AICSR
MCID: ADR056
MIFTS: 56

Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete (AICSR)

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

Aliases & Classifications for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

MalaCards integrated aliases for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

Name: Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 57 12 29 6 39 70
Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 57 36 13
Congenital Adrenal Insufficiency 12 6 15
P450scc Deficiency 57 12 72
Adrenogenital Syndrome 44 70
46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency 58
Adrenal Insufficiency Congenital with 46,xy Sex Reversal Partial or Complete 72
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal 72
Adrenal Insufficiency, Congenital 70
Xy Sex Reversal-Adrenal Failure 58
Congenital Adrenal Hyperplasia 70
Aicsr 72

Characteristics:

Orphanet epidemiological data:

58
46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

OMIM® : 57 P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by Kim et al., 2008). Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; 201710), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by Sahakitrungruang et al., 2011). (613743) (Updated 20-May-2021)

MalaCards based summary : Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete, also known as adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete, is related to 3-beta-hydroxysteroid dehydrogenase deficiency and amenorrhea. An important gene associated with Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete is CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1), and among its related pathways/superpathways are Steroid hormone biosynthesis and Metabolism. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, uterus and bone, and related phenotypes are agenesis of corpus callosum and failure to thrive

Disease Ontology : 12 An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has material basis in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.

KEGG : 36 The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, catalyzes the conversion of cholesterol to pregnenolone in the first step of steroid hormone biosynthesis. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorder of sex development.

UniProtKB/Swiss-Prot : 72 Adrenal insufficiency, congenital, with 46,XY sex reversal: A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia.

Related Diseases for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Diseases related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 3-beta-hydroxysteroid dehydrogenase deficiency 30.2 HSD3B2 CYP21A2
2 amenorrhea 30.0 POR POMC CYP17A1
3 adrenal cortical adenoma 29.8 POMC CYP21A2 CYP17A1 CYP11A1
4 hypospadias 29.7 HSD3B2 CYP17A1 CYP11A1
5 adrenal hypoplasia, congenital 29.7 STAR POMC NR0B1 HSD3B2
6 adrenal adenoma 29.5 POMC CYP21A2 CYP17A1 CYP11A1
7 leydig cell tumor 29.5 STAR NR0B1 CYP21A2 CYP17A1 CYP11A1
8 conn's syndrome 29.4 POMC CYP21A2 CYP17A1 CYP11A1
9 hyperandrogenism 29.4 POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
10 adrenal cortical carcinoma 29.3 STAR POMC NR0B1 CYP21A2 CYP17A1 CYP11A1
11 cryptorchidism, unilateral or bilateral 29.1 STAR POMC NR0B1 HSD3B2 CYP17A1 CYP11A1
12 adrenal carcinoma 28.8 STAR POMC NR0B1 HSD3B2 CYP21A2 CYP17A1
13 pseudohermaphroditism 28.6 STAR POMC NR0B1 HSD3B2 CYP21A2 CYP17A1
14 lipoid congenital adrenal hyperplasia 28.4 STAR POR POMC NR0B1 HSD3B2 CYP21A2
15 adrenogenital syndrome 11.6
16 premature ovarian failure 7 10.2
17 hermaphroditism 10.2
18 adenoma 10.2
19 primary adrenal insufficiency 10.1
20 adrenocortical carcinoma, hereditary 10.1
21 adrenal cortical adenocarcinoma 10.1
22 infertility 10.1
23 hypoglycemia 10.0
24 systemic lupus erythematosus 10.0
25 urinary tract infection 10.0
26 acute cystitis 10.0
27 myoma 10.0
28 seminoma 10.0
29 lupus erythematosus 10.0
30 malakoplakia 10.0
31 vaginal atresia 10.0
32 smith-lemli-opitz syndrome 10.0 STAR CYP17A1 CYP11A1
33 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.0 NR0B1 NNT CYP11A1
34 dowling-degos disease 1 10.0
35 nasal cavity adenocarcinoma 9.9 POMC FDX1
36 waterhouse-friderichsen syndrome 9.9 POMC CYP21A2
37 hyperaldosteronism, familial, type i 9.9 POMC CYP17A1
38 acute adrenal insufficiency 9.9 POMC CYP21A2 CYP11A1
39 pigmentary disorder, reticulate, with systemic manifestations, x-linked 9.9 FDXR FDX1
40 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.9
41 metabolic acidosis 9.9
42 hypogonadism 9.9
43 constipation 9.9
44 lymphopenia 9.9
45 precocious puberty 9.9
46 central precocious puberty 9.9
47 hypotonia 9.9
48 hypercholesterolemia, familial, 4 9.9 POMC FDXR
49 acanthosis nigricans 9.9
50 cornelia de lange syndrome 1 9.9

