000
39
Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia. 6
10487675 1999
40
Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. 6
9435454 1998
41
CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 6
9302260 1997
42
Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. 6
8964882 1996
43
A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency. 6
7903314 1993
44
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. 6
8506298 1993
45
High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco. 57
1554023 1992
46
11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis. 57
3346360 1988
47
Congenital adrenal hyperplasia (2). 57
3295546 1987
48
Early diagnosis of 11 beta-hydroxylase deficiency in two siblings confirmed by analysis of a novel steroid metabolite in newborn urine. 57
3515819 1986
49
Hypertension in a neonate with 11 beta-hydroxylase deficiency. 57
3872797 1985
50
An update of congenital adrenal hyperplasia. 57
7025132 1981

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

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

6 (show top 50) (show all 196)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.953C>T (p.Thr318Met) SNV Pathogenic 1173 rs104894061 GRCh37: 8:143957658-143957658
GRCh38: 8:142876242-142876242
2 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln) SNV Pathogenic 1174 rs104894062 GRCh37: 8:143957128-143957128
GRCh38: 8:142875712-142875712
3 CYP11B1 CYP11B1, 2-BP INS Insertion Pathogenic 1175 GRCh37:
GRCh38:
4 CYP11B1 NM_000497.3(CYP11B1):c.347G>A (p.Trp116Ter) SNV Pathogenic 1176 rs104894066 GRCh37: 8:143960496-143960496
GRCh38: 8:142879080-142879080
5 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.397A>C (p.Asn133His) SNV Pathogenic 1177 rs104894067 GRCh37: 8:143958637-143958637
GRCh38: 8:142877221-142877221
6 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.956C>T (p.Thr319Met) SNV Pathogenic 1178 rs104894068 GRCh37: 8:143957293-143957293
GRCh38: 8:142875877-142875877
7 CYP11B1 NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) SNV Pathogenic 1179 rs104894069 GRCh37: 8:143961106-143961106
GRCh38: 8:142879690-142879690
8 CYP11B1 CYP11B1, 954G-A SNV Pathogenic 1180 GRCh37:
GRCh38:
9 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1398+4A>G SNV Pathogenic 1181 rs1586557065 GRCh37: 8:143956369-143956369
GRCh38: 8:142874953-142874953
10 CYP11B1 CYP11B1, CYP11B1/CYP11B2 CHIMERA Deletion Pathogenic 1182 GRCh37:
GRCh38:
11 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.595+16G>T SNV Pathogenic 1183 rs1365173817 GRCh37: 8:143958423-143958423
GRCh38: 8:142877007-142877007
12 CYP11B1 CYP11B1, CYP11B1/CYP11B2 CHIMERA Deletion Pathogenic 1184 GRCh37:
GRCh38:
13 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp) SNV Pathogenic 1187 rs104894071 GRCh37: 8:143957146-143957146
GRCh38: 8:142875730-142875730
14 CYP11B1 NM_001026213.1(CYP11B1):c.317_344del (p.Leu106fs) Deletion Pathogenic 551876 rs764418169 GRCh37: 8:143960499-143960526
GRCh38: 8:142879083-142879110
15 CYP11B1 NM_000497.3(CYP11B1):c.372del (p.His125fs) Deletion Pathogenic 551998 rs1554653520 GRCh37: 8:143960471-143960471
GRCh38: 8:142879055-142879055
16 LOC106799833 , CYP11B1 NM_001026213.1(CYP11B1):c.1181del (p.Asn394fs) Deletion Pathogenic 447222 rs1256580853 GRCh37: 8:143956669-143956669
GRCh38: 8:142875253-142875253
17 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.740G>A (p.Trp247Ter) SNV Pathogenic 554358 rs866430018 GRCh37: 8:143958157-143958157
GRCh38: 8:142876741-142876741
18 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.780G>A (p.Trp260Ter) SNV Pathogenic 555090 rs1554652998 GRCh37: 8:143958117-143958117
GRCh38: 8:142876701-142876701
19 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.779G>A (p.Trp260Ter) SNV Pathogenic 558298 rs1554652999 GRCh37: 8:143958118-143958118
GRCh38: 8:142876702-142876702
20 LOC106799833 , CYP11B1 NM_000497.4(CYP11B1):c.1438del (p.Asp480fs) Deletion Pathogenic 995870 GRCh37: 8:143955863-143955863
GRCh38: 8:142874447-142874447
21 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) SNV Pathogenic 56830 rs146124466 GRCh37: 8:143957183-143957183
GRCh38: 8:142875767-142875767
22 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) SNV Pathogenic 56830 rs146124466 GRCh37: 8:143957183-143957183
GRCh38: 8:142875767-142875767
23 LOC106799833 , CYP11B1 NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro) SNV Pathogenic 1030831 GRCh37: 8:143956428-143956428
GRCh38: 8:142875012-142875012
24 CYP11B1 NM_000497.4(CYP11B1):c.199del (p.Glu67fs) Deletion Pathogenic 1032395 GRCh37: 8:143961031-143961031
GRCh38: 8:142879615-142879615
25 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.595+1G>A SNV Pathogenic/Likely pathogenic 552484 rs1264073726 GRCh37: 8:143958438-143958438
GRCh38: 8:142877022-142877022
26 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) SNV Pathogenic/Likely pathogenic 1185 rs267606755 GRCh37: 8:143956502-143956502
GRCh38: 8:142875086-142875086
