LCAH
MCID: LPD012
MIFTS: 68

Lipoid Congenital Adrenal Hyperplasia (LCAH)

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

Aliases & Classifications for Lipoid Congenital Adrenal Hyperplasia

MalaCards integrated aliases for Lipoid Congenital Adrenal Hyperplasia:

Name: Lipoid Congenital Adrenal Hyperplasia 57 73 20 54 70
Congenital Adrenal Hyperplasia 12 73 20 58 36 29 6 15 70
Congenital Lipoid Adrenal Hyperplasia 12 20 72
Lipoid Adrenal Hyperplasia 57 29 13
Lipoid Cah 12 20 72
Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 20 58
Adrenal Hyperplasia, Congenital 73 44
Adrenal Hyperplasia I 57 6
Adrenal Hyperplasia 1 12 72
Clah 20 58
Cah 20 58
Lipoid Hyperplasia, Congenital, of Adrenal Cortex with Male Pseudohermaphroditism 57
Congenital Lipoid Hyperplasia of Adrenal Cortex with Male Pseudohermaphroditism 72
Hyperplasia, Adrenal, Lipoid, Congenital 39
Congenital Adrenal Hyperplasia, Lipoid 73
Congenital Adrenal Hyperplasia Lipoid 20
Adrenal Hyperplasia Congenital 54
Lcah 57
Ah1 72

Characteristics:

Orphanet epidemiological data:

58
congenital adrenal hyperplasia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe),1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;
congenital lipoid adrenal hyperplasia due to star deficency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
lipoid congenital adrenal hyperplasia:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Lipoid Congenital Adrenal Hyperplasia

GARD : 20 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.

MalaCards based summary : Lipoid Congenital Adrenal Hyperplasia, also known as congenital adrenal hyperplasia, is related to 3-beta-hydroxysteroid dehydrogenase deficiency and classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. An important gene associated with Lipoid Congenital Adrenal Hyperplasia is STAR (Steroidogenic Acute Regulatory Protein), and among its related pathways/superpathways are Steroid hormone biosynthesis and Metabolism. The drugs Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include cortex, adrenal cortex and bone, and related phenotypes are failure to thrive and vomiting

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.

OMIM® : 57 Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996). (201710) (Updated 05-Apr-2021)

KEGG : 36 Congenital adrenal hyperplasia (CAH) is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. All the adrenal hyperplasia syndromes are examples of mixed hypo- and hyperadrenocorticism.

UniProtKB/Swiss-Prot : 72 Adrenal hyperplasia 1: The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted.

Wikipedia : 73 Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by... more...

