AH4
MCID: ADR051
MIFTS: 41

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 56
Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency 52 25 58 73 71
Deficiency of Steroid 11-Beta-Monooxygenase 25 29 6
11-Beta-Hydroxylase Deficiency 56 52 71
P450c11b1 Deficiency 56 52 25
Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 56 13
Cah Due to 11-Beta-Hydroxylase Deficiency 52 58
Steroid 11-Beta-Hydroxylase Deficiency 56 52
Adrenal Hyperplasia, Hypertensive Form 56 25
11 Beta Hydroxylase Deficiency 74 25
Adrenal Hyperplasia Iv 56 52
Adrenal Hyperplasia 4 52 73
Cyp11b1 Deficiency 52 58
Steroid 11-Beta-Monooxygenase Deficiency 39
Steroid 11 Beta Hydroxylase Deficiency 25
Adrenal Hyperplasia Hypertensive Form 52
Adrenal Hyperplasia Type Iv 73
11b Hydroxylase Deficiency 25
Ah-Iv 73
Ah4 73

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:

56
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...

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. 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 adrenogenital syndrome and 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 delayed skeletal maturation and osteoporosis

NIH Rare Diseases : 52 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 : 56 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 : 73 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 : 74 Congenital adrenal hyperplasia due to 11?-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 38)
# Related Disease Score Top Affiliating Genes
1 adrenogenital syndrome 10.6
2 lipoid congenital adrenal hyperplasia 10.5
3 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.5
4 infant gynecomastia 10.4
5 hyperandrogenism 10.4
6 gynecomastia 10.4
7 hypokalemia 10.4
8 familial glucocorticoid deficiency 10.4
9 neurofibromatosis, type ii 10.2
10 cryptorchidism, unilateral or bilateral 10.2
11 intracranial hypertension, idiopathic 10.2
12 hyperprolactinemia 10.2
13 secretory diarrhea 10.2
14 diarrhea 10.2
15 adrenal rest tumor 10.2
16 pseudohermaphroditism 10.2
17 intracranial hypertension 10.2
18 precocious puberty 10.2
19 primary adrenal insufficiency 10.2
20 acute cystitis 10.2
21 autosomal recessive disease 10.1
22 adrenal adenoma 10.1
23 adenoma 10.1
24 hyperaldosteronism, familial, type i 10.0
25 adrenocortical carcinoma, hereditary 10.0
26 yemenite deaf-blind hypopigmentation syndrome 10.0
27 adrenal cortical carcinoma 10.0
28 adrenal cortical adenoma 10.0
29 malignant hypertension 10.0
30 polycystic ovary syndrome 10.0
31 nephrocalcinosis 10.0
32 facial paralysis 10.0
33 amenorrhea 10.0
34 gastroenteritis 10.0
35 adrenal cortical adenocarcinoma 10.0
36 corticosterone methyloxidase deficiency 10.0
37 acute adrenal insufficiency 10.0
38 obsolete: familial hyperreninemic hypoaldosteronism type 1 10.0

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 65)
# 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 abnormality of the menstrual cycle 58 31 hallmark (90%) Very frequent (99-80%) HP:0000140
5 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
6 enlarged polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0008675
7 renal salt wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000127
8 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
9 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
10 adrenocorticotropic hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0011749
11 premature adrenarche 58 31 hallmark (90%) Very frequent (99-80%) HP:0012412
12 hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001007
13 increased circulating androgen level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030348
14 decreased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003351
15 accelerated bone age after puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0002805
16 adrenogenital syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000840
17 congenital adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008258
18 abnormality of hair growth rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0011363
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 long penis 58 31 frequent (33%) Frequent (79-30%) HP:0000040
23 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
24 urogenital sinus anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0100779
25 abnormality of prenatal development or birth 58 31 frequent (33%) Frequent (79-30%) HP:0001197
26 decreased circulating cortisol level 58 31 frequent (33%) Frequent (79-30%) HP:0008163
27 decreased fertility in females 58 31 frequent (33%) Frequent (79-30%) HP:0000868
28 decreased fertility in males 58 31 frequent (33%) Frequent (79-30%) HP:0012041
29 aortic root aneurysm 58 31 frequent (33%) Frequent (79-30%) HP:0002616
30 abnormal ekg 58 31 frequent (33%) Frequent (79-30%) HP:0003115
31 female sexual dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0030014
32 ambiguous genitalia, female 58 31 frequent (33%) Frequent (79-30%) HP:0000061
33 fused labia minora 58 31 frequent (33%) Frequent (79-30%) HP:0000063
34 hypoplasia of the vagina 58 31 frequent (33%) Frequent (79-30%) HP:0008726
35 hyperpigmented genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0030258
36 ectopic adrenal gland 58 31 frequent (33%) Frequent (79-30%) HP:0011742
37 hypervolemia 58 31 frequent (33%) Frequent (79-30%) HP:0011105
38 abnormal circulating aldosterone 58 31 frequent (33%) Frequent (79-30%) HP:0040085
39 clitoral hypertrophy 31 frequent (33%) HP:0008665
40 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
41 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
42 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
43 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
44 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
45 hyperkalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002153
46 bilateral cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0008689
47 hypernatriuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012605
48 hypovolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011106
49 abnormality of the labia majora 58 31 occasional (7.5%) Occasional (29-5%) HP:0012881
50 accelerated skeletal maturation 58 31 Very frequent (99-80%) HP:0005616

