LCAH
MCID: LPD012
MIFTS: 70

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 56 74 52 54 71
Congenital Adrenal Hyperplasia 12 74 52 58 36 29 6 15 71
Congenital Lipoid Adrenal Hyperplasia 12 52 73
Lipoid Adrenal Hyperplasia 56 29 13
Lipoid Cah 12 52 73
Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 52 58
Adrenal Hyperplasia, Congenital 74 43
Adrenal Hyperplasia 1 12 73
Clah 52 58
Cah 52 58
Lipoid Hyperplasia, Congenital, of Adrenal Cortex with Male Pseudohermaphroditism 56
Congenital Lipoid Hyperplasia of Adrenal Cortex with Male Pseudohermaphroditism 73
Hyperplasia, Adrenal, Lipoid, Congenital 39
Congenital Adrenal Hyperplasia, Lipoid 74
Congenital Adrenal Hyperplasia Lipoid 52
Adrenal Hyperplasia Congenital 54
Adrenal Hyperplasia I 56
Lcah 56
Ah1 73

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:

56
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

NIH Rare Diseases : 52 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 Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include ovary, bone and testes, and related phenotypes are delayed skeletal maturation and short stature

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 : 56 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)

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 : 73 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 : 74 Congenital adrenal hyperplasia is any of several autosomal recessive diseases resulting from mutations... 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 415)
# Related Disease Score Top Affiliating Genes
1 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 35.0 POMC CYP21A2
2 3-beta-hydroxysteroid dehydrogenase deficiency 34.3 HSD3B2 CYP21A2
3 acth-independent macronodular adrenal hyperplasia 33.3 POMC MC2R HSD3B1 GNRH1 CYP11B1
4 cytochrome p450 oxidoreductase deficiency 33.2 POR POMC CYP21A2 CYP17A1
5 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 33.0 STAR POR POMC NR0B1 HSD3B2 CYP21A2
6 precocious puberty 31.7 GNRH1 CYP21A2 CYP19A1
7 primary adrenal insufficiency 31.5 NR0B1 CYP21A2
8 hypokalemia 31.2 REN POMC CYP17A1 CYP11B1
9 amenorrhea 31.1 POR POMC NR5A1 GNRH1 CYP19A1 CYP17A1
10 hyperandrogenism 31.0 SRD5A1 POMC HSD3B2 GNRH1 CYP21A2 CYP19A1
11 hypospadias 31.0 SRD5A1 NR5A1 HSD3B2 CYP17A1 CYP11A1
12 adenoma 31.0 REN POMC MC2R CYP21A2 CYP11B2 CYP11B1
13 hypoaldosteronism 31.0 REN POMC CYP11B2
14 adrenocortical carcinoma, hereditary 30.9 STAR MC2R CYP17A1 CYP11A1
15 adrenal rest tumor 30.9 POMC NR5A1 MC2R HSD3B2 CYP21A2 CYP11B2
16 male infertility 30.9 NR5A1 GNRH1 CYP21A2 CYP19A1
17 gender identity disorder 30.7 CYP19A1 CYP17A1
18 acute adrenal insufficiency 30.7 REN POMC CYP21A2 CYP11A1
19 turner syndrome 30.7 POMC NR0B1 CYP21A2
20 polycystic ovary syndrome 30.6 STAR SRD5A1 POMC HSD3B2 GNRH1 CYP21A2
21 waterhouse-friderichsen syndrome 30.6 POMC MC2R
22 antley-bixler syndrome 30.5 POR POMC CYP21A2 CYP19A1 CYP17A1 CYP11A1
23 acth-independent cushing syndrome 30.5 CYP21A2 CYP11B1
24 apparent mineralocorticoid excess 30.5 REN POMC CYP11B2 CYP11B1
25 adrenal adenoma 30.5 REN POMC MC2R CYP21A2 CYP17A1 CYP11B2
26 hydronephrosis 30.5 REN CYP19A1 CYP17A1
27 adrenogenital syndrome 30.5 CYP21A2 CYP21A1P
28 leydig cell tumor 30.4 STAR NR5A1 NR0B1 GNRH1 CYP21A2 CYP19A1
29 pseudohyperkalemia, familial, 2, due to red cell leak 30.4 REN CYP21A2 CYP11B2
30 anovulation 30.4 SRD5A1 GNRH1 CYP21A2 CYP19A1
31 mixed gonadal dysgenesis 30.4 SRD5A1 NR5A1 CYP21A2
32 hyperaldosteronism, familial, type i 30.4 REN POMC CYP17A1 CYP11B2 CYP11B1
33 luteoma 30.3 GNRH1 CYP21A2 CYP19A1
34 adrenal cortical adenoma 30.3 REN POMC NR5A1 MC2R CYP21A2 CYP17A1
35 alopecia, androgenetic, 1 30.3 SRD5A1 CYP21A2 CYP19A1
36 hypogonadotropic hypogonadism 30.3 NR5A1 NR0B1 GNRH1 CYP19A1
37 smith-lemli-opitz syndrome 30.3 STAR CYP19A1 CYP17A1 CYP11A1
38 pseudohermaphroditism 30.3 STAR SRD5A1 POMC NR5A1 NR0B1 HSD3B2
39 gynecomastia 30.2 SRD5A1 POMC GNRH1 CYP21A2 CYP19A1
40 body mass index quantitative trait locus 11 30.1 STAR REN POMC NR5A1 MC2R CYP21A2
41 adrenal hypoplasia, congenital 30.1 STAR POMC NR5A1 NR0B1 MC2R HSD3B2
42 conn's syndrome 30.0 REN POMC NR0B1 MC2R GNRH1 CYP21A2
43 adrenal cortical carcinoma 30.0 REN POMC NR5A1 MC2R HSD3B2 CYP21A2
44 ovarian disease 30.0 STAR REN POMC HSD3B1 GNRH1 CYP19A1
45 familial glucocorticoid deficiency 29.8 STAR REN POMC NR5A1 NR0B1 MC2R
46 adrenal cortical hypofunction 29.7 STAR REN POMC NR5A1 NR0B1 MC2R
47 disorders of sexual development 29.4 STAR POMC NR5A1 NR0B1 HSD3B2 HSD3B1
48 hypoadrenocorticism, familial 29.4 STAR REN POMC NR5A1 NR0B1 MC2R
49 cryptorchidism, unilateral or bilateral 29.4 STAR SRD5A1 POMC NR5A1 NR0B1 HSD3B2
50 adrenal carcinoma 29.2 STAR REN POMC NR5A1 NR0B1 HSD3B2

