AH3
MCID: ADR042
MIFTS: 50

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

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

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 20 13 39
21-Hydroxylase Deficiency 57 40 73 20 43 70
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 73 20 72 6
Congenital Adrenal Hyperplasia 1 57 43 72
Cyp21 Deficiency 57 20 43
Cah1 57 43 72
Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 57 6
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 40 25
21 Hydroxylase Deficiency 73 20
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 58
Hyperandrogenism Nonclassic Type Due to 21-Hydroxylase Deficiency 72
Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency 43
Congenital Adrenal Hyperplasia 1; Cah1 57
Virilizing Adrenal Hyperplasia 25
Adrenal Hyperplasia Type Iii 72
Adrenal Hyperplasia Iii 57
Adrenal Hyperplasia 3 72
Classic 21-Ohd Cah 58
21-Ohd Cah 25
Ah-Iii 72
Ah3 72

Characteristics:

Orphanet epidemiological data:

58
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM® 57 201910
MeSH 44 D000312
ICD10 via Orphanet 33 E25.0
UMLS via Orphanet 71 C2936858
Orphanet 58 ORPHA90794
UMLS 70 C0852654

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

MedlinePlus Genetics : 43 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 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 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 Pharmaceutical Solutions and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and cortex, and related phenotypes are hypertension and gynecomastia

GARD : 20 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 life-threatening. 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. Treatment is available and involves managing the symptoms through steroids and other medications. The long-term outlook for people with 21-hydroxylase deficiency depends on the severity of symptoms and the ability to manage the condition with medications.

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 20-May-2021)