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
hypertension

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

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

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, 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:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Clinical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61 56 6
7049883 1982
2
Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. 56 6
1430088 1992
3
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. 56 6
2022736 1991
4
Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase). 61 6
15324322 2004
5
CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 56 61
8768848 1996
6
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency in Saudi Arabia: clinical and biochemical characteristics. 56 61
7670248 1995
7
Growth and pubertal development in patients with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. 61 56
3875277 1985
8
New studies of the 11 beta-hydroxylase and 18-hydroxylase enzymes in the hypertensive form of congenital adrenal hyperplasia. 61 56
6243663 1980
9
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency: final diagnosis in adult age in three patients. 61 56
7355668 1980
10
No linkage between HLA and congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. 61 56
759866 1979
11
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
12
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. 56
16551734 2006
13
Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. 6
16030166 2005
14
Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia. 6
11549691 2001
15
Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1. 6
11095433 2000
16
Nonclassic 11 beta-hydroxylase deficiency: report of two patients and review. 56
10689646 2000
17
CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 6
9302260 1997
18
A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency. 6
7903314 1993
19
High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco. 56
1554023 1992
20
11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis. 56
3346360 1988
21
Congenital adrenal hyperplasia (2). 56
3295546 1987
22
Early diagnosis of 11 beta-hydroxylase deficiency in two siblings confirmed by analysis of a novel steroid metabolite in newborn urine. 56
3515819 1986
23
Hypertension in a neonate with 11 beta-hydroxylase deficiency. 56
3872797 1985
24
An update of congenital adrenal hyperplasia. 56
7025132 1981
25
Prenatal diagnosis of 11beta-hydroxylase deficiency congenital adrenal hyperplasia. 56
314453 1979
26
HLA and congenital adrenal hyperplasia due to 11-hydroxylase deficiency. 56
494231 1979
27
Adrenocortical factors in hypertension. I. Significance of 18-hydroxy-11-deoxycorticosterone. 56
187051 1976
28
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. 61
27928728 2017
29
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X. 61
27821898 2016
30
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations. 61
24022297 2014
31
Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients. 61
19567537 2009
32
[Acne infantum as presenting symptom of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency]. 61
16895568 2006
33
[Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency]. 61
16429203 2005
34
Hyperplasia of adrenal rest tissue causing a retroperitoneal mass in a child with 11 beta-hydroxylase deficiency. 61
12876421 2003
35
CT findings in congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency at puberty age. 61
11155857 1999
36
11 beta-hydroxylase deficiency: management of a difficult case by laparoscopic bilateral adrenalectomy. 61
8881456 1996
37
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency with skeletal abnormalities. 61
8796341 1996
38
Characterization of zona glomerulosa function in patients with classic and non-classic forms of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61
7584692 1995
39
Acute adrenal crisis complicating hypertensive congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61
8448909 1993
40
Kinetics and metabolism of 11-deoxycortisol in a patient with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61
8424891 1993
41
Adrenal cortex, tumor, and peripheral production of deoxycorticosterone. 61
1316648 1992
42
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61
1601507 1992
43
Diabetes mellitus associated with late onset congenital adrenal hyperplasia: coincidence or causality? 61
1830536 1991
44
Evidence for a new biologic pathway of androstenedione synthesis from 11-deoxycortisol. 61
2028480 1991
45
[Familial congenital adrenal hyperplasia caused by 11 beta-hydroxylase. Failure of prevention of sexual ambiguity and prenatal diagnosis]. 61
2622705 1989
46
Requirement of mineralocorticoid in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61
3011843 1986
47
Salt loss in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61
6334497 1984
48
Malignant hypertension in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 61
6603291 1983
49
[Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - different HLA genotypes in 2 brothers]. 61
6602259 1983
50
Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients. 61
6296182 1983

