AH3
MCID: ADR042
MIFTS: 54

Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency (AH3)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

MalaCards integrated aliases for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

Name: Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 57 19 12 38
21-Hydroxylase Deficiency 57 39 19 42 75 71
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 19 58 28 5
Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 57 28 5
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 19 75 73
Congenital Adrenal Hyperplasia 1 57 42 73
Cyp21 Deficiency 57 19 42
Cah1 57 42 73
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 39 24
21 Hydroxylase Deficiency 19 75
Classic 21-Ohd Cah 19 58
Hyperandrogenism Nonclassic Type Due to 21-Hydroxylase Deficiency 73
Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency 42
Virilizing Adrenal Hyperplasia 24
Adrenal Hyperplasia Type Iii 73
Adrenal Hyperplasia Iii 57
Adrenal Hyperplasia 3 73
21-Ohd Cah 24
Ah-Iii 73
Ah3 73

Characteristics:


Inheritance:

Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency: Autosomal recessive 57
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Autosomal recessive 58

Prevelance:

Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: 1-9/100000 58

Age Of Onset:

Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal 58

Classifications:

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


Summaries for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

MedlinePlus Genetics: 42 21-hydroxylase deficiency is an inherited disorder that affects 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 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.There are three types of 21-hydroxylase deficiency. Two types are classic forms, known as the salt-wasting and simple virilizing types. The third type is called the non-classic type. The salt-wasting type is the most severe, the simple virilizing type is less severe, and the non-classic type is the least severe form.Males and females with either classic form of 21-hydroxylase deficiency tend to have an early growth spurt, but their final adult height is usually shorter than others in their family. Additionally, affected individuals may have a reduced ability to have biological children (decreased fertility). Females may also develop excessive body hair growth (hirsutism), male pattern baldness, and irregular menstruation.Approximately 75 percent of individuals with classic 21-hydroxylase deficiency have the salt-wasting type. Hormone production is extremely low in this form of the disorder. Affected individuals lose large amounts of sodium in their urine, which can be life-threatening in early infancy. Babies with the salt-wasting type can experience poor feeding, weight loss, dehydration, and vomiting. Individuals with the simple virilizing form do not experience salt loss.In both the salt-wasting and simple virilizing forms of this disorder, females typically have external genitalia that do not look clearly male or female (ambiguous genitalia). Males usually have normal genitalia, but the testes may be small.Females with the non-classic type of 21-hydroxylase deficiency have normal female genitalia. As affected females get older, they may experience hirsutism, male pattern baldness, irregular menstruation, and decreased fertility. Males with the non-classic type may have early beard growth and small testes. Some individuals with this type of 21-hydroxylase deficiency have no symptoms of the disorder.

MalaCards based summary: Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency, also known as 21-hydroxylase deficiency, is related to lipoid congenital adrenal hyperplasia and ehlers-danlos syndrome. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency is CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2). The drugs Racepinephrine and Hydrocortisone succinate have been mentioned in the context of this disorder. Affiliated tissues include adrenal cortex, testes and cortex, and related phenotypes are decreased circulating cortisol level and elevated circulating 17-hydroxyprogesterone

GARD: 19 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). CAH is a group of disorders that affect how the adrenal glands work. In 21-hydroxylase deficiency, a missing enzyme leads to overproduction of specific hormones made by the adrenal glands. There are three types of 21-hydroxylase deficiency that vary by the severity of symptoms. Infants with the more severe forms can experience excessive loss of salt in their urine, which can be serious. Female infants may be born with genitalia that doesn't look male or female (ambiguous genitalia). Children with the less severe forms can have early puberty, excess hair growth, short stature as adults and decreased fertility. 21-hydroxylase deficiency is caused by genetic changes in the CYP21A2 gene and is inherited in an autosomal recessive pattern. Newborn screening is available in all 50 states of the US to test for this disorder at birth. The diagnosis is made based on the clinical symptoms, biochemical and genetic testing.

OMIM®: 57 Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization. Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (118485), CYP17 (609300), and ACTHR (202200) genes are expressed in skin (see 202200). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally. (201910) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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).

Orphanet: 58 A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenia.

Wikipedia: 75 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for over 95%... more...

GeneReviews: NBK1171

Related Diseases for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

Diseases related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 230)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 30.6 TNXB LOC110631417 LOC106780800 CYP21A2
2 ehlers-danlos syndrome 29.7 TNXB CYP21A2
3 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 11.6
4 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 11.6
5 down syndrome 11.4
6 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.3
7 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 11.3
8 adrenal gland disease 11.2
9 hyperandrogenism 10.8
10 premature ovarian failure 7 10.7
11 polycystic ovary syndrome 10.7
12 precocious puberty 10.6
13 acute adrenal insufficiency 10.6
14 acne 10.6
15 adrenal adenoma 10.6
16 adrenogenital syndrome 10.6
17 infertility 10.5
18 conn's syndrome 10.5
19 amenorrhea 10.5
20 polycystic ovary syndrome 1 10.5
21 testicular cancer 10.5
22 turner syndrome 10.5
23 adenoma 10.4
24 adult syndrome 10.4
25 azoospermia 10.4
26 pseudohermaphroditism 10.4
27 leptin deficiency or dysfunction 10.4
28 central precocious puberty 10.4
29 hypoglycemia 10.4
30 adrenal cortical adenoma 10.3
31 hypogonadotropic hypogonadism 10.3
32 male infertility 10.3
33 adrenal rest tumor 10.3
34 hypogonadism 10.3
35 corticosterone methyloxidase deficiency 10.3
36 adrenocortical carcinoma, hereditary 10.3
37 adrenal cortical carcinoma 10.3
38 familial glucocorticoid deficiency 10.3
39 cytochrome p450 oxidoreductase deficiency 10.3
40 inherited metabolic disorder 10.3
41 autoimmune disease 10.2
42 cryptorchidism, unilateral or bilateral 10.2
43 ceroid lipofuscinosis, neuronal, 5 10.2
44 graves disease 1 10.2
45 body mass index quantitative trait locus 11 10.2
46 abdominal obesity-metabolic syndrome 1 10.2
47 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 10.2
48 hypothyroidism 10.2
49 hypogonadotropic hypogonadism 7 with or without anosmia 10.2
50 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 10.2

Graphical network of the top 20 diseases related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:



Diseases related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

Symptoms & Phenotypes for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

Human phenotypes related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

58 30 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased circulating cortisol level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008163
2 elevated circulating 17-hydroxyprogesterone 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031213
3 abnormal response to acth stimulation test 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031074
4 increased circulating progesterone 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031216
5 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
6 hypotension 58 30 Frequent (33%) Frequent (79-30%)
HP:0002615
7 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
8 dehydration 58 30 Frequent (33%) Frequent (79-30%)
HP:0001944
9 vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002013
10 acne 58 30 Frequent (33%) Frequent (79-30%)
HP:0001061
11 decreased fertility 58 30 Frequent (33%) Frequent (79-30%)
HP:0000144
12 hyponatremia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002902
13 weight loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0001824
14 hyperkalemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002153
15 neonatal hypoglycemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001998
16 accelerated skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0005616
17 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
18 hirsutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0001007
19 decreased circulating aldosterone level 58 30 Frequent (33%) Frequent (79-30%)
HP:0004319
20 clitoral hypertrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008665
21 increased circulating acth level 58 30 Frequent (33%) Frequent (79-30%)
HP:0003154
22 oligomenorrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000876
23 hypovolemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0011106
24 increased serum testosterone level 58 30 Frequent (33%) Frequent (79-30%)
HP:0030088
25 renal salt wasting 58 30 Frequent (33%) Frequent (79-30%)
HP:0000127
26 hypernatriuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0012605
27 premature pubarche 58 30 Frequent (33%) Frequent (79-30%)
HP:0012411
28 hyperkalemic metabolic acidosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0005976
29 elevated urinary epinephrine 58 30 Frequent (33%) Frequent (79-30%)
HP:0003639
30 hypocapnia 58 30 Frequent (33%) Frequent (79-30%)
HP:0012417
31 hyperactive renin-angiotensin system 58 30 Frequent (33%) Frequent (79-30%)
HP:0000841
32 hypochloremia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003113
33 premature fusion of the radial epiphyseal plates 58 30 Frequent (33%) Frequent (79-30%)
HP:0004012
34 abnormal ovarian physiology 58 30 Frequent (33%) Frequent (79-30%)
HP:0031066
35 increased circulating androstenedione concentration 30 Frequent (33%) HP:0025380
36 abnormal circulating dehydroepiandrosterone concentration 30 Frequent (33%) HP:0500022
37 tall stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000098
38 decreased testicular size 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008734
39 urogenital sinus anomaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100779
40 long penis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000040
41 premature adrenarche 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012412
42 aplasia of the uterus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000151
43 shock 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031273
44 ambiguous genitalia, female 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000061
45 frontal balding 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002292
46 testicular adrenal rest tumor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025451
47 fused labia majora 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025486
48 precocious puberty in females 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010465
49 hypogonadotropic hypogonadism 30 Occasional (7.5%) HP:0000044
50 growth abnormality 58 30 Frequent (79-30%)
HP:0001507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Metabolic:
hypertension
hypoglycemia
recurrent fever
salt-wasting