Related Diseases for Lipoid Congenital Adrenal Hyperplasia

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

(show top 50) (show all 430)
# Related Disease Score Top Affiliating Genes
1 3-beta-hydroxysteroid dehydrogenase deficiency 32.8 HSD3B2 CYP21A2
2 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 32.5 POR POMC LOC110631417 LOC106780800 CYP21A2
3 cytochrome p450 oxidoreductase deficiency 32.4 POR POMC CYP21A2 CYP17A1
4 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 31.4 STAR POR POMC NR0B1 HSD3B2 CYP21A2
5 hyperandrogenism 31.3 POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
6 polycystic ovary syndrome 31.1 STAR HSD3B2 CYP21A2 CYP17A1 CYP11A1
7 amenorrhea 31.1 POR POMC NR5A1 CYP17A1
8 hypokalemia 30.8 REN POMC CYP17A1 CYP11B1
9 hypospadias 30.8 NR5A1 HSD3B2 CYP17A1 CYP11A1
10 pseudohypoaldosteronism 30.7 REN CYP21A2 CYP11B2
11 adenoma 30.5 REN POMC CYP21A2 CYP11B2 CYP11B1
12 inherited metabolic disorder 30.5 REN POMC CYP21A2
13 adrenal rest tumor 30.4 POMC NR5A1 MC2R HSD3B2 CYP21A2 CYP11B2
14 hypoaldosteronism 30.4 REN POMC CYP11B2
15 leydig cell tumor 30.4 STAR NR5A1 NR0B1 CYP21A2 CYP17A1 CYP11A1
16 antley-bixler syndrome 30.4 POR POMC CYP21A2 CYP17A1 CYP11A1
17 waterhouse-friderichsen syndrome 30.2 POMC MC2R CYP21A2
18 apparent mineralocorticoid excess 30.2 REN CYP11B2 CYP11B1
19 acute adrenal insufficiency 30.2 REN POMC CYP21A2 CYP11A1
20 smith-lemli-opitz syndrome 30.1 STAR CYP17A1 CYP11A1
21 androgen insensitivity syndrome 30.0 NR5A1 NR0B1 CYP17A1
22 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 30.0 LOC110631417 LOC106780800 CYP21A2
23 pseudohyperkalemia, familial, 2, due to red cell leak 30.0 REN CYP21A2 CYP11B2
24 body mass index quantitative trait locus 11 30.0 STAR REN POMC NR5A1 MC2R CYP21A2
25 adrenal adenoma 29.9 REN POMC MC2R CYP21A2 CYP17A1 CYP11B2
26 pseudohermaphroditism 29.9 STAR POMC NR5A1 NR0B1 HSD3B2 HSD3B1
27 conn's syndrome 29.8 REN POMC MC2R CYP21A2 CYP17A1 CYP11B2
28 ovarian disease 29.8 STAR REN POMC HSD3B1 CYP17A1 CYP11A1
29 adrenal cortical adenoma 29.8 REN POMC NR5A1 MC2R CYP21A2 CYP17A1
30 adrenal hypoplasia, congenital 29.6 STAR POMC NR5A1 NR0B1 MC2R HSD3B2
31 cryptorchidism, unilateral or bilateral 29.5 STAR POMC NR5A1 NR0B1 HSD3B2 HSD3B1
32 amelogenesis imperfecta 29.5 STAR POMC NR5A1 HSD3B1 CYP17A1 CYP11A1
33 hyperaldosteronism, familial, type i 29.5 REN POMC MC2R LOC106799833 CYP17A1 CYP11B2
34 adrenal cortical carcinoma 29.3 STAR POMC NR5A1 NR0B1 MC2R CYP21A2
35 disorder of sexual development 29.1 STAR POR POMC NR5A1 NR0B1 HSD3B2
36 premature menopause 29.0 STAR POR POMC NR5A1 NR0B1 HSD3B1
37 adrenal cortical hypofunction 29.0 STAR REN POMC NR5A1 NR0B1 MC2R
38 adrenal carcinoma 28.9 STAR REN POMC NR5A1 HSD3B2 HSD3B1
39 hypoadrenocorticism, familial 28.5 STAR REN POMC NR5A1 NR0B1 MC2R
40 46,xy sex reversal 2 28.4 STAR NR5A1 NR0B1 MC2R HSD3B2 HSD3B1
41 familial glucocorticoid deficiency 28.3 STAR REN POR POMC NR5A1 NR0B1
42 46,xy sex reversal 28.2 STAR POR POMC NR5A1 NR0B1 MC2R
43 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 11.9
44 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.9
45 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 11.9
46 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.8
47 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 11.6
48 acth-independent macronodular adrenal hyperplasia 11.5
49 acth-independent macronodular adrenal hyperplasia 1 11.4
50 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 11.3

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



Diseases related to Lipoid Congenital Adrenal Hyperplasia

Symptoms & Phenotypes for Lipoid Congenital Adrenal Hyperplasia

Human phenotypes related to Lipoid Congenital Adrenal Hyperplasia:

58 31 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Occasional (29-5%) HP:0001508
2 vomiting 58 31 hallmark (90%) Frequent (79-30%) HP:0002013
3 hyponatremia 58 31 hallmark (90%) Frequent (79-30%) HP:0002902
4 hyperkalemia 58 31 hallmark (90%) Frequent (79-30%) HP:0002153
5 male pseudohermaphroditism 58 31 hallmark (90%) Occasional (29-5%) HP:0000037
6 female external genitalia in individual with 46,xy karyotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0008730
7 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
8 decreased circulating cortisol level 58 31 hallmark (90%) Frequent (79-30%) HP:0008163
9 hypotension 31 hallmark (90%) HP:0002615
10 hypertension 31 hallmark (90%) HP:0000822
11 delayed skeletal maturation 31 hallmark (90%) HP:0002750
12 short stature 31 hallmark (90%) HP:0004322
13 delayed puberty 31 hallmark (90%) HP:0000823
14 dehydration 31 hallmark (90%) HP:0001944
15 cryptorchidism 31 hallmark (90%) HP:0000028
16 osteoporosis 31 hallmark (90%) HP:0000939
17 hypercholesterolemia 31 hallmark (90%) HP:0003124
18 hypospadias 31 hallmark (90%) HP:0000047
19 abnormality of the menstrual cycle 31 hallmark (90%) HP:0000140
20 gynecomastia 31 hallmark (90%) HP:0000771
21 generalized hyperpigmentation 31 hallmark (90%) HP:0007440
22 decreased testicular size 31 hallmark (90%) HP:0008734
23 neonatal hypoglycemia 31 hallmark (90%) HP:0001998
24 accelerated skeletal maturation 31 hallmark (90%) HP:0005616
25 abnormality of metabolism/homeostasis 31 hallmark (90%) HP:0001939
26 ambiguous genitalia, male 31 hallmark (90%) HP:0000033
27 urogenital sinus anomaly 31 hallmark (90%) HP:0100779
28 feeding difficulties 31 hallmark (90%) HP:0011968
29 decreased fertility in males 31 hallmark (90%) HP:0012041
30 female pseudohermaphroditism 31 hallmark (90%) HP:0010458
31 decreased circulating aldosterone level 31 hallmark (90%) HP:0004319
32 sex reversal 31 hallmark (90%) HP:0012245
33 adrenocortical adenoma 31 hallmark (90%) HP:0008256
34 decreased fertility in females 31 hallmark (90%) HP:0000868
35 elevated circulating follicle stimulating hormone level 31 hallmark (90%) HP:0008232
36 elevated circulating luteinizing hormone level 31 hallmark (90%) HP:0011969
37 absence of secondary sex characteristics 31 hallmark (90%) HP:0008187
38 hypovolemia 31 hallmark (90%) HP:0011106
39 abnormal spermatogenesis 31 hallmark (90%) HP:0008669
40 abnormality of prenatal development or birth 31 hallmark (90%) HP:0001197
41 decreased circulating androgen level 31 hallmark (90%) HP:0030349
42 congenital adrenal hyperplasia 31 hallmark (90%) HP:0008258
43 adrenocorticotropic hormone excess 31 hallmark (90%) HP:0011749
44 renal salt wasting 31 hallmark (90%) HP:0000127
45 adrenogenital syndrome 31 hallmark (90%) HP:0000840
46 hypernatriuria 31 hallmark (90%) HP:0012605
47 ectopic adrenal gland 31 hallmark (90%) HP:0011742
48 increased circulating renin level 31 hallmark (90%) HP:0000848
49 acidosis 31 hallmark (90%) HP:0001941
50 abnormal urine potassium concentration 31 hallmark (90%) HP:0012598

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G U:
hypospadias
phenotypic female

Metabolic:
salt-wasting

Endo:
adrenogenital syndrome
lipoid adrenal hyperplasia

Lab:
20, 22 desmolase deficiency

Clinical features from OMIM®:

201710 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Lipoid Congenital Adrenal Hyperplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 C4A CYP11B1 CYP21A2 HSD3B2 MC2R NR0B1

MGI Mouse Phenotypes related to Lipoid Congenital Adrenal Hyperplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 CYP11A1 CYP11B1 CYP11B2 MC2R MRAP NR0B1
2 homeostasis/metabolism MP:0005376 9.44 BTD CYP11A1 CYP11B1 CYP11B2 CYP17A1 MC2R

Drugs & Therapeutics for Lipoid Congenital Adrenal Hyperplasia

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

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
5
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
6
Cortisone Experimental Phase 4 53-06-5 222786
7 Hormones Phase 4
8 Gastrointestinal Agents Phase 4
9 Antiemetics Phase 4
10 glucocorticoids Phase 4
11 Hormone Antagonists Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Hydrocortisone hemisuccinate Phase 4
15 Hydrocortisone 17-butyrate 21-propionate Phase 4
16
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
17
Racepinephrine Approved Phase 3 329-65-7 838
18
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
19
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
21
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
22
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
23
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
24 BB 1101 Phase 2, Phase 3
25 Epinephryl borate Phase 3
26 Pharmaceutical Solutions Phase 3
27 Methylprednisolone Acetate Phase 3
28 Hydrocortisone-17-butyrate Phase 3
29
Nifedipine Approved Phase 1, Phase 2 21829-25-4 4485
30
Amlodipine Approved Phase 2 88150-42-9 2162
31
Flutamide Approved, Investigational Phase 2 13311-84-7 3397
32
Testolactone Approved, Investigational Phase 2 968-93-4 13769
33
Polyestradiol phosphate Approved Phase 2 28014-46-2
34
Testosterone Approved, Investigational Phase 2 58-22-0 6013
35
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
36
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
37
Fludrocortisone Approved, Investigational Phase 2 127-31-1 31378
38 insulin Phase 2
39 Insulin, Globin Zinc Phase 2
40 Tocolytic Agents Phase 1, Phase 2
41 Vasodilator Agents Phase 2
42 calcium channel blockers Phase 2
43 Calcium, Dietary Phase 2
44 Antihypertensive Agents Phase 2
45 Estradiol 17 beta-cypionate Phase 2
46 Androgen Antagonists Phase 2
47 Estrogens Phase 2
48 Estradiol 3-benzoate Phase 2
49 Estrogen Receptor Antagonists Phase 2
50 Estrogen Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 67)
# 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 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
14 A Pilot Study Assessing the Use of Continuous Subcutaneous Hydrocortisone Infusion in the Treatment of Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
15 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
16 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
17 A Phase 2, Multicenter Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
18 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
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 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
31 An Open-Label, Multiple-Dose, Dose-Finding Study of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
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 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
36 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
37 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
38 Multicentric Evaluation of in Utero Dexamethasone (DEX) on the Cognitive Development of Children at Risk of Congenital Adrenal Hyperplasia Unknown status NCT02795871
39 Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency Unknown status NCT00694525
40 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
41 Prevalence of Mutations of Glucocorticoid Receptors in Bilateral Adrenal Hyperplasia Unknown status NCT02810496
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 A Novel Therapeutic Modality for Congenital Adrenal Hyperplasia Completed NCT00529841 Hydrocortisone sodium acetate
44 Catecholamine Reserve and Exercise Tolerance in Subjects With Congenital Adrenal Hyperplasia and Healthy Controls Completed NCT00011791
45 Evaluation of Cardiovascular Risk Profile in Adult Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency Diagnosed During Childhood Completed NCT01807364
46 Effects of Pioglitazone in Glucocorticoid-Induced Insulin Resistance. Studies in Congenital Adrenal Hyperplasia. Completed NCT00151710 Pioglitazone
47 An Adult Height Prediction Model for Congenital Adrenal Hyperplasia From a National Cohort (OPALE Model Study) Completed NCT03162159
48 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
49 Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
50 "Gender Development in Early Adolescence: Prenatal Hormones and Family Socialization" Completed NCT01184651

Search NIH Clinical Center for Lipoid Congenital Adrenal Hyperplasia

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: adrenal hyperplasia, congenital

Genetic Tests for Lipoid Congenital Adrenal Hyperplasia

Genetic tests related to Lipoid Congenital Adrenal Hyperplasia:

# Genetic test Affiliating Genes
1 Congenital Adrenal Hyperplasia 29
2 Lipoid Adrenal Hyperplasia 29

Anatomical Context for Lipoid Congenital Adrenal Hyperplasia

MalaCards organs/tissues related to Lipoid Congenital Adrenal Hyperplasia:

40
Cortex, Adrenal Cortex, Bone, Ovary, Pituitary, Adrenal Gland, Brain

Publications for Lipoid Congenital Adrenal Hyperplasia

Articles related to Lipoid Congenital Adrenal Hyperplasia:

(show top 50) (show all 4977)
# Title Authors PMID Year
1
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. 6 57 61 54
16968793 2006
2
Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. 54 57 6
11061515 2000
3
Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. 57 6
9077535 1997
4
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. 57 6
8948562 1996
5
T-->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. 57 6
8634702 1995
6
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. 6 57
7892608 1995
7
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. 54 6 61
20089618 2010
8
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. 6 54 61
19773404 2009
9
21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia. 61 6 54
19449670 2009
10
Phenotypic features associated with mutations in steroidogenic acute regulatory protein. 6 54 61
16118340 2005
11
Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia. 6 61 54
11509019 2001
12
Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. 57 54 61
1661294 1991
13
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency. 6 61
32616876 2020
14
Comprehensive genotyping of Turkish women with hirsutism. 6 61
30811025 2019
15
Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 61 6
30995443 2019
16
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia. 61 6
28467518 2017
17
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. 61 6
26650942 2016
18
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient. 61 6
27047663 2016
19
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 61 6
26523528 2016
20
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases. 6 61
23859637 2014
21
p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia. 61 6
24904850 2013
22
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 61 6
23359698 2013
23
The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development. 61 6
23920000 2013
24
Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. 61 6
21647419 2011
25
The mechanism of specific binding of free cholesterol by the steroidogenic acute regulatory protein: evidence for a role of the C-terminal alpha-helix in the gating of the binding site. 6 61
18729825 2009
26
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency. 6 61
18319307 2008
27
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. 54 6
17666473 2007
28
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. 61 6
15985476 2005
29
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein. 6 54
14764819 2004
30
Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia. 54 6
10323391 1999
31
The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction. 6 61
9518489 1998
32
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. 61 6
9385370 1997
33
Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein. 61 6
9141542 1997
34
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. 54 6
9097960 1997
35
Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. 61 57
3841304 1985
36
Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone. 61 57
4295130 1968
37
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency. 6
30968594 2019
38
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia. 6
26827627 2016
39
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
40
Phenotypic variability in congenital lipoid adrenal hyperplasia. 6
24953586 2014
41
Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene. 6
22083155 2012
42
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. 6
21846663 2011
43
Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR). 6
20444910 2010
44
A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia. 6
24790358 2008
45
Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. 6
17666484 2007
46
Cholesterol binding does not predict activity of the steroidogenic acute regulatory protein, StAR. 6
17301050 2007
47
A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. 6
15546900 2005
48
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation. 6
15670187 2005
49
[Molecular genetic analysis of congenital lipoid adrenal hyperplasia]. 6
15347444 2004
50
Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia. 6
10700722 2000

Variations for Lipoid Congenital Adrenal Hyperplasia

ClinVar genetic disease variations for Lipoid Congenital Adrenal Hyperplasia:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAR NM_000349.3(STAR):c.545G>T (p.Arg182Leu) SNV Pathogenic 8988 rs104894086 GRCh37: 8:38003586-38003586
GRCh38: 8:38146068-38146068
2 STAR STAR, 1-BP DEL, 261T Deletion Pathogenic 8989 GRCh37:
GRCh38:
3 STAR NM_000349.3(STAR):c.178+2dup Duplication Pathogenic 8990 rs1563268785 GRCh37: 8:38006156-38006157
GRCh38: 8:38148638-38148639
4 STAR NM_000349.3(STAR):c.749G>A (p.Trp250Ter) SNV Pathogenic 8991 rs104894087 GRCh37: 8:38001900-38001900
GRCh38: 8:38144382-38144382
5 STAR NM_000349.3(STAR):c.650G>C (p.Arg217Thr) SNV Pathogenic 8992 rs137852689 GRCh37: 8:38003481-38003481
GRCh38: 8:38145963-38145963
6 STAR NM_000349.3(STAR):c.653C>T (p.Ala218Val) SNV Pathogenic 8993 rs137852690 GRCh37: 8:38002831-38002831
GRCh38: 8:38145313-38145313
7 STAR NM_000349.3(STAR):c.577C>T (p.Arg193Ter) SNV Pathogenic 35553 rs387907235 GRCh37: 8:38003554-38003554
GRCh38: 8:38146036-38146036
8 STAR NM_000349.3(STAR):c.772C>T (p.Gln258Ter) SNV Pathogenic 8987 rs104894085 GRCh37: 8:38001877-38001877
GRCh38: 8:38144359-38144359
9 STAR NM_000349.3(STAR):c.125dup (p.Thr44fs) Duplication Pathogenic 632520 rs750549499 GRCh37: 8:38006211-38006212
GRCh38: 8:38148693-38148694
10 STAR NM_000349.3(STAR):c.562C>T (p.Arg188Cys) SNV Pathogenic 8997 rs104894090 GRCh37: 8:38003569-38003569
GRCh38: 8:38146051-38146051
11 STAR NM_000349.3(STAR):c.64+1G>T SNV Pathogenic 550998 rs765968701 GRCh37: 8:38008272-38008272
GRCh38: 8:38150754-38150754
12 STAR NM_000349.3(STAR):c.197_198CT[2] (p.Tyr68fs) Microsatellite Pathogenic 586680 rs1563268652 GRCh37: 8:38005822-38005823
GRCh38: 8:38148304-38148305
13 STAR NM_000349.3(STAR):c.545G>A (p.Arg182His) SNV Likely pathogenic 8995 rs104894086 GRCh37: 8:38003586-38003586
GRCh38: 8:38146068-38146068
14 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.799+2T>C SNV Likely pathogenic 35990 rs193922541 GRCh37: 8:143958096-143958096
GRCh38: 8:142876680-142876680
15 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) SNV Likely pathogenic 35989 rs193922540 GRCh37: 8:143958621-143958621
GRCh38: 8:142877205-142877205
16 CYP11B1 NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile) SNV Likely pathogenic 35988 rs193922539 GRCh37: 8:143960579-143960579
GRCh38: 8:142879163-142879163
17 CYP21A2 , LOC110631417 , LOC106780800 NM_000500.7:c.-113G>A SNV Likely pathogenic 987867 GRCh37: 6:32006087-32006087
GRCh38: 6:32038310-32038310
18 CYP11B1 NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) SNV Likely pathogenic 35986 rs193922538 GRCh37: 8:143961105-143961105
GRCh38: 8:142879689-142879689
19 STAR NM_000349.3(STAR):c.135del (p.Ser46fs) Deletion Likely pathogenic 36782 rs193922393 GRCh37: 8:38006202-38006202
GRCh38: 8:38148684-38148684
20 LOC106799833 , CYP11B1 NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) SNV Likely pathogenic 35982 rs61752786 GRCh37: 8:143957129-143957129
GRCh38: 8:142875713-142875713
21 STAR NM_000349.3(STAR):c.629_630del (p.Pro210fs) Deletion Likely pathogenic 370502 rs771895449 GRCh37: 8:38003501-38003502
GRCh38: 8:38145983-38145984
22 STAR NM_000349.3(STAR):c.544C>T (p.Arg182Cys) SNV Likely pathogenic 550550 rs369232492 GRCh37: 8:38003587-38003587
GRCh38: 8:38146069-38146069
23 STAR NM_000349.3(STAR):c.695del (p.Gly232fs) Deletion Likely pathogenic 558205 rs757367795 GRCh37: 8:38002789-38002789
GRCh38: 8:38145271-38145271
24 STAR NM_000349.3(STAR):c.801dup (p.Ala268fs) Duplication Likely pathogenic 551209 rs1554502663 GRCh37: 8:38001847-38001848
GRCh38: 8:38144329-38144330