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 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP11B1 NM_000497.3(CYP11B1):c.953C>T (p.Thr318Met)SNV Pathogenic 1173 rs104894061 8:143957658-143957658 8:142876242-142876242
2 CYP11B1 NM_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln)SNV Pathogenic 1174 rs104894062 8:143957128-143957128 8:142875712-142875712
3 CYP11B1 CYP11B1, 2-BP INSinsertion Pathogenic 1175
4 CYP11B1 NM_000497.3(CYP11B1):c.347G>A (p.Trp116Ter)SNV Pathogenic 1176 rs104894066 8:143960496-143960496 8:142879080-142879080
5 CYP11B1 NM_000497.3(CYP11B1):c.397A>C (p.Asn133His)SNV Pathogenic 1177 rs104894067 8:143958637-143958637 8:142877221-142877221
6 CYP11B1 NM_000497.3(CYP11B1):c.956C>T (p.Thr319Met)SNV Pathogenic 1178 rs104894068 8:143957293-143957293 8:142875877-142875877
7 CYP11B1 NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser)SNV Pathogenic 1179 rs104894069 8:143961106-143961106 8:142879690-142879690
8 CYP11B1 CYP11B1, 954G-ASNV Pathogenic 1180
9 CYP11B1 NM_000497.3(CYP11B1):c.1398+4A>GSNV Pathogenic 1181 8:143956369-143956369 8:142874953-142874953
10 CYP11B1 CYP11B1, CYP11B1/CYP11B2 CHIMERAdeletion Pathogenic 1182
11 CYP11B1 NM_000497.3(CYP11B1):c.595+16G>TSNV Pathogenic 1183 8:143958423-143958423 8:142877007-142877007
12 CYP11B1 CYP11B1, CYP11B1/CYP11B2 CHIMERAdeletion Pathogenic 1184
13 CYP11B1 NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter)SNV Pathogenic 56830 rs146124466 8:143957183-143957183 8:142875767-142875767
14 CYP11B1 NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp)SNV Pathogenic 1187 rs104894071 8:143957146-143957146 8:142875730-142875730
15 CYP11B1 NM_001026213.1(CYP11B1):c.1181del (p.Asn394fs)deletion Pathogenic 447222 rs1256580853 8:143956669-143956669 8:142875253-142875253
16 CYP11B1 NM_001026213.1(CYP11B1):c.317_344del (p.Leu106fs)deletion Pathogenic 551876 rs764418169 8:143960498-143960526 8:142879083-142879110
17 CYP11B1 NM_000497.3(CYP11B1):c.372del (p.His125fs)deletion Pathogenic 551998 rs1554653520 8:143960470-143960471 8:142879055-142879055
18 CYP11B1 NM_000497.3(CYP11B1):c.780G>A (p.Trp260Ter)SNV Pathogenic 555090 rs1554652998 8:143958117-143958117 8:142876701-142876701
19 CYP11B1 NM_000497.3(CYP11B1):c.740G>A (p.Trp247Ter)SNV Pathogenic 554358 rs866430018 8:143958157-143958157 8:142876741-142876741
20 CYP11B1 NM_000497.3(CYP11B1):c.779G>A (p.Trp260Ter)SNV Pathogenic 558298 rs1554652999 8:143958118-143958118 8:142876702-142876702
21 CYP11B1 NM_000497.3(CYP11B1):c.595+1G>ASNV Pathogenic/Likely pathogenic 552484 rs1264073726 8:143958438-143958438 8:142877022-142877022
22 CYP11B1 NM_000497.3(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs)insertion Pathogenic/Likely pathogenic 447227 rs775128501 8:143957769-143957770 8:142876353-142876354
23 CYP11B1 NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp)SNV Pathogenic/Likely pathogenic 235678 rs779103938 8:143956440-143956440 8:142875024-142875024
24 CYP11B1 NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His)SNV Pathogenic/Likely pathogenic 1171 rs28934586 8:143956428-143956428 8:142875012-142875012
25 CYP11B1 NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter)SNV Pathogenic/Likely pathogenic 1185 rs267606755 8:143956502-143956502 8:142875086-142875086
26 CYP11B1 NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu)SNV Pathogenic/Likely pathogenic 1186 rs104894070 8:143960562-143960562 8:142879146-142879146
27 CYP11B1 NM_000497.3(CYP11B1):c.427C>T (p.Arg143Trp)SNV Likely pathogenic 56831 rs140336749 8:143958607-143958607 8:142877191-142877191
28 CYP11B1 NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro)SNV Likely pathogenic 56832 rs387907573 8:143957715-143957715 8:142876299-142876299
29 CYP11B1 NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val)SNV Likely pathogenic 56833 rs387907572 8:143957694-143957694 8:142876278-142876278
30 CYP11B1 NM_000497.3(CYP11B1):c.954G>A (p.Thr318=)SNV Likely pathogenic 447228 rs753774484 8:143957657-143957657 8:142876241-142876241
31 CYP11B1 NM_000497.3(CYP11B1):c.55C>T (p.Gln19Ter)SNV Likely pathogenic 551903 rs763195324 8:143961175-143961175 8:142879759-142879759
32 CYP11B1 NM_000497.3(CYP11B1):c.147del (p.Trp49fs)deletion Likely pathogenic 558322 rs748867146 8:143961082-143961083 8:142879667-142879667
33 CYP11B1 NM_000497.3(CYP11B1):c.1398+2T>CSNV Likely pathogenic 558475 rs577022490 8:143956371-143956371 8:142874955-142874955
34 CYP11B1 NM_000497.3(CYP11B1):c.45G>A (p.Trp15Ter)SNV Likely pathogenic 558153 rs1554653714 8:143961185-143961185 8:142879769-142879769
35 CYP11B1 NM_000497.3(CYP11B1):c.1361G>A (p.Arg454His)SNV Likely pathogenic 556405 rs367634557 8:143956410-143956410 8:142874994-142874994
36 CYP11B1 NM_000497.3(CYP11B1):c.395+1G>CSNV Likely pathogenic 557677 rs1554653514 8:143960447-143960447 8:142879031-142879031
37 CYP11B1 NM_000497.3(CYP11B1):c.992C>T (p.Ala331Val)SNV Likely pathogenic 552598 rs1326688256 8:143957257-143957257 8:142875841-142875841
38 CYP11B1 NM_000497.3(CYP11B1):c.304C>T (p.Gln102Ter)SNV Likely pathogenic 554812 rs1554653551 8:143960539-143960539 8:142879123-142879123
39 CYP11B1 NM_000497.3(CYP11B1):c.1205del (p.Leu402fs)deletion Likely pathogenic 551325 rs1554652650 8:143956565-143956566 8:142875150-142875150
40 CYP11B1 NM_000497.3(CYP11B1):c.1128C>A (p.Tyr376Ter)SNV Likely pathogenic 555319 rs760880418 8:143956722-143956722 8:142875306-142875306
41 CYP11B1 NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln)SNV Likely pathogenic 552238 rs764598023 8:143956699-143956699 8:142875283-142875283
42 CYP11B1 NM_000497.3(CYP11B1):c.955-1G>ASNV Likely pathogenic 551042 rs1456715954 8:143957295-143957295 8:142875879-142875879
43 CYP11B1 NM_000497.3(CYP11B1):c.799+1G>CSNV Likely pathogenic 557394 rs1554652990 8:143958097-143958097 8:142876681-142876681
44 CYP11B1 NM_000497.3(CYP11B1):c.1159dup (p.Ser387fs)duplication Likely pathogenic 552515 rs1379392398 8:143956690-143956690 8:142875275-142875275
45 CYP11B1 NM_000497.3(CYP11B1):c.953C>G (p.Thr318Arg)SNV Likely pathogenic 556549 rs104894061 8:143957658-143957658 8:142876242-142876242
46 CYP11B1 NM_000497.3(CYP11B1):c.217C>T (p.Gln73Ter)SNV Likely pathogenic 557913 rs1554653675 8:143961013-143961013 8:142879597-142879597
47 CYP11B1 NM_000497.3(CYP11B1):c.168G>A (p.Trp56Ter)SNV Likely pathogenic 556273 rs1383321200 8:143961062-143961062 8:142879646-142879646
48 CYP11B1 NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp)SNV Conflicting interpretations of pathogenicity 362145 rs374517238 8:143955850-143955850 8:142874434-142874434
49 CYP11B1 NM_000497.3(CYP11B1):c.385G>A (p.Val129Met)SNV Uncertain significance 557262 rs377423817 8:143960458-143960458 8:142879042-142879042
50 CYP11B1 NM_000497.3(CYP11B1):c.1486del (p.Leu496fs)deletion Uncertain significance 552192 rs1554652528 8:143955814-143955815 8:142874399-142874399

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

73 (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 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
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...

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