MCID: LPD012
MIFTS: 69

Lipoid Congenital Adrenal Hyperplasia

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

Aliases & Classifications for Lipoid Congenital Adrenal Hyperplasia

MalaCards integrated aliases for Lipoid Congenital Adrenal Hyperplasia:

Name: Lipoid Congenital Adrenal Hyperplasia 57 76 53 55 73
Congenital Adrenal Hyperplasia 12 76 53 37 29 6 15 73
Congenital Lipoid Adrenal Hyperplasia 12 53 75
Lipoid Adrenal Hyperplasia 57 29 13
Lipoid Cah 12 53 75
Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 53 59
Adrenal Hyperplasia, Congenital 76 44
Adrenal Hyperplasia 1 12 75
Clah 53 59
Lipoid Hyperplasia, Congenital, of Adrenal Cortex with Male Pseudohermaphroditism 57
Congenital Lipoid Hyperplasia of Adrenal Cortex with Male Pseudohermaphroditism 75
Hyperplasia, Adrenal, Lipoid, Congenital 40
Congenital Adrenal Hyperplasia, Lipoid 76
Congenital Adrenal Hyperplasia Lipoid 53
Adrenal Hyperplasia Congenital 55
Adrenal Hyperplasia I 57
Lcah 57
Cah 53
Ah1 75

Characteristics:

Orphanet epidemiological data:

59
congenital lipoid adrenal hyperplasia due to star deficency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lipoid congenital adrenal hyperplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lipoid Congenital Adrenal Hyperplasia

NIH Rare Diseases : 53 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 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 3-beta-hydroxysteroid dehydrogenase 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 Cyproterone Acetate and Drospirenone have been mentioned in the context of this disorder. Affiliated tissues include ovary, adrenal gland and adrenal cortex, and related phenotypes are cryptorchidism and ambiguous genitalia, male

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from... 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 77)
# Related Disease Score Top Affiliating Genes
1 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 34.6 CYP21A2 POMC
2 3-beta-hydroxysteroid dehydrogenase deficiency 33.9 CYP21A2 HSD3B2
3 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 31.1 C4A CYP11A1 CYP17A1 CYP21A2 POMC STAR
4 familial glucocorticoid deficiency 29.6 MC2R POMC REN STAR
5 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.5
6 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 12.3
7 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 12.3
8 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 12.2
9 classic congenital lipoid adrenal hyperplasia due to star deficency 12.2
10 non-classic congenital lipoid adrenal hyperplasia due to star deficency 12.2
11 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 12.1
12 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 12.1
13 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 12.1
14 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 12.0
15 acth-independent macronodular adrenal hyperplasia 11.7
16 aromatase deficiency 11.5
17 glucocorticoid deficiency 1 10.6 MC2R POMC
18 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.5 CYP11A1 CYP17A1 CYP21A2
19 familial hyperaldosteronism 10.4 CYP11B1 CYP11B2
20 adrenal hypoplasia, congenital 10.4 NR5A1 STAR
21 achalasia-addisonianism-alacrima syndrome 10.3 MC2R POMC
22 luteoma 10.2 CYP19A1 CYP21A2 STAR
23 alopecia, androgenetic, 1 10.2 CYP19A1 CYP21A2
24 mammographic density 10.2 CYP17A1 CYP19A1
25 aromatase excess syndrome 10.2 CYP19A1 POMC
26 transsexualism 10.2 CYP17A1 CYP19A1 CYP21A2
27 cytochrome p450 oxidoreductase deficiency 10.1 CYP17A1 CYP21A2 POMC POR
28 inappropriate adh syndrome 10.1 POMC REN
29 ovarian cyst 10.0
30 cholesterol ester storage disease 10.0 CYP11A1 STAR
31 ovarian disease 10.0 CYP11A1 CYP19A1 NR5A1
32 mycetoma 10.0 CYP17A1 CYP19A1 HSD3B1
33 anorchia 10.0 NR5A1 SRY
34 cholestasis 10.0
35 46,xy partial gonadal dysgenesis 9.9 NR5A1 SRY
36 hypoadrenocorticism, familial 9.9 CYP11A1 CYP21A2 MC2R POMC STAR
37 aldosterone-producing adenoma 9.9 CYP11B2 CYP21A2 REN
38 hepatitis c virus 9.9
39 hepatitis 9.9
40 hepatitis c 9.9
41 hypertensive encephalopathy 9.9 CYP19A1 REN
42 premature ovarian failure 1 9.9 CYP11A1 CYP19A1 NR5A1 STAR
43 pseudohyperkalemia, familial, 2, due to red cell leak 9.9 CYP11B2 CYP21A2 REN
44 antley-bixler syndrome 9.9 CYP17A1 CYP19A1 CYP21A2 POR
45 46,xx sex reversal 1 9.9 NR5A1 SRY
46 hypoaldosteronism 9.8 CYP11B2 POMC REN
47 cell type benign neoplasm 9.8 CYP11B2 POMC REN
48 female reproductive system disease 9.8 CYP17A1 CYP19A1 NR5A1 POMC
49 acute adrenal insufficiency 9.7 CYP11A1 CYP21A2 POMC REN
50 gonadal disease 9.6 NR5A1 POMC SRY