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 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
4 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
5 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
6 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
7 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939
8 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
9 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000028
10 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
11 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
12 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
13 hypercholesterolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003124
14 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
15 abnormality of the menstrual cycle 58 31 hallmark (90%) Very frequent (99-80%) HP:0000140
16 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
17 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
18 hyperkalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002153
19 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
20 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
21 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
22 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
23 ambiguous genitalia, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0000033
24 urogenital sinus anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100779
25 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
26 female pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0010458
27 decreased fertility in males 58 31 hallmark (90%) Very frequent (99-80%) HP:0012041
28 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
29 decreased fertility in females 58 31 hallmark (90%) Very frequent (99-80%) HP:0000868
30 sex reversal 58 31 hallmark (90%) Very frequent (99-80%) HP:0012245
31 adrenocortical adenoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0008256
32 elevated circulating follicle stimulating hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0008232
33 female external genitalia in individual with 46,xy karyotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0008730
34 elevated circulating luteinizing hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011969
35 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
36 hypovolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011106
37 abnormal spermatogenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008669
38 abnormality of prenatal development or birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001197
39 decreased circulating androgen level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030349
40 congenital adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008258
41 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
42 decreased circulating cortisol level 58 31 hallmark (90%) Very frequent (99-80%) HP:0008163
43 adrenocorticotropic hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0011749
44 renal salt wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000127
45 adrenogenital syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000840
46 hypernatriuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012605
47 ectopic adrenal gland 58 31 hallmark (90%) Very frequent (99-80%) HP:0011742
48 increased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000848
49 acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001941
50 abnormal urine potassium concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0012598

Symptoms via clinical synopsis from OMIM:

56
G U:
hypospadias
phenotypic female

Metabolic:
salt-wasting

Endo:
adrenogenital syndrome
lipoid adrenal hyperplasia

Lab:
20, 22 desmolase deficiency

Clinical features from OMIM:

201710

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

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.16 CYP11A1 CYP21A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.16 NR5A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.16 CYP21A1P CYP21A2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.16 CYP11A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.16 CYP11A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.16 NR5A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.16 CYP21A1P CYP21A2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.16 CYP21A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.16 CYP21A1P CYP21A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.16 CYP11A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.16 NR5A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-184 10.16 CYP11A1 CYP21A1P CYP21A2 NR5A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.16 CYP21A2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.16 NR5A1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-203 10.16 CYP21A2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-206 10.16 CYP21A1P CYP21A2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.16 CYP21A2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.16 CYP21A2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.16 CYP11A1 NR5A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.16 CYP21A1P CYP21A2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.16 CYP21A1P CYP21A2
22 Reduced mammosphere formation GR00396-S 9.23 C4A CYP11B1 CYP21A2 HSD3B2 MC2R NR0B1

MGI Mouse Phenotypes related to Lipoid Congenital Adrenal Hyperplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 BTD CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2
2 endocrine/exocrine gland MP:0005379 10.1 CYP11A1 CYP11B1 CYP11B2 CYP19A1 GNRH1 MC2R
3 cardiovascular system MP:0005385 10.07 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 MC2R
4 growth/size/body region MP:0005378 10.07 BTD CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1
5 homeostasis/metabolism MP:0005376 10 BTD CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1
6 renal/urinary system MP:0005367 9.56 BTD CYP11B1 CYP11B2 CYP19A1 GNRH1 POMC
7 reproductive system MP:0005389 9.36 CYP11A1 CYP11B2 CYP17A1 CYP19A1 GNRH1 NR0B1

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 101)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Cosyntropin Approved Phase 4 16960-16-0 16129617
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
7
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
8
Cortisone Experimental Phase 4 53-06-5 222786
9 Epinephryl borate Phase 4
10 Hormones Phase 4
11 Calcium, Dietary Phase 4
12 Hydrocortisone 17-butyrate 21-propionate Phase 4
13 Hydrocortisone hemisuccinate Phase 4
14 Hormone Antagonists Phase 4
15 Trace Elements Phase 4
16 Micronutrients Phase 4
17 Vitamins Phase 4
18 Mitogens Phase 4
19 Endothelial Growth Factors Phase 4
20 Nutrients Phase 4
21 Calciferol Phase 4
22 Angiogenesis Inducing Agents Phase 4
23
Calcium Nutraceutical Phase 4 7440-70-2 271
24
Sodium citrate Approved, Investigational Phase 3 68-04-2
25
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
26
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
27
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
28
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
30
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
31 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
32
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
33
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
34
Enclomiphene Investigational Phase 3 15690-57-0
35
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
36 BB 1101 Phase 2, Phase 3
37 Estrogen Antagonists Phase 3
38 Estrogen Receptor Antagonists Phase 3
39 Estrogens Phase 3
40 Citrate Phase 3
41 Clomiphene Phase 3
42 Estrogen Receptor Modulators Phase 3
43 Zuclomiphene Phase 3
44 Raloxifene Hydrochloride Phase 3
45 Progestins Phase 2, Phase 3
46 glucocorticoids Phase 3
47 Anti-Inflammatory Agents Phase 3
48 Antineoplastic Agents, Hormonal Phase 3
49 Methylprednisolone Acetate Phase 3
50 Hydrocortisone-17-butyrate Phase 3

Interventional clinical trials:

(show top 50) (show all 82)
# Name Status NCT ID Phase Drugs
1 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Completed NCT00851942 Phase 4 Synacthen (Tetracosactrin)
2 The Effects of Vitamin D Supplementation on Transforming Growth Factor-beta1 and Vascular Endothelial Growth Factor in Vitamin D-Deficient Women With Polycystic Ovary Syndrome: A Randomized Placebo-Controlled Trial Completed NCT02460380 Phase 4 Vitamin D3
3 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)
4 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
5 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
6 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®
7 Induction of Ovulation With Raloxifene or Clomiphene Citrate in Polycystic Ovarian Syndrome Completed NCT00427700 Phase 3 clomiphene citrate;raloxifene
8 Extended Clomiphene Citrate Regimen Versus Laparoscopic Ovarian Drilling for Ovulation Induction in Clomiphene Citrate-resistant Women With Polycystic Ovary Syndrome Completed NCT02381184 Phase 2, Phase 3 clomiphene citrate
9 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
10 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
11 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
12 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Unknown status NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
13 A Phase 2, Multicenter Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
14 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
15 A 3-Month Phase 2 Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia Completed NCT03687242 Phase 2 SPR001
16 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
17 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
18 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
19 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
20 A Pilot Study Assessing the Use of Continuous Subcutaneous Hydrocortisone Infusion in the Treatment of Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
21 A Phase 2, Open-Label, Multiple-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Pediatric Subjects With Congenital Adrenal Hyperplasia Recruiting NCT04045145 Phase 2 NBI-74788
22 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 Recruiting NCT03525886 Phase 2 NBI-74788
23 A Multicenter Dose-Titration Open-Label Study of Nevanimibe Hydrochloride for the Treatment of Classic Congenital Adrenal Hyperplasia Recruiting NCT03669549 Phase 2 Nevanimibe hydrochloride
24 Comparison of Metformin and Pioglitazone in Regulating Menstrual Irregularities and Hyperandrogenism Recruiting NCT03757923 Phase 1, Phase 2 TAB METFORMIN;TAB PIOGLITAZONE
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
26 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
27 Calcium Channel Blockade in Primary Aldosteronism Not yet recruiting NCT04179019 Phase 2 Amlodipine
28 Luteal Phase Versus Follicular Phase Administration of Clomiphene Citrate in PCOS, A Randomized Controlled Trial Unknown status NCT02024984 Phase 1 Clomiphene Citrate
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 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
36 An Adult Height Prediction Model for Congenital Adrenal Hyperplasia From a National Cohort (OPALE Model Study) Unknown status NCT03162159
37 Multicentric Evaluation of in Utero Dexamethasone (DEX) on the Cognitive Development of Children at Risk of Congenital Adrenal Hyperplasia Unknown status NCT02795871
38 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
39 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
40 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
41 Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency Unknown status NCT00694525
42 Dynamic Hormone Diagnostics (Ultradian) Unknown status NCT02934399
43 Prevalence of Mutations of Glucocorticoid Receptors in Bilateral Adrenal Hyperplasia Unknown status NCT02810496
44 Descriptive, Transversal Study of Evaluation of Cardiovascular Risks Factors and Prevalence of Metabolic Syndrome in the Different Phenotypes of Women With Polycystic Ovary Syndrome Unknown status NCT00784615
45 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
46 Effects of Pioglitazone in Glucocorticoid-Induced Insulin Resistance. Studies in Congenital Adrenal Hyperplasia. Completed NCT00151710 Pioglitazone
47 Evaluation of the Adult Height Gain With Growth Hormone Treatment in Children With Congenital Adrenal Hyperplasia (CDAH), Using the OPALE Prediction Model Completed NCT03162172
48 Clinical Evaluation of the xMAP® NeoPlex4™ Assay for Detection of T4, TSH, 17-OHP and IRT Using the NeoPlex System Completed NCT01488721
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 71 / NDF-RT 50 :


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

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
Ovary, Bone, Testes, Adrenal Gland, Cortex, Adrenal Cortex, Pituitary

Publications for Lipoid Congenital Adrenal Hyperplasia

Articles related to Lipoid Congenital Adrenal Hyperplasia:

(show top 50) (show all 4754)
# 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 56 61 54
16968793 2006
2
Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. 6 54 56
11061515 2000
3
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. 56 6
8948562 1996
4
T-->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. 6 56
8634702 1995
5
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. 56 6
7892608 1995
6
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. 6 61 54
20089618 2010
7
Phenotypic features associated with mutations in steroidogenic acute regulatory protein. 54 61 6
16118340 2005
8
Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia. 61 54 6
11509019 2001
9
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. 6 61 54
10599696 1999
10
Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. 56 61 54
1661294 1991
11
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. 54 6
17666473 2007
12
Congenital adrenal hyperplasia in a Nigerian child with a novel compound heterozygote mutation in CYP11B1. 6 61
17371482 2007
13
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein. 54 6
14764819 2004
14
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
15
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. 6 61
9141542 1997
16
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. 6 61
3038528 1987
17
Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. 61 56
3841304 1985
18
Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone. 61 56
4295130 1968
19
A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. 6
15546900 2005
20
A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. 6
10566637 1999
21
A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. 6
9215316 1997
22
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. 56
9077535 1997
23
Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes. 56
2419119 1986
24
Genetics and pathology of hereditary adrenal hyperplasia in the rabbit: a model for congenital lipoid adrenal hyperplasia. 56
731013 1978
25
Congenital lipoid adrenal hyperplasia in an eight-year-old phenotