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

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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 11 38 71
P450scc Deficiency 57 11 73 5
Congenital Adrenal Insufficiency 11 5 14
46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency 58
Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 57
Adrenal Insufficiency Congenital with 46,xy Sex Reversal Partial or Complete 73
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal 73
Adrenal Insufficiency, Congenital 71
Xy Sex Reversal-Adrenal Failure 58
Congenital Adrenal Hyperplasia 71
Adrenogenital Syndrome 71
Aicsr 73

Characteristics:


Inheritance:

46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency: Autosomal dominant,Autosomal recessive 58

Prevelance:

46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency: Infancy,Neonatal 58

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

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

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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 08-Dec-2022)

MalaCards based summary: Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete, also known as p450scc deficiency, is related to premature ovarian failure 7 and acute adrenal insufficiency. 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 Metabolism and Disease. The drugs Hydrocortisone succinate 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

Orphanet: 58 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.
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Related Diseases for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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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 85)
# Related Disease Score Top Affiliating Genes
1 premature ovarian failure 7 30.2 POMC NR5A1
2 acute adrenal insufficiency 30.0 POMC CYP21A2 CYP11A1
3 central precocious puberty 29.9 POMC NR0B1
4 hypospadias 29.4 NR5A1 HSD3B2 HSD17B3 CYP17A1 CYP11A1
5 premature menopause 28.9 STAR POR POMC NR5A1 NR0B1 CYP21A2
6 hypoadrenocorticism, familial 28.7 STAR POMC NR5A1 NR0B1 MC2R HSD3B2
7 cryptorchidism, unilateral or bilateral 28.6 STAR POMC NR5A1 NR0B1 HSD3B2 HSD17B3
8 adrenal hypoplasia, congenital 28.5 STAR SAMD9 POMC NR5A1 NR0B1 MC2R
9 pseudohermaphroditism 28.0 STAR POR POMC NR5A1 NR0B1 HSD3B2
10 lipoid congenital adrenal hyperplasia 27.4 STAR POR POMC NR5A1 NR0B1 MC2R
11 hermaphroditism 10.2 NR5A1 NR0B1
12 schizophrenia 14 10.2 STAR POMC
13 waterhouse-friderichsen syndrome 10.2 POMC MC2R
14 45,x/46,xy mixed gonadal dysgenesis 10.2 NR5A1 NR0B1
15 luteoma 10.1 STAR CYP21A2
16 primary adrenal insufficiency 10.1
17 pituitary-dependent cushing's disease 10.1 POMC MC2R
18 gender incongruence 10.1 CYP21A2 CYP17A1
19 ovarian dysgenesis 2 10.1 NR0B1 CYP17A1
20 corticosteroid-binding globulin deficiency 10.1 POMC MC2R
21 46,xy partial gonadal dysgenesis 10.1 NR5A1 NR0B1
22 smith-lemli-opitz syndrome 10.1 STAR CYP17A1 CYP11A1
23 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.1 CYP21A2 CYP17A1 CYP11A1
24 glucocorticoid deficiency 1 10.1 POMC MC2R
25 46,xx sex reversal 1 10.1 NR5A1 NR0B1
26 hypoglycemia 10.1
27 sebaceous gland disease 10.0 POMC CYP21A2 CYP17A1
28 cloacal exstrophy 10.0 POR NR5A1 CYP21A2
29 acne 10.0 POMC CYP21A2 CYP17A1
30 amenorrhea 10.0 POMC NR5A1 CYP17A1
31 gynecomastia 10.0 POR POMC HSD17B3
32 precocious puberty, male-limited 10.0 POMC CYP21A2
33 46,xx sex reversal 10.0 NR5A1 NR0B1 HSD17B3
34 down syndrome 10.0
35 apparent mineralocorticoid excess 9.9 POMC CYP11B1
36 glycerol kinase deficiency 9.9 POR POMC NR5A1 NR0B1
37 inguinal hernia 9.9 POMC NR5A1 HSD17B3
38 acth-independent macronodular adrenal hyperplasia 9.9 POMC MC2R CYP11B1
39 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.9
40 retinitis pigmentosa 9.9
41 late-onset retinal degeneration 9.9
42 metabolic acidosis 9.9
43 hypogonadism 9.9
44 lymphopenia 9.9
45 precocious puberty 9.9
46 hypotonia 9.9
47 hypokalemia 9.9 POMC CYP17A1 CYP11B1
48 gonadoblastoma 9.8 NR5A1 NR0B1
49 mixed gonadal dysgenesis 9.8 NR5A1 NR0B1 HSD17B3 CYP21A2
50 androgen insensitivity syndrome 9.8 NR5A1 NR0B1 HSD17B3 CYP17A1

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
Sources

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

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

58 30 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001274
2 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001508
3 hypotension 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002615
4 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002750
5 delayed puberty 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000823
6 dehydration 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001944
7 vomiting 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002013
8 cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000028
9 osteoporosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000939
10 decreased fertility 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000144
11 hyponatremia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002902
12 gynecomastia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000771
13 hyperkalemia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002153
14 decreased testicular size 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008734
15 male pseudohermaphroditism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000037
16 neonatal hypoglycemia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001998
17 ambiguous genitalia, male 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000033
18 urogenital sinus anomaly 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100779
19 feeding difficulties 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011968
20 aplasia of the uterus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000151
21 decreased circulating aldosterone level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004319
22 sex reversal 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012245
23 increased circulating acth level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003154
24 female external genitalia in individual with 46,xy karyotype 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008730
25 absence of secondary sex characteristics 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008187
26 hypovolemia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011106
27 renal salt wasting 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000127
28 increased circulating renin level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000848
29 acidosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001941
30 hypernatriuria 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012605
31 generalized bronze hyperpigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0007574
32 decreased circulating cortisol level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008163
33 abnormality of the leydig cells 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010789
34 adrenocorticotropic hormone excess 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011749
35 abnormal urine potassium concentration 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012598
36 induced vaginal delivery 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0030369
37 low maternal circulating estriol concentration 30 Hallmark (90%) HP:0008073
38 abnormal circulating cholesterol concentration 30 Hallmark (90%) HP:0003107
39 decreased circulating androgen concentration 30 Hallmark (90%) HP:0030349
40 premature birth 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001622
41 adrenal hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000835
42 elevated circulating follicle stimulating hormone level 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008232
43 elevated circulating luteinizing hormone level 58 30 Frequent (33%) Frequent (79-30%)
 HP:0011969
44 midshaft hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012854
45 clitoral hypertrophy 30 Occasional (7.5%) HP:0008665
46 reduced bone mineral density 58 Very frequent (99-80%)
47 hyperaldosteronism 30 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 08-Dec-2022)

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

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.13 CYP11A1 CYP17A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.13 CYP11A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.13 CYP17A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-117 10.13 FDX1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.13 CYP11A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.13 FDX1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.13 FDX1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.13 FDX1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.13 CYP17A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.13 FDX1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.13 CYP11A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.13 CYP17A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-184 10.13 CYP11A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.13 FDX1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.13 CYP11A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.13 CYP17A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.13 CYP17A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.13 CYP17A1
19 no effect GR00402-S-1 10.07 CYP11A1 CYP11B1 CYP17A1 CYP21A2 FDXR HSD17B3
20 no effect GR00402-S-2 10.07 CYP11A1 CYP11B1 CYP17A1 CYP21A2 FDX1 FDXR
21 Reduced mammosphere formation GR00396-S 9.5 CYP11B1 CYP21A2 HSD3B2 MC2R NR0B1 POMC

MGI Mouse Phenotypes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 CYP11A1 CYP11B1 CYP17A1 FDXR HSD17B3 MC2R
2 endocrine/exocrine gland MP:0005379 9.9 CYP11A1 CYP11B1 FDXR HSD17B3 MC2R NNT
3 behavior/neurological MP:0005386 9.7 CYP11A1 CYP11B1 CYP17A1 CYP21A2 FDX1 FDXR
4 mortality/aging MP:0010768 9.36 CYP11A1 CYP11B1 CYP17A1 CYP21A2 FDX1 FDXR
Sources

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

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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 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
2
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
6
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
7
Cortisone Experimental Phase 4 53-06-5 222786
8 Hydrocortisone 17-butyrate 21-propionate Phase 4
9 Anti-Inflammatory Agents Phase 4
10 Antineoplastic Agents, Hormonal Phase 4
11 Hormones Phase 4
12 Hormone Antagonists Phase 4
13 Antiemetics Phase 4
14 glucocorticoids Phase 4
15 Gastrointestinal Agents Phase 4
16 Pharmaceutical Solutions Phase 3
17
Nifedipine Approved Phase 1, Phase 2 21829-25-4 4485
18
Amlodipine Approved Phase 2 88150-42-9 2162
19
Flutamide Approved, Investigational Phase 2 13311-84-7 3397
20
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
21
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
22
Polyestradiol phosphate Approved Phase 2 28014-46-2
23
Testosterone Approved, Investigational Phase 2 58-22-0 5408 6013
24
Testolactone Approved, Investigational Phase 2 968-93-4 13769
25
Fludrocortisone Approved, Investigational Phase 2 127-31-1 31378
26 BB 1101 Phase 2
27 Insulin, Globin Zinc Phase 2
28
Insulin Phase 2
29 Tocolytic Agents Phase 1, Phase 2
30 Vasodilator Agents Phase 2
31 Calcium, Dietary Phase 2
32 calcium channel blockers Phase 2
33 Antihypertensive Agents Phase 2
34 Estrogens Phase 2
35 Estrogen Receptor Antagonists Phase 2
36 Estrogen Antagonists Phase 2
37 Estradiol 3-benzoate Phase 2
38 Estradiol 17 beta-cypionate Phase 2
39 Nonsteroidal Anti-Androgens Phase 2
40 Androgen Antagonists Phase 2
41 Aromatase Inhibitors Phase 2
42 17 alpha-Hydroxyprogesterone Caproate Phase 2
43 11-hydroxyprogesterone Phase 2
44 Androgens Phase 2
45
Abiraterone Acetate Phase 2 154229-18-2 9821849
46 Cytochrome P-450 Enzyme Inhibitors Phase 2
47
Calcium Nutraceutical Phase 2 7440-70-2 271
48
Lidocaine Approved, Vet_approved 137-58-6 3676
49
Pioglitazone Approved, Investigational 111025-46-8 4829
50
Tetracosactide Approved 16960-16-0 16133802 16129617

Interventional clinical trials:

(show top 50) (show all 77)
# 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 Extension Study of Efficacy, Safety and Tolerability of Chronocort® in the Treatment of Congenital Adrenal Hyperplasia Completed NCT03062280 Phase 3 Hydrocortisone
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 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
7 A Randomized, Double-Blind, Active-Controlled, Phase 3 Study of Chronocort Compared With Immediate-Release Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia Recruiting NCT05063994 Phase 3 Chronocort;Cortef
8 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
9 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
10 A Phase 3 Open-Label Extension Study to Evaluate the Long-term Safety and Tolerability of Chronocort in the Treatment of Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia Enrolling by invitation NCT05299554 Phase 3 Chronocort
11 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 Withdrawn NCT03532022 Phase 3 Chronocort®;Standard Care
12 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
13 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Unknown status NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
14 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
15 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
16 A Pilot Study Assessing the Use of Continuous Subcutaneous Hydrocortisone Infusion in the Treatment of Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
17 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
18 A Phase 2, Multicenter Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
19 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
20 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
21 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 Completed NCT04045145 Phase 2 NBI-74788
22 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
23 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
24 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 Recruiting NCT04783181 Phase 1, Phase 2
25 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
26 A Phase 2 Study to Evaluate the Safety, Pharmacokinetics, and Exploratory Pharmacodynamics of SPR001 (Tildacerfont) in Children Aged 6 to 17 Years With Congenital Adrenal Hyperplasia Recruiting NCT05128942 Phase 2 Tildacerfont
27 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
28 Calcium Channel Blockade in Primary Aldosteronism Recruiting NCT04179019 Phase 2 Amlodipine
29 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
30 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
31 A Multicenter Dose-Titration Open-Label Study of Nevanimibe Hydrochloride for the Treatment of Classic Congenital Adrenal Hyperplasia Terminated NCT03669549 Phase 2 Nevanimibe hydrochloride
32 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
33 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
34 An Open-Label, Multiple-Dose, Dose-Finding Study of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
35 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Active, not recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
36 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
37 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
38 Final Height in Patients With Congenital Adrenal Hyperplasia Unknown status NCT04293133
39 Linear Growth of Children With Congenital Adrenal Hyperplasia. Unknown status NCT04087148
40 Multicentric Evaluation of in Utero Dexamethasone (DEX) on the Cognitive Development of Children at Risk of Congenital Adrenal Hyperplasia Unknown status NCT02795871
41 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
42 Surgical Evaluation Of Using The Inner Surface Of The Prepuce In Feminizing Genitoplasty In Cases Of Verilized Females With Congenital Adrenal Hyperplasia Unknown status NCT03897504
43 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
44 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
45 Dynamic Hormone Diagnostics (Ultradian) Unknown status NCT02934399
46 Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency Unknown status NCT00694525
47 Prevalence of Mutations of Glucocorticoid Receptors in Bilateral Adrenal Hyperplasia Unknown status NCT02810496
48 A Novel Therapeutic Modality for Congenital Adrenal Hyperplasia Completed NCT00529841 Hydrocortisone sodium acetate
49 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
50 Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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
Sources

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

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Sources

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

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

MalaCards : Adrenal Gland, Uterus, Bone, Endothelial, Skin
Sources

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

About this section

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

(show all 43)
# Title Authors PMID Year
1
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. 62 57 5
21159840 2011
2
A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. 62 57 5
19116240 2009
3
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. 62 57 5
18182448 2008
4
Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. 62 57 5
12161514 2002
5
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 5
16705068 2006
6
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. 57 5
15507506 2005
7
Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. 57 5
11502818 2001
8
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1). 5
21880796 2011
9
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
10
A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient. 62
32000563 2021
11
A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development. 62
34281122 2021
12
Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant. 62
34629738 2021
13
[Dizygotic pregnancy as a possible mechanism of fetal gestation with a biallel mutation in the CYP11A1 gene: clinical case description]. 62
33351358 2020
14
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis. 62
31917682 2020
15
A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report. 62
31666050 2019
16
Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency. 62
30299480 2019
17
Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma. 62
29850793 2018
18
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. 62
29566378 2018
19
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency. 62
29178636 2017
20
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. 62
28181337 2017
21
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects. 62
27129361 2016
22
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic. 62
27008691 2016
23
Hydrocortisone malabsorption due to polyethylene glycols (Macrogol 3350) in a girl with congenital adrenal insufficiency. 62
25255796 2014
24
Proopiomelanocortin Deficiency – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
24354022 2013
25
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test. 62
24265530 2013
26
Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. 62
23158025 2013
27
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. 62
23337730 2013
28
[Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene]. 62
22824007 2013
29
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia. 62
21164259 2011
30
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation. 62
21860632 2011
31
A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 62
19636199 2009
32
Allgrove syndrome--a syndrome of primary adrenocortical insufficiency with achalasia of the cardia and deficient tear production. 62
14621049 2003
33
[Monogenic forms of obesity: from mice to human]. 62
11148335 2000
34
Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers. 62
9285947 1997
35
P450scc deficiency (congenital lipoid adrenal hyperplasia): first reported case in Thailand and literature review. 62
8855637 1996
36
Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression. 62
1611996 1992
37
A rare complement component C4 restriction fragment length polymorphism in two families with systemic lupus erythematosus. 62
1677422 1991
38
Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia). 62
1668380 1991
39
Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels. 62
2846958 1988
40
[Chondrodysplastic nanism with congenital adrenal insufficiency and chronic lymphopenia. A new familial syndrome ((proceedings)]. 62
1005000 1976
41
High-resolution biomedical gas chromatography. Determination of human urinary steroid metabolites using glass open tubular capillary columns. 62
127000 1975
42
[Familial congenital adrenal insufficiency in infant]. 62
5913466 1966
43
[Female pseudohermaphroditism with congenital adrenal insufficiency; favorable effect of cortisone, desoxycorticosteronacetate and NaCl]. 62
14793864 1950
Sources

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

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

5 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP11A1 NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) SNV Pathogenic
 17517 rs72547508 GRCh37: 15:74632028-74632028
GRCh38: 15:74339687-74339687
2 CYP11A1 NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val) SNV Pathogenic
 17518 rs121912811 GRCh37: 15:74637444-74637444
GRCh38: 15:74345103-74345103
3 CYP11A1 NM_000781.3(CYP11A1):c.835del (p.Ile279fs) DEL Pathogenic
 265094 rs757299093 GRCh37: 15:74635473-74635473
GRCh38: 15:74343132-74343132
4 CYP11A1 NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val) SNV Pathogenic
 17520 rs121912812 GRCh37: 15:74632009-74632009
GRCh38: 15:74339668-74339668
5 CYP11A1 NM_000781.3(CYP11A1):c.625+2dup DUP Pathogenic
 17521 rs2060625814 GRCh37: 15:74637382-74637383
GRCh38: 15:74345041-74345042
6 CYP11A1 NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp) SNV Pathogenic
 17522 rs121912813 GRCh37: 15:74640244-74640244
GRCh38: 15:74347903-74347903
7 CYP11A1 NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu) SNV Pathogenic
 17523 rs121912814 GRCh37: 15:74631102-74631102
GRCh38: 15:74338761-74338761
8 CYP11A1 NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro) SNV Pathogenic
 29625 rs387906601 GRCh37: 15:74636294-74636294
GRCh38: 15:74343953-74343953
9 CYP11A1 NM_000781.3(CYP11A1):c.358del (p.Arg120fs) DEL Pathogenic
 1179133 GRCh37: 15:74640308-74640308
GRCh38: 15:74347967-74347967
10 CYP11A1 NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp) SNV Pathogenic
 1327913 GRCh37: 15:74630995-74630995
GRCh38: 15:74338654-74338654
11 CYP11A1 NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter) SNV Pathogenic
 1322181 GRCh37: 15:74636265-74636265
GRCh38: 15:74343924-74343924
12 CYP11A1 NM_000781.3(CYP11A1):c.809_814dup (p.Asp271_Val272insGlyAsp) DUP Pathogenic
 17516 rs2060619548 GRCh37: 15:74636144-74636145
GRCh38: 15:74343803-74343804
13 CYP11A1 NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter) SNV Likely Pathogenic
 930031 rs2060639501 GRCh37: 15:74640275-74640275
GRCh38: 15:74347934-74347934
14 CYP11A1 NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) SNV Likely Pathogenic
 280943 rs886041121 GRCh37: 15:74635340-74635340
GRCh38: 15:74342999-74342999
15 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
16 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
17 CYP11A1 NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) DEL Conflicting Interpretations Of Pathogenicity
 631742 rs1567053134 GRCh37: 15:74637501-74637502
GRCh38: 15:74345160-74345161
18 CYP11A1 NM_000781.3(CYP11A1):c.280G>A (p.Gly94Ser) SNV Uncertain Significance
 885038 rs190764523 GRCh37: 15:74640386-74640386
GRCh38: 15:74348045-74348045
19 CYP11A1 NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys) SNV Uncertain Significance
 885039 rs573648284 GRCh37: 15:74659902-74659902
GRCh38: 15:74367561-74367561
20 CYP11A1 NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu) SNV Uncertain Significance
 885040 rs2060740796 GRCh37: 15:74659904-74659904
GRCh38: 15:74367563-74367563
21 CYP11A1 NM_000781.3(CYP11A1):c.1073C>T (p.Ala358Val) SNV Uncertain Significance
 886878 rs2060597413 GRCh37: 15:74632012-74632012
GRCh38: 15:74339671-74339671
22 CYP11A1 NM_000781.3(CYP11A1):c.999G>A (p.Met333Ile) SNV Uncertain Significance
 886879 rs111361716 GRCh37: 15:74632086-74632086
GRCh38: 15:74339745-74339745