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

Symptoms via clinical synopsis from OMIM:

57
GU:
hypospadias
phenotypic female

Metabolic:
salt-wasting

Endo:
adrenogenital syndrome
lipoid adrenal hyperplasia

Lab:
20, 22 desmolase deficiency


Clinical features from OMIM:

201710

Human phenotypes related to Lipoid Congenital Adrenal Hyperplasia:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 ambiguous genitalia, male 59 32 hallmark (90%) Very frequent (99-80%) HP:0000033
3 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
4 abnormality of the menstrual cycle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000140
5 renal salt wasting 59 32 hallmark (90%) Very frequent (99-80%) HP:0000127
6 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
7 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
8 adrenogenital syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000840
9 increased circulating renin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0000848
10 decreased fertility in females 59 32 hallmark (90%) Very frequent (99-80%) HP:0000868
11 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
12 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
13 abnormality of prenatal development or birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001197
14 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
15 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
16 acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001941
17 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
18 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
19 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
20 hyperkalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002153
21 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
22 hyponatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002902
23 decreased circulating aldosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0004319
24 hypercholesterolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003124
25 increased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003154
26 hypernatriuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0012605
27 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
28 decreased circulating cortisol level 59 32 hallmark (90%) Very frequent (99-80%) HP:0008163
29 absence of secondary sex characteristics 59 32 hallmark (90%) Very frequent (99-80%) HP:0008187
30 adrenocortical adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0008256
31 congenital adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008258
32 abnormal spermatogenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008669
33 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
34 female external genitalia in individual with 46,xy karyotype 59 32 hallmark (90%) Very frequent (99-80%) HP:0008730
35 hypovolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011106
36 ectopic adrenal gland 59 32 hallmark (90%) Very frequent (99-80%) HP:0011742
37 adrenocorticotropic hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0011749
38 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
39 decreased fertility in males 59 32 hallmark (90%) Very frequent (99-80%) HP:0012041
40 sex reversal 59 32 hallmark (90%) Very frequent (99-80%) HP:0012245
41 decreased circulating androgen level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030349
42 abnormal urine potassium concentration 59 32 hallmark (90%) Very frequent (99-80%) HP:0012598
43 urogenital sinus anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100779
44 abnormality of the vagina 59 Very frequent (99-80%)
45 decreased fertility 59 Very frequent (99-80%)
46 primary adrenal insufficiency 59 Very frequent (99-80%)
47 abnormality of cholesterol metabolism 59 Very frequent (99-80%)
48 reduced bone mineral density 59 Very frequent (99-80%)
49 elevated follicle stimulating hormone 59 Very frequent (99-80%)
50 elevated luteinizing hormone 59 Very frequent (99-80%)

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 POMC

MGI Mouse Phenotypes related to Lipoid Congenital Adrenal Hyperplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 CYP19A1 MC2R NR5A1 POMC POR REN
2 growth/size/body region MP:0005378 10.03 POMC POR REN STAR BTD CYP11A1
3 cardiovascular system MP:0005385 10.02 CYP11A1 CYP11B1 CYP11B2 CYP19A1 MC2R NR5A1
4 endocrine/exocrine gland MP:0005379 9.97 CYP11A1 CYP11B1 CYP11B2 CYP19A1 MC2R NR5A1
5 homeostasis/metabolism MP:0005376 9.93 BTD CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1
6 renal/urinary system MP:0005367 9.56 BTD CYP11B1 CYP11B2 CYP17A1 CYP19A1 POMC
7 reproductive system MP:0005389 9.23 CYP11A1 CYP11B2 CYP17A1 CYP19A1 NR5A1 POR

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 183)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyproterone Acetate Approved, Investigational Phase 4,Not Applicable 427-51-0
2
Drospirenone Approved Phase 4 67392-87-4 68873
3
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 50-28-2 5757
4 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 979-32-8
5
Ethinyl Estradiol Approved Phase 4,Phase 2,Not Applicable 57-63-6 5991
6
Polyestradiol phosphate Approved Phase 4,Phase 2,Not Applicable 28014-46-2
7
Metformin Approved Phase 4,Phase 3,Phase 2,Not Applicable 657-24-9 14219 4091
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 59-30-3 6037
9
leucovorin Approved, Nutraceutical Phase 4,Not Applicable 58-05-9 143 6006
10 Androgen Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
11 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Antioxidants Phase 4,Not Applicable
13 Contraceptive Agents Phase 4,Phase 2,Not Applicable
14 Contraceptive Agents, Male Phase 4,Not Applicable
15 Contraceptives, Oral Phase 4,Phase 2,Not Applicable
16 Contraceptives, Oral, Combined Phase 4,Phase 2,Not Applicable
17
Cyproterone Phase 4,Not Applicable 2098-66-0 5284537
18 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
19 diuretics Phase 4,Early Phase 1,Not Applicable
20 Diuretics, Potassium Sparing Phase 4,Early Phase 1,Not Applicable
21 Drospirenone and ethinyl estradiol combination Phase 4
22 Estradiol 17 beta-cypionate Phase 4,Phase 2,Not Applicable
23 Estradiol 3-benzoate Phase 4,Phase 2,Not Applicable
24 Estrogens Phase 4,Phase 3,Phase 2,Not Applicable
25 Hemostatics Phase 4
26 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
27 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
29 Mineralocorticoid Receptor Antagonists Phase 4,Phase 3,Early Phase 1,Not Applicable
30 Mineralocorticoids Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
31 Natriuretic Agents Phase 4,Early Phase 1,Not Applicable
32 Protective Agents Phase 4,Not Applicable
33 Calcium, Dietary Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
34 Hematinics Phase 4,Not Applicable
35 Micronutrients Phase 4,Not Applicable
36 Trace Elements Phase 4,Not Applicable
37 Vitamin B Complex Phase 4,Not Applicable
38 Vitamins Phase 4,Not Applicable
39 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
40 Follicle Stimulating Hormone Phase 4
41 Folate Nutraceutical Phase 4,Not Applicable
42 Vitamin B9 Nutraceutical Phase 4,Not Applicable
43
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 50-02-2 5743
44
Epinephrine Approved, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-43-4 5816
45
Hydrocortisone Approved, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-23-7 5754
46
Prednisone Approved, Vet_approved Phase 2, Phase 3,Phase 3 53-03-2 5865
47
Racepinephrine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 329-65-7 838
48
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
49
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
50
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 101)
# Name Status NCT ID Phase Drugs
1 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4 20 mcg ethinylestradiol /3 mg drospirenone;20 mcg ethinylestradiol/3 mg drospirenone and Selmevit;30 mcg ethinylestradiol/3 mg drospirenone;30 mcg ethinylestradiol/3 mg drospirenone and Selmevit;35 mcg ethinylestradiol/2 mg cyproterone;35 mcg ethinylestradiol/2 mg cyproterone and Selmevit
2 Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation Unknown status NCT01103518 Phase 4 Ethinyl Estradiol + Cyproterone acetate
3 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4 3 mg DRSP/20 μg EE
4 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4 Metformin;Ethynyl-estradiol plus cyproterone acetate
5 Ovarian Response to Recombinant Follicle Stimulating Hormone in Women With PCOS Recruiting NCT03252223 Phase 4 Recombinant Follicle Stimulating Hormone
6 COrticosteroid in Congenital Adrenal Hyperplasia Unknown status NCT02552251 Phase 2, Phase 3
7 SPARTACUS: Subtyping Primary Aldosteronism: a Randomized Trial Comparing Adrenal Vein Sampling and Computed Tomography Scan. Completed NCT01096654 Phase 3
8 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3 doxycycline
9 The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or Anovulatory Women Completed NCT00413179 Phase 3 Metformin;Clomiphene citrate;Placebo
10 Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia Recruiting NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
11 A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH Recruiting NCT03062280 Phase 3 Hydrocortisone
12 Adrenal Artery Ablation Treats Primary Aldosteronism Recruiting NCT03398785 Phase 3
13 Extension Study for Patients Entered Into Study Infacort 003 Active, not recruiting NCT02733367 Phase 3 Infacort®
14 Open-label Comparison of Chronocort® Versus Standard Glucocorticoid Replacement Therapy Not yet recruiting NCT03532022 Phase 3 Chronocort®;Standard Care
15 A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
16 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
17 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
18 Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH Completed NCT01735617 Phase 2 Hydrocortisone Modified Release Capsules
19 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
20 Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
21 Treatment of Hyperandrogenism Versus Insulin Resistance in Infertile Polycystic Ovary Syndrome (PCOS) Women Completed NCT00704912 Phase 2 Orlistat/Meal Replacement/Lifestyle Modification;Loestrin 1/20;Combination of treatments
22 Phase II Randomized Study of Leuprolide Vs Oral Contraceptive Therapy Vs Leuprolide and Oral Contraceptive Therapy for Ovarian Hyperandrogenism Completed NCT00004763 Phase 2 leuprolide;Ethinyl estradiol/norethindrone
23 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Recruiting NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
24 Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia Recruiting NCT03257462 Phase 2 SPR001
25 Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adults With Congenital Adrenal Hyperplasia Recruiting NCT03525886 Phase 2 NBI-74788
26 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Recruiting NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
27 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting NCT02468193 Phase 2 Osilodrostat
28 Acupuncture or Metformin for Insulin Resistance in Women With PCOS Recruiting NCT02647827 Phase 2 Metformin
29 Androgen Excess as a Mechanism for Adipogenic Dysfunction in PCOS Women Recruiting NCT01889199 Phase 2 Flutamide
30 Metformine and CC Compared With Placebo and CC for Induction Ovulation in PCOS Patients With Insulin Resistant Enrolling by invitation NCT02523898 Phase 2 metformine;placebo;clomiphene citrate
31 Androgen Reduction in Congenital Adrenal Hyperplasia Not yet recruiting NCT03548246 Phase 2 Abiraterone acetate;Placebo;Hydrocortisone;Fludrocortisone
32 A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
33 Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia Completed NCT00001521 Phase 1 Flutamide and Testolactone;Deslorelin
34 An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone Completed NCT03019614 Phase 1 Hydrocortisone;Chronocort
35 A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations Completed NCT03051893 Phase 1 Chronocort
36 Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1 Recruiting NCT02574910 Phase 1 Abiraterone acetate
37 Suppression of Daytime and Nighttime Luteinizing Hormone Frequency by Progesterone Recruiting NCT01428089 Phase 1 Progesterone;Placebo
38 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
39 Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia Unknown status NCT00694525
40 Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers Unknown status NCT00617292
41 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Unknown status NCT02810496 Not Applicable
42 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
43 Ultrasound Three-dimensional Characterization of Ovarian Morphology in Women With Polycystic Ovary Syndrome (PCOS) Unknown status NCT02402413 Not Applicable
44 Meal Timing on Glucose and Hyperandrogenism in PCOS Women Unknown status NCT01711476 Not Applicable
45 Meal Timing on Glucose Metabolism and Hyperandrogenism in Lean Women With Polycystic Ovary Syndrome Unknown status NCT01569425 Not Applicable
46 Whole Genome Analysis for the Detection of Key Genes in the Polycystic Ovary Syndrome Unknown status NCT00665171
47 Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia Completed NCT01807364
48 Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
49 Growth Hormone (GH) in Congenital Adrenal Hyperplasia Completed NCT03162172
50 Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia Completed NCT00529841 Not Applicable Hydrocortisone sodium acetate

Search NIH Clinical Center for Lipoid Congenital Adrenal Hyperplasia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Ovary, Adrenal Gland, Adrenal Cortex, Cortex, Bone, Kidney, Pituitary

Publications for Lipoid Congenital Adrenal Hyperplasia

Articles related to Lipoid Congenital Adrenal Hyperplasia:

(show top 50) (show all 847)
# Title Authors Year
1
Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-I+ Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome. ( 29294229 )
2018
2
Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumor. ( 29371828 )
2018
3
Secondary Pseudohypoaldosteronism Masquerading Congenital Adrenal Hyperplasia in a Neonate. ( 29854986 )
2018
4
Cognitive impairment in adolescents and adults with congenital adrenal hyperplasia. ( 28771762 )
2017
5
Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia. ( 28676275 )
2017
6
Clinical perspectives in congenital adrenal hyperplasia due to 11I^-hydroxylase deficiency. ( 27928728 )
2017
7
A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia. ( 28538409 )
2017
8
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations. ( 28514642 )
2017
9
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. ( 28359061 )
2017
10
Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients. ( 28879515 )
2017
11
Growth and development in children with classic congenital adrenal hyperplasia. ( 27898585 )
2017
12
Vascular and cardiac function in young adults with classical congenital adrenal hyperplasia. ( 28879650 )
2017
13
Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. ( 28787274 )
2017
14
17I+a89hydroxylase/17,20a89lyase deficiency in congenital adrenal hyperplasia: A case report. ( 27959413 )
2017
15
A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy. ( 28644547 )
2017
16
Parental management of adrenal crisis in children with congenital adrenal hyperplasia. ( 28771930 )
2017
17
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India. ( 28639595 )
2017
18
A pilot study on CYP21 gene deletions among a cohort of Sri Lankan children with congenital adrenal hyperplasia ( 28699336 )
2017
19
Testicular Adrenal Rests Tumors and Testicular Microlithiasis in a Brazilian Case Series with Classic Congenital Adrenal Hyperplasia. ( 28835760 )
2017
20
A child with hypertension and ambiguous genitalia - an uncommon variant of congenital adrenal hyperplasia: a case report. ( 28641572 )
2017
21
The influence of seasonality and manufacturer kit lot changes on 17I+-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns. ( 27900477 )
2017
22
Monitoring steroid replacement therapy in children with congenital adrenal hyperplasia. ( 27977405 )
2017
23
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum. ( 28638668 )
2017
24
Functional Analysis of Human Cytochrome P450 21A2 Variants Involved in Congenital Adrenal Hyperplasia. ( 28539365 )
2017
25
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism. ( 28669219 )
2017
26
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics. ( 28401898 )
2017
27
Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes. ( 28759182 )
2017
28
Pregnancy in women with nonclassic congenital adrenal hyperplasia: Time to conceive and outcome. ( 28731586 )
2017
29
The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort. ( 27890570 )
2017
30
Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood. ( 28720594 )
2017
31
Premature pubarche in an infant: nonclassical congenital adrenal hyperplasia or mini-puberty variant? ( 28804212 )
2017
32
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population. ( 28870780 )
2017
33
Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature. ( 28845624 )
2017
34
Testicular adrenal rest tumor screening and fertility counseling among males with congenital adrenal hyperplasia. ( 29330018 )
2017
35
Congenital Adrenal Hyperplasia with 11-Beta Hydroxylase Deficiency with Testicular Adrenal Rest Tumour. ( 28782322 )
2017
36
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11I^-hydroxylase deficiency. ( 28228528 )
2017
37
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
38
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia. ( 28819757 )
2017
39
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults. ( 28073127 )
2017
40
Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency. ( 28637490 )
2017
41
Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype. ( 28640966 )
2017
42
Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis. ( 29264571 )
2017
43
Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males. ( 27125449 )
2016
44
Correlation of Bone Mineral Parameters with Anthropometric Measurements and the Effect of Glucocorticoids on Bone Mineral Parameters in Congenital Adrenal Hyperplasia: Authors' Reply. ( 27215538 )
2016
45
21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations. ( 26804566 )
2016
46
A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance. ( 26291314 )
2016
47
Growth of a progesterone receptor-positive meningioma in a female patient with congenital adrenal hyperplasia. ( 27933170 )
2016
48
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. ( 27041116 )
2016
49
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient. ( 27047663 )
2016
50
Positive fertility outcomes in a female with classic congenital adrenal hyperplasia following bilateral adrenalectomy. ( 27212956 )
2016

Variations for Lipoid Congenital Adrenal Hyperplasia

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

75
# Symbol AA change Variation ID SNP ID
1 STAR p.Arg182Leu VAR_005627 rs104894086
2 STAR p.Glu169Gly VAR_014236
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
7 STAR p.Leu275Pro VAR_014242 rs762245736

ClinVar genetic disease variations for Lipoid Congenital Adrenal Hyperplasia:

6
(show top 50) (show all 319)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B1 NM_000497.3(CYP11B1): c.124C> T (p.Pro42Ser) single nucleotide variant Pathogenic rs104894069 GRCh37 Chromosome 8, 143961106: 143961106
2 CYP11B1 NM_000497.3(CYP11B1): c.124C> T (p.Pro42Ser) single nucleotide variant Pathogenic rs104894069 GRCh38 Chromosome 8, 142879690: 142879690
3 CYP11B1 NM_000497.3(CYP11B1): c.281C> T (p.Pro94Leu) single nucleotide variant Pathogenic rs104894070 GRCh37 Chromosome 8, 143960562: 143960562
4 CYP11B1 NM_000497.3(CYP11B1): c.281C> T (p.Pro94Leu) single nucleotide variant Pathogenic rs104894070 GRCh38 Chromosome 8, 142879146: 142879146
5 CYP17A1 NM_000102.3(CYP17A1): c.1435_1438dupATCC (p.Pro480Hisfs) duplication Pathogenic/Likely pathogenic rs556794126 GRCh38 Chromosome 10, 102830791: 102830794
6 CYP17A1 NM_000102.3(CYP17A1): c.1435_1438dupATCC (p.Pro480Hisfs) duplication Pathogenic/Likely pathogenic rs556794126 GRCh37 Chromosome 10, 104590548: 104590551
7 STAR STAR, IVS4AS, T-A, -11 single nucleotide variant Pathogenic
8 STAR NM_000349.2(STAR): c.772C> T (p.Gln258Ter) single nucleotide variant Pathogenic rs104894085 GRCh37 Chromosome 8, 38001877: 38001877
9 STAR NM_000349.2(STAR): c.772C> T (p.Gln258Ter) single nucleotide variant Pathogenic rs104894085 GRCh38 Chromosome 8, 38144359: 38144359
10 STAR NM_000349.2(STAR): c.545G> T (p.Arg182Leu) single nucleotide variant Pathogenic rs104894086 GRCh37 Chromosome 8, 38003586: 38003586
11 STAR NM_000349.2(STAR): c.545G> T (p.Arg182Leu) single nucleotide variant Pathogenic rs104894086 GRCh38 Chromosome 8, 38146068: 38146068
12 STAR STAR, 1-BP DEL, 261T deletion Pathogenic
13 STAR STAR, IVS2, 1-BP INS, T, +3 insertion Pathogenic
14 STAR NM_000349.2(STAR): c.749G> A (p.Trp250Ter) single nucleotide variant Pathogenic rs104894087 GRCh37 Chromosome 8, 38001900: 38001900
15 STAR NM_000349.2(STAR): c.749G> A (p.Trp250Ter) single nucleotide variant Pathogenic rs104894087 GRCh38 Chromosome 8, 38144382: 38144382
16 STAR NM_000349.2(STAR): c.650G> C (p.Arg217Thr) single nucleotide variant Pathogenic rs137852689 GRCh37 Chromosome 8, 38003481: 38003481
17 STAR NM_000349.2(STAR): c.650G> C (p.Arg217Thr) single nucleotide variant Pathogenic rs137852689 GRCh38 Chromosome 8, 38145963: 38145963
18 STAR NM_000349.2(STAR): c.653C> T (p.Ala218Val) single nucleotide variant Pathogenic rs137852690 GRCh37 Chromosome 8, 38002831: 38002831
19 STAR NM_000349.2(STAR): c.653C> T (p.Ala218Val) single nucleotide variant Pathogenic rs137852690 GRCh38 Chromosome 8, 38145313: 38145313
20 STAR STAR, IVS1, G-T, +1 single nucleotide variant Pathogenic
21 STAR NM_000349.2(STAR): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs104894086 GRCh37 Chromosome 8, 38003586: 38003586
22 STAR NM_000349.2(STAR): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs104894086 GRCh38 Chromosome 8, 38146068: 38146068
23 STAR NM_000349.2(STAR): c.559G> A (p.Val187Met) single nucleotide variant Pathogenic rs104894089 GRCh37 Chromosome 8, 38003572: 38003572
24 STAR NM_000349.2(STAR): c.559G> A (p.Val187Met) single nucleotide variant Pathogenic rs104894089 GRCh38 Chromosome 8, 38146054: 38146054
25 STAR NM_000349.2(STAR): c.562C> T (p.Arg188Cys) single nucleotide variant Pathogenic rs104894090 GRCh37 Chromosome 8, 38003569: 38003569
26 STAR NM_000349.2(STAR): c.562C> T (p.Arg188Cys) single nucleotide variant Pathogenic rs104894090 GRCh38 Chromosome 8, 38146051: 38146051
27 STAR STAR, 2-BP DEL, 201CT deletion Pathogenic
28 STAR NM_000349.2(STAR): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs387907235 GRCh37 Chromosome 8, 38003554: 38003554
29 STAR NM_000349.2(STAR): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs387907235 GRCh38 Chromosome 8, 38146036: 38146036
30 CYP11B1 NM_000497.3(CYP11B1): c.1120C> T (p.Arg374Trp) single nucleotide variant Likely pathogenic rs61752786 GRCh37 Chromosome 8, 143957129: 143957129
31 CYP11B1 NM_000497.3(CYP11B1): c.1120C> T (p.Arg374Trp) single nucleotide variant Likely pathogenic rs61752786 GRCh38 Chromosome 8, 142875713: 142875713
32 CYP11B1 NM_000497.3(CYP11B1): c.125C> T (p.Pro42Leu) single nucleotide variant Likely pathogenic rs193922538 GRCh37 Chromosome 8, 143961105: 143961105
33 CYP11B1 NM_000497.3(CYP11B1): c.125C> T (p.Pro42Leu) single nucleotide variant Likely pathogenic rs193922538 GRCh38 Chromosome 8, 142879689: 142879689
34 CYP11B1 NM_000497.3(CYP11B1): c.264G> A (p.Met88Ile) single nucleotide variant Likely pathogenic rs193922539 GRCh37 Chromosome 8, 143960579: 143960579
35 CYP11B1 NM_000497.3(CYP11B1): c.264G> A (p.Met88Ile) single nucleotide variant Likely pathogenic rs193922539 GRCh38 Chromosome 8, 142879163: 142879163
36 CYP11B1 NM_000497.3(CYP11B1): c.413G> A (p.Arg138His) single nucleotide variant Likely pathogenic rs193922540 GRCh37 Chromosome 8, 143958621: 143958621
37 CYP11B1 NM_000497.3(CYP11B1): c.413G> A (p.Arg138His) single nucleotide variant Likely pathogenic rs193922540 GRCh38 Chromosome 8, 142877205: 142877205
38 CYP11B1 NM_000497.3(CYP11B1): c.799+2T> C single nucleotide variant Likely pathogenic rs193922541 GRCh37 Chromosome 8, 143958096: 143958096
39 CYP11B1 NM_000497.3(CYP11B1): c.799+2T> C single nucleotide variant Likely pathogenic rs193922541 GRCh38 Chromosome 8, 142876680: 142876680
40 STAR NM_000349.2(STAR): c.135delT (p.Ser46Alafs) deletion Likely pathogenic rs193922393 GRCh37 Chromosome 8, 38006202: 38006202
41 STAR NM_000349.2(STAR): c.135delT (p.Ser46Alafs) deletion Likely pathogenic rs193922393 GRCh38 Chromosome 8, 38148684: 38148684
42 HSD3B2 NM_000198.3(HSD3B2): c.333T> G (p.Cys111Trp) single nucleotide variant Uncertain significance rs886045196 GRCh38 Chromosome 1, 119421834: 119421834
43 HSD3B2 NM_000198.3(HSD3B2): c.333T> G (p.Cys111Trp) single nucleotide variant Uncertain significance rs886045196 GRCh37 Chromosome 1, 119964457: 119964457
44 HSD3B2 NM_000198.3(HSD3B2): c.501G> A (p.Ala167=) single nucleotide variant Uncertain significance rs6207 GRCh38 Chromosome 1, 119422002: 119422002
45 HSD3B2 NM_000198.3(HSD3B2): c.501G> A (p.Ala167=) single nucleotide variant Uncertain significance rs6207 GRCh37 Chromosome 1, 119964625: 119964625
46 HSD3B2 NM_000198.3(HSD3B2): c.510G> C (p.Gly170=) single nucleotide variant Uncertain significance rs886045197 GRCh37 Chromosome 1, 119964634: 119964634
47 HSD3B2 NM_000198.3(HSD3B2): c.510G> C (p.Gly170=) single nucleotide variant Uncertain significance rs886045197 GRCh38 Chromosome 1, 119422011: 119422011
48 HSD3B2 NM_000198.3(HSD3B2): c.777G> A (p.Thr259=) single nucleotide variant Likely benign rs33926546 GRCh37 Chromosome 1, 119964901: 119964901
49 HSD3B2 NM_000198.3(HSD3B2): c.777G> A (p.Thr259=) single nucleotide variant Likely benign rs33926546 GRCh38 Chromosome 1, 119422278: 119422278
50 HSD3B2 NM_000198.3(HSD3B2): c.*177C> T single nucleotide variant Uncertain significance rs886045199 GRCh37 Chromosome 1, 119965420: 119965420

Copy number variations for Lipoid Congenital Adrenal Hyperplasia from CNVD:

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

Expression for 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:

37
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 BTD CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1
2
Show member pathways
13.04 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
3
Show member pathways
12.76 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
4 12.29 CYP11A1 CYP17A1 CYP19A1 STAR
5 11.77 CYP11A1 CYP11B1 CYP21A2 HSD3B1 HSD3B2 POMC
6
Show member pathways
11.62 CYP11A1 MC2R POMC
7
Show member pathways
11.6 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
8
Show member pathways
11.5 CYP11B1 CYP17A1 CYP19A1 HSD3B1 HSD3B2
9 11.49 CYP11A1 CYP17A1 CYP19A1 HSD3B1 HSD3B2 STAR
10
Show member pathways
11.04 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
11
Show member pathways
11.03 CYP11B1 CYP11B2 CYP17A1 CYP21A2

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 endoplasmic reticulum membrane GO:0005789 9.85 CYP17A1 CYP19A1 CYP21A2 HSD3B1 HSD3B2 POR
2 intracellular membrane-bounded organelle GO:0043231 9.8 CYP11A1 CYP11B1 CYP11B2 CYP21A2 POR
3 mitochondrial inner membrane GO:0005743 9.65 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2
4 mitochondrion GO:0005739 9.56 CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD3B1 HSD3B2
5 mitochondrial intermembrane space GO:0005758 9.5 HSD3B1 HSD3B2 STAR
6 smooth endoplasmic reticulum membrane GO:0030868 9.16 HSD3B1 HSD3B2
7 mitochondrial membrane GO:0031966 9.02 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.91 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
2 cholesterol metabolic process GO:0008203 9.86 CYP11A1 CYP11B1 CYP11B2 STAR
3 male gonad development GO:0008584 9.8 NR5A1 REN STAR
4 regulation of blood pressure GO:0008217 9.79 CYP11B1 POMC REN
5 estrogen biosynthetic process GO:0006703 9.72 CYP19A1 HSD3B1 STAR
6 small molecule metabolic process GO:0044281 9.71 CYP11A1 CYP11B1 CYP11B2
7 cellular response to peptide hormone stimulus GO:0071375 9.71 CYP11A1 CYP11B1 CYP11B2 POR
8 androgen biosynthetic process GO:0006702 9.7 CYP17A1 HSD3B1 HSD3B2
9 secondary metabolite biosynthetic process GO:0044550 9.67 CYP11A1 CYP11B1 CYP11B2
10 dehydroaustinol biosynthetic process GO:1900563 9.65 CYP11A1 CYP11B1 CYP11B2
11 sex differentiation GO:0007548 9.64 CYP17A1 SRY
12 female gonad development GO:0008585 9.63 CYP19A1 NR5A1
13 cortisol metabolic process GO:0034650 9.63 CYP11A1 CYP11B1 CYP11B2
14 sterol metabolic process GO:0016125 9.63 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
15 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.62 POR STAR
16 cellular response to potassium ion GO:0035865 9.62 CYP11B1 CYP11B2
17 C21-steroid hormone biosynthetic process GO:0006700 9.62 CYP11A1 CYP11B1 CYP11B2 STAR
18 regulation of steroid biosynthetic process GO:0050810 9.61 NR5A1 STAR
19 austinol biosynthetic process GO:1900560 9.61 CYP11A1 CYP11B1 CYP11B2
20 steroid biosynthetic process GO:0006694 9.61 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
21 cellular response to gonadotropin stimulus GO:0071371 9.6 POR STAR
22 positive regulation of male gonad development GO:2000020 9.59 NR5A1 SRY
23 testosterone biosynthetic process GO:0061370 9.58 CYP19A1 STAR
24 aldosterone biosynthetic process GO:0032342 9.58 CYP11B1 CYP11B2
25 cortisol biosynthetic process GO:0034651 9.57 CYP11B1 CYP11B2
26 mineralocorticoid biosynthetic process GO:0006705 9.56 CYP11B2 CYP21A2 HSD3B1 HSD3B2
27 glucocorticoid biosynthetic process GO:0006704 9.17 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
28 oxidation-reduction process GO:0055114 10.02 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.73 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
2 steroid hydroxylase activity GO:0008395 9.63 CYP11B2 CYP19A1 CYP21A2
3 heme binding GO:0020037 9.63 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 9.62 CYP11A1 CYP11B1 CYP11B2 POR
5 oxidoreductase activity GO:0016491 9.61 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
6 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.49 HSD3B1 HSD3B2
7 steroid delta-isomerase activity GO:0004769 9.48 HSD3B1 HSD3B2
8 corticosterone 18-monooxygenase activity GO:0047783 9.43 CYP11B1 CYP11B2
9 steroid 11-beta-monooxygenase activity GO:0004507 9.4 CYP11B1 CYP11B2
10 cholesterol dehydrogenase activity GO:0102294 9.37 HSD3B1 HSD3B2
11 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2

Sources for Lipoid Congenital Adrenal Hyperplasia

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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