Endo:
adrenogenital syndrome
virilization

Thorax:
gynecomastia in adults

G U:
hypospadias
masculinized females
testicular tumors in adults

Growth:
accelerated

Lab:
21-hydroxylase deficiency

Clinical features from OMIM®:

201910 (Updated 08-Dec-2022)

Drugs & Therapeutics for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

Drugs for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved, Vet_approved Phase 2 51-43-4, 329-65-7 838 5816
2
Hydrocortisone succinate Approved Phase 2 2203-97-6 3643
3
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 3640 5754
5
Fludrocortisone Approved, Investigational Phase 2 127-31-1 31378
6 Hydrocortisone-17-butyrate Phase 1, Phase 2
7 Epinephryl borate Phase 2
8 Anti-Inflammatory Agents Phase 2
9 Hydrocortisone 17-butyrate 21-propionate Phase 2
10 Hormones Phase 2
11
Abiraterone Acetate Phase 2 154229-18-2 9821849
12 Hormone Antagonists Phase 2
13 Cytochrome P-450 Enzyme Inhibitors Phase 2
14 Androgens Phase 2
15 17 alpha-Hydroxyprogesterone Caproate Phase 2
16 11-hydroxyprogesterone Phase 2
17
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3 3680
18
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 3003 5743
19
Tetracosactide Approved 16960-16-0 16133802 16129617
20 Insulin, Globin Zinc
21
Insulin
22 Immunoglobulins
23 Antibodies

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Phase 2, Open Label, Crossover Pharmacokinetic and Pharmacodynamic Study to Compare Chronocort Versus Cortef in Patients With CAH Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
2 A 3-Month Phase 2 Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia Completed NCT03687242 Phase 2 SPR001
3 A Phase 1-2 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children With Classic 21-Hydroxylase Deficiency Not yet recruiting NCT03548246 Phase 2 Abiraterone acetate;Placebo;Hydrocortisone;Fludrocortisone
4 An Open-Label, Multiple-Dose, Dose-Finding Study of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
5 A Phase 1 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children With Classic 21-Hydroxylase Deficiency Active, not recruiting NCT02574910 Phase 1 Abiraterone acetate
6 Evaluation of Adrenocortical Functions by Insulin Tolerance Test and Sodium Depletion in Women With Nonclassical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Comparison With Healthy Volunteers. Unknown status NCT01862380
7 Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency Unknown status NCT00694525
8 Long-Term Outcome in Offspring and Mothers of Dexamethasone-Treated Pregnancies at Risk for Classical Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency Unknown status NCT00617292
9 Modifier Genes in 21-Hydroxylase Deficiency Completed NCT00542841
10 Evaluation of Cardiovascular Risk Profile in Adult Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency Diagnosed During Childhood Completed NCT01807364
11 Pre-screening Study to Identify Adult Participants With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Who May Be Eligible for Treatment in the CAH-301 Trial With BBP-631, an Adeno-associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human CYP21A2 Gene Recruiting NCT05101902

Search NIH Clinical Center for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

Genetic Tests for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

Genetic tests related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

# Genetic test Affiliating Genes
1 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 28 CYP21A2
2 Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 28