23 CYP11A1 NM_000781.3(CYP11A1):c.915C>G (p.Leu305=) SNV Uncertain Significance
 886880 rs148430549 GRCh37: 15:74635393-74635393
GRCh38: 15:74343052-74343052
24 CYP11A1 NM_000781.3(CYP11A1):c.757G>C (p.Asp253His) SNV Uncertain Significance
 888156 rs775022280 GRCh37: 15:74636202-74636202
GRCh38: 15:74343861-74343861
25 CYP11A1 NM_000781.3(CYP11A1):c.371C>T (p.Pro124Leu) SNV Uncertain Significance
 888158 rs541943607 GRCh37: 15:74640295-74640295
GRCh38: 15:74347954-74347954
26 CYP11A1 NM_000781.3(CYP11A1):c.261G>A (p.Pro87=) SNV Uncertain Significance
 723084 rs141375785 GRCh37: 15:74659666-74659666
GRCh38: 15:74367325-74367325
27 CYP11A1 NM_000781.3(CYP11A1):c.1164C>T (p.His388=) SNV Uncertain Significance
 317124 rs537187397 GRCh37: 15:74631650-74631650
GRCh38: 15:74339309-74339309
28 CYP11A1 NM_000781.3(CYP11A1):c.269+4A>G SNV Uncertain Significance
 317131 rs199573967 GRCh37: 15:74659654-74659654
GRCh38: 15:74367313-74367313
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.567G>A (p.Ala189=) SNV Uncertain Significance
 317129 rs770022852 GRCh37: 15:74637443-74637443
GRCh38: 15:74345102-74345102
31 LOC108964933, CYP11A1 NM_000781.3(CYP11A1):c.-35A>G SNV Uncertain Significance
 317135 rs886051481 GRCh37: 15:74659961-74659961
GRCh38: 15:74367620-74367620
32 CYP11A1 NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) SNV Uncertain Significance
 403725 rs1060499732 GRCh37: 15:74635371-74635371
GRCh38: 15:74343030-74343030
33 LOC108964933, CYP11A1 NM_000781.3(CYP11A1):c.-59A>G SNV Uncertain Significance
 317136 rs567971184 GRCh37: 15:74659985-74659985
GRCh38: 15:74367644-74367644
34 CYP11A1 NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) SNV Uncertain Significance
 317133 rs141127674 GRCh37: 15:74659834-74659834
GRCh38: 15:74367493-74367493
35 CYP11A1 NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) SNV Uncertain Significance
 317128 rs886051480 GRCh37: 15:74637421-74637421
GRCh38: 15:74345080-74345080
36 CYP11A1 NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) SNV Uncertain Significance
 317125 rs764270391 GRCh37: 15:74631986-74631986
GRCh38: 15:74339645-74339645
37 CYP11A1 NM_000781.3(CYP11A1):c.625+15A>G SNV Uncertain Significance
 888157 rs112977174 GRCh37: 15:74637370-74637370
GRCh38: 15:74345029-74345029
38 CYP11A1 NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) SNV Uncertain Significance
 317134 rs150725205 GRCh37: 15:74659841-74659841
GRCh38: 15:74367500-74367500
39 CYP11A1 NM_000781.3(CYP11A1):c.1167C>T (p.Pro389=) SNV Uncertain Significance
 724849 rs138177167 GRCh37: 15:74631647-74631647
GRCh38: 15:74339306-74339306
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.366C>T (p.Leu122=) SNV Likely Benign
 317130 rs530494910 GRCh37: 15:74640300-74640300
GRCh38: 15:74347959-74347959
42 CYP11A1 NM_000781.3(CYP11A1):c.830-14C>G SNV Likely Benign
 317127 rs190239248 GRCh37: 15:74635492-74635492
GRCh38: 15:74343151-74343151
43 CYP11A1 NM_000781.3(CYP11A1):c.1158-5C>T SNV Likely Benign
 735655 rs377242922 GRCh37: 15:74631661-74631661
GRCh38: 15:74339320-74339320
44 CYP11A1 NM_000781.3(CYP11A1):c.1091A>G (p.Gln364Arg) SNV Benign
 750377 rs57982762 GRCh37: 15:74631994-74631994
GRCh38: 15:74339653-74339653
45 CYP11A1 NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) SNV Benign
 317126 rs4986873 GRCh37: 15:74635369-74635369
GRCh38: 15:74343028-74343028
46 CYP11A1 NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) SNV Benign
 780058 rs58174009 GRCh37: 15:74637475-74637475
GRCh38: 15:74345134-74345134