Graphical network of the top 20 diseases related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:



Diseases related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete

Symptoms & Phenotypes for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Human phenotypes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
6 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
7 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
8 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
9 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
10 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
11 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
12 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
13 hyperkalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002153
14 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
15 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
16 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
17 ambiguous genitalia, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0000033
18 urogenital sinus anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100779
19 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
20 aplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000151
21 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
22 sex reversal 58 31 hallmark (90%) Very frequent (99-80%) HP:0012245
23 female external genitalia in individual with 46,xy karyotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0008730
24 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
25 hypovolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011106
26 decreased circulating androgen level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030349
27 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
28 decreased circulating cortisol level 58 31 hallmark (90%) Very frequent (99-80%) HP:0008163
29 adrenocorticotropic hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0011749
30 renal salt wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000127
31 hypernatriuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012605
32 increased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000848
33 acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001941
34 generalized bronze hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007574
35 low maternal serum estriol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008073
36 abnormality of the leydig cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0010789
37 abnormal urine potassium concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0012598
38 induced vaginal delivery 58 31 hallmark (90%) Very frequent (99-80%) HP:0030369
39 abnormal circulating cholesterol concentration 31 hallmark (90%) HP:0003107
40 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
41 adrenal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000835
42 elevated circulating follicle stimulating hormone level 58 31 frequent (33%) Frequent (79-30%) HP:0008232
43 elevated circulating luteinizing hormone level 58 31 frequent (33%) Frequent (79-30%) HP:0011969
44 midshaft hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0012854
45 clitoral hypertrophy 31 occasional (7.5%) HP:0008665
46 reduced bone mineral density 58 Very frequent (99-80%)
47 hyperaldosteronism 31 HP:0000859
48 generalized hyperpigmentation 58 Very frequent (99-80%)
49 clitoromegaly 58 Occasional (29-5%)
50 primary adrenal insufficiency 58 Very frequent (99-80%)

Clinical features from OMIM®:

613743 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.61 FDX1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.61 FDX1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.61 CYP11A1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.61 CYP17A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-196 9.61 CYP11A1 CYP17A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.61 CYP11A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.61 CYP11A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.61 FDX1
9 Reduced mammosphere formation GR00396-S 9.02 CYP21A2 HSD3B2 NR0B1 POMC STAR

Drugs & Therapeutics for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Drugs for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
6
Cortisone Experimental Phase 4 53-06-5 222786
7 Anti-Inflammatory Agents Phase 4
8 Hydrocortisone hemisuccinate Phase 4
9 glucocorticoids Phase 4
10 Hydrocortisone 17-butyrate 21-propionate Phase 4
11 Gastrointestinal Agents Phase 4
12 Antiemetics Phase 4
13 Hormones Phase 4
14 Hormone Antagonists Phase 4
15 Antineoplastic Agents, Hormonal Phase 4
16
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
17
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
18
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
19
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
20
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
21
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
22 BB 1101 Phase 2, Phase 3
23 Pharmaceutical Solutions Phase 3
24 Methylprednisolone Acetate Phase 3
25 Hydrocortisone-17-butyrate Phase 3
26
Nifedipine Approved Phase 1, Phase 2 21829-25-4 4485
27
Amlodipine Approved Phase 2 88150-42-9 2162
28
Polyestradiol phosphate Approved Phase 2 28014-46-2
29
Flutamide Approved, Investigational Phase 2 13311-84-7 3397
30
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
31
Testolactone Approved, Investigational Phase 2 968-93-4 13769
32
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
33
Testosterone Approved, Investigational Phase 2 58-22-0 6013
34
Fludrocortisone Approved, Investigational Phase 2 127-31-1 31378
35 insulin Phase 2
36 Insulin, Globin Zinc Phase 2
37 Tocolytic Agents Phase 1, Phase 2
38 Vasodilator Agents Phase 2
39 calcium channel blockers Phase 2
40 Calcium, Dietary Phase 2
41 Antihypertensive Agents Phase 2
42 Estrogen Antagonists Phase 2
43 Estrogen Receptor Antagonists Phase 2
44 Aromatase Inhibitors Phase 2
45 Estradiol 17 beta-cypionate Phase 2
46 Estradiol 3-benzoate Phase 2
47 Estrogens Phase 2
48 Nonsteroidal Anti-Androgens Phase 2
49 Androgen Antagonists Phase 2
50 Androgens Phase 2

Interventional clinical trials:

(show top 50) (show all 68)
# Name Status NCT ID Phase Drugs
1 Congenital Adrenal Hyperplasia: Innovative Once Daily Dual Release Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
2 Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency Not yet recruiting NCT04536662 Phase 4 Hydrocortisone;Prednisone;Dexamethasone
3 Comparative Study of the Use of Glucocorticoids in the Treatment of Congenital Adrenal Hyperplasia in Its Classical Form Unknown status NCT02552251 Phase 2, Phase 3
4 A Phase III Study of Efficacy, Safety and Tolerability of Chronocort® Compared With Standard Glucocorticoid Replacement Therapy in the Treatment of Congenital Adrenal Hyperplasia Completed NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
5 Open-label, Long-term Follow-up of Safety and Biochemical Disease Control of Infacort® in Neonates, Infants and Children With Congenital Adrenal Hyperplasia and Adrenal Insufficiency Previously Enrolled in the Infacort 003 Study Completed NCT02733367 Phase 3 Infacort®
6 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Pediatric Subjects With Classic Congenital Adrenal Hyperplasia, Followed by Open-Label Treatment Recruiting NCT04806451 Phase 3 Crinecerfont;Placebo;Crinecerfont
7 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Adult Subjects With Classic Congenital Adrenal Hyperplasia, Followed by Open-Label Treatment Recruiting NCT04490915 Phase 3 Crinecerfont;Placebo
8 A Phase III Extension Study of Efficacy, Safety and Tolerability of Chronocort® in the Treatment of Congenital Adrenal Hyperplasia Active, not recruiting NCT03062280 Phase 3 Hydrocortisone
9 An Open-label, Randomized, Titration-blinded, Phase III Study of Efficacy, Safety and Tolerability Of Chronocort® Compared With Standard Glucocorticoid REeplacement Therapy in the Treatment of Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia Suspended NCT03532022 Phase 3 Chronocort®;Standard Care
10 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Unknown status NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
11 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
12 A Phase 2 Pilot Study to Characterize and Examine the Pharmacokinetics and Disease Bio-marker Response of Chronocort® in Adults With Congenital Adrenal Hyperplasia Completed NCT01735617 Phase 2 Hydrocortisone Modified Release Capsules
13 A Phase 2, Multicenter Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
14 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
15 A 3-Month Phase 2 Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia Completed NCT03687242 Phase 2 SPR001
16 A Phase 2, Open-Label, Multiple-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adult Subjects With Congenital Adrenal Hyperplasia Completed NCT03525886 Phase 2 NBI-74788
17 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
18 A Pilot Study Assessing the Use of Continuous Subcutaneous Hydrocortisone Infusion in the Treatment of Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
19 A Phase 2, Multiple-Dose, Dose-Escalation Study to Evaluate the Safety and Efficacy of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia (CAH) Completed NCT03257462 Phase 2 SPR001
20 A Phase 2, Open Label, Crossover Pharmacokinetic and Pharmacodynamic Study to Compare Chronocort Versus Cortef in Patients With CAH Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
21 A Randomized, Double-Blind, Placebo-Controlled, Dose-Ranging Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Adult Subjects With Classic Congenital Adrenal Hyperplasia Recruiting NCT04457336 Phase 2 Tildacerfont/Placebo
22 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Reducing Supraphysiologic Glucocorticoid Use in Adult Subjects With Classic Congenital Adrenal Hyperplasia Recruiting NCT04544410 Phase 2 Tildacerfont/Placebo
23 A Phase 2, Open-Label, Multiple-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Pediatric Subjects With Congenital Adrenal Hyperplasia Recruiting NCT04045145 Phase 2 NBI-74788
24 Calcium Channel Blockade in Primary Aldosteronism Recruiting NCT04179019 Phase 2 Amlodipine
25 An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children With Congenital Adrenal Hyperplasia Active, not recruiting NCT00001521 Phase 2 Flutamide;Letrozole;Hydrocortisone;Fludrocortisone
26 A Phase 1/2, First-in-Human, Open-Label, Dose-Escalation Study of the Safety and Efficacy of Gene Therapy for Congenital Adrenal Hyperplasia Through Administration of an Adeno-Associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human CYP21A2 Gene Not yet recruiting NCT04783181 Phase 1, Phase 2
27 A Phase 1-2 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children With Classic 21-Hydroxylase Deficiency Not yet recruiting NCT03548246 Phase 2 Abiraterone acetate;Placebo;Hydrocortisone;Fludrocortisone
28 A Multicenter Dose-Titration Open-Label Study of Nevanimibe Hydrochloride for the Treatment of Classic Congenital Adrenal Hyperplasia Terminated NCT03669549 Phase 2 Nevanimibe hydrochloride
29 An Open Label, Randomised, Single Dose, 3-period Crossover Study in Healthy Volunteers to: a) Compare the Pharmacokinetics of Chronocort® Formulations Versus Immediate Release Hydrocortisone, and (b) Determine the Dose Proportionality of Chronocort® Formulations Completed NCT03019614 Phase 1 Hydrocortisone;Chronocort
30 An Open-Label, Multiple-Dose, Dose-Finding Study of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
31 A Two-part Open Label, Randomised, Single Dose, Crossover Study in Healthy Volunteers to: (Part A) Compare the Pharmacokinetics of up to 6 Chronocort® Formulations, and (Part B) Determine the Dose Proportionality of a Selected Chronocort® Formulation at Three Dose Levels With an Additional Comparison With the Selected Formulation Dosed on Two Occasions Over a 24 Hour Period Completed NCT03051893 Phase 1 Chronocort
32 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
33 A Phase 1 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children With Classic 21-Hydroxylase Deficiency Active, not recruiting NCT02574910 Phase 1 Abiraterone acetate
34 A Phase 1, Open-Label, Single-Dose, Sequential Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
35 Multicentric Evaluation of in Utero Dexamethasone (DEX) on the Cognitive Development of Children at Risk of Congenital Adrenal Hyperplasia Unknown status NCT02795871
36 Long-Term Outcome in Offspring and Mothers of Dexamethasone-Treated Pregnancies at Risk for Classical Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency Unknown status NCT00617292
37 LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening: a Pilot, Multicenter, Prospective Study Unknown status NCT03589144
38 Evaluation of Adrenocortical Functions by Insulin Tolerance Test and Sodium Depletion in Women With Nonclassical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Comparison With Healthy Volunteers. Unknown status NCT01862380
39 Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency Unknown status NCT00694525
40 Prevalence of Mutations of Glucocorticoid Receptors in Bilateral Adrenal Hyperplasia Unknown status NCT02810496
41 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
42 Evaluation of the Adult Height Gain With Growth Hormone Treatment in Children With Congenital Adrenal Hyperplasia (CDAH), Using the OPALE Prediction Model Completed NCT03162172
43 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
44 Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
45 A Novel Therapeutic Modality for Congenital Adrenal Hyperplasia Completed NCT00529841 Hydrocortisone sodium acetate
46 Evaluation of Cardiovascular Risk Profile in Adult Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency Diagnosed During Childhood Completed NCT01807364
47 Effects of Pioglitazone in Glucocorticoid-Induced Insulin Resistance. Studies in Congenital Adrenal Hyperplasia. Completed NCT00151710 Pioglitazone
48 Catecholamine Reserve and Exercise Tolerance in Subjects With Congenital Adrenal Hyperplasia and Healthy Controls Completed NCT00011791
49 An Adult Height Prediction Model for Congenital Adrenal Hyperplasia From a National Cohort (OPALE Model Study) Completed NCT03162159
50 "Gender Development in Early Adolescence: Prenatal Hormones and Family Socialization" Completed NCT01184651

Search NIH Clinical Center for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Hydrocortisone
hydrocortisone acetate
HYDROCORTISONE ACETATE PWDR
HYDROCORTISONE ACETONIDE
Hydrocortisone butyrate
hydrocortisone cypionate
hydrocortisone probutate
HYDROCORTISONE PWDR
Hydrocortisone sodium phosphate
Hydrocortisone sodium succinate
hydrocortisone valerate
HYDROCORTISONE,NONSTERILE PWDR

Cochrane evidence based reviews: adrenogenital syndrome

Genetic Tests for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Genetic tests related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

# Genetic test Affiliating Genes
1 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 29 CYP11A1

Anatomical Context for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

MalaCards organs/tissues related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

40
Adrenal Gland, Uterus, Bone, Endothelial, Cortex, Ovary, Adrenal Cortex

Publications for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Articles related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

(show all 19)
# Title Authors PMID Year
1
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. 6 57 61
21159840 2011
2
A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. 6 57 61
19116240 2009
3
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. 6 61 57
18182448 2008
4
Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. 57 6
16705068 2006
5
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. 6 57
15507506 2005
6
Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. 6 57
12161514 2002
7
Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. 6 57
11502818 2001
8
Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme. 57
7682938 1993
9
[Dizygotic pregnancy as a possible mechanism of fetal gestation with a biallel mutation in the CYP11A1 gene: clinical case description]. 61
33351358 2020
10
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis. 61
31917682 2020
11
Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency. 61
30299480 2019
12
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. 61
29566378 2018
13
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic. 61
27008691 2016
14
Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. 61
23158025 2013
15
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. 61
23337730 2013
16
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia. 61
21164259 2011
17
P450scc deficiency (congenital lipoid adrenal hyperplasia): first reported case in Thailand and literature review. 61
8855637 1996
18
Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression. 61
1611996 1992
19
Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia). 61
1668380 1991

Variations for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

ClinVar genetic disease variations for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP11A1 NM_000781.3(CYP11A1):c.809_814dup (p.Val272_Ile273insGlyAsp) Duplication Pathogenic 17516 GRCh37: 15:74636144-74636145
GRCh38: 15:74343803-74343804
2 CYP11A1 NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) SNV Pathogenic 17517 rs72547508 GRCh37: 15:74632028-74632028
GRCh38: 15:74339687-74339687
3 CYP11A1 NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val) SNV Pathogenic 17518 rs121912811 GRCh37: 15:74637444-74637444
GRCh38: 15:74345103-74345103
4 CYP11A1 NM_000781.3(CYP11A1):c.835del (p.Ile279fs) Deletion Pathogenic 265094 rs757299093 GRCh37: 15:74635473-74635473
GRCh38: 15:74343132-74343132
5 CYP11A1 NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val) SNV Pathogenic 17520 rs121912812 GRCh37: 15:74632009-74632009
GRCh38: 15:74339668-74339668
6 CYP11A1 NM_000781.3(CYP11A1):c.625+2dup Duplication Pathogenic 17521 GRCh37: 15:74637382-74637383
GRCh38: 15:74345041-74345042
7 CYP11A1 NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp) SNV Pathogenic 17522 rs121912813 GRCh37: 15:74640244-74640244
GRCh38: 15:74347903-74347903
8 CYP11A1 NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu) SNV Pathogenic 17523 rs121912814 GRCh37: 15:74631102-74631102
GRCh38: 15:74338761-74338761
9 CYP11A1 NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro) SNV Pathogenic 29625 rs387906601 GRCh37: 15:74636294-74636294
GRCh38: 15:74343953-74343953
10 CYP11A1 NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) SNV Likely pathogenic 280943 rs886041121 GRCh37: 15:74635340-74635340
GRCh38: 15:74342999-74342999
11 CYP11A1 NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter) SNV Likely pathogenic 930031 GRCh37: 15:74640275-74640275
GRCh38: 15:74347934-74347934
12 CYP11A1 NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) Deletion Conflicting interpretations of pathogenicity 631742 rs1567053134 GRCh37: 15:74637501-74637502
GRCh38: 15:74345160-74345161
13 CYP11A1 NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) SNV Conflicting interpretations of pathogenicity 372354 rs6161 GRCh37: 15:74635368-74635368
GRCh38: 15:74343027-74343027
14 CYP11A1 NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) SNV Conflicting interpretations of pathogenicity 317132 rs143655263 GRCh37: 15:74659692-74659692
GRCh38: 15:74367351-74367351
15 LOC108964933 , CYP11A1 NM_000781.3(CYP11A1):c.-35A>G SNV Uncertain significance 317135 rs886051481 GRCh37: 15:74659961-74659961
GRCh38: 15:74367620-74367620
16 CYP11A1 NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) SNV Uncertain significance 403725 rs1060499732 GRCh37: 15:74635371-74635371
GRCh38: 15:74343030-74343030
17 CYP11A1 NM_000781.3(CYP11A1):c.625+15A>G SNV Uncertain significance 888157 GRCh37: 15:74637370-74637370
GRCh38: 15:74345029-74345029
18 CYP11A1 NM_000781.3(CYP11A1):c.1073C>T (p.Ala358Val) SNV Uncertain significance 886878 GRCh37: 15:74632012-74632012
GRCh38: 15:74339671-74339671
19 CYP11A1 NM_000781.3(CYP11A1):c.999G>A (p.Met333Ile) SNV Uncertain significance 886879 GRCh37: 15:74632086-74632086
GRCh38: 15:74339745-74339745
20 CYP11A1 NM_000781.3(CYP11A1):c.915C>G (p.Leu305=) SNV Uncertain significance 886880 GRCh37: 15:74635393-74635393
GRCh38: 15:74343052-74343052
21 CYP11A1 NM_000781.3(CYP11A1):c.757G>C (p.Asp253His) SNV Uncertain significance 888156 GRCh37: 15:74636202-74636202
GRCh38: 15:74343861-74343861
22 CYP11A1 NM_000781.3(CYP11A1):c.280G>A (p.Gly94Ser) SNV Uncertain significance 885038 GRCh37: 15:74640386-74640386
GRCh38: 15:74348045-74348045
23 CYP11A1 NM_000781.3(CYP11A1):c.261G>A (p.Pro87=) SNV Uncertain significance 723084 rs141375785 GRCh37: 15:74659666-74659666
GRCh38: 15:74367325-74367325
24 CYP11A1 NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys) SNV Uncertain significance 885039 GRCh37: 15:74659902-74659902
GRCh38: 15:74367561-74367561
25 CYP11A1 NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu) SNV Uncertain significance 885040 GRCh37: 15:74659904-74659904
GRCh38: 15:74367563-74367563
26 CYP11A1 NM_000781.3(CYP11A1):c.1167C>T (p.Pro389=) SNV Uncertain significance 724849 rs138177167 GRCh37: 15:74631647-74631647
GRCh38: 15:74339306-74339306
27 CYP11A1 NM_000781.3(CYP11A1):c.269+4A>G SNV Uncertain significance 317131 rs199573967 GRCh37: 15:74659654-74659654
GRCh38: 15:74367313-74367313
28 CYP11A1 NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) SNV Uncertain significance 317134 rs150725205 GRCh37: 15:74659841-74659841
GRCh38: 15:74367500-74367500
29 CYP11A1 NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) SNV Uncertain significance 317123 rs886051479 GRCh37: 15:74631613-74631613
GRCh38: 15:74339272-74339272
30 CYP11A1 NM_000781.3(CYP11A1):c.1164C>T (p.His388=) SNV Uncertain significance 317124 rs537187397 GRCh37: 15:74631650-74631650
GRCh38: 15:74339309-74339309
31 LOC108964933 , CYP11A1 NM_000781.3(CYP11A1):c.-59A>G SNV Uncertain significance 317136 rs567971184 GRCh37: 15:74659985-74659985
GRCh38: 15:74367644-74367644
32 CYP11A1 NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) SNV Uncertain significance 317133 rs141127674 GRCh37: 15:74659834-74659834
GRCh38: 15:74367493-74367493
33 CYP11A1 NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) SNV Uncertain significance 317128 rs886051480 GRCh37: 15:74637421-74637421
GRCh38: 15:74345080-74345080
34 CYP11A1 NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) SNV Uncertain significance 317125 rs764270391 GRCh37: 15:74631986-74631986
GRCh38: 15:74339645-74339645
35 CYP11A1 NM_000781.3(CYP11A1):c.567G>A (p.Ala189=) SNV Uncertain significance 317129 rs770022852 GRCh37: 15:74637443-74637443
GRCh38: 15:74345102-74345102
36 CYP11A1 NM_000781.3(CYP11A1):c.371C>T (p.Pro124Leu) SNV Uncertain significance 888158 GRCh37: 15:74640295-74640295
GRCh38: 15:74347954-74347954
37 CYP11A1 NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) SNV Likely benign 317130 rs530494910 GRCh37: 15:74640300-74640300
GRCh38: 15:74347959-74347959
38 CYP11A1 NM_000781.3(CYP11A1):c.830-14C>G SNV Likely benign 317127 rs190239248 GRCh37: 15:74635492-74635492
GRCh38: 15:74343151-74343151
39 CYP11A1 NM_000781.3(CYP11A1):c.1158-5C>T SNV Likely benign 735655 rs377242922 GRCh37: 15:74631661-74631661
GRCh38: 15:74339320-74339320
40 CYP11A1 NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala) SNV Likely benign 434877 rs143879080 GRCh37: 15:74636309-74636309
GRCh38: 15:74343968-74343968
41 CYP11A1 NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) SNV Benign 780058 rs58174009 GRCh37: 15:74637475-74637475
GRCh38: 15:74345134-74345134
42 CYP11A1 NM_000781.3(CYP11A1):c.1091A>G (p.Gln364Arg) SNV Benign 750377 rs57982762 GRCh37: 15:74631994-74631994
GRCh38: 15:74339653-74339653
43 CYP11A1 NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) SNV Benign 317126 rs4986873 GRCh37: 15:74635369-74635369
GRCh38: 15:74343028-74343028

UniProtKB/Swiss-Prot genetic disease variations for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

72
# Symbol AA change Variation ID SNP ID
1 CYP11A1 p.Ala189Val VAR_016949 rs121912811
2 CYP11A1 p.Arg353Trp VAR_016951 rs72547508
3 CYP11A1 p.Leu141Trp VAR_065241 rs121912813
4 CYP11A1 p.Leu222Pro VAR_065242 rs387906601
5 CYP11A1 p.Ala359Val VAR_065243 rs121912812
6 CYP11A1 p.Val415Glu VAR_065244 rs121912814

Expression for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Search GEO for disease gene expression data for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete.

Pathways for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Pathways related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

Pathways related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 STAR POR POMC NNT HSD3B2 FDXR
2
Show member pathways
12.96 POR POMC FDXR FDX1 CYP21A2 CYP17A1
3
Show member pathways
12.47 STAR POMC NR0B1 HSD3B2 CYP21A2 CYP17A1
4
Show member pathways
11.64 POMC FDXR FDX1 CYP11A1
5
Show member pathways
11.45 HSD3B2 CYP21A2 CYP17A1 CYP11A1
6 11.32 STAR POMC HSD3B2 CYP21A2 CYP11A1
7 11.27 STAR HSD3B2 CYP17A1 CYP11A1
8
Show member pathways
11.13 STAR POMC HSD3B2 FDXR FDX1 CYP21A2
9
Show member pathways
10.8 CYP21A2 CYP17A1
10 10.41 FDXR FDX1

GO Terms for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Cellular components related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.55 POR NR0B1 HSD3B2 CYP21A2 CYP17A1
2 mitochondrial inner membrane GO:0005743 9.26 NNT HSD3B2 FDXR CYP11A1
3 mitochondrion GO:0005739 9.17 STAR POR NNT HSD3B2 FDXR FDX1

Biological processes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.86 POR NNT HSD3B2 FDXR FDX1 CYP21A2
2 steroid metabolic process GO:0008202 9.77 FDXR FDX1 CYP21A2 CYP17A1 CYP11A1
3 cholesterol metabolic process GO:0008203 9.71 STAR FDXR FDX1 CYP11A1
4 sterol metabolic process GO:0016125 9.62 FDXR FDX1 CYP21A2 CYP11A1
5 generation of precursor metabolites and energy GO:0006091 9.56 POMC FDXR
6 cellular response to peptide hormone stimulus GO:0071375 9.55 POR CYP11A1
7 response to corticosterone GO:0051412 9.54 STAR HSD3B2
8 hormone biosynthetic process GO:0042446 9.52 FDX1 CYP17A1
9 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.51 STAR POR
10 androgen biosynthetic process GO:0006702 9.49 HSD3B2 CYP17A1
11 cellular response to gonadotropin stimulus GO:0071371 9.48 STAR POR
12 C21-steroid hormone metabolic process GO:0008207 9.46 HSD3B2 CYP11A1
13 C21-steroid hormone biosynthetic process GO:0006700 9.46 STAR FDXR FDX1 CYP11A1
14 mineralocorticoid biosynthetic process GO:0006705 9.43 HSD3B2 CYP21A2
15 glucocorticoid biosynthetic process GO:0006704 9.26 HSD3B2 CYP21A2 CYP17A1 CYP11A1
16 steroid biosynthetic process GO:0006694 9.17 STAR HSD3B2 FDXR FDX1 CYP21A2 CYP17A1

Molecular functions related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.5 CYP21A2 CYP17A1 CYP11A1
2 monooxygenase activity GO:0004497 9.43 CYP21A2 CYP17A1 CYP11A1
3 NADP binding GO:0050661 9.37 POR NNT
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.33 CYP21A2 CYP17A1 CYP11A1
5 iron ion binding GO:0005506 9.26 FDX1 CYP21A2 CYP17A1 CYP11A1
6 oxidoreductase activity GO:0016491 9.17 POR NNT HSD3B2 FDXR CYP21A2 CYP17A1

Sources for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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