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 58 54 13 41
21-Hydroxylase Deficiency 58 42 77 54 26 74
Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 58 30 6
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 77 54 76
Congenital Adrenal Hyperplasia 1 58 26 76
Cyp21 Deficiency 58 54 26
Cah1 58 26 76
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 42 25
21 Hydroxylase Deficiency 77 54
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 60
Hyperandrogenism Nonclassic Type Due to 21-Hydroxylase Deficiency 76
Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency 26
Congenital Adrenal Hyperplasia 1; Cah1 58
Virilizing Adrenal Hyperplasia 25
Adrenal Hyperplasia Type Iii 76
Adrenal Hyperplasia Iii 58
Adrenal Hyperplasia 3 76
Classic 21-Ohd Cah 60
21-Ohd Cah 25
Ah-Iii 76
Ah3 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 201910
MeSH 45 D000312
ICD10 via Orphanet 35 E25.0
UMLS via Orphanet 75 C2936858
Orphanet 60 ORPHA90794
UMLS 74 C0852654

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

OMIM : 58 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 Estradiol and Ethinyl Estradiol have been mentioned in the context of this disorder. Affiliated tissues include ovary, adrenal gland and bone, and related phenotypes are hypertension and gynecomastia

Genetics Home Reference : 26 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 : 54 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 : 76 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 : 77 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 51)
# Related Disease Score Top Affiliating Genes
1 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.6
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 11.2
7 infertility 10.4
8 hyperandrogenism 10.3
9 gynecomastia 10.1
10 turner syndrome 10.1
11 pseudohermaphroditism 10.1
12 adenoma 10.1
13 precocious puberty 10.1
14 osteoporosis 10.1
15 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 10.1
16 adrenocortical carcinoma, hereditary 10.1
17 adrenal cortical carcinoma 10.1
18 male infertility 10.1
19 glucocorticoid-induced osteoporosis 10.1
20 ovarian disease 10.1
21 adrenal cortical adenocarcinoma 10.1
22 ovarian cyst 10.1
23 cytochrome p450 oxidoreductase deficiency 10.1
24 macrodactyly 10.0
25 androgen insensitivity syndrome 10.0
26 lymphangioma 10.0
27 cystic lymphangioma 10.0
28 diabetes mellitus, noninsulin-dependent 9.9
29 neuroblastoma 9.9
30 aromatase deficiency 9.9
31 keratoconus 9.9
32 polycystic ovary syndrome 9.9
33 immunoglobulin alpha deficiency 9.9
34 lymphoma 9.9
35 endometrial hyperplasia 9.9
36 hypospadias 9.9
37 infant gynecomastia 9.9
38 pyloric stenosis 9.9
39 gonadal dysgenesis 9.9
40 mixed gonadal dysgenesis 9.9
41 adrenal rest tumor 9.9
42 impotence 9.9
43 leydig cell tumor 9.9
44 germinoma 9.9
45 adrenal adenoma 9.9
46 hyperthyroidism 9.9
47 polycythemia 9.9
48 lymphosarcoma 9.9
49 hypopituitarism 9.9
50 central precocious puberty 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...

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

60 33 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 Frequent (79-30%) HP:0000822
2 gynecomastia 60 33 Occasional (29-5%) HP:0000771
3 renal salt wasting 60 33 Occasional (29-5%) HP:0000127
4 adrenogenital syndrome 60 33 Very frequent (99-80%) HP:0000840
5 obesity 60 Frequent (79-30%)
6 intellectual disability 60 Occasional (29-5%)
7 failure to thrive 60 Occasional (29-5%)
8 hypotension 60 Very frequent (99-80%)
9 short stature 60 Very frequent (99-80%)
10 dehydration 60 Very frequent (99-80%)
11 fever 33 HP:0001945
12 vomiting 60 Very frequent (99-80%)
13 osteoporosis 60 Very frequent (99-80%)
14 hypoglycemia 33 HP:0001943
15 feeding difficulties 60 Very frequent (99-80%)
16 abnormality of the thorax 33 HP:0000765
17 acne 60 Frequent (79-30%)
18 reduced bone mineral density 60 Very frequent (99-80%)
19 primary adrenal insufficiency 60 Very frequent (99-80%)
20 hypospadias 33 HP:0000047
21 aggressive behavior 60 Occasional (29-5%)
22 polycystic ovaries 60 Very frequent (99-80%)
23 decreased fertility 60 Very frequent (99-80%)
24 hyponatremia 60 Very frequent (99-80%)
25 adrenocortical adenoma 60 Occasional (29-5%)
26 long penis 60 Frequent (79-30%)
27 female pseudohermaphroditism 60 Occasional (29-5%)
28 ambiguous genitalia 60 Frequent (79-30%)
29 abnormality of the vagina 60 Frequent (79-30%)
30 enlarged polycystic ovaries 60 Very frequent (99-80%)
31 generalized hyperpigmentation 60 Frequent (79-30%)
32 abnormal spermatogenesis 60 Frequent (79-30%)
33 neonatal hypoglycemia 60 Very frequent (99-80%)
34 accelerated skeletal maturation 60 Very frequent (99-80%)
35 urogenital sinus anomaly 60 Frequent (79-30%)
36 clitoromegaly 60 Frequent (79-30%)
37 increased circulating renin level 60 Very frequent (99-80%)
38 abnormality of prenatal development or birth 60 Frequent (79-30%)
39 acidosis 60 Very frequent (99-80%)
40 hyperkalemia 60 Very frequent (99-80%)
41 decreased circulating aldosterone level 60 Very frequent (99-80%)
42 increased circulating acth level 60 Very frequent (99-80%)
43 hypernatriuria 60 Very frequent (99-80%)
44 decreased circulating cortisol level 60 Very frequent (99-80%)
45 elevated follicle stimulating hormone 60 Very frequent (99-80%)
46 hypovolemia 60 Very frequent (99-80%)
47 adrenocorticotropic hormone excess 60 Frequent (79-30%)
48 elevated luteinizing hormone 60 Very frequent (99-80%)
49 decreased fertility in females 60 Frequent (79-30%)
50 decreased fertility in males 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

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 192)
# 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
Ethinyl Estradiol Approved Phase 4,Phase 2,Not Applicable 57-63-6 5991
3
Polyestradiol phosphate Approved Phase 4,Phase 2,Not Applicable 28014-46-2
4
Drospirenone Approved Phase 4 67392-87-4 68873
5
Cyproterone Acetate Approved, Investigational Phase 4,Not Applicable 427-51-0
6
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
7
Racepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 329-65-7 838
8
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-43-4 5816
9
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-03-3
10
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-23-7 5754
11
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 1177-87-3
12
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-02-2 5743
13
leucovorin Approved Phase 4,Not Applicable 58-05-9 6006 143
14
Metformin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 657-24-9 14219 4091
15
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3 302-25-0
16
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755
17
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
18
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3 2921-57-5
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable 59-30-3 6037
20
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 7440-70-2 271
21
Cortisone Experimental Phase 4,Phase 2 53-06-5 222786
22
Prednisolone hemisuccinate Experimental Phase 4,Phase 3 2920-86-7
23 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
24 Antioxidants Phase 4,Not Applicable
25 Drospirenone and ethinyl estradiol combination Phase 4
26 Mineralocorticoids Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
27 Contraceptive Agents Phase 4,Phase 2,Not Applicable
28 Contraceptive Agents, Male Phase 4,Not Applicable
29 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
30 Natriuretic Agents Phase 4,Early Phase 1,Not Applicable
31 Contraceptives, Oral Phase 4,Phase 2,Not Applicable
32 Mineralocorticoid Receptor Antagonists Phase 4,Phase 3,Early Phase 1,Not Applicable
33 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
34 Estradiol 17 beta-cypionate Phase 4,Phase 2,Not Applicable
35 Estradiol 3-benzoate Phase 4,Phase 2,Not Applicable
36
Cyproterone Phase 4,Not Applicable 2098-66-0 5284537
37 Androgen Antagonists Phase 4,Phase 2,Not Applicable
38 Contraceptives, Oral, Combined Phase 4,Phase 2,Not Applicable
39 diuretics Phase 4,Early Phase 1,Not Applicable
40 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
41 Diuretics, Potassium Sparing Phase 4,Early Phase 1,Not Applicable
42 Estrogens Phase 4,Phase 3,Phase 2,Not Applicable
43 Hemostatics Phase 4
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
45 Protective Agents Phase 4,Phase 3,Not Applicable
46 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
47 Mydriatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
48 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
49 Adrenergic beta-Agonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
50 Hydrocortisone-17-butyrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 112)
# 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 Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
6 Ovarian Response to Recombinant Follicle Stimulating Hormone in Women With PCOS Recruiting NCT03252223 Phase 4 Recombinant Follicle Stimulating Hormone
7 COrticosteroid in Congenital Adrenal Hyperplasia Unknown status NCT02552251 Phase 2, Phase 3
8 Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia Completed NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
9 Extension Study for Patients Entered Into Study Infacort 003 Completed NCT02733367 Phase 3 Infacort®
10 SPARTACUS: Subtyping Primary Aldosteronism: a Randomized Trial Comparing Adrenal Vein Sampling and Computed Tomography Scan. Completed NCT01096654 Phase 3
11 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3 doxycycline
12 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
13 A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH Recruiting NCT03062280 Phase 3 Hydrocortisone
14 Adrenal Artery Ablation for Primary Aldosteronism Recruiting NCT03653845 Phase 3 Sequenced antihypertensvie drugs with titrated dosage
15 Adrenal Artery Ablation Treats Primary Aldosteronism Recruiting NCT03398785 Phase 3
16 Open-label Comparison of Chronocort® Versus Standard Glucocorticoid Replacement Therapy Suspended NCT03532022 Phase 3 Chronocort®;Standard Care
17 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Unknown status NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
18 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
19 Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
20 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
21 A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
22 Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia Completed NCT00001521 Phase 2 Flutamide;Letrozole;Hydrocortisone
23 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
24 Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH Completed NCT01735617 Phase 2 Hydrocortisone Modified Release Capsules
25 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
26 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Completed NCT02468193 Phase 2 Osilodrostat
27 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
28 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
29 Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adults With Congenital Adrenal Hyperplasia Recruiting NCT03525886 Phase 2 NBI-74788
30 Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia Recruiting NCT03687242 Phase 2 SPR001
31 Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia Recruiting NCT03257462 Phase 2 SPR001
32 Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1, Phase 2 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
33 Nevanimibe HCl for the Treatment of Classic CAH Recruiting NCT03669549 Phase 2 Nevanimibe hydrochloride
34 Comparison of Metformin and Pioglitazone in Regulating Menstrual Irregularities and Hyperandrogenism Recruiting NCT03757923 Phase 1, Phase 2 TAB METFORMIN;TAB PIOGLITAZONE
35 Acupuncture or Metformin for Insulin Resistance in Women With PCOS Recruiting NCT02647827 Phase 2 Metformin
36 Androgen Excess as a Cause for Adipogenic Dysfunction in PCOS Women Recruiting NCT01889199 Phase 2 Flutamide
37 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
38 Androgen Reduction in Congenital Adrenal Hyperplasia Not yet recruiting NCT03548246 Phase 2 Abiraterone acetate;Placebo;Hydrocortisone;Fludrocortisone
39 Inositol Supplementation to Treat PCOS (INSUPP-PCOS) Not yet recruiting NCT03864068 Phase 2 Inositol powder
40 A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
41 An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone Completed NCT03019614 Phase 1 Hydrocortisone;Chronocort
42 A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations Completed NCT03051893 Phase 1 Chronocort
43 Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1 Recruiting NCT02574910 Phase 1 Abiraterone acetate
44 Suppression of Daytime and Nighttime Luteinizing Hormone Frequency by Progesterone Recruiting NCT01428089 Phase 1 Progesterone;Placebo
45 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
46 Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency. Unknown status NCT01862380 Not Applicable
47 Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers Unknown status NCT00617292
48 Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia Unknown status NCT00694525
49 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Unknown status NCT02810496 Not Applicable
50 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510

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 Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 30

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

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

42
Ovary, Adrenal Gland, Bone, Cortex, Adrenal Cortex, Skin, Kidney

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 910)
# Title Authors Year
1
Postmortem diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia: medico-legal issues. ( 30729770 )
2019
2
Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. ( 30812049 )
2019
3
CORRIGENDUM FOR "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline". ( 30407499 )
2019
4
Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment. ( 30697677 )
2019
5
Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency. ( 30036269 )
2019
6
Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency. ( 29252197 )
2018
7
Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. ( 29230843 )
2018
8
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa. ( 29429446 )
2018
9
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene. ( 29450859 )
2018
10
Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 29718004 )
2018
11
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany. ( 29884168 )
2018
12
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland. ( 30056407 )
2018
13
Birth Sizes of Neonates with Congenital Adrenal Hyperplasia Secondary to 21-Hydroxylase Deficiency. ( 30178749 )
2018
14
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. ( 30272171 )
2018
15
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 30465166 )
2018
16
Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency. ( 30470203 )
2018
17
Response to Letter to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". ( 30561699 )
2018
18
Letters to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". ( 30561707 )
2018
19
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening. ( 28392195 )
2018
20
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan. ( 29455197 )
2018
21
Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up. ( 29531157 )
2018
22
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency. ( 29562581 )
2018
23
Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency. ( 29694951 )
2018
24
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China. ( 30048636 )
2018
25
Late onset adrenal insufficiency after adrenalectomy due to latent nonclassical 21-hydroxylase deficiency: A case report. ( 30113485 )
2018
26
Health problems of adolescent and adult patients with 21-hydroxylase deficiency. ( 30393437 )
2018
27
Assay of steroids by liquid chromatography-tandem mass spectrometry in monitoring 21-hydroxylase deficiency. ( 30530876 )
2018
28
MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency. ( 30566904 )
2018
29
[Clinical report of testicular hypoplasia combined with 21-hydroxylase deficiency]. ( 29419855 )
2018
30
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree. ( 29328376 )
2018
31
An AAVrh10-CAG-CYP21-HA vector allows persistent correction of 21-hydroxylase deficiency in a Cyp21<sup>-/-</sup>mouse model. ( 28165447 )
2017
32
Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height. ( 28672743 )
2017
33
Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. ( 28787274 )
2017
34
Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations. ( 28415939 )
2017
35
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism. ( 28669219 )
2017
36
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
37
CYP21A2 intronic variants causing 21-hydroxylase deficiency. ( 28521877 )
2017
38
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults. ( 28073127 )
2017
39
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
40
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment. ( 28115464 )
2017
41
Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 28500827 )
2017
42
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women. ( 28582566 )
2017
43
The urinary steroidome of treated children with classic 21-hydroxylase deficiency. ( 27544322 )
2017
44
Assessment of early atherosclerosis and left ventricular dysfunction in children with 21-hydroxylase deficiency. ( 27905124 )
2017
45
Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study. ( 28149309 )
2017
46
Cardio-metabolic risk factors in youth with classical 21-hydroxylase deficiency. ( 28224294 )
2017
47
Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns. ( 28299309 )
2017
48
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency. ( 28472487 )
2017
49
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. ( 28785026 )
2017
50
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

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

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

76 (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

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_000500.9(CYP21A2): c.710_719delTCGTGGAGATinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) indel Pathogenic rs786204728 GRCh38 Chromosome 6, 32039807: 32039816
2 CYP21A2 NM_000500.9(CYP21A2): c.710_719delTCGTGGAGATinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) indel Pathogenic rs786204728 GRCh37 Chromosome 6, 32007584: 32007593
3 CYP21A2 NM_000500.7: c.*28697972C> G single nucleotide variant Pathogenic
4 CYP21A2 NM_000500.7: c.*28698317T> A single nucleotide variant Pathogenic
5 CYP21A2 NM_000500.7: c.*28699001G> T single nucleotide variant Pathogenic
6 CYP21A2 NM_000500.7: c.*28697405C> T single nucleotide variant Pathogenic
7 CYP21A2 NM_000500.7: c.*28699312C> T single nucleotide variant Pathogenic
8 CYP21A2 NM_000500.7: c.*28699426C> T single nucleotide variant Pathogenic
9 CYP21A2 NM_000500.7: c.*28699080dupT duplication Likely pathogenic
10 CYP21A2 NM_000500.7: c.*28698024_*28698031del8 deletion Pathogenic
11 CYP21A2 NM_000500.7(CYP21A2): c.518T> A (p.Ile173Asn) single nucleotide variant Pathogenic rs6475 GRCh37 Chromosome 6, 32007203: 32007203
12 CYP21A2 NM_000500.7(CYP21A2): c.518T> A (p.Ile173Asn) single nucleotide variant Pathogenic rs6475 GRCh38 Chromosome 6, 32039426: 32039426
13 CYP21A2 NM_000500.7(CYP21A2): c.844G> T (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh37 Chromosome 6, 32007887: 32007887
14 CYP21A2 NM_000500.7(CYP21A2): c.844G> T (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh38 Chromosome 6, 32040110: 32040110
15 CYP21A2 NM_000500.7(CYP21A2): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs7769409 GRCh37 Chromosome 6, 32008312: 32008312
16 CYP21A2 NM_000500.7(CYP21A2): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs7769409 GRCh38 Chromosome 6, 32040535: 32040535
17 CYP21A2 NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs9378251 GRCh37 Chromosome 6, 32006291: 32006291
18 CYP21A2 NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs9378251 GRCh38 Chromosome 6, 32038514: 32038514
19 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh37 Chromosome 6, 32007849: 32007849
20 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh38 Chromosome 6, 32040072: 32040072
21 CYP21A2 NM_000500.7(CYP21A2): c.293-13C> G single nucleotide variant Pathogenic rs6467 GRCh37 Chromosome 6, 32006858: 32006858
22 CYP21A2 NM_000500.7(CYP21A2): c.293-13C> G single nucleotide variant Pathogenic rs6467 GRCh38 Chromosome 6, 32039081: 32039081
23 CYP21A2 NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs201552310 GRCh37 Chromosome 6, 32007917: 32007917
24 CYP21A2 NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs201552310 GRCh38 Chromosome 6, 32040140: 32040140
25 CYP21A2 NM_000500.9(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs) indel Pathogenic rs397509367 GRCh37 Chromosome 6, 32008874: 32008875
26 CYP21A2 NM_000500.9(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs) indel Pathogenic rs397509367 GRCh38 Chromosome 6, 32041097: 32041098
27 CYP21A2 -4C-T, PRO105LEU, AND PRO453SER single nucleotide variant Pathogenic
28 CYP21A2 NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser) single nucleotide variant Pathogenic rs6445 GRCh37 Chromosome 6, 32008783: 32008783
29 CYP21A2 NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser) single nucleotide variant Pathogenic rs6445 GRCh38 Chromosome 6, 32041006: 32041006
30 CYP21A2 CYP21A2, 30-KB DEL deletion Pathogenic
31 CYP21A2 CYP21A2, GENE CONVERSION CYP21 FROM CYP21P undetermined variant Pathogenic
32 CYP21A2 NM_000500.9(CYP21A2): c.25_27dup (p.Leu10_Pro11insLeu) duplication Benign rs61338903 GRCh37 Chromosome 6, 32006227: 32006229
33 CYP21A2 NM_000500.9(CYP21A2): c.25_27dup (p.Leu10_Pro11insLeu) duplication Benign rs61338903 GRCh38 Chromosome 6, 32038450: 32038452
34 CYP21A2 NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs) deletion Pathogenic rs387906510 GRCh37 Chromosome 6, 32006910: 32006917
35 CYP21A2 NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs) deletion Pathogenic rs387906510 GRCh38 Chromosome 6, 32039133: 32039140
36 CYP21A2 CYP21A2, IVS7DS, G-C, +1 single nucleotide variant Pathogenic
37 CYP21A2 NM_000500.7(CYP21A2): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic rs7755898 GRCh37 Chromosome 6, 32008198: 32008198
38 CYP21A2 NM_000500.7(CYP21A2): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic rs7755898 GRCh38 Chromosome 6, 32040421: 32040421
39 CYP21A2 CYP21A2, ARG339HIS AND PRO453SER single nucleotide variant Pathogenic
40 CYP21A2 NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter) single nucleotide variant Pathogenic rs151344503 GRCh37 Chromosome 6, 32008543: 32008543
41 CYP21A2 NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter) single nucleotide variant Pathogenic rs151344503 GRCh38 Chromosome 6, 32040766: 32040766
42 CYP21A2 CYP21A2, GLU380ASP undetermined variant Pathogenic
43 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
44 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
45 CYP21A2 CYP21A2, GLY424SER undetermined variant Pathogenic
46 CYP21A2 CYP21A2, ARG426HIS undetermined variant Pathogenic
47 CYP21A2 CYP21A2, 1-BP INS, 82C insertion Pathogenic
48 CYP21A2 CYP21A2, IVS2, A-G, -2 single nucleotide variant Pathogenic
49 CYP21A2 CYP21A2, 1-BP INS, 1003A insertion Pathogenic
50 CYP21A2 CYP21A2, ARG408CYS undetermined variant Pathogenic

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

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

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