Anatomical Context for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

Organs/tissues related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

MalaCards : Adrenal Cortex, Testes, Cortex, Skin, Uterus, Bone, Adrenal Gland

Publications for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

Articles related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

(show top 50) (show all 2476)
# Title Authors PMID Year
1
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. 62 24 57 5
12915679 2003
2
Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. 62 24 57 5
10720040 2000
3
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients. 62 57 5
18381579 2008
4
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors. 62 57 5
9661649 1998
5
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan. 62 57 5
9215318 1997
6
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles. 62 57 5
9099839 1997
7
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency. 62 57 5
8989258 1997
8
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. 62 57 5
8968761 1996
9
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 62 57 5
1644925 1992
10
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 62 24 5
23359698 2013
11
Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. 62 24 57
17456574 2007
12
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes. 62 24 57
12384784 2002
13
Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency. 62 24 57
11070100 2000
14
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 62 24 57
10084573 1999
15
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. 62 24 57
9512201 1998
16
Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. 62 24 57
7479886 1995
17
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. 62 24 5
3260033 1988
18
High frequency of nonclassical steroid 21-hydroxylase deficiency. 62 24 57
9556656 1985
19
An unusually high incidence of salt-losing congenital adrenal hyperplasia in the Alaskan Eskimo. 57 5
5804199 1969
20
Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. 24 5
2845408 1988
21
Structure of human steroid 21-hydroxylase genes. 24 57
3487786 1986
22
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. 24 57
3486422 1986
23
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency. 62 5
32616876 2020
24
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. 62 57
32966723 2020
25
21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification. 62 5
31586465 2020
26
Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population. 62 5
33552137 2020
27
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency. 62 5
30968594 2019
28
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency. 62 5
31333583 2019
29
Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation. 62 5
30611409 2019
30
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling. 62 5
29996815 2018
31
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening. 62 5
28392195 2018
32
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants. 62 5
29035424 2018
33
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia. 62 5
28819757 2017
34
Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians. 62 57
28541281 2017
35
[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia]. 62 5
28161392 2017
36
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. 62 5
27041116 2017
37
21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations. 62 5
26804566 2016
38
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency. 62 5
26184415 2015
39
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients. 62 5
25227725 2014
40
131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency. 62 5
25121463 2014
41
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene. 62 5
24667412 2014
42
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. 62 5
24077358 2013
43
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. 62 5
23769969 2013
44
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center. 62 5
24904866 2013
45
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation. 62 5
23142378 2013
46
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone. 62 5
22313422 2012
47
Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman. 62 5
22270556 2012
48
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia. 62 5
21609351 2011
49
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 62 5
21098686 2011
50
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 62 5
20926536 2011

Variations for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

ClinVar genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

5 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP21A2 NM_000500.5:c.293-13A>G(659A>G) VAR Pathogenic
65606 GRCh37:
GRCh38:
2 CYP21A2 NM_000500.7:c.*28697972C>G SNV Pathogenic
189131 GRCh37:
GRCh38:
3 CYP21A2 NM_000500.7:c.*28698317T>A SNV Pathogenic
189132 GRCh37:
GRCh38:
4 CYP21A2 NM_000500.7:c.*28699001G>T SNV Pathogenic
189133 GRCh37:
GRCh38:
5 CYP21A2 NM_000500.7:c.*28697405C>T SNV Pathogenic
189134 GRCh37:
GRCh38:
6 CYP21A2 NM_000500.7:c.*28699312C>T SNV Pathogenic
189135 GRCh37:
GRCh38:
7 CYP21A2 NM_000500.7:c.*28699426C>T SNV Pathogenic
189136 GRCh37:
GRCh38:
8 CYP21A2 NM_000500.7:c.*28698024_*28698031del8 DEL Pathogenic
189142 GRCh37:
GRCh38:
9 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) SNV Pathogenic
18452 rs267606757 GRCh37: 6:32006939-32006939
GRCh38: 6:32039162-32039162
10 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1126G>A (p.Gly376Ser) SNV Pathogenic
12181 rs151344506 GRCh37: 6:32008452-32008452
GRCh38: 6:32040675-32040675
11 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) SNV Pathogenic
12179 rs72552757 GRCh37: 6:32008648-32008648
GRCh38: 6:32040871-32040871
12 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.293-2A>G SNV Pathogenic
12177 rs1582302625 GRCh37: 6:32006869-32006869
GRCh38: 6:32039092-32039092
13 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.85dup (p.His29fs) DUP Pathogenic
12176 rs1582299448 GRCh37: 6:32006282-32006283
GRCh38: 6:32038505-32038506
14 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His) SNV Pathogenic
12175 rs151344504 GRCh37: 6:32008703-32008703
GRCh38: 6:32040926-32040926
15 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.939+1G>C SNV Pathogenic
12168 GRCh37: 6:32007983-32007983
GRCh38: 6:32040206-32040206
16 CYP21A2 CYP21A2, GENE CONVERSION CYP21 FROM CYP21P VAR Pathogenic
12161 GRCh37:
GRCh38:
17 CYP21A2 CYP21A2, 30-KB DEL DEL Pathogenic
12160 GRCh37:
GRCh38:
18 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter) SNV Pathogenic
800601 rs1367112998 GRCh37: 6:32008695-32008695
GRCh38: 6:32040918-32040918
19 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser) SNV Pathogenic
800602 rs1582312633 GRCh37: 6:32008714-32008714
GRCh38: 6:32040937-32040937
20 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) SNV Pathogenic
12156 rs201552310 GRCh37: 6:32007917-32007917
GRCh38: 6:32040140-32040140
21 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) SNV Pathogenic
800621 rs1582304457 GRCh37: 6:32007194-32007194
GRCh38: 6:32039417-32039417
22 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) SNV Pathogenic
800622 rs1582304536 GRCh37: 6:32007210-32007210
GRCh38: 6:32039433-32039433
23 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.651+2T>G SNV Pathogenic
1119979 GRCh37: 6:32007426-32007426
GRCh38: 6:32039649-32039649
24 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.833dup (p.Glu279fs) DUP Pathogenic
1119995 GRCh37: 6:32007875-32007876
GRCh38: 6:32040098-32040099
25 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1118+2T>C SNV Pathogenic
997808 rs1776240589 GRCh37: 6:32008363-32008363
GRCh38: 6:32040586-32040586
26 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.923del (p.Leu308fs) DEL Pathogenic
1685686 GRCh37: 6:32007960-32007960
GRCh38: 6:32040183-32040183
27 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) SNV Pathogenic
804725 rs72552758 GRCh37: 6:32008696-32008696
GRCh38: 6:32040919-32040919
28 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp) SNV Pathogenic
12172 GRCh37: 6:32008469-32008469
GRCh38: 6:32040692-32040692
29 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.511dup (p.Ser171fs) DUP Pathogenic
12178 GRCh37: 6:32007195-32007196
GRCh38: 6:32039418-32039419
30 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.913G>A (p.Val305Met) SNV Pathogenic
Uncertain Significance
1675317 GRCh37: 6:32007956-32007956
GRCh38: 6:32040179-32040179
31 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.433del (p.Gln145fs) DEL Pathogenic
1687249 GRCh37: 6:32007009-32007009
GRCh38: 6:32039232-32039232
32 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter) SNV Pathogenic
12171 rs151344503 GRCh37: 6:32008543-32008543
GRCh38: 6:32040766-32040766
33 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.317C>T (p.Pro106Leu) SNV Pathogenic
12158 GRCh37: 6:32006895-32006895
GRCh38: 6:32039118-32039118
34 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) SNV Pathogenic
12170 rs6445 GRCh37: 6:32008783-32008783
GRCh38: 6:32041006-32041006
35 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) SNV Pathogenic
Pathogenic
Pathogenic
12150 rs6475 GRCh37: 6:32007203-32007203
GRCh38: 6:32039426-32039426
36 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) SNV Pathogenic
12153 rs9378251 GRCh37: 6:32006291-32006291
GRCh38: 6:32038514-32038514
37 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) DEL Pathogenic
12164 rs387906510 GRCh37: 6:32006910-32006917
GRCh38: 6:32039133-32039140
38 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) INDEL Pathogenic
189145 rs786204728 GRCh37: 6:32007584-32007593
GRCh38: 6:32039807-32039816
39 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) SNV Pathogenic
31662 rs12530380 GRCh37: 6:32007587-32007587
GRCh38: 6:32039810-32039810
40 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) SNV Pathogenic
65613 rs12530380 GRCh37: 6:32007587-32007587
GRCh38: 6:32039810-32039810
41 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) SNV Pathogenic
242761 rs1554299737 GRCh37: 6:32007584-32007584
GRCh38: 6:32039807-32039807
42 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) SNV Pathogenic
12151 rs6471 GRCh37: 6:32007887-32007887
GRCh38: 6:32040110-32040110
43 TNXB, LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) SNV Pathogenic
12152 rs7769409 GRCh37: 6:32008312-32008312
GRCh38: 6:32040535-32040535
44 TNXB, LOC106780800, CYP21A2 NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) SNV Pathogenic
12169 rs7755898 GRCh37: 6:32008198-32008198
GRCh38: 6:32040421-32040421
45 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) DUP Pathogenic
65611 rs267606756 GRCh37: 6:32007959-32007960
GRCh38: 6:32040182-32040183
46 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) SNV Pathogenic
12182 rs6471 GRCh37: 6:32007887-32007887
GRCh38: 6:32040110-32040110
47 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) SNV Pathogenic/Likely Pathogenic
12159 rs6445 GRCh37: 6:32008783-32008783
GRCh38: 6:32041006-32041006
48 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) SNV Pathogenic/Likely Pathogenic
448899 rs1554305880 GRCh37: 6:32008361-32008361
GRCh38: 6:32040584-32040584
49 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly) SNV Likely Pathogenic
448906 rs1554304513 GRCh37: 6:32006570-32006570
GRCh38: 6:32038793-32038793
50 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn) SNV Likely Pathogenic
448904 rs1429901248 GRCh37: 6:32008462-32008462
GRCh38: 6:32040685-32040685

UniProtKB/Swiss-Prot genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

73 (show top 50) (show all 66)
# Symbol AA change Variation ID SNP ID
1 CYP21A2 p.Pro30Leu VAR_001281 rs9378251
2 CYP21A2 p.Pro105Leu VAR_001284 rs550051210
3 CYP21A2 p.Cys169Tyr VAR_001285
4 CYP21A2 p.Ile172Asn VAR_001286 rs6475
5 CYP21A2 p.Ile236Asn VAR_001288 rs111647200
6 CYP21A2 p.Val237Glu VAR_001289 rs12530380
7 CYP21A2 p.Met239Lys VAR_001290 rs6476
8 CYP21A2 p.Val281Leu VAR_001292 rs6471
9 CYP21A2 p.Gly291Ser VAR_001293 rs201552310
10 CYP21A2 p.Arg339His VAR_001294 rs72552754
11 CYP21A2 p.Arg341Trp VAR_001295 rs72552755
12 CYP21A2 p.Arg356Pro VAR_001296
13 CYP21A2 p.Arg356Gln VAR_001297 rs574370139
14 CYP21A2 p.Arg356Trp VAR_001298 rs7769409
15 CYP21A2 p.Glu380Asp VAR_001299 rs72552756
16 CYP21A2 p.Pro453Ser VAR_001300 rs6445
17 CYP21A2 p.Arg483Pro VAR_001301 rs200005406
18 CYP21A2 p.Gly64Glu VAR_007923
19 CYP21A2 p.Ala362Val VAR_007924
20 CYP21A2 p.His62Leu VAR_018364 rs9378252
21 CYP21A2 p.Gly291Arg VAR_018365 rs201552310
22 CYP21A2 p.Ser301Tyr VAR_018366
23 CYP21A2 p.Arg341Pro VAR_018367 rs747079101
24 CYP21A2 p.Arg483Gln VAR_018368 rs200005406
25 CYP21A2 p.Pro30Gln VAR_026060
26 CYP21A2 p.Gly90Val VAR_026061
27 CYP21A2 p.Arg124His VAR_026062 rs72552750
28 CYP21A2 p.Gly178Ala VAR_026063 rs72552751
29 CYP21A2 p.Val211Leu VAR_026064
30 CYP21A2 p.Leu261Pro VAR_026065 rs750337015
31 CYP21A2 p.Val281Gly VAR_026066
32 CYP21A2 p.Met283Leu VAR_026067
33 CYP21A2 p.Gly291Cys VAR_026068
34 CYP21A2 p.Leu300Phe VAR_026069 rs765001985
35 CYP21A2 p.Leu317Met VAR_026071
36 CYP21A2 p.Arg354Cys VAR_026072 rs772900496
37 CYP21A2 p.Arg354His VAR_026073 rs760216630
38 CYP21A2 p.Leu363Trp VAR_026074
39 CYP21A2 p.His365Tyr VAR_026075 rs1330554738
40 CYP21A2 p.Arg408Cys VAR_026077 rs72552757
41 CYP21A2 p.Gly424Ser VAR_026078 rs72552758
42 CYP21A2 p.Arg426His VAR_026079 rs151344504
43 CYP21A2 p.Arg435Cys VAR_026080 rs767333157
44 CYP21A2 p.Arg479Leu VAR_026081 rs184649564
45 CYP21A2 p.Pro482Ser VAR_026082 rs776989258
46 CYP21A2 p.Arg483Trp VAR_026083 rs759736443
47 CYP21A2 p.Gly56Arg VAR_065668 rs1413433421
48 CYP21A2 p.Ile77Thr VAR_065669 rs1333278223
49 CYP21A2 p.Leu107Arg VAR_065670 rs957886272
50 CYP21A2 p.Lys121Gln VAR_065671 rs547552654

Expression for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

Search GEO for disease gene expression data for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency.

Pathways for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

GO Terms for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

Sources for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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