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

73
# 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

Sources

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

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

About this section


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

# Pathway Source
1 Defective CYP11A1 causes AICSR Reactome 66

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.67 STAR POR POMC NNT HSD3B2 HSD17B3
2
Disease 66
Show member pathways
 13.56 POMC MC2R FDXR FDX1 CYP21A2 CYP17A1
3
Metapathway biotransformation Phase I and II 74
Show member pathways
 12.9 CYP11A1 CYP11B1 CYP17A1 CYP21A2 FDX1 FDXR
4
Diseases of glycosylation 66
Show member pathways
 12.65 CYP11A1 CYP11B1 CYP17A1 CYP21A2 FDX1 FDXR
5
Oxidation by cytochrome P450 74
Show member pathways
 12.61 POR POMC FDXR FDX1 CYP21A2 CYP17A1
6
Metabolism of steroids 66
Show member pathways
 12.42 CYP11A1 CYP11B1 CYP17A1 CYP21A2 FDX1 FDXR
7
Corticotropin-releasing hormone signaling pathway 74
11.76 STAR POMC HSD3B2 CYP21A2 CYP11B1 CYP11A1
8
Androstenedione and testosterone biosynthesis and metabolism p.1 22
Show member pathways
 11.53 HSD3B2 HSD17B3 CYP17A1 CYP11B1
9
Metabolism of steroid hormones 66
Show member pathways
 11.31 STAR POMC HSD3B2 HSD17B3 FDXR FDX1
10
Metabolic disorders of biological oxidation enzymes 66
11.27 FDXR FDX1 CYP21A2 CYP17A1 CYP11B1 CYP11A1
11
Kisspeptin/kisspeptin receptor system in the ovary 74
11.12 STAR CYP11A1
12
Mitochondrial iron-sulfur cluster biogenesis 66
Show member pathways
 10.66 FDXR FDX1
13
Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism 74
Show member pathways
 10.56 POR HSD3B2 CYP11A1
14
Alternative pathway of fetal androgen synthesis 74
10.47 STAR POR HSD3B2 HSD17B3 CYP17A1 CYP11A1
Sources

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

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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 mitochondrial inner membrane GO:0005743 9.85 NNT HSD3B2 FDXR CYP11B1 CYP11A1
2 mitochondrion GO:0005739 9.8 STAR POR NNT HSD3B2 FDXR FDX1
3 intracellular membrane-bounded organelle GO:0043231 9.4 SAMD9 POR NR0B1 HSD3B2 HSD17B3 CYP21A2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 10.02 STAR FDXR FDX1 CYP11B1 CYP11A1
2 sterol metabolic process GO:0016125 9.91 CYP21A2 CYP11B1 CYP11A1
3 cellular response to peptide hormone stimulus GO:0071375 9.88 POR CYP11B1 CYP11A1
4 hormone biosynthetic process GO:0042446 9.87 FDX1 CYP17A1
5 Leydig cell differentiation GO:0033327 9.86 NR5A1 NR0B1
6 lipid metabolic process GO:0006629 9.86 HSD3B2 HSD17B3 FDXR FDX1 CYP21A2 CYP17A1
7 male sex determination GO:0030238 9.85 NR5A1 NR0B1
8 androgen biosynthetic process GO:0006702 9.85 CYP17A1 HSD17B3 HSD3B2
9 regulation of steroid biosynthetic process GO:0050810 9.84 STAR NR5A1
10 Sertoli cell differentiation GO:0060008 9.83 NR5A1 NR0B1
11 C21-steroid hormone biosynthetic process GO:0006700 9.78 CYP11B1 CYP11A1
12 cortisol metabolic process GO:0034650 9.76 CYP11B1 CYP11A1
13 steroid metabolic process GO:0008202 9.76 CYP11A1 CYP11B1 CYP17A1 CYP21A2 FDX1 FDXR
14 sex determination GO:0007530 9.69 NR5A1 NR0B1
15 C21-steroid hormone metabolic process GO:0008207 9.67 CYP11A1 HSD3B2
16 glucocorticoid biosynthetic process GO:0006704 9.56 CYP21A2 CYP17A1 CYP11B1 CYP11A1
17 steroid biosynthetic process GO:0006694 9.53 STAR HSD3B2 HSD17B3 FDXR FDX1 CYP21A2

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 9.92 CYP21A2 CYP17A1 CYP11B1 CYP11A1
2 iron ion binding GO:0005506 9.85 FDX1 CYP21A2 CYP17A1 CYP11B1 CYP11A1
3 monooxygenase activity GO:0004497 9.56 CYP21A2 CYP17A1 CYP11B1 CYP11A1
4 oxidoreductase activity GO:0016491 9.4 POR NNT HSD3B2 HSD17B3 FDXR CYP21A2
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 CYP21A2 CYP17A1 CYP11B1 CYP11A1
Sources

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

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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