27 CYP11B1 NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) SNV Pathogenic/Likely pathogenic 1186 rs104894070 GRCh37: 8:143960562-143960562
GRCh38: 8:142879146-142879146
28 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) SNV Likely pathogenic 56831 rs140336749 GRCh37: 8:143958607-143958607
GRCh38: 8:142877191-142877191
29 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro) SNV Likely pathogenic 56832 rs387907573 GRCh37: 8:143957715-143957715
GRCh38: 8:142876299-142876299
30 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val) SNV Likely pathogenic 56833 rs387907572 GRCh37: 8:143957694-143957694
GRCh38: 8:142876278-142876278
31 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1159dup (p.Ser387fs) Duplication Likely pathogenic 552515 rs1379392398 GRCh37: 8:143956690-143956691
GRCh38: 8:142875274-142875275
32 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.992C>T (p.Ala331Val) SNV Likely pathogenic 552598 rs1326688256 GRCh37: 8:143957257-143957257
GRCh38: 8:142875841-142875841
33 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) SNV Likely pathogenic 447228 rs753774484 GRCh37: 8:143957657-143957657
GRCh38: 8:142876241-142876241
34 LOC110673972 , CYP11B1 NM_000497.3(CYP11B1):c.55C>T (p.Gln19Ter) SNV Likely pathogenic 551903 rs763195324 GRCh37: 8:143961175-143961175
GRCh38: 8:142879759-142879759
35 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.955-1G>A SNV Likely pathogenic 551042 rs1456715954 GRCh37: 8:143957295-143957295
GRCh38: 8:142875879-142875879
36 LOC106799833 , CYP11B1 NM_001026213.1(CYP11B1):c.1200+84del Deletion Likely pathogenic 551325 rs1554652650 GRCh37: 8:143956566-143956566
GRCh38: 8:142875150-142875150
37 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) Insertion Likely pathogenic 447227 rs775128501 GRCh37: 8:143957769-143957770
GRCh38: 8:142876353-142876354
38 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) SNV Likely pathogenic 1171 rs28934586 GRCh37: 8:143956428-143956428
GRCh38: 8:142875012-142875012
39 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) SNV Likely pathogenic 552238 rs764598023 GRCh37: 8:143956699-143956699
GRCh38: 8:142875283-142875283
40 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) SNV Likely pathogenic 235678 rs779103938 GRCh37: 8:143956440-143956440
GRCh38: 8:142875024-142875024
41 CYP11B1 NM_000497.3(CYP11B1):c.168G>A (p.Trp56Ter) SNV Likely pathogenic 556273 rs1383321200 GRCh37: 8:143961062-143961062
GRCh38: 8:142879646-142879646
42 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1361G>A (p.Arg454His) SNV Likely pathogenic 556405 rs367634557 GRCh37: 8:143956410-143956410
GRCh38: 8:142874994-142874994
43 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.953C>G (p.Thr318Arg) SNV Likely pathogenic 556549 rs104894061 GRCh37: 8:143957658-143957658
GRCh38: 8:142876242-142876242
44 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1128C>A (p.Tyr376Ter) SNV Likely pathogenic 555319 rs760880418 GRCh37: 8:143956722-143956722
GRCh38: 8:142875306-142875306
45 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.799+1G>C SNV Likely pathogenic 557394 rs1554652990 GRCh37: 8:143958097-143958097
GRCh38: 8:142876681-142876681
46 CYP11B1 NM_000497.3(CYP11B1):c.147del (p.Trp49fs) Deletion Likely pathogenic 558322 rs748867146 GRCh37: 8:143961083-143961083
GRCh38: 8:142879667-142879667
47 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1398+2T>C SNV Likely pathogenic 558475 rs577022490 GRCh37: 8:143956371-143956371
GRCh38: 8:142874955-142874955
48 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) SNV Likely pathogenic 552238 rs764598023 GRCh37: 8:143956699-143956699
GRCh38: 8:142875283-142875283
49 LOC106799833 , CYP11B1 NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) SNV Likely pathogenic 995869 GRCh37: 8:143957665-143957665
GRCh38: 8:142876249-142876249
50 LOC106799833 , CYP11B1 NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter) SNV Likely pathogenic 984080 GRCh37: 8:143957761-143957761
GRCh38: 8:142876345-142876345

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

72 (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 rs156386789
10 CYP11B1 p.Pro94Leu VAR_065666 rs104894070
11 CYP11B1 p.Thr318Arg VAR_065667 rs104894061
12 CYP11B1 p.Pro42Leu VAR_074493 rs193922538
13 CYP11B1 p.Phe79Ile VAR_074494 rs148963819
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 rs377423817
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 rs155465319
25 CYP11B1 p.Pro159Leu VAR_074506 rs370266763
26 CYP11B1 p.Ala165Asp VAR_074508 rs155465318
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 rs133628584
33 CYP11B1 p.Thr318Pro VAR_074516 rs129696998
34 CYP11B1 p.Phe321Val VAR_074517 rs145337111
35 CYP11B1 p.Ala331Val VAR_074518 rs132668825
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 rs122101043
48 CYP11B1 p.Arg453Gln VAR_074532 rs144706909
49 CYP11B1 p.Leu489Ser VAR_074534 rs750428278
50 CYP11B1 p.Arg332Gly VAR_075554

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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