MCID: ADR042
MIFTS: 52

Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Fetal 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 53 49 13
21-Hydroxylase Deficiency 53 38 72 49 24 28 69
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 72 49 71
Congenital Adrenal Hyperplasia 1 53 24 71
Cyp21 Deficiency 53 49 24
Cah1 53 24 71
Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 53 28
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 38 23
21 Hydroxylase Deficiency 72 49
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 55
Hyperandrogenism Nonclassic Type Due to 21-Hydroxylase Deficiency 71
Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency 24
Congenital Adrenal Hyperplasia 1; Cah1 53
Virilizing Adrenal Hyperplasia 23
Adrenal Hyperplasia Type Iii 71
Adrenal Hyperplasia Iii 53
Adrenal Hyperplasia 3 71
Classic 21-Ohd Cah 55
21-Ohd Cah 23
Ah-Iii 71
Ah3 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 53 201910
Orphanet 55 ORPHA90794
UMLS via Orphanet 70 C2936858
ICD10 via Orphanet 33 E25.0
MeSH 41 D000312
UMLS 69 C0852654

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

OMIM : 53 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, and has symptoms including hypertension, gynecomastia and renal salt wasting. 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 Estradiol and Drospirenone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and kidney.

UniProtKB/Swiss-Prot : 71 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).

NIH Rare Diseases : 49 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. Last updated: 2/22/2010

Genetics Home Reference : 24 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.

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 59)
# Related Disease Score Top Affiliating Genes
1 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.3
2 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.3
3 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 12.0
4 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 12.0
5 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 11.0
6 lipoid congenital adrenal hyperplasia 10.9
7 infertility 10.2
8 hyperandrogenism 10.1
9 aging 10.1
10 adrenal rest tumor 10.0
11 body mass index quantitative trait locus 11 10.0
12 body mass index quantitative trait locus 9 10.0
13 body mass index quantitative trait locus 8 10.0
14 body mass index quantitative trait locus 7 10.0
15 body mass index quantitative trait locus 12 10.0
16 body mass index quantitative trait locus 14 10.0
17 body mass index quantitative trait locus 18 10.0
18 turner syndrome 10.0
19 pseudohermaphroditism 10.0
20 adenoma 10.0
21 androgen insensitivity syndrome 9.9
22 lymphangioma 9.9
23 cystic lymphangioma 9.9
24 osteoporosis 9.9
25 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 9.9
26 body mass index quantitative trait locus 4 9.9
27 body mass index quantitative trait locus 10 9.9
28 bone mineral density quantitative trait locus 8 9.9
29 bone mineral density quantitative trait locus 15 9.9
30 male infertility 9.9
31 glucocorticoid-induced osteoporosis 9.9
32 ovarian disease 9.9
33 infant gynecomastia 9.9
34 gynecomastia 9.9
35 ovarian cyst 9.9
36 cytochrome p450 oxidoreductase deficiency 9.9
37 precocious puberty 9.9
38 streptococcal group a invasive disease 9.9
39 adrenocortical carcinoma, hereditary 9.7
40 neuroblastoma 9.7
41 46,xy sex reversal 3 9.7
42 aromatase deficiency 9.7
43 keratoconus 9.7
44 polycystic ovary syndrome 9.7
45 lymphoma 9.7
46 hypospadias 9.7
47 pyloric stenosis 9.7
48 gonadal dysgenesis 9.7
49 mixed gonadal dysgenesis 9.7
50 sex differentiation disease 9.7

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:

53
Metabolic:
hypertension
hypoglycemia
salt-wasting
recurrent fever

Endo:
adrenogenital syndrome
virilization

Thorax:
gynecomastia in adults

GU:
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:

55 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 55 31 Frequent (79-30%) HP:0000822
2 gynecomastia 55 31 Occasional (29-5%) HP:0000771
3 renal salt wasting 55 31 Occasional (29-5%) HP:0000127
4 adrenogenital syndrome 55 31 Very frequent (99-80%) HP:0000840
5 fever 31 HP:0001945
6 vomiting 55 Very frequent (99-80%)
7 obesity 55 Frequent (79-30%)
8 intellectual disability 55 Occasional (29-5%)
9 failure to thrive 55 Occasional (29-5%)
10 hypotension 55 Very frequent (99-80%)
11 short stature 55 Very frequent (99-80%)
12 dehydration 55 Very frequent (99-80%)
13 osteoporosis 55 Very frequent (99-80%)
14 hypoglycemia 31 HP:0001943
15 feeding difficulties 55 Very frequent (99-80%)
16 abnormality of the thorax 31 HP:0000765
17 acne 55 Frequent (79-30%)
18 reduced bone mineral density 55 Very frequent (99-80%)
19 primary adrenal insufficiency 55 Very frequent (99-80%)
20 hypospadias 31 HP:0000047
21 polycystic ovaries 55 Very frequent (99-80%)
22 decreased fertility 55 Very frequent (99-80%)
23 hyponatremia 55 Very frequent (99-80%)
24 adrenocortical adenoma 55 Occasional (29-5%)
25 aggressive behavior 55 Occasional (29-5%)
26 long penis 55 Frequent (79-30%)
27 female pseudohermaphroditism 55 Occasional (29-5%)
28 ambiguous genitalia 55 Frequent (79-30%)
29 abnormality of the vagina 55 Frequent (79-30%)
30 enlarged polycystic ovaries 55 Very frequent (99-80%)
31 generalized hyperpigmentation 55 Frequent (79-30%)
32 abnormal spermatogenesis 55 Frequent (79-30%)
33 neonatal hypoglycemia 55 Very frequent (99-80%)
34 accelerated skeletal maturation 55 Very frequent (99-80%)
35 urogenital sinus anomaly 55 Frequent (79-30%)
36 clitoromegaly 55 Frequent (79-30%)
37 increased circulating renin level 55 Very frequent (99-80%)
38 abnormality of prenatal development or birth 55 Frequent (79-30%)
39 acidosis 55 Very frequent (99-80%)
40 hyperkalemia 55 Very frequent (99-80%)
41 decreased circulating aldosterone level 55 Very frequent (99-80%)
42 increased circulating acth level 55 Very frequent (99-80%)
43 hypernatriuria 55 Very frequent (99-80%)
44 decreased circulating cortisol level 55 Very frequent (99-80%)
45 elevated follicle stimulating hormone 55 Very frequent (99-80%)
46 hypovolemia 55 Very frequent (99-80%)
47 adrenocorticotropic hormone excess 55 Frequent (79-30%)
48 elevated luteinizing hormone 55 Very frequent (99-80%)
49 decreased fertility in females 55 Frequent (79-30%)
50 decreased fertility in males 55 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 top 50) (show all 184)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 50-28-2 5757
2
Drospirenone Approved Phase 4 67392-87-4 68873
3
Cyproterone Acetate Approved, Investigational Phase 4,Not Applicable 427-51-0
4
Ethinyl Estradiol Approved Phase 4,Phase 2,Not Applicable 57-63-6 5991
5
Metformin Approved Phase 4,Phase 3,Phase 2,Not Applicable 657-24-9 4091 14219
6
leucovorin Approved, Nutraceutical Phase 4,Not Applicable 58-05-9 143 6006
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 59-30-3 6037
8 Estradiol valerate Phase 4,Phase 2,Not Applicable 979-32-8
9
Cyproterone Phase 4,Not Applicable 2098-66-0 5284537
10 diuretics Phase 4,Not Applicable
11 Mineralocorticoid Receptor Antagonists Phase 4,Phase 3,Not Applicable
12 Mineralocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
13 Natriuretic Agents Phase 4,Not Applicable
14 Contraceptive Agents Phase 4,Phase 2,Not Applicable
15 Contraceptive Agents, Male Phase 4,Not Applicable
16 Contraceptives, Oral Phase 4,Phase 2,Not Applicable
17 Contraceptives, Oral, Combined Phase 4,Phase 2,Not Applicable
18 Hemostatics Phase 4
19 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
20 Androgen Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
21 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
23 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
24 Diuretics, Potassium Sparing Phase 4,Not Applicable
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
26 Drospirenone and ethinyl estradiol combination Phase 4
27 Estradiol 17 beta-cypionate Phase 4,Phase 2,Not Applicable
28 Estradiol 3-benzoate Phase 4,Phase 2,Not Applicable
29 Estrogens Phase 4,Phase 3,Phase 2,Not Applicable
30 Polyestradiol phosphate Phase 4,Phase 2,Not Applicable
31 Protective Agents Phase 4,Not Applicable
32 Antioxidants Phase 4,Not Applicable
33 Micronutrients Phase 4,Not Applicable
34 Follicle Stimulating Hormone Phase 4
35 Trace Elements Phase 4,Not Applicable
36 Hematinics Phase 4,Not Applicable
37 Vitamin B Complex Phase 4,Not Applicable
38 Vitamins Phase 4,Not Applicable
39 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
40 Calcium, Dietary Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
41 Folate Nutraceutical Phase 4,Not Applicable
42 Vitamin B9 Nutraceutical Phase 4,Not Applicable
43
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 50-02-2 5743
44
Epinephrine Approved, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-43-4 5816
45
Hydrocortisone Approved, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-23-7 657311 5754
46
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
47 Racepinephrine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 329-65-7
48
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
49
Ethanol Approved Phase 3 64-17-5 702
50
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 94)

# Name Status NCT ID Phase Drugs
1 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4 20 mcg ethinylestradiol /3 mg drospirenone;20 mcg ethinylestradiol/3 mg drospirenone and Selmevit;30 mcg ethinylestradiol/3 mg drospirenone;30 mcg ethinylestradiol/3 mg drospirenone and Selmevit;35 mcg ethinylestradiol/2 mg cyproterone;35 mcg ethinylestradiol/2 mg cyproterone and Selmevit
2 Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation Unknown status NCT01103518 Phase 4 Ethinyl Estradiol + Cyproterone acetate
3 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4 3 mg DRSP/20 μg EE
4 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4 Metformin;Ethynyl-estradiol plus cyproterone acetate
5 Ovarian Response to Recombinant Follicle Stimulating Hormone in Women With PCOS Recruiting NCT03252223 Phase 4 Recombinant Follicle Stimulating Hormone
6 COrticosteroid in Congenital Adrenal Hyperplasia Unknown status NCT02552251 Phase 2, Phase 3
7 SPARTACUS: Subtyping Primary Aldosteronism: a Randomized Trial Comparing Adrenal Vein Sampling and Computed Tomography Scan. Completed NCT01096654 Phase 3
8 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3 doxycycline
9 The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or Anovulatory Women Completed NCT00413179 Phase 3 Metformin;Clomiphene citrate;Placebo
10 Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia Recruiting NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
11 A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH Recruiting NCT03062280 Phase 3 Hydrocortisone
12 Adrenal Artery Ablation Treats Primary Aldosteronism Recruiting NCT03398785 Phase 3
13 Extension Study for Patients Entered Into Study Infacort 003 Active, not recruiting NCT02733367 Phase 3 Infacort®
14 Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
15 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
16 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
17 Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH Completed NCT01735617 Phase 2 Hydrocortisone Modified Release Capsules
18 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
19 Treatment of Hyperandrogenism Versus Insulin Resistance in Infertile Polycystic Ovary Syndrome (PCOS) Women Completed NCT00704912 Phase 2 Orlistat/Meal Replacement/Lifestyle Modification;Loestrin 1/20;Combination of treatments
20 Phase II Randomized Study of Leuprolide Vs Oral Contraceptive Therapy Vs Leuprolide and Oral Contraceptive Therapy for Ovarian Hyperandrogenism Completed NCT00004763 Phase 2 leuprolide;Ethinyl estradiol/norethindrone
21 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Recruiting NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
22 Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia Recruiting NCT03257462 Phase 2 SPR001
23 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Recruiting NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
24 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting NCT02468193 Phase 2 Osilodrostat
25 Acupuncture or Metformin for Insulin Resistance in Women With PCOS Recruiting NCT02647827 Phase 2 Metformin
26 Androgen Excess as a Mechanism for Adipogenic Dysfunction in PCOS Women Recruiting NCT01889199 Phase 2 Flutamide
27 A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Active, not recruiting NCT02804178 Phase 2 ATR-101
28 Metformine and CC Compared With Placebo and CC for Induction Ovulation in PCOS Patients With Insulin Resistant Enrolling by invitation NCT02523898 Phase 2 metformine;placebo;clomiphene citrate
29 A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
30 Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia Completed NCT00001521 Phase 1 Flutamide and Testolactone;Deslorelin
31 An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone Completed NCT03019614 Phase 1 Hydrocortisone;Chronocort
32 A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations Completed NCT03051893 Phase 1 Chronocort
33 Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1 Recruiting NCT02574910 Phase 1 Abiraterone acetate
34 Time Course of Waking Versus Sleep-associated Luteinizing Hormone (LH) Pulse Frequency Suppression in Response to Progesterone in Late Pubertal Girls With and Without Hyperandrogenemia Recruiting NCT00929006 Phase 1 Micronized progesterone suspension;Placebo
35 Suppression of Daytime and Nighttime Luteinizing Hormone Frequency by Progesterone Recruiting NCT01428089 Phase 1 Progesterone;Placebo
36 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
37 Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers Unknown status NCT00617292
38 Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia Unknown status NCT00694525
39 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510 Not Applicable
40 Ultrasound Three-dimensional Characterization of Ovarian Morphology in Women With Polycystic Ovary Syndrome (PCOS) Unknown status NCT02402413 Not Applicable
41 Meal Timing on Glucose and Hyperandrogenism in PCOS Women Unknown status NCT01711476 Not Applicable
42 Meal Timing on Glucose Metabolism and Hyperandrogenism in Lean Women With Polycystic Ovary Syndrome Unknown status NCT01569425 Not Applicable
43 Whole Genome Analysis for the Detection of Key Genes in the Polycystic Ovary Syndrome Unknown status NCT00665171
44 Examining Genetic Differences Among People With 21-Hydroxylase Deficiency Completed NCT00542841
45 Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia Completed NCT01807364
46 Tweens to Teens Project at Penn State Completed NCT01184651
47 Intestinal Microbiota Survey of Polycystic Ovary Syndrome Completed NCT02937090
48 Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
49 Growth Hormone (GH) in Congenital Adrenal Hyperplasia Completed NCT03162172
50 Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia Completed NCT00529841 Not Applicable Hydrocortisone sodium acetate

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 28 CYP21A2
2 Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 28

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

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

38
Adrenal Gland, Skin, Kidney, Cortex, Adrenal Cortex, Ovary, Bone

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 636)
# Title Authors Year
1
Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency. ( 29252197 )
2018
2
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
3
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults. ( 28073127 )
2017
4
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism. ( 28669219 )
2017
5
CYP21A2 intronic variants causing 21-hydroxylase deficiency. ( 28521877 )
2017
6
Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations. ( 28415939 )
2017
7
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
8
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS. ( 26919651 )
2016
9
Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China. ( 27054598 )
2016
10
Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. ( 27380651 )
2016
11
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. ( 27041116 )
2016
12
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
13
Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency. ( 26970786 )
2016
14
21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations. ( 26804566 )
2016
15
Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 27185866 )
2016
16
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 27104172 )
2016
17
A Single Nucleotide Variant in the Promoter Region of 17I^-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency. ( 27082632 )
2016
18
[Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency]. ( 27984606 )
2016
19
[Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China]. ( 26903061 )
2016
20
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria. ( 26535179 )
2015
21
Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency. ( 25850025 )
2015
22
Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children. ( 25736066 )
2015
23
Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. ( 25685584 )
2015
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. ( 26184415 )
2015
25
Clinical outcome, hormonal status, gonadotrope axis and testicular function in 219 adult men born with classic 21-hydroxylase deficiency. A French national survey. ( 25822101 )
2015
26
The balance of cortisol-cortisone interconversion is shifted towards cortisol in neonates with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 24861266 )
2014
27
Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital. ( 25045882 )
2014
28
Mitotane for 21-hydroxylase deficiency in an infertile man. ( 25409392 )
2014
29
Unexplained infertility: increased risk for 21-hydroxylase-deficiency in parents and offspring? ( 25306100 )
2014
30
High frequency of splice site mutation in 21-hydroxylase deficiency children. ( 25501839 )
2014
31
Evaluation of impact of steroid replacement treatment on bone health in children with 21-hydroxylase deficiency. ( 24981037 )
2014
32
Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4A years of age. ( 24818525 )
2014
33
A feminizing adrenocortical carcinoma in the context of a late onset 21-hydroxylase deficiency. ( 24654754 )
2014
34
Bilateral adrenal incidentaloma caused by 21-hydroxylase deficiency in an adult. ( 25178648 )
2014
35
131I-Noriodocholesterol Uptake by Testicular Adrenal Rest Tumors in a Patient With Classical 21-Hydroxylase Deficiency. ( 25121463 )
2014
36
LC-MS/MS improves screening towards 21-hydroxylase deficiency. ( 25539143 )
2014
37
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 25279502 )
2014
38
Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency. ( 24503005 )
2014
39
Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 25364676 )
2014
40
A Retrospective Analysis of the Growth Pattern in Patients with Salt-wasting 21-Hydroxylase Deficiency. ( 24790384 )
2014
41
Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 24862755 )
2014
42
[Analysis of CYP21A2 gene mutations in two families with 21-hydroxylase deficiency]. ( 24928004 )
2014
43
Naltrexone as a diagnostic tool to distinguish between hyperandrogenemic and hypothalamic ovarian failure in females with congenital adrenal hyperplasia due to 21-hydroxylase-deficiency (CAH). ( 25065344 )
2014
44
Functional and structural analysis of four novel mutations of CYP21A2 gene in italian patients with 21-hydroxylase deficiency. ( 24799024 )
2014
45
Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency. ( 25230321 )
2014
46
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency. ( 24780050 )
2014
47
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center. ( 24904866 )
2013
48
High dickkopf-1 levels in sera and leukocytes from children with 21-hydroxylase deficiency on chronic glucocorticoid treatment. ( 23299503 )
2013
49
Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 24302749 )
2013
50
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome. ( 23732434 )
2013

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

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

71 (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 all 41)
# 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.844G> T (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh37 Chromosome 6, 32007887: 32007887
3 CYP21A2 NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs9378251 GRCh37 Chromosome 6, 32006291: 32006291
4 CYP21A2 NM_000500.7(CYP21A2): c.293-13C> G single nucleotide variant Pathogenic rs6467 GRCh37 Chromosome 6, 32006858: 32006858
5 CYP21A2 NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs201552310 GRCh37 Chromosome 6, 32007917: 32007917
6 CYP21A2 NM_000500.7(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs) indel Pathogenic rs397509367 GRCh37 Chromosome 6, 32008874: 32008875
7 CYP21A2 -4C-T, PRO105LEU, AND PRO453SER single nucleotide variant Pathogenic
8 CYP21A2 NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser) single nucleotide variant Pathogenic rs6445 GRCh37 Chromosome 6, 32008783: 32008783
9 CYP21A2 CYP21A2, 30-KB DEL deletion Pathogenic
10 CYP21A2 CYP21A2, GENE CONVERSION CYP21 FROM CYP21P undetermined variant Pathogenic
11 CYP21A2 NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs) deletion Pathogenic rs387906510 GRCh37 Chromosome 6, 32006910: 32006917
12 CYP21A2 CYP21A2, IVS7DS, G-C, +1 single nucleotide variant Pathogenic
13 CYP21A2 CYP21A2, ARG339HIS AND PRO453SER single nucleotide variant Pathogenic
14 CYP21A2 NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter) single nucleotide variant Pathogenic rs151344503 GRCh37 Chromosome 6, 32008543: 32008543
15 CYP21A2 CYP21A2, GLU380ASP undetermined variant Pathogenic
16 CYP21A2 CYP21A2, GLY424SER undetermined variant Pathogenic
17 CYP21A2 CYP21A2, ARG426HIS undetermined variant Pathogenic
18 CYP21A2 CYP21A2, 1-BP INS, 82C insertion Pathogenic
19 CYP21A2 CYP21A2, IVS2, A-G, -2 single nucleotide variant Pathogenic
20 CYP21A2 CYP21A2, 1-BP INS, 1003A insertion Pathogenic
21 CYP21A2 CYP21A2, ARG408CYS undetermined variant Pathogenic
22 CYP21A2 CYP21A2, VAL304MET undetermined variant Pathogenic
23 CYP21A2 CYP21A2, GLY375SER undetermined variant Pathogenic
24 CYP21A2 NM_000500.7(CYP21A2): c.361A> C (p.Lys121Gln) single nucleotide variant Pathogenic rs267606757 GRCh37 Chromosome 6, 32006939: 32006939
25 CYP21A2 NM_000500.5: c.293-13A> G(659A> G) undetermined variant Pathogenic
26 CYP21A2 NM_000500.7(CYP21A2): c.844G> C (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh37 Chromosome 6, 32007887: 32007887
27 CYP21A2 NM_000500.7(CYP21A2): c.923dupT (p.Leu308Phefs) duplication Pathogenic rs267606756 GRCh37 Chromosome 6, 32007966: 32007966
28 CYP21A2 NM_000500.7(CYP21A2): c.710_719delTCGTGGAGATinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) indel Pathogenic rs786204728 GRCh38 Chromosome 6, 32039807: 32039816
29 CYP21A2 NM_000500.7: c.*28697972C> G single nucleotide variant Pathogenic
30 CYP21A2 NM_000500.7: c.*28698317T> A single nucleotide variant Pathogenic
31 CYP21A2 NM_000500.7: c.*28699001G> T single nucleotide variant Pathogenic
32 CYP21A2 NM_000500.7: c.*28697405C> T single nucleotide variant Pathogenic
33 CYP21A2 NM_000500.7: c.*28699312C> T single nucleotide variant Pathogenic
34 CYP21A2 NM_000500.7: c.*28699426C> T single nucleotide variant Pathogenic
35 CYP21A2 NM_000500.7: c.*28699080dupT duplication Likely pathogenic
36 CYP21A2 NM_000500.7: c.*28698024_*28698031del8 deletion Pathogenic
37 CYP21A2 NM_000500.7(CYP21A2): c.1174G> A (p.Ala392Thr) single nucleotide variant Likely pathogenic rs202242769 GRCh37 Chromosome 6, 32008500: 32008500
38 CYP21A2 NM_000500.7(CYP21A2): c.158_159delCT (p.Gln54Glufs) deletion Likely pathogenic rs886038207 GRCh37 Chromosome 6, 32006357: 32006358
39 CYP21A2 NM_000500.7(CYP21A2): c.274A> G (p.Arg92Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 32038793: 32038793
40 CYP21A2 NM_000500.7(CYP21A2): c.1118G> A (p.Ser373Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 32040584: 32040584
41 CYP21A2 NM_000500.7(CYP21A2): c.1136T> A (p.Ile379Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 32008462: 32008462

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...

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