UniProtKB/Swiss-Prot : 72 Adrenal hyperplasia 3: 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 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 175)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 31.2 LOC110631417 LOC106780800 CYP21A2
2 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 31.2 TNXB LOC110631417 LOC106780800 CYP21A2
3 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.6
4 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 11.4
5 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 11.4
6 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 11.2
7 hyperandrogenism 10.8
8 autosomal recessive disease 10.7
9 precocious puberty 10.6
10 acne 10.6
11 polycystic ovary syndrome 10.5
12 adrenogenital syndrome 10.5
13 amenorrhea 10.5
14 adenoma 10.5
15 infertility 10.4
16 adrenal adenoma 10.4
17 pseudohermaphroditism 10.4
18 azoospermia 10.3
19 turner syndrome 10.3
20 hypoglycemia 10.3
21 adrenal cortical adenoma 10.3
22 male infertility 10.3
23 gonadal dysgenesis 10.3
24 adrenocortical carcinoma, hereditary 10.3
25 body mass index quantitative trait locus 11 10.3
26 adrenal cortical carcinoma 10.3
27 familial glucocorticoid deficiency 10.3
28 hypogonadotropic hypogonadism 10.3
29 adrenal rest tumor 10.3
30 hypogonadism 10.3
31 adrenal cortical adenocarcinoma 10.3
32 inherited metabolic disorder 10.3
33 dowling-degos disease 1 10.2
34 premature ovarian failure 7 10.2
35 cytochrome p450 oxidoreductase deficiency 10.2
36 central precocious puberty 10.2
37 acute adrenal insufficiency 10.2
38 autoimmune disease 10.2
39 cryptorchidism, unilateral or bilateral 10.2
40 abdominal obesity-metabolic syndrome 1 10.2
41 glucocorticoid-induced osteoporosis 10.2
42 urinary tract infection 10.2
43 ovarian disease 10.2
44 infant gynecomastia 10.2
45 gestational diabetes 10.2
46 conn's syndrome 10.2
47 gynecomastia 10.2
48 acute cystitis 10.2
49 oligospermia 10.2
50 hypothyroidism 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 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 Frequent (79-30%) HP:0000822
2 gynecomastia 58 31 Occasional (29-5%) HP:0000771
3 renal salt wasting 58 31 Occasional (29-5%) HP:0000127
4 adrenogenital syndrome 58 31 Very frequent (99-80%) HP:0000840
5 intellectual disability 58 Occasional (29-5%)
6 failure to thrive 58 Occasional (29-5%)
7 hypotension 58 Very frequent (99-80%)
8 short stature 58 Very frequent (99-80%)
9 dehydration 58 Very frequent (99-80%)
10 vomiting 58 Very frequent (99-80%)
11 hypoglycemia 31 HP:0001943
12 acne 58 Frequent (79-30%)
13 reduced bone mineral density 58 Very frequent (99-80%)
14 osteoporosis 58 Very frequent (99-80%)
15 obesity 58 Frequent (79-30%)
16 polycystic ovaries 58 Very frequent (99-80%)
17 decreased fertility 58 Very frequent (99-80%)
18 hyponatremia 58 Very frequent (99-80%)
19 hypospadias 31 HP:0000047
20 generalized hyperpigmentation 58 Frequent (79-30%)
21 hyperkalemia 58 Very frequent (99-80%)
22 ambiguous genitalia 58 Frequent (79-30%)
23 enlarged polycystic ovaries 58 Very frequent (99-80%)
24 clitoromegaly 58 Frequent (79-30%)
25 primary adrenal insufficiency 58 Very frequent (99-80%)
26 abnormality of the vagina 58 Frequent (79-30%)
27 neonatal hypoglycemia 58 Very frequent (99-80%)
28 accelerated skeletal maturation 58 Very frequent (99-80%)
29 urogenital sinus anomaly 58 Frequent (79-30%)
30 feeding difficulties 58 Very frequent (99-80%)
31 long penis 58 Frequent (79-30%)
32 insulin resistance 58 Occasional (29-5%)
33 premature adrenarche 58 Very frequent (99-80%)
34 aortic root aneurysm 58 Frequent (79-30%)
35 aggressive behavior 58 Occasional (29-5%)
36 hirsutism 58 Very frequent (99-80%)
37 decreased fertility in males 58 Frequent (79-30%)
38 recurrent fever 31 HP:0001954
39 female pseudohermaphroditism 58 Occasional (29-5%)
40 irregular menstruation 58 Very frequent (99-80%)
41 abnormal scrotal rugation 58 Frequent (79-30%)
42 decreased circulating aldosterone level 58 Very frequent (99-80%)
43 adrenal hyperplasia 31 HP:0008221
44 adrenocortical adenoma 58 Occasional (29-5%)
45 decreased fertility in females 58 Frequent (79-30%)
46 elevated circulating follicle stimulating hormone level 58 Very frequent (99-80%)
47 elevated circulating luteinizing hormone level 58 Very frequent (99-80%)
48 hypovolemia 58 Very frequent (99-80%)
49 ambiguous genitalia, female 58 Frequent (79-30%)
50 abnormal spermatogenesis 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
3
Racepinephrine Approved Phase 2 329-65-7 838
4
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
5
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
6
Fludrocortisone Approved, Investigational Phase 2 127-31-1 31378
7
Abiraterone acetate Phase 2 154229-18-2 57336518
8 Hormone Antagonists Phase 2
9 Hormones Phase 2
10 Cytochrome P-450 Enzyme Inhibitors Phase 2
11 Epinephryl borate Phase 2
12 Hydrocortisone 17-butyrate 21-propionate Phase 2
13 Hydrocortisone hemisuccinate Phase 2
14 Anti-Inflammatory Agents Phase 2
15 Androgens Phase 2
16 11-hydroxyprogesterone Phase 2
17 17 alpha-Hydroxyprogesterone Caproate Phase 2
18
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
19
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
20
Cosyntropin Approved 16960-16-0 16129617
21 insulin
22 Insulin, Globin Zinc

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Pediatric Subjects With Classic Congenital Adrenal Hyperplasia, Followed by Open-Label Treatment Recruiting NCT04806451 Phase 3 Crinecerfont;Placebo;Crinecerfont
2 A Phase 2, Multicenter Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
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 A Phase 1, Open-Label, Single-Dose, Sequential Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
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 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
10 Evaluation of Cardiovascular Risk Profile in Adult Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency Diagnosed During Childhood Completed NCT01807364
11 Modifier Genes in 21-Hydroxylase Deficiency Completed NCT00542841