25 STAR NM_000349.3(STAR):c.296_297AG[1] (p.Gln101fs) Microsatellite Likely pathogenic 551640 rs765904696 GRCh37: 8:38005725-38005726
GRCh38: 8:38148207-38148208
26 STAR NM_000349.3(STAR):c.661G>A (p.Gly221Ser) SNV Likely pathogenic 661662 rs139081695 GRCh37: 8:38002823-38002823
GRCh38: 8:38145305-38145305
27 STAR NM_000349.3(STAR):c.559G>A (p.Val187Met) SNV Likely pathogenic 8996 rs104894089 GRCh37: 8:38003572-38003572
GRCh38: 8:38146054-38146054
28 STAR NM_000349.3(STAR):c.505G>A (p.Glu169Lys) SNV Likely pathogenic 448533 rs747169620 GRCh37: 8:38003626-38003626
GRCh38: 8:38146108-38146108
29 STAR NM_000349.3(STAR):c.779T>C (p.Leu260Pro) SNV Likely pathogenic 553482 rs551783234 GRCh37: 8:38001870-38001870
GRCh38: 8:38144352-38144352
30 STAR NM_000349.3(STAR):c.229C>T (p.Gln77Ter) SNV Likely pathogenic 553713 rs781281145 GRCh37: 8:38005795-38005795
GRCh38: 8:38148277-38148277
31 STAR NM_000349.3(STAR):c.716_732del (p.Leu239fs) Deletion Likely pathogenic 554730 rs1554502725 GRCh37: 8:38002752-38002768
GRCh38: 8:38145234-38145250
32 STAR NM_000349.3(STAR):c.677del (p.Val226fs) Deletion Likely pathogenic 554752 rs1554502732 GRCh37: 8:38002807-38002807
GRCh38: 8:38145289-38145289
33 STAR NM_000349.3(STAR):c.179-2A>G SNV Likely pathogenic 555439 rs1554502986 GRCh37: 8:38005847-38005847
GRCh38: 8:38148329-38148329
34 STAR NM_000349.3(STAR):c.811del (p.Leu271fs) Deletion Likely pathogenic 556387 rs1350908961 GRCh37: 8:38001838-38001838
GRCh38: 8:38144320-38144320
35 STAR NM_000349.3(STAR):c.178+1G>C SNV Likely pathogenic 557688 rs1554503011 GRCh37: 8:38006158-38006158
GRCh38: 8:38148640-38148640
36 STAR NM_000349.3(STAR):c.64+2T>C SNV Likely pathogenic 557853 rs1298369560 GRCh37: 8:38008271-38008271
GRCh38: 8:38150753-38150753
37 STAR NM_000349.3(STAR):c.714del (p.Lys238fs) Deletion Likely pathogenic 558171 rs1417088430 GRCh37: 8:38002770-38002770
GRCh38: 8:38145252-38145252
38 STAR NM_000349.3(STAR):c.651-1G>C SNV Likely pathogenic 558210 rs749626865 GRCh37: 8:38002834-38002834
GRCh38: 8:38145316-38145316
39 STAR NM_000349.3(STAR):c.745-1_757del Deletion Likely pathogenic 558587 rs1554502668 GRCh37: 8:38001892-38001905
GRCh38: 8:38144374-38144387
40 STAR NM_000349.3(STAR):c.289_291AAG[1] (p.Lys98del) Microsatellite Uncertain significance 550533 rs146872295 GRCh37: 8:38005730-38005732
GRCh38: 8:38148212-38148214
41 STAR NM_000349.3(STAR):c.*818G>A SNV Uncertain significance 362835 rs558498679 GRCh37: 8:38000973-38000973
GRCh38: 8:38143455-38143455
42 STAR NM_000349.3(STAR):c.*556A>G SNV Uncertain significance 362838 rs886062903 GRCh37: 8:38001235-38001235
GRCh38: 8:38143717-38143717
43 STAR NM_000349.3(STAR):c.*116T>G SNV Uncertain significance 362841 rs35462433 GRCh37: 8:38001675-38001675
GRCh38: 8:38144157-38144157
44 STAR NM_000349.3(STAR):c.*817C>T SNV Uncertain significance 362836 rs886062901 GRCh37: 8:38000974-38000974
GRCh38: 8:38143456-38143456
45 STAR NM_000349.3(STAR):c.*981A>G SNV Uncertain significance 362830 rs188232971 GRCh37: 8:38000810-38000810
GRCh38: 8:38143292-38143292
46 STAR NM_000349.3(STAR):c.*348C>T SNV Uncertain significance 362839 rs886062904 GRCh37: 8:38001443-38001443
GRCh38: 8:38143925-38143925
47 STAR NM_000349.3(STAR):c.*93C>T SNV Uncertain significance 362842 rs776003335 GRCh37: 8:38001698-38001698
GRCh38: 8:38144180-38144180
48 STAR NM_000349.3(STAR):c.178+9T>C SNV Uncertain significance 362848 rs777624416 GRCh37: 8:38006150-38006150
GRCh38: 8:38148632-38148632
49 STAR NM_000349.3(STAR):c.-70G>T SNV Uncertain significance 362851 rs370257148 GRCh37: 8:38008406-38008406
GRCh38: 8:38150888-38150888
50 STAR NM_000349.3(STAR):c.*1543C>A SNV Uncertain significance 362825 rs748527738 GRCh37: 8:38000248-38000248
GRCh38: 8:38142730-38142730

UniProtKB/Swiss-Prot genetic disease variations for Lipoid Congenital Adrenal Hyperplasia:

72
# Symbol AA change Variation ID SNP ID
1 STAR p.Arg182Leu VAR_005627 rs104894086
2 STAR p.Glu169Gly VAR_014236 rs125455998
3 STAR p.Glu169Lys VAR_014237 rs747169620
4 STAR p.Arg217Thr VAR_014238 rs137852689
5 STAR p.Ala218Val VAR_014239 rs137852690
6 STAR p.Met225Thr VAR_014240 rs144636221
7 STAR p.Leu275Pro VAR_014242 rs762245736

Copy number variations for Lipoid Congenital Adrenal Hyperplasia from CNVD:

7
# CNVD ID Chromosome 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 Lipoid Congenital Adrenal Hyperplasia

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

Pathways for Lipoid Congenital Adrenal Hyperplasia

Pathways related to Lipoid Congenital Adrenal Hyperplasia according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 STAR POR POMC HSD3B2 HSD3B1 CYP21A2
2
Show member pathways
12.99 POR POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
3
Show member pathways
12.21 STAR POMC NR5A1 NR0B1 MRAP MC2R
4 11.77 STAR POMC HSD3B2 HSD3B1 CYP21A2 CYP11B1
5
Show member pathways
11.6 POMC MC2R CYP11A1
6
Show member pathways
11.53 HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2 CYP11B1
7
Show member pathways
11.51 STAR POMC HSD3B2 HSD3B1 CYP21A2 CYP17A1
8
Show member pathways
11.44 HSD3B2 HSD3B1 CYP17A1 CYP11B1
9 11.43 STAR HSD3B2 HSD3B1 CYP17A1 CYP11A1
10
Show member pathways
10.99 CYP21A2 CYP17A1 CYP11B2 CYP11B1

GO Terms for Lipoid Congenital Adrenal Hyperplasia

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.91 STAR POR HSD3B2 HSD3B1 CYP11B2 CYP11B1
2 endoplasmic reticulum membrane GO:0005789 9.8 POR MRAP HSD3B2 HSD3B1 CYP21A2 CYP17A1
3 mitochondrial inner membrane GO:0005743 9.55 HSD3B2 HSD3B1 CYP11B2 CYP11B1 CYP11A1
4 mitochondrial intermembrane space GO:0005758 9.43 STAR HSD3B2 HSD3B1
5 intracellular membrane-bounded organelle GO:0043231 9.17 POR NR0B1 MRAP HSD3B2 HSD3B1 CYP21A2
6 smooth endoplasmic reticulum membrane GO:0030868 8.96 HSD3B2 HSD3B1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.06 POR HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2
2 steroid metabolic process GO:0008202 9.88 HSD3B1 CYP21A2 CYP17A1 CYP11B2 CYP11A1
3 male gonad development GO:0008584 9.84 STAR REN NR5A1 NR0B1
4 cholesterol metabolic process GO:0008203 9.83 STAR CYP11B2 CYP11B1 CYP11A1
5 regulation of blood pressure GO:0008217 9.76 REN POMC CYP11B1
6 sterol metabolic process GO:0016125 9.71 CYP21A2 CYP11B2 CYP11B1 CYP11A1
7 response to corticosterone GO:0051412 9.69 STAR HSD3B2 HSD3B1
8 androgen biosynthetic process GO:0006702 9.67 HSD3B2 HSD3B1 CYP17A1
9 cellular response to peptide hormone stimulus GO:0071375 9.67 POR CYP11B2 CYP11B1 CYP11A1
10 adrenal gland development GO:0030325 9.62 NR5A1 NR0B1
11 estrogen biosynthetic process GO:0006703 9.62 STAR HSD3B1
12 cellular response to potassium ion GO:0035865 9.61 CYP11B2 CYP11B1
13 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.61 STAR POR
14 C21-steroid hormone metabolic process GO:0008207 9.61 HSD3B2 HSD3B1 CYP11A1
15 regulation of steroid biosynthetic process GO:0050810 9.6 STAR NR5A1
16 male sex determination GO:0030238 9.59 NR5A1 NR0B1
17 cellular response to gonadotropin stimulus GO:0071371 9.58 STAR POR
18 sex determination GO:0007530 9.57 NR5A1 NR0B1
19 cortisol biosynthetic process GO:0034651 9.56 CYP11B2 CYP11B1
20 C21-steroid hormone biosynthetic process GO:0006700 9.56 STAR CYP11B2 CYP11B1 CYP11A1
21 steroid biosynthetic process GO:0006694 9.56 STAR HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2
22 aldosterone biosynthetic process GO:0032342 9.55 CYP11B2 CYP11B1
23 cortisol metabolic process GO:0034650 9.5 CYP11B2 CYP11B1 CYP11A1
24 mineralocorticoid biosynthetic process GO:0006705 9.46 HSD3B2 HSD3B1 CYP21A2 CYP11B2
25 glucocorticoid biosynthetic process GO:0006704 9.17 HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2 CYP11B1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.76 POR HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2
2 heme binding GO:0020037 9.72 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
3 iron ion binding GO:0005506 9.65 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
4 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.52 HSD3B2 HSD3B1
5 type 1 melanocortin receptor binding GO:0070996 9.51 POMC MRAP
6 type 4 melanocortin receptor binding GO:0031782 9.49 POMC MRAP
7 type 3 melanocortin receptor binding GO:0031781 9.48 POMC MRAP
8 steroid delta-isomerase activity GO:0004769 9.46 HSD3B2 HSD3B1
9 cholesterol dehydrogenase activity GO:0102294 9.43 HSD3B2 HSD3B1
10 corticosterone 18-monooxygenase activity GO:0047783 9.4 CYP11B2 CYP11B1
11 steroid 11-beta-monooxygenase activity GO:0004507 9.37 CYP11B2 CYP11B1
12 monooxygenase activity GO:0004497 9.35 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
13 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.02 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1

Sources for Lipoid Congenital Adrenal Hyperplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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