AH3
MCID: ADR042
MIFTS: 45

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

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

Aliases & Classifications for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase...

Aliases & Descriptions for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

Name: Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 54 50 13
21-Hydroxylase Deficiency 39 71 50 25 69
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 39 23 24
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 50 66
Congenital Adrenal Hyperplasia 1 25 66
Virilizing Adrenal Hyperplasia 23 24
21 Hydroxylase Deficiency 50 29
Cyp21 Deficiency 50 25
Cah1 25 66
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 56
Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 54
Hyperandrogenism Nonclassic Type Due to 21-Hydroxylase Deficiency 66
Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency 25
Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficient 24
Adrenal Hyperplasia Type Iii 66
Adrenal Hyperplasia 3 66
Classic 21-Ohd Cah 56
Cah, 21-Ohd 24
21-Ohd Cah 23
21-Ohd 24
Ah-Iii 66
Ah3 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 201910
Orphanet 56 ORPHA90794
ICD10 via Orphanet 34 E25.0
MeSH 42 D000312

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

OMIM : 54 Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol... (201910) more...

MalaCards based summary : Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency, also known as 21-hydroxylase deficiency, is related to non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 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 Cosyntropin and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and kidney.

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 : 50 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

UniProtKB/Swiss-Prot : 66 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).

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 40)
id Related Disease Score Top Affiliating Genes
1 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.2
2 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.0
3 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 11.8
4 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 11.8
5 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia 11.0
6 adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 10.9
7 congenital adrenal hyperplasia 10.9
8 infertility 10.1
9 hyperandrogenism 10.0
10 adrenal rest tumor 10.0
11 adenoma 9.9
12 obesity 9.9
13 acne 9.9
14 turner syndrome 9.9
15 pseudohermaphroditism 9.9
16 glucocorticoid-induced osteoporosis 9.8
17 ovarian disease 9.8
18 cytochrome p450 oxidoreductase deficiency 9.8
19 gynecomastia 9.8
20 osteoporosis 9.8
21 precocious puberty 9.8
22 male infertility 9.8
23 lymphoma 9.7
24 hyperthyroidism 9.7
25 hypospadias 9.7
26 polycythemia 9.7
27 hypopituitarism 9.7
28 neuroblastoma 9.7
29 pyloric stenosis 9.7
30 gonadal dysgenesis 9.7
31 mixed gonadal dysgenesis 9.7
32 aromatase deficiency 9.7
33 central precocious puberty 9.7
34 androgen insensitivity 9.7
35 leydig cell tumor 9.7
36 encephalopathy 9.7
37 keratoconus 9.7
38 ovarian cyst 9.7
39 polycystic ovary syndrome 9.7
40 adrenal adenoma 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 by clinical synopsis from OMIM:

201910

Clinical features from OMIM:

201910

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

56 32 (show top 50) (show all 73)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 56 32 Frequent (79-30%) HP:0000822
2 gynecomastia 56 32 Occasional (29-5%) HP:0000771
3 renal salt wasting 56 32 Occasional (29-5%) HP:0000127
4 adrenogenital syndrome 56 32 Very frequent (99-80%) HP:0000840
5 fever 32 HP:0001945
6 vomiting 56 Very frequent (99-80%)
7 obesity 56 Frequent (79-30%)
8 intellectual disability 56 Occasional (29-5%)
9 failure to thrive 56 Occasional (29-5%)
10 hypotension 56 Very frequent (99-80%)
11 short stature 56 Very frequent (99-80%)
12 dehydration 56 Very frequent (99-80%)
13 osteoporosis 56 Very frequent (99-80%)
14 hypoglycemia 32 HP:0001943
15 feeding difficulties 56 Very frequent (99-80%)
16 abnormality of the thorax 32 HP:0000765
17 acne 56 Frequent (79-30%)
18 reduced bone mineral density 56 Very frequent (99-80%)
19 primary adrenal insufficiency 56 Very frequent (99-80%)
20 hypospadias 32 HP:0000047
21 polycystic ovaries 56 Very frequent (99-80%)
22 decreased fertility 56 Very frequent (99-80%)
23 hyponatremia 56 Very frequent (99-80%)
24 adrenocortical adenoma 56 Occasional (29-5%)
25 aggressive behavior 56 Occasional (29-5%)
26 long penis 56 Frequent (79-30%)
27 female pseudohermaphroditism 56 Occasional (29-5%)
28 ambiguous genitalia 56 Frequent (79-30%)
29 abnormality of the vagina 56 Frequent (79-30%)
30 enlarged polycystic ovaries 56 Very frequent (99-80%)
31 generalized hyperpigmentation 56 Frequent (79-30%)
32 abnormal spermatogenesis 56 Frequent (79-30%)
33 accelerated skeletal maturation 56 Very frequent (99-80%)
34 urogenital sinus anomaly 56 Frequent (79-30%)
35 clitoromegaly 56 Frequent (79-30%)
36 increased circulating renin level 56 Very frequent (99-80%)
37 abnormality of prenatal development or birth 56 Frequent (79-30%)
38 acidosis 56 Very frequent (99-80%)
39 neonatal hypoglycemia 56 Very frequent (99-80%)
40 hyperkalemia 56 Very frequent (99-80%)
41 decreased circulating aldosterone level 56 Very frequent (99-80%)
42 increased circulating acth level 56 Very frequent (99-80%)
43 hypernatriuria 56 Very frequent (99-80%)
44 decreased circulating cortisol level 56 Very frequent (99-80%)
45 elevated follicle stimulating hormone 56 Very frequent (99-80%)
46 hypovolemia 56 Very frequent (99-80%)
47 adrenocorticotropic hormone excess 56 Frequent (79-30%)
48 elevated luteinizing hormone 56 Very frequent (99-80%)
49 decreased fertility in females 56 Frequent (79-30%)
50 decreased fertility in males 56 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 177)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cosyntropin Approved Phase 4 16960-16-0 16129617
2
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 51-43-4 5816
3
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-23-7 5754 657311
4
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
5
Drospirenone Approved Phase 4 67392-87-4 68873
6
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2 50-28-2 5757 53477783
7
Ethinyl Estradiol Approved Phase 4,Phase 2 57-63-6 5991
8
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
10
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
11 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Cortisol succinate Phase 4,Phase 3,Phase 2,Phase 1
13 Epinephryl borate Phase 4,Phase 3,Phase 2,Phase 1
14 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
15 Hormones Phase 4,Phase 3,Phase 2,Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
17 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 3,Phase 2,Phase 1
18 Hydrocortisone acetate Phase 4,Phase 3,Phase 2,Phase 1
19 Racepinephrine Phase 4,Phase 3,Phase 2,Phase 1
20 Androgen Antagonists Phase 4,Phase 2,Phase 1
21 Androgens Phase 4,Phase 3,Phase 2,Phase 1
22 Antioxidants Phase 4
23 Contraceptive Agents Phase 4,Phase 2
24 Contraceptive Agents, Male Phase 4
25 Contraceptives, Oral Phase 4,Phase 2
26 Contraceptives, Oral, Combined Phase 4,Phase 2
27
Cyproterone Phase 4 2098-66-0 5284537
28 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
29 diuretics Phase 4
30 Diuretics, Potassium Sparing Phase 4
31 Drospirenone and ethinyl estradiol combination Phase 4
32 Estradiol 17 beta-cypionate Phase 4,Phase 2
33 Estradiol 3-benzoate Phase 4,Phase 2
34 Estradiol valerate Phase 4,Phase 2 979-32-8
35 Estrogens Phase 4,Phase 3,Phase 2
36 Hemostatics Phase 4
37 Mineralocorticoid Receptor Antagonists Phase 4,Phase 3
38 Mineralocorticoids Phase 4,Phase 3,Phase 2
39 Natriuretic Agents Phase 4
40 Polyestradiol phosphate Phase 4,Phase 2
41 Protective Agents Phase 4
42 Calcium, Dietary Phase 4,Phase 3,Phase 1,Phase 2
43 Hematinics Phase 4
44 Micronutrients Phase 4
45 Trace Elements Phase 4
46 Vitamin B Complex Phase 4
47 Vitamins Phase 4
48 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
49 Folate Nutraceutical Phase 4
50 Vitamin B9 Nutraceutical Phase 4

Interventional clinical trials:

(show top 50) (show all 92)
id Name Status NCT ID Phase
1 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Unknown status NCT00851942 Phase 4
2 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4
3 Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation Unknown status NCT01103518 Phase 4
4 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4
5 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4
6 SPARTACUS: Subtyping Primary Aldosteronism: a Randomized Trial Comparing Adrenal Vein Sampling and Computed Tomography Scan. Completed NCT01096654 Phase 3
7 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3
8 The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or Anovulatory Women Completed NCT00413179 Phase 3
9 COrticosteroid in Congenital Adrenal Hyperplasia Recruiting NCT02552251 Phase 2, Phase 3
10 Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia Recruiting NCT02716818 Phase 3
11 A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH Recruiting NCT03062280 Phase 3
12 Extension Study for Patients Entered Into Study Infacort 003 Recruiting NCT02733367 Phase 3
13 Dynamic Hormone Diagnostics in Endocrine Disease Not yet recruiting NCT02934399 Phase 2, Phase 3
14 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2
15 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2
16 Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia Completed NCT00519818 Phase 1, Phase 2
17 Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH Completed NCT01735617 Phase 2
18 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2
19 Phase II Randomized Study of Leuprolide Vs Oral Contraceptive Therapy Vs Leuprolide and Oral Contraceptive Therapy for Ovarian Hyperandrogenism Completed NCT00004763 Phase 2
20 Treatment of Hyperandrogenism Versus Insulin Resistance in Infertile Polycystic Ovary Syndrome (PCOS) Women Completed NCT00704912 Phase 2
21 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Recruiting NCT01771328 Phase 2
22 A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Recruiting NCT02804178 Phase 2
23 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Recruiting NCT02096510 Phase 1, Phase 2
24 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting NCT02468193 Phase 2
25 Acupuncture or Metformin for Insulin Resistance in Women With PCOS Recruiting NCT02647827 Phase 2
26 Androgen Excess as a Mechanism for Adipogenic Dysfunction in PCOS Women Recruiting NCT01889199 Phase 2
27 Metformine and CC Compared With Placebo and CC for Induction Ovulation in PCOS Patients With Insulin Resistant Enrolling by invitation NCT02523898 Phase 2
28 A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1
29 Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia Completed NCT00001521 Phase 1
30 An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone Completed NCT03019614 Phase 1
31 A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations Completed NCT03051893 Phase 1
32 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
33 Suppression of Daytime and Nighttime Luteinizing Hormone Frequency by Progesterone Recruiting NCT01428089 Phase 1
34 Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1 Not yet recruiting NCT02574910 Phase 1
35 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1
36 Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers Unknown status NCT00617292
37 Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia Unknown status NCT00694525
38 Tweens to Teens Project at Penn State Unknown status NCT01184651
39 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
40 Meal Timing on Glucose and Hyperandrogenism in PCOS Women Unknown status NCT01711476
41 Meal Timing on Glucose Metabolism and Hyperandrogenism in Lean Women With Polycystic Ovary Syndrome Unknown status NCT01569425
42 Whole Genome Analysis for the Detection of Key Genes in the Polycystic Ovary Syndrome Unknown status NCT00665171
43 Examining Genetic Differences Among People With 21-Hydroxylase Deficiency Completed NCT00542841
44 Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia Completed NCT01807364
45 Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
46 Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia Completed NCT00529841
47 Growth Hormone (GH) in Congenital Adrenal Hyperplasia Completed NCT03162172
48 Qualitative Research on Women With Congenital Adrenal Hyperplasia Completed NCT00559078
49 Effects of Pioglitazone in Congenital Adrenal Hyperplasia Completed NCT00151710
50 Catecholamine Reserve and Exercise Tolerance in Healthy Volunteers and Patients With Congenital Adrenal Hyperplasia Completed NCT00011791

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:

id Genetic test Affiliating Genes
1 21-Hydroxylase Deficiency 29
2 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 24 CYP21A2

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

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

39
Adrenal Gland, Skin, Kidney, Cortex, Adrenal Cortex, Ovary, Bone

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

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

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

66 (show top 50) (show all 67)
id 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 rs777860817
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.Ala15Thr VAR_026059 rs63749090
26 CYP21A2 p.Pro30Gln VAR_026060
27 CYP21A2 p.Gly90Val VAR_026061
28 CYP21A2 p.Arg124His VAR_026062 rs72552750
29 CYP21A2 p.Gly178Ala VAR_026063 rs72552751
30 CYP21A2 p.Val211Leu VAR_026064
31 CYP21A2 p.Leu261Pro VAR_026065 rs750337015
32 CYP21A2 p.Val281Gly VAR_026066
33 CYP21A2 p.Met283Leu VAR_026067
34 CYP21A2 p.Gly291Cys VAR_026068
35 CYP21A2 p.Leu300Phe VAR_026069 rs765001985
36 CYP21A2 p.Leu317Met VAR_026071
37 CYP21A2 p.Arg354Cys VAR_026072 rs772900496
38 CYP21A2 p.Arg354His VAR_026073 rs760216630
39 CYP21A2 p.Leu363Trp VAR_026074
40 CYP21A2 p.His365Tyr VAR_026075
41 CYP21A2 p.Arg408Cys VAR_026077 rs72552757
42 CYP21A2 p.Gly424Ser VAR_026078 rs72552758
43 CYP21A2 p.Arg426His VAR_026079 rs151344504
44 CYP21A2 p.Arg435Cys VAR_026080 rs767333157
45 CYP21A2 p.Arg479Leu VAR_026081 rs184649564
46 CYP21A2 p.Pro482Ser VAR_026082 rs776989258
47 CYP21A2 p.Arg483Trp VAR_026083 rs759736443
48 CYP21A2 p.Gly56Arg VAR_065668
49 CYP21A2 p.Ile77Thr VAR_065669
50 CYP21A2 p.Leu107Arg VAR_065670

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

6 (show all 37)
id 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.158_159delCT (p.Gln54Glufs) deletion Likely pathogenic rs886038207 GRCh38 Chromosome 6, 32038580: 32038581

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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