MCID: CNG368
MIFTS: 63

Congenital Adrenal Hyperplasia

Categories: Rare diseases, Genetic diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Congenital Adrenal Hyperplasia

MalaCards integrated aliases for Congenital Adrenal Hyperplasia:

Name: Congenital Adrenal Hyperplasia 12 50 24 29 14 69
Congenital Lipoid Adrenal Hyperplasia 12 50
Lipoid Congenital Adrenal Hyperplasia 50 69
Lipoid Cah 12 50
Cah 50 24
Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 50
Congenital Adrenal Hyperplasia Lipoid 50
Adrenal Hyperplasia Congenital 52
Adrenal Hyperplasia 1 12
Clah 50

Classifications:



Summaries for Congenital Adrenal Hyperplasia

NIH Rare Diseases : 50 congenital adrenal hyperplasia (cah) refers to a group of genetic conditions that affect the adrenal glands. these glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). the signs and symptoms present in each person depend on many factors including the type of cah, the age of diagnosis, and the sex of the affected person. for example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. people with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. treatment for cah varies but may include medication and/or surgery. last updated: 12/26/2014

MalaCards based summary : Congenital Adrenal Hyperplasia, also known as congenital lipoid adrenal hyperplasia, is related to non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and non-classic congenital lipoid adrenal hyperplasia due to star deficency, and has symptoms including short stature, failure to thrive and hypercholesterolemia. An important gene associated with Congenital Adrenal Hyperplasia is CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. The drugs Cosyntropin and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include ovary, adrenal gland and bone, and related phenotypes are cardiovascular system and endocrine/exocrine gland

Disease Ontology : 12 A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.

Wikipedia : 72 Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from... more...

Related Diseases for Congenital Adrenal Hyperplasia

Diseases related to Congenital Adrenal Hyperplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
id Related Disease Score Top Affiliating Genes
1 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.4
2 non-classic congenital lipoid adrenal hyperplasia due to star deficency 12.2
3 classic congenital lipoid adrenal hyperplasia due to star deficency 12.2
4 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.1
5 11-beta-hydroxylase-deficient congenital adrenal hyperplasia 12.0
6 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia 12.0
7 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia 12.0
8 cholesterol desmolase-deficient congenital adrenal hyperplasia 12.0
9 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 12.0
10 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 12.0
11 congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency 12.0
12 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 11.9
13 17-alpha-hydroxylase/17,20-lyase deficiency 11.9
14 adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 11.9
15 3-beta-hydroxysteroid dehydrogenase deficiency 11.9
16 disordered steroidogenesis due to cytochrome p450 oxidoreductase 11.8
17 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 11.7
18 lipoid adrenal hyperplasia 11.5
19 aromatase deficiency 11.4
20 familial glucocorticoid deficiency 11.3
21 adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete 11.2
22 cytochrome p450 oxidoreductase deficiency 10.9
23 classical-like ehlers-danlos syndrome 10.9
24 46,xx gonadal dysgenesis epibulbar dermoid 10.7 CYP21A2 HSD3B2
25 spastic paraplegia 45, autosomal recessive 10.6 CYP17A1 POR
26 gastrojejunal ulcer 10.5 CYP17A1 CYP21A2
27 cleft lip and palate malrotation cardiopathy 10.5 CYP21A2 POMC
28 ocular hypotension 10.5 CYP21A2 STAR
29 spastic ataxia 2 10.4 CYP11B1 CYP11B2
30 hereditary cerebral amyloid angiopathy 10.4 CYP11B1 CYP11B2
31 weill-marchesani syndrome 10.4 CYP17A1 CYP21A2 POR
32 ichthyosis, congenital, autosomal recessive 8 10.3 CYP11A1 STAR
33 candidal paronychia 10.3 CYP11A1 STAR
34 kunjin encephalitis 10.3 CYP11A1 CYP17A1 CYP21A2
35 adrenal rest tumor 10.3
36 sphingolipidosis 10.3 CYP17A1 CYP21A2 POMC
37 intraventricular meningioma 10.2 CYP17A1 HSD3B2
38 pseudohermaphroditism 10.2
39 acute myocarditis 10.2 CYP21A2 POMC
40 mycobacterium gordonae 10.2 CYP17A1 HSD3B1
41 spinocerebellar ataxia 28 10.1 MC2R POMC
42 infertility 10.1
43 hyperandrogenism 10.1
44 leydig cell tumor 10.1
45 centrotemporal epilepsy 10.1 CYP11A1 POMC STAR
46 persistent mullerian duct syndrome, type ii 10.0 MC2R POMC
47 precocious puberty 10.0
48 dfna2 nonsyndromic hearing loss 10.0 CYP17A1 CYP21A2 POMC POR
49 pseudohypoaldosteronism 10.0
50 congenital hypothyroidism 10.0

Graphical network of the top 20 diseases related to Congenital Adrenal Hyperplasia:



Diseases related to Congenital Adrenal Hyperplasia

Symptoms & Phenotypes for Congenital Adrenal Hyperplasia

Human phenotypes related to Congenital Adrenal Hyperplasia:

32 (show top 50) (show all 53)
id Description HPO Frequency HPO Source Accession
1 short stature 32 hallmark (90%) HP:0004322
2 failure to thrive 32 hallmark (90%) HP:0001508
3 hypercholesterolemia 32 hallmark (90%) HP:0003124
4 hypospadias 32 hallmark (90%) HP:0000047
5 osteoporosis 32 hallmark (90%) HP:0000939
6 vomiting 32 hallmark (90%) HP:0002013
7 cryptorchidism 32 hallmark (90%) HP:0000028
8 renal salt wasting 32 hallmark (90%) HP:0000127
9 hyponatremia 32 hallmark (90%) HP:0002902
10 delayed puberty 32 hallmark (90%) HP:0000823
11 hypertension 32 hallmark (90%) HP:0000822
12 feeding difficulties 32 hallmark (90%) HP:0011968
13 hyperkalemia 32 hallmark (90%) HP:0002153
14 feeding difficulties in infancy 32 frequent (33%) HP:0008872
15 dehydration 32 hallmark (90%) HP:0001944
16 gynecomastia 32 hallmark (90%) HP:0000771
17 delayed skeletal maturation 32 hallmark (90%) HP:0002750
18 hypotension 32 hallmark (90%) HP:0002615
19 neonatal hypoglycemia 32 hallmark (90%) HP:0001998
20 adrenogenital syndrome 32 hallmark (90%) HP:0000840
21 congenital adrenal hyperplasia 32 hallmark (90%) HP:0008258
22 decreased testicular size 32 hallmark (90%) HP:0008734
23 male pseudohermaphroditism 32 hallmark (90%) HP:0000037
24 decreased fertility in females 32 hallmark (90%) HP:0000868
25 failure to thrive in infancy 32 frequent (33%) HP:0001531
26 acidosis 32 hallmark (90%) HP:0001941
27 abnormality of metabolism/homeostasis 32 hallmark (90%) HP:0001939
28 absence of secondary sex characteristics 32 hallmark (90%) HP:0008187
29 adrenocortical adenoma 32 hallmark (90%) HP:0008256
30 abnormality of the menstrual cycle 32 hallmark (90%) HP:0000140
31 female pseudohermaphroditism 32 hallmark (90%) HP:0010458
32 generalized hyperpigmentation 32 hallmark (90%) HP:0007440
33 abnormal spermatogenesis 32 hallmark (90%) HP:0008669
34 accelerated skeletal maturation 32 hallmark (90%) HP:0005616
35 ambiguous genitalia, male 32 hallmark (90%) HP:0000033
36 urogenital sinus anomaly 32 hallmark (90%) HP:0100779
37 increased circulating renin level 32 hallmark (90%) HP:0000848
38 abnormality of prenatal development or birth 32 hallmark (90%) HP:0001197
39 decreased circulating aldosterone level 32 hallmark (90%) HP:0004319
40 increased circulating acth level 32 hallmark (90%) HP:0003154
41 hypernatriuria 32 hallmark (90%) HP:0012605
42 decreased circulating cortisol level 32 hallmark (90%) HP:0008163
43 elevated follicle stimulating hormone 32 hallmark (90%) HP:0008232
44 female external genitalia in individual with 46,xy karyotype 32 hallmark (90%) HP:0008730
45 hypovolemia 32 hallmark (90%) HP:0011106
46 adrenocorticotropic hormone excess 32 hallmark (90%) HP:0011749
47 elevated luteinizing hormone 32 hallmark (90%) HP:0011969
48 sex reversal 32 hallmark (90%) HP:0012245
49 abnormal urine potassium concentration 32 hallmark (90%) HP:0012598
50 decreased circulating androgen level 32 hallmark (90%) HP:0030349

MGI Mouse Phenotypes related to Congenital Adrenal Hyperplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 CYP11A1 CYP11B1 CYP11B2 MC2R POMC POR
2 endocrine/exocrine gland MP:0005379 9.8 CYP11A1 CYP11B1 CYP11B2 MC2R POMC POR
3 growth/size/body region MP:0005378 9.76 POR REN STAR CYP11A1 CYP11B1 CYP11B2
4 homeostasis/metabolism MP:0005376 9.61 CYP11A1 CYP11B1 CYP11B2 CYP17A1 MC2R POMC
5 renal/urinary system MP:0005367 9.02 CYP11B1 CYP11B2 POMC POR REN

Drugs & Therapeutics for Congenital Adrenal Hyperplasia

Drugs for Congenital Adrenal Hyperplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 182)
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 2,Phase 3,Phase 1 51-43-4 5816
3
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-23-7 5754 657311
4 Racepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1
5
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
6
Drospirenone Approved Phase 4 67392-87-4 68873
7
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2 50-28-2 5757
8
Ethinyl Estradiol Approved Phase 4,Phase 2 57-63-6 5991
9
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
11
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
12 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Cortisol succinate Phase 4,Phase 2,Phase 3,Phase 1
14 Epinephryl borate Phase 4,Phase 2,Phase 3,Phase 1
15 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
16 Hormones Phase 4,Phase 2,Phase 3,Phase 1
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
18 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 2,Phase 3,Phase 1
19 Hydrocortisone acetate Phase 4,Phase 2,Phase 3,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 Follicle Stimulating Hormone Phase 4
50 Folate Nutraceutical Phase 4

Interventional clinical trials:

(show top 50) (show all 94)

id Name Status NCT ID Phase Drugs
1 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Unknown status NCT00851942 Phase 4 Synacthen (Tetracosactrin)
2 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
3 Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation Unknown status NCT01103518 Phase 4 Ethinyl Estradiol + Cyproterone acetate
4 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
5 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4 Metformin;Ethynyl-estradiol plus cyproterone acetate
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 SPARTACUS: Subtyping Primary Aldosteronism: a Randomized Trial Comparing Adrenal Vein Sampling and Computed Tomography Scan. Completed NCT01096654 Phase 3
9 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3 doxycycline
10 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
11 Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia Recruiting NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
12 A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH Recruiting NCT03062280 Phase 3 Hydrocortisone
13 Extension Study for Patients Entered Into Study Infacort 003 Recruiting NCT02733367 Phase 3 Infacort®
14 Dynamic Hormone Diagnostics in Endocrine Disease Not yet recruiting NCT02934399 Phase 2, Phase 3
15 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
16 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
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 Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
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 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
22 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Recruiting NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
23 Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia Recruiting NCT03257462 Phase 2 SPR001
24 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Recruiting NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
25 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting NCT02468193 Phase 2 Osilodrostat
26 Acupuncture or Metformin for Insulin Resistance in Women With PCOS Recruiting NCT02647827 Phase 2 Metformin
27 Androgen Excess as a Mechanism for Adipogenic Dysfunction in PCOS Women Recruiting NCT01889199 Phase 2 Flutamide
28 A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Active, not recruiting NCT02804178 Phase 2 ATR-101
29 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
30 Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia Completed NCT00001521 Phase 1 Flutamide and Testolactone;Deslorelin
31 A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
32 An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone Completed NCT03019614 Phase 1 Hydrocortisone;Chronocort
33 A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations Completed NCT03051893 Phase 1 Chronocort
34 Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1 Recruiting NCT02574910 Phase 1 Abiraterone acetate
35 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
36 Suppression of Daytime and Nighttime Luteinizing Hormone Frequency by Progesterone Recruiting NCT01428089 Phase 1 Progesterone;Placebo
37 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
38 Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia Unknown status NCT00694525
39 Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers Unknown status NCT00617292
40 Tweens to Teens Project at Penn State Unknown status NCT01184651
41 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
42 Meal Timing on Glucose and Hyperandrogenism in PCOS Women Unknown status NCT01711476
43 Meal Timing on Glucose Metabolism and Hyperandrogenism in Lean Women With Polycystic Ovary Syndrome Unknown status NCT01569425
44 Whole Genome Analysis for the Detection of Key Genes in the Polycystic Ovary Syndrome Unknown status NCT00665171
45 Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
46 Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia Completed NCT01807364
47 Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia Completed NCT00529841 Hydrocortisone sodium acetate
48 Qualitative Research on Women With Congenital Adrenal Hyperplasia Completed NCT00559078
49 Growth Hormone (GH) in Congenital Adrenal Hyperplasia Completed NCT03162172
50 Effects of Pioglitazone in Congenital Adrenal Hyperplasia Completed NCT00151710 Pioglitazone

Search NIH Clinical Center for Congenital Adrenal Hyperplasia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Congenital Adrenal Hyperplasia

Genetic tests related to Congenital Adrenal Hyperplasia:

id Genetic test Affiliating Genes
1 Congenital Adrenal Hyperplasia 29 24

Anatomical Context for Congenital Adrenal Hyperplasia

MalaCards organs/tissues related to Congenital Adrenal Hyperplasia:

39
Ovary, Adrenal Gland, Bone, Kidney, Testes, Pituitary, Brain

Publications for Congenital Adrenal Hyperplasia

Articles related to Congenital Adrenal Hyperplasia:

(show top 50) (show all 807)
id Title Authors Year
1
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
2
Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood. ( 28720594 )
2017
3
Testicular Adrenal Rests Tumors and Testicular Microlithiasis in a Brazilian Case Series with Classic Congenital Adrenal Hyperplasia. ( 28835760 )
2017
4
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population. ( 28870780 )
2017
5
A pilot study on CYP21 gene deletions among a cohort of Sri Lankan children with congenital adrenal hyperplasia ( 28699336 )
2017
6
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations. ( 28514642 )
2017
7
Vascular and cardiac function in young adults with classical congenital adrenal hyperplasia. ( 28879650 )
2017
8
Monitoring steroid replacement therapy in children with congenital adrenal hyperplasia. ( 27977405 )
2017
9
Pregnancy in women with nonclassic congenital adrenal hyperplasia: Time to conceive and outcome. ( 28731586 )
2017
10
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
11
Functional Analysis of Human Cytochrome P450 21A2 Variants Involved in Congenital Adrenal Hyperplasia. ( 28539365 )
2017
12
Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype. ( 28640966 )
2017
13
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum. ( 28638668 )
2017
14
Cognitive impairment in adolescents and adults with congenital adrenal hyperplasia. ( 28771762 )
2017
15
Clinical perspectives in congenital adrenal hyperplasia due to 11I^-hydroxylase deficiency. ( 27928728 )
2017
16
A child with hypertension and ambiguous genitalia - an uncommon variant of congenital adrenal hyperplasia: a case report. ( 28641572 )
2017
17
Parental management of adrenal crisis in children with congenital adrenal hyperplasia. ( 28771930 )
2017
18
Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients. ( 28879515 )
2017
19
Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia. ( 28676275 )
2017
20
Growth and development in children with classic congenital adrenal hyperplasia. ( 27898585 )
2017
21
17I+a89hydroxylase/17,20a89lyase deficiency in congenital adrenal hyperplasia: A case report. ( 27959413 )
2017
22
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults. ( 28073127 )
2017
23
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia. ( 28819757 )
2017
24
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism. ( 28669219 )
2017
25
The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort. ( 27890570 )
2017
26
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. ( 28359061 )
2017
27
A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy. ( 28644547 )
2017
28
Congenital Adrenal Hyperplasia with 11-Beta Hydroxylase Deficiency with Testicular Adrenal Rest Tumour. ( 28782322 )
2017
29
Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. ( 28787274 )
2017
30
Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature. ( 28845624 )
2017
31
Premature pubarche in an infant: nonclassical congenital adrenal hyperplasia or mini-puberty variant? ( 28804212 )
2017
32
The influence of seasonality and manufacturer kit lot changes on 17I+-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns. ( 27900477 )
2017
33
Assembling a Functional Clitoris and Vulva from a Pseudo-Penis: A Surgical Technique for an Adult Woman with Congenital Adrenal Hyperplasia. ( 27965122 )
2016
34
Executive functioning in children with congenital adrenal hyperplasia. ( 27634643 )
2016
35
Prenatal Diagnosis of Congenital Adrenal Hyperplasia. ( 27241964 )
2016
36
NON-CLASSICAL CONGENITAL ADRENAL HYPERPLASIA IN CHILDHOOD. ( 27354284 )
2016
37
Congenital adrenal hyperplasia (CAH) or Wolff-Parkinson-White (WPW): The difficulties of diagnosing a shocked neonate. ( 27333850 )
2016
38
Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia. ( 27432820 )
2016
39
The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11I^-hydroxylase deficiency. ( 26806323 )
2016
40
Gender of rearing and psychosocial aspect in 46 XX congenital adrenal hyperplasia. ( 27867895 )
2016
41
Utility of a precursor-to-product ratio in the evaluation of presumptive positives in newborn screening of congenital adrenal hyperplasia. ( 27929529 )
2016
42
Growth of a progesterone receptor-positive meningioma in a female patient with congenital adrenal hyperplasia. ( 27933170 )
2016
43
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS. ( 26919651 )
2016
44
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient. ( 27047663 )
2016
45
Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism. ( 27294221 )
2016
46
Hypertension in children with congenital adrenal hyperplasia. ( 27105393 )
2016
47
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 27104172 )
2016
48
Correlation of Bone Mineral Parameters with Anthropometric Measurements and the Effect of Glucocorticoids on Bone Mineral Parameters in Congenital Adrenal Hyperplasia: Correspondence. ( 27215537 )
2016
49
Gender Dysphoria in a Genetic Female with Non-Classical Congenital Adrenal Hyperplasia. ( 27169407 )
2016
50
A delayed diagnosis of salt wasting congenital adrenal hyperplasia. ( 27197923 )
2016

Variations for Congenital Adrenal Hyperplasia

ClinVar genetic disease variations for Congenital Adrenal Hyperplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B1 NM_000497.3(CYP11B1): c.124C> T (p.Pro42Ser) single nucleotide variant Pathogenic rs104894069 GRCh37 Chromosome 8, 143961106: 143961106
2 CYP11B1 NM_000497.3(CYP11B1): c.281C> T (p.Pro94Leu) single nucleotide variant Pathogenic rs104894070 GRCh37 Chromosome 8, 143960562: 143960562
3 CYP17A1 NM_000102.3(CYP17A1): c.1435_1438dupATCC (p.Pro480Hisfs) duplication Pathogenic/Likely pathogenic rs556794126 GRCh38 Chromosome 10, 102830791: 102830794

Copy number variations for Congenital Adrenal Hyperplasia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 210511 6 30400000 36600000 Duplication CYP21A2 Congenital adrenal hyperplasia
2 212669 6 40500000 46200000 Copy number Congenital adrenal hyperplasia

Expression for Congenital Adrenal Hyperplasia

Search GEO for disease gene expression data for Congenital Adrenal Hyperplasia.

Pathways for Congenital Adrenal Hyperplasia

Pathways related to Congenital Adrenal Hyperplasia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
2
Show member pathways
12.98 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
3
Show member pathways
12.2 CYP11A1 CYP11B2 CYP21A2 HSD3B1 HSD3B2 MC2R
4 11.67 CYP11A1 CYP11B1 CYP21A2 HSD3B1 HSD3B2 POMC
5
Show member pathways
11.64 CYP11A1 MC2R POMC
6
Show member pathways
11.44 CYP11B1 CYP17A1 HSD3B1 HSD3B2
7 11.42 CYP11A1 CYP17A1 HSD3B1 HSD3B2 STAR
8
Show member pathways
11.31 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
9
Show member pathways
11.22 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
10
Show member pathways
10.99 CYP11B1 CYP11B2 CYP17A1 CYP21A2

GO Terms for Congenital Adrenal Hyperplasia

Cellular components related to Congenital Adrenal Hyperplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.72 CYP17A1 CYP21A2 HSD3B1 HSD3B2 POR
2 mitochondrial inner membrane GO:0005743 9.67 CYP11B1 CYP11B2 HSD3B1 HSD3B2
3 mitochondrion GO:0005739 9.56 CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD3B1 HSD3B2
4 mitochondrial intermembrane space GO:0005758 9.43 HSD3B1 HSD3B2 STAR
5 smooth endoplasmic reticulum membrane GO:0030868 9.16 HSD3B1 HSD3B2
6 mitochondrial membrane GO:0031966 9.02 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2

Biological processes related to Congenital Adrenal Hyperplasia according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.97 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
2 steroid metabolic process GO:0008202 9.8 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 regulation of blood pressure GO:0008217 9.67 CYP11B1 POMC REN
4 sterol metabolic process GO:0016125 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
5 C21-steroid hormone biosynthetic process GO:0006700 9.62 CYP11A1 CYP11B1 CYP11B2 STAR
6 androgen biosynthetic process GO:0006702 9.61 CYP17A1 HSD3B1 HSD3B2
7 estrogen biosynthetic process GO:0006703 9.55 HSD3B1 STAR
8 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.54 POR STAR
9 cellular response to potassium ion GO:0035865 9.52 CYP11B1 CYP11B2
10 cellular response to gonadotropin stimulus GO:0071371 9.51 POR STAR
11 aldosterone biosynthetic process GO:0032342 9.48 CYP11B1 CYP11B2
12 cortisol biosynthetic process GO:0034651 9.46 CYP11B1 CYP11B2
13 mineralocorticoid biosynthetic process GO:0006705 9.46 CYP11B2 CYP21A2 HSD3B1 HSD3B2
14 glucocorticoid biosynthetic process GO:0006704 9.35 CYP11B1 CYP17A1 CYP21A2 HSD3B1 HSD3B2
15 steroid biosynthetic process GO:0006694 9.23 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1

Molecular functions related to Congenital Adrenal Hyperplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
2 heme binding GO:0020037 9.55 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.48 HSD3B1 HSD3B2
4 steroid hydroxylase activity GO:0008395 9.46 CYP11B2 CYP21A2
5 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.43 HSD3B1 HSD3B2
6 steroid delta-isomerase activity GO:0004769 9.4 HSD3B1 HSD3B2
7 corticosterone 18-monooxygenase activity GO:0047783 9.37 CYP11B1 CYP11B2
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.35 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
9 steroid 11-beta-monooxygenase activity GO:0004507 9.32 CYP11B1 CYP11B2
10 oxidoreductase activity GO:0016491 9.23 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1

Sources for Congenital Adrenal Hyperplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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