AH3
MCID: ADR042
MIFTS: 52

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

Categories: Endocrine diseases, Fetal diseases, Genetic 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 53 13 40
21-Hydroxylase Deficiency 57 41 76 53 25 29 6 73
Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 57 29 6
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 76 53 75
Congenital Adrenal Hyperplasia 1 57 25 75
Cyp21 Deficiency 57 53 25
Cah1 57 25 75
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 41 24
21 Hydroxylase Deficiency 76 53
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 59
Hyperandrogenism Nonclassic Type Due to 21-Hydroxylase Deficiency 75
Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency 25
Congenital Adrenal Hyperplasia 1; Cah1 57
Virilizing Adrenal Hyperplasia 24
Adrenal Hyperplasia Type Iii 75
Adrenal Hyperplasia Iii 57
Adrenal Hyperplasia 3 75
Classic 21-Ohd Cah 59
21-Ohd Cah 24
Ah-Iii 75
Ah3 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive


HPO:

32
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 201910
Orphanet 59 ORPHA90794
UMLS via Orphanet 74 C2936858
ICD10 via Orphanet 34 E25.0
MeSH 44 D000312
UMLS 73 C0852654

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

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)

MalaCards based summary : Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency, also known as 21-hydroxylase deficiency, is related to classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and non-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 Hydrocortisone acetate and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, cortex and bone, and related phenotypes are hypertension and gynecomastia

Genetics Home Reference : 25 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.

NIH Rare Diseases : 53 21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods, no periods, and fertility problems in older girls and women; early development of masculine features in boys; and shorter than average adult height, acne, and blood pressure problems.

UniProtKB/Swiss-Prot : 75 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 : 76 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts... 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 all 48)
# Related Disease Score Top Affiliating Genes
1 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.5
2 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.5
3 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 12.1
4 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 12.1
5 lipoid congenital adrenal hyperplasia 11.2
6 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 11.1
7 infertility 10.3
8 hyperandrogenism 10.2
9 gynecomastia 10.1
10 turner syndrome 10.1
11 pseudohermaphroditism 10.1
12 adenoma 10.1
13 precocious puberty 10.1
14 osteoporosis 10.0
15 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 10.0
16 adrenocortical carcinoma, hereditary 10.0
17 male infertility 10.0
18 glucocorticoid-induced osteoporosis 10.0
19 ovarian disease 10.0
20 adrenal cortical adenocarcinoma 10.0
21 ovarian cyst 10.0
22 cytochrome p450 oxidoreductase deficiency 10.0
23 macrodactyly 10.0
24 androgen insensitivity syndrome 10.0
25 lymphangioma 10.0
26 cystic lymphangioma 10.0
27 neuroblastoma 9.9
28 aromatase deficiency 9.9
29 keratoconus 9.9
30 polycystic ovary syndrome 9.9
31 immunoglobulin alpha deficiency 9.9
32 lymphoma 9.9
33 hypospadias 9.9
34 infant gynecomastia 9.9
35 pyloric stenosis 9.9
36 gonadal dysgenesis 9.9
37 mixed gonadal dysgenesis 9.9
38 adrenal rest tumor 9.9
39 impotence 9.9
40 hyperinsulinism 9.9
41 leydig cell tumor 9.9
42 adrenal adenoma 9.9
43 hyperthyroidism 9.9
44 polycythemia 9.9
45 lymphosarcoma 9.9
46 hypopituitarism 9.9
47 central precocious puberty 9.9
48 encephalopathy 9.9

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...

Symptoms via clinical synopsis from OMIM:

57
Metabolic:
hypertension
hypoglycemia
salt-wasting
recurrent fever

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

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

59 32 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 Frequent (79-30%) HP:0000822
2 gynecomastia 59 32 Occasional (29-5%) HP:0000771
3 renal salt wasting 59 32 Occasional (29-5%) HP:0000127
4 adrenogenital syndrome 59 32 Very frequent (99-80%) HP:0000840
5 obesity 59 Frequent (79-30%)
6 intellectual disability 59 Occasional (29-5%)
7 failure to thrive 59 Occasional (29-5%)
8 hypotension 59 Very frequent (99-80%)
9 short stature 59 Very frequent (99-80%)
10 dehydration 59 Very frequent (99-80%)
11 fever 32 HP:0001945
12 vomiting 59 Very frequent (99-80%)
13 osteoporosis 59 Very frequent (99-80%)
14 hypoglycemia 32 HP:0001943
15 feeding difficulties 59 Very frequent (99-80%)
16 abnormality of the thorax 32 HP:0000765
17 acne 59 Frequent (79-30%)
18 reduced bone mineral density 59 Very frequent (99-80%)
19 primary adrenal insufficiency 59 Very frequent (99-80%)
20 hypospadias 32 HP:0000047
21 aggressive behavior 59 Occasional (29-5%)
22 polycystic ovaries 59 Very frequent (99-80%)
23 decreased fertility 59 Very frequent (99-80%)
24 hyponatremia 59 Very frequent (99-80%)
25 adrenocortical adenoma 59 Occasional (29-5%)
26 long penis 59 Frequent (79-30%)
27 female pseudohermaphroditism 59 Occasional (29-5%)
28 ambiguous genitalia 59 Frequent (79-30%)
29 abnormality of the vagina 59 Frequent (79-30%)
30 enlarged polycystic ovaries 59 Very frequent (99-80%)
31 generalized hyperpigmentation 59 Frequent (79-30%)
32 abnormal spermatogenesis 59 Frequent (79-30%)
33 neonatal hypoglycemia 59 Very frequent (99-80%)
34 accelerated skeletal maturation 59 Very frequent (99-80%)
35 urogenital sinus anomaly 59 Frequent (79-30%)
36 clitoromegaly 59 Frequent (79-30%)
37 increased circulating renin level 59 Very frequent (99-80%)
38 abnormality of prenatal development or birth 59 Frequent (79-30%)
39 acidosis 59 Very frequent (99-80%)
40 hyperkalemia 59 Very frequent (99-80%)
41 decreased circulating aldosterone level 59 Very frequent (99-80%)
42 increased circulating acth level 59 Very frequent (99-80%)
43 hypernatriuria 59 Very frequent (99-80%)
44 decreased circulating cortisol level 59 Very frequent (99-80%)
45 elevated follicle stimulating hormone 59 Very frequent (99-80%)
46 hypovolemia 59 Very frequent (99-80%)
47 adrenocorticotropic hormone excess 59 Frequent (79-30%)
48 elevated luteinizing hormone 59 Very frequent (99-80%)
49 decreased fertility in females 59 Frequent (79-30%)
50 decreased fertility in males 59 Frequent (79-30%)

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 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone acetate Approved, Vet_approved Phase 1, Phase 2,Phase 2,Not Applicable 50-03-3
2
Epinephrine Approved, Vet_approved Phase 1, Phase 2,Phase 2,Not Applicable 51-43-4 5816
3
Hydrocortisone Approved, Vet_approved Phase 1, Phase 2,Phase 2,Not Applicable 50-23-7 5754
4
Racepinephrine Approved Phase 1, Phase 2,Phase 2,Not Applicable 329-65-7 838
5
Zinc Approved, Investigational Phase 2 7440-66-6
6
Fludrocortisone Approved, Investigational Phase 2,Phase 1 127-31-1 31378
7 Hydrocortisone 17-butyrate 21-propionate Phase 1, Phase 2,Phase 2,Not Applicable
8 Anti-Inflammatory Agents Phase 1, Phase 2,Phase 2,Not Applicable
9 Hydrocortisone-17-butyrate Phase 1, Phase 2,Phase 2,Not Applicable
10 Epinephryl borate Phase 1, Phase 2,Phase 2,Not Applicable
11 Cortisol succinate Phase 1, Phase 2,Phase 2,Not Applicable
12 Hormones Phase 2,Phase 1,Not Applicable
13 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
14 Hormone Antagonists Phase 2,Phase 1,Not Applicable
15 glucocorticoids Phase 2,Not Applicable
16 Autonomic Agents Phase 2,Phase 1,Not Applicable
17 insulin Phase 2,Not Applicable
18 Insulin, Globin Zinc Phase 2,Not Applicable
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1,Not Applicable
20 Bronchodilator Agents Phase 2,Phase 1
21 Sympathomimetics Phase 2,Phase 1
22 Mydriatics Phase 2,Phase 1
23 Adrenergic beta-Agonists Phase 2,Phase 1
24 Adrenergic alpha-Agonists Phase 2,Phase 1
25 Neurotransmitter Agents Phase 2,Phase 1
26 Adrenergic Agents Phase 2,Phase 1
27 Adrenergic Agonists Phase 2,Phase 1
28 Respiratory System Agents Phase 2,Phase 1
29 Anti-Asthmatic Agents Phase 2,Phase 1
30 Hypoglycemic Agents Phase 2
31 Vasoconstrictor Agents Phase 2,Phase 1
32 Steroid Synthesis Inhibitors Phase 2,Phase 1
33
Abiraterone acetate Phase 2,Phase 1 154229-18-2 57336518
34 Androgens Phase 2,Phase 1
35 Cytochrome P-450 Enzyme Inhibitors Phase 2,Phase 1
36 11-hydroxyprogesterone Phase 2
37 17-alpha-hydroxy-progesterone caproate Phase 2
38
Dexamethasone acetate Approved, Investigational, Vet_approved ,Not Applicable 1177-87-3
39
Dexamethasone Approved, Investigational, Vet_approved ,Not Applicable 50-02-2 5743
40
Cosyntropin Approved Not Applicable 16960-16-0 16129617
41 Antineoplastic Agents, Hormonal ,Not Applicable
42 Antiemetics ,Not Applicable
43 HIV Protease Inhibitors ,Not Applicable
44
protease inhibitors ,Not Applicable
45 BB 1101 ,Not Applicable
46 Gastrointestinal Agents ,Not Applicable

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
2 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
3 A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
4 Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adults With Congenital Adrenal Hyperplasia Recruiting NCT03525886 Phase 2 NBI-74788
5 Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia Recruiting NCT03687242 Phase 2 SPR001
6 Androgen Reduction in Congenital Adrenal Hyperplasia Not yet recruiting NCT03548246 Phase 2 Abiraterone acetate;Placebo;Hydrocortisone;Fludrocortisone
7 A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
8 Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1 Recruiting NCT02574910 Phase 1 Abiraterone acetate
9 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
10 Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency. Unknown status NCT01862380 Not Applicable
11 Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers Unknown status NCT00617292
12 Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia Unknown status NCT00694525
13 Examining Genetic Differences Among People With 21-Hydroxylase Deficiency Completed NCT00542841 Not Applicable
14 Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia Completed NCT01807364
15 Tweens to Teens Project at Penn State Completed NCT01184651
16 Intestinal Microbiota Survey of Polycystic Ovary Syndrome Completed NCT02937090
17 Prenatal Dex Study Recruiting NCT02795871 Not Applicable
18 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

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 21-Hydroxylase Deficiency 29 CYP21A2
2 Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 29

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

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

41
Adrenal Gland, Cortex, Bone, Adrenal Cortex, Skin, Kidney, Ovary

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 903)
# Title Authors Year
1
CORRIGENDUM FOR "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline". ( 30407499 )
2019
2
Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency. ( 30036269 )
2019
3
Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency. ( 29252197 )
2018
4
Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. ( 29230843 )
2018
5
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa. ( 29429446 )
2018
6
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene. ( 29450859 )
2018
7
Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 29718004 )
2018
8
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany. ( 29884168 )
2018
9
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland. ( 30056407 )
2018
10
Birth Sizes of Neonates with Congenital Adrenal Hyperplasia Secondary to 21-Hydroxylase Deficiency. ( 30178749 )
2018
11
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. ( 30272171 )
2018
12
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 30465166 )
2018
13
Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency. ( 30470203 )
2018
14
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening. ( 28392195 )
2018
15
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan. ( 29455197 )
2018
16
Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up. ( 29531157 )
2018
17
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency. ( 29562581 )
2018
18
Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency. ( 29694951 )
2018
19
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China. ( 30048636 )
2018
20
Late onset adrenal insufficiency after adrenalectomy due to latent nonclassical 21-hydroxylase deficiency: A case report. ( 30113485 )
2018
21
Health problems of adolescent and adult patients with 21-hydroxylase deficiency. ( 30393437 )
2018
22
Assay of steroids by liquid chromatography-tandem mass spectrometry in monitoring 21-hydroxylase deficiency. ( 30530876 )
2018
23
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree. ( 29328376 )
2018
24
[Clinical report of testicular hypoplasia combined with 21-hydroxylase deficiency]. ( 29419855 )
2018
25
An AAVrh10-CAG-CYP21-HA vector allows persistent correction of 21-hydroxylase deficiency in a Cyp21<sup>-/-</sup>mouse model. ( 28165447 )
2017
26
Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height. ( 28672743 )
2017
27
Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. ( 28787274 )
2017
28
Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations. ( 28415939 )
2017
29
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism. ( 28669219 )
2017
30
Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes. ( 28759182 )
2017
31
CYP21A2 intronic variants causing 21-hydroxylase deficiency. ( 28521877 )
2017
32
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults. ( 28073127 )
2017
33
Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 28500827 )
2017
34
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women. ( 28582566 )
2017
35
Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes. ( 29369603 )
2017
36
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment. ( 28115464 )
2017
37
Assessment of early atherosclerosis and left ventricular dysfunction in children with 21-hydroxylase deficiency. ( 27905124 )
2017
38
Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study. ( 28149309 )
2017
39
Cardio-metabolic risk factors in youth with classical 21-hydroxylase deficiency. ( 28224294 )
2017
40
Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns. ( 28299309 )
2017
41
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency. ( 28472487 )
2017
42
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. ( 28785026 )
2017
43
Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study. ( 28945916 )
2017
44
The urinary steroidome of treated children with classic 21-hydroxylase deficiency. ( 27544322 )
2017
45
21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations. ( 26804566 )
2016
46
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. ( 27041116 )
2016
47
[Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency]. ( 27984606 )
2016
48
The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene. ( 26848581 )
2016
49
The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis. ( 26331608 )
2016
50
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 27104172 )
2016

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

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

75 (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
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
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
48 CYP21A2 p.Ile77Thr VAR_065669
49 CYP21A2 p.Leu107Arg VAR_065670 rs957886272
50 CYP21A2 p.Lys121Gln VAR_065671 rs547552654

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

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP21A2 NM_000500.7(CYP21A2): c.518T> A (p.Ile173Asn) single nucleotide variant Pathogenic rs6475 GRCh37 Chromosome 6, 32007203: 32007203
2 CYP21A2 NM_000500.7(CYP21A2): c.518T> A (p.Ile173Asn) single nucleotide variant Pathogenic rs6475 GRCh38 Chromosome 6, 32039426: 32039426
3 CYP21A2 NM_000500.7(CYP21A2): c.844G> T (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh37 Chromosome 6, 32007887: 32007887
4 CYP21A2 NM_000500.7(CYP21A2): c.844G> T (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh38 Chromosome 6, 32040110: 32040110
5 CYP21A2 NM_000500.7(CYP21A2): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs7769409 GRCh37 Chromosome 6, 32008312: 32008312
6 CYP21A2 NM_000500.7(CYP21A2): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs7769409 GRCh38 Chromosome 6, 32040535: 32040535
7 CYP21A2 NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs9378251 GRCh37 Chromosome 6, 32006291: 32006291
8 CYP21A2 NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs9378251 GRCh38 Chromosome 6, 32038514: 32038514
9 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh37 Chromosome 6, 32007849: 32007849
10 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh38 Chromosome 6, 32040072: 32040072
11 CYP21A2 NM_000500.7(CYP21A2): c.293-13C> G single nucleotide variant Pathogenic rs6467 GRCh37 Chromosome 6, 32006858: 32006858
12 CYP21A2 NM_000500.7(CYP21A2): c.293-13C> G single nucleotide variant Pathogenic rs6467 GRCh38 Chromosome 6, 32039081: 32039081
13 CYP21A2 NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs201552310 GRCh37 Chromosome 6, 32007917: 32007917
14 CYP21A2 NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs201552310 GRCh38 Chromosome 6, 32040140: 32040140
15 CYP21A2 NM_000500.9(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs) indel Pathogenic rs397509367 GRCh37 Chromosome 6, 32008874: 32008875
16 CYP21A2 NM_000500.9(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs) indel Pathogenic rs397509367 GRCh38 Chromosome 6, 32041097: 32041098
17 CYP21A2 -4C-T, PRO105LEU, AND PRO453SER single nucleotide variant Pathogenic
18 CYP21A2 NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser) single nucleotide variant Pathogenic rs6445 GRCh37 Chromosome 6, 32008783: 32008783
19 CYP21A2 NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser) single nucleotide variant Pathogenic rs6445 GRCh38 Chromosome 6, 32041006: 32041006
20 CYP21A2 CYP21A2, 30-KB DEL deletion Pathogenic
21 CYP21A2 CYP21A2, GENE CONVERSION CYP21 FROM CYP21P undetermined variant Pathogenic
22 CYP21A2 NM_000500.7(CYP21A2): c.28_30dupCTG (p.Leu10_Pro11insLeu) duplication Benign rs397515394 GRCh37 Chromosome 6, 32006227: 32006229
23 CYP21A2 NM_000500.7(CYP21A2): c.28_30dupCTG (p.Leu10_Pro11insLeu) duplication Benign rs397515394 GRCh38 Chromosome 6, 32038450: 32038452
24 CYP21A2 NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs) deletion Pathogenic rs387906510 GRCh37 Chromosome 6, 32006910: 32006917
25 CYP21A2 NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs) deletion Pathogenic rs387906510 GRCh38 Chromosome 6, 32039133: 32039140
26 CYP21A2 CYP21A2, IVS7DS, G-C, +1 single nucleotide variant Pathogenic
27 CYP21A2 NM_000500.7(CYP21A2): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic rs7755898 GRCh37 Chromosome 6, 32008198: 32008198
28 CYP21A2 NM_000500.7(CYP21A2): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic rs7755898 GRCh38 Chromosome 6, 32040421: 32040421
29 CYP21A2 CYP21A2, ARG339HIS AND PRO453SER single nucleotide variant Pathogenic
30 CYP21A2 NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter) single nucleotide variant Pathogenic rs151344503 GRCh37 Chromosome 6, 32008543: 32008543
31 CYP21A2 NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter) single nucleotide variant Pathogenic rs151344503 GRCh38 Chromosome 6, 32040766: 32040766
32 CYP21A2 CYP21A2, GLU380ASP undetermined variant Pathogenic
33 CYP21A2 NM_000500.7(CYP21A2): c.713T> A (p.Val238Glu) single nucleotide variant no interpretation for the single variant rs12530380 GRCh37 Chromosome 6, 32007587: 32007587
34 CYP21A2 NM_000500.7(CYP21A2): c.713T> A (p.Val238Glu) single nucleotide variant no interpretation for the single variant rs12530380 GRCh38 Chromosome 6, 32039810: 32039810
35 CYP21A2 CYP21A2, GLY424SER undetermined variant Pathogenic
36 CYP21A2 CYP21A2, ARG426HIS undetermined variant Pathogenic
37 CYP21A2 CYP21A2, 1-BP INS, 82C insertion Pathogenic
38 CYP21A2 CYP21A2, IVS2, A-G, -2 single nucleotide variant Pathogenic
39 CYP21A2 CYP21A2, 1-BP INS, 1003A insertion Pathogenic
40 CYP21A2 CYP21A2, ARG408CYS undetermined variant Pathogenic
41 CYP21A2 CYP21A2, VAL304MET undetermined variant Pathogenic
42 CYP21A2 CYP21A2, GLY375SER undetermined variant Pathogenic
43 CYP21A2 NM_000500.7(CYP21A2): c.188A> T (p.His63Leu) single nucleotide variant Benign rs9378252 GRCh38 Chromosome 6, 32038610: 32038610
44 CYP21A2 NM_000500.7(CYP21A2): c.188A> T (p.His63Leu) single nucleotide variant Benign rs9378252 GRCh37 Chromosome 6, 32006387: 32006387
45 CYP21A2 NM_000500.7(CYP21A2): c.361A> C (p.Lys121Gln) single nucleotide variant Pathogenic rs267606757 GRCh37 Chromosome 6, 32006939: 32006939
46 CYP21A2 NM_000500.7(CYP21A2): c.361A> C (p.Lys121Gln) single nucleotide variant Pathogenic rs267606757 GRCh38 Chromosome 6, 32039162: 32039162
47 CYP21A2 NM_000500.7(CYP21A2): c.710T> A (p.Ile237Asn) single nucleotide variant no interpretation for the single variant rs111647200 GRCh37 Chromosome 6, 32007584: 32007584
48 CYP21A2 NM_000500.7(CYP21A2): c.710T> A (p.Ile237Asn) single nucleotide variant no interpretation for the single variant rs111647200 GRCh38 Chromosome 6, 32039807: 32039807
49 CYP21A2 NM_000500.7(CYP21A2): c.719T> A (p.Met240Lys) single nucleotide variant no interpretation for the single variant rs6476 GRCh37 Chromosome 6, 32007593: 32007593
50 CYP21A2 NM_000500.7(CYP21A2): c.719T> A (p.Met240Lys) single nucleotide variant no interpretation for the single variant rs6476 GRCh38 Chromosome 6, 32039816: 32039816

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.

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

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