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

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

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

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

40
Bone, Testes, Cortex, Ovary, Adrenal Cortex, Pituitary, 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 2193)
# 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. 61 57 6 25
12915679 2003
2
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients. 61 6 57
18381579 2008
3
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors. 57 6 61
9661649 1998
4
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan. 6 61 57
9215318 1997
5
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency. 61 6 57
8989258 1997
6
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. 61 57 6
8968761 1996
7
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 57 6 61
1644925 1992
8
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 25 6 61
23359698 2013
9
Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. 61 57 25
17456574 2007
10
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes. 25 57 61
12384784 2002
11
Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency. 61 25 57
11070100 2000
12
Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. 61 57 25
10720040 2000
13
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 61 25 57
10084573 1999
14
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. 25 57 61
9512201 1998
15
Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. 61 25 57
7479886 1995
16
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. 61 25 6
3260033 1988
17
High frequency of nonclassical steroid 21-hydroxylase deficiency. 61 57 25
9556656 1985
18
An unusually high incidence of salt-losing congenital adrenal hyperplasia in the Alaskan Eskimo. 6 57
5804199 1969
19
Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. 6 25
2845408 1988
20
Structure of human steroid 21-hydroxylase genes. 57 25
3487786 1986
21
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. 25 57
3486422 1986
22
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. 57 61
32966723 2020
23
Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians. 61 57
28541281 2017
24
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. 6 61
26184415 2015
25
131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency. 61 6
25121463 2014
26
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients. 61 6
25227725 2014
27
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene. 61 6
24667412 2014
28
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. 6 61
24077358 2013
29
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center. 61 6
24904866 2013
30
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. 6 61
23769969 2013
31
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation. 61 6
23142378 2013
32
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone. 61 6
22313422 2012
33
Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman. 6 61
22270556 2012
34
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia. 61 6
21609351 2011
35
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 61 6
21098686 2011
36
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 6 61
20926536 2011
37
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease. 6 61
20661889 2010
38
No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency. 61 6
20233785 2010
39
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction. 6 61
18445671 2008
40
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency. 61 6
18319307 2008
41
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency. 57 61
17878254 2007
42
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 61 57
17275379 2007
43
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia. 6 61
17119906 2007
44
Reduced bone mineral density and increased bone metabolism rate in young adult patients with 21-hydroxylase deficiency. 61 57
16926248 2006
45
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions. 61 6
16427797 2006
46
Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population. 61 57
15572419 2005
47
Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates. 61 57
15579762 2004
48
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. 57 61
15292289 2004
49
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. 6 61
15126570 2004
50
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation. 61 6
14715874 2004

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

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

6 (show top 50) (show all 144)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) SNV Pathogenic 12150 rs6475 GRCh37: 6:32007203-32007203
GRCh38: 6:32039426-32039426
2 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) SNV Pathogenic 12151 rs6471 GRCh37: 6:32007887-32007887
GRCh38: 6:32040110-32040110
3 TNXB , LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) SNV Pathogenic 12152 rs7769409 GRCh37: 6:32008312-32008312
GRCh38: 6:32040535-32040535
4 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) SNV Pathogenic 12153 rs9378251 GRCh37: 6:32006291-32006291
GRCh38: 6:32038514-32038514
5 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.293-13C>G SNV Pathogenic 12155 rs6467 GRCh37: 6:32006858-32006858
GRCh38: 6:32039081-32039081
6 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) SNV Pathogenic 12156 rs201552310 GRCh37: 6:32007917-32007917
GRCh38: 6:32040140-32040140
7 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) Indel Pathogenic 12157 rs397509367 GRCh37: 6:32008874-32008875
GRCh38: 6:32041097-32041098
8 CYP21A2 -4C-T, PRO105LEU, AND PRO453SER SNV Pathogenic 12158 GRCh37:
GRCh38:
9 CYP21A2 CYP21A2, 30-KB DEL Deletion Pathogenic 12160 GRCh37:
GRCh38:
10 CYP21A2 CYP21A2, GENE CONVERSION CYP21 FROM CYP21P Variation Pathogenic 12161 GRCh37:
GRCh38:
11 LOC106780800 , CYP21A2 NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) Deletion Pathogenic 12164 rs387906510 GRCh37: 6:32006910-32006917
GRCh38: 6:32039133-32039140
12 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) SNV Pathogenic 31662 rs12530380 GRCh37: 6:32007587-32007587
GRCh38: 6:32039810-32039810
13 CYP21A2 CYP21A2, IVS7DS, G-C, +1 SNV Pathogenic 12168 GRCh37:
GRCh38:
14 TNXB , LOC106780800 , CYP21A2 NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) SNV Pathogenic 12169 rs6445 GRCh37: 6:32008198-32008198
GRCh38: 6:32040421-32040421
15 CYP21A2 CYP21A2, ARG339HIS AND PRO453SER SNV Pathogenic 12170 GRCh37:
GRCh38:
16 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter) SNV Pathogenic 12171 rs151344503 GRCh37: 6:32008543-32008543
GRCh38: 6:32040766-32040766
17 CYP21A2 CYP21A2, GLU380ASP Variation Pathogenic 12172 GRCh37:
GRCh38:
18 CYP21A2 CYP21A2, GLY424SER Variation Pathogenic 12174 GRCh37:
GRCh38:
19 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His) SNV Pathogenic 12175 rs151344504 GRCh37: 6:32008703-32008703
GRCh38: 6:32040926-32040926
20 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.85dup (p.His29fs) Duplication Pathogenic 12176 rs1582299448 GRCh37: 6:32006282-32006283
GRCh38: 6:32038505-32038506
21 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.293-2A>G SNV Pathogenic 12177 rs1582302625 GRCh37: 6:32006869-32006869
GRCh38: 6:32039092-32039092
22 CYP21A2 CYP21A2, 1-BP INS, 1003A Insertion Pathogenic 12178 GRCh37:
GRCh38:
23 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) SNV Pathogenic 12179 rs72552757 GRCh37: 6:32008648-32008648
GRCh38: 6:32040871-32040871
24 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu) SNV Pathogenic 65610 rs6471 GRCh37: 6:32007887-32007887
GRCh38: 6:32040110-32040110
25 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) Duplication Pathogenic 65611 rs267606756 GRCh37: 6:32007959-32007960
GRCh38: 6:32040182-32040183
26 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) SNV Pathogenic 65613 rs12530380 GRCh37: 6:32007587-32007587
GRCh38: 6:32039810-32039810
27 CYP21A2 NM_000500.7:c.*28697972C>G SNV Pathogenic 189131 GRCh37:
GRCh38:
28 CYP21A2 NM_000500.7:c.*28698317T>A SNV Pathogenic 189132 GRCh37:
GRCh38:
29 CYP21A2 NM_000500.7:c.*28699001G>T SNV Pathogenic 189133 GRCh37:
GRCh38:
30 CYP21A2 NM_000500.7:c.*28697405C>T SNV Pathogenic 189134 GRCh37:
GRCh38:
31 CYP21A2 NM_000500.7:c.*28699312C>T SNV Pathogenic 189135 GRCh37:
GRCh38:
32 CYP21A2 NM_000500.7:c.*28699426C>T SNV Pathogenic 189136 GRCh37:
GRCh38:
33 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) SNV Pathogenic 12150 rs6475 GRCh37: 6:32007203-32007203
GRCh38: 6:32039426-32039426
34 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) SNV Pathogenic 12150 rs6475 GRCh37: 6:32007203-32007203
GRCh38: 6:32039426-32039426
35 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) SNV Pathogenic 18452 rs267606757 GRCh37: 6:32006939-32006939
GRCh38: 6:32039162-32039162
36 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1118+2T>C SNV Pathogenic 997808 GRCh37: 6:32008363-32008363
GRCh38: 6:32040586-32040586
37 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.259del (p.Ala87fs) Deletion Pathogenic 1033057 GRCh37: 6:32006553-32006553
GRCh38: 6:32038776-32038776
38 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter) SNV Pathogenic 1033058 GRCh37: 6:32007387-32007387
GRCh38: 6:32039610-32039610
39 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) SNV Pathogenic 12159 rs6445 GRCh37: 6:32008783-32008783
GRCh38: 6:32041006-32041006
40 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.293-13C>A SNV Pathogenic 196278 rs6467 GRCh37: 6:32006858-32006858
GRCh38: 6:32039081-32039081
41 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) SNV Pathogenic 800622 rs1582304536 GRCh37: 6:32007210-32007210
GRCh38: 6:32039433-32039433
42 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) SNV Pathogenic 800621 rs1582304457 GRCh37: 6:32007194-32007194
GRCh38: 6:32039417-32039417
43 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser) SNV Pathogenic 800602 rs1582312633 GRCh37: 6:32008714-32008714
GRCh38: 6:32040937-32040937
44 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter) SNV Pathogenic 800601 rs1367112998 GRCh37: 6:32008695-32008695
GRCh38: 6:32040918-32040918
45 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) SNV Pathogenic 596309 rs776989258 GRCh37: 6:32008870-32008870
GRCh38: 6:32041093-32041093
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.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) Indel Pathogenic 189145 rs786204728 GRCh37: 6:32007584-32007593
GRCh38: 6:32039807-32039816
48 CYP21A2 NM_000500.7:c.*28698024_*28698031del8 Deletion Pathogenic 189142 GRCh37:
GRCh38:
49 CYP21A2 NM_000500.5:c.293-13A>G(659A>G) Variation Pathogenic 65606 GRCh37:
GRCh38:
50 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1126G>A (p.Gly376Ser) SNV Pathogenic 12181 rs151344506 GRCh37: 6:32008452-32008452
GRCh38: 6:32040675-32040675

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

72 (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 rs133055473
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 rs141343342
48 CYP21A2 p.Ile77Thr VAR_065669 rs133327822
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...

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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29 GTR
30 HMDB
31 HPO
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57 OMIM® (Updated 20-May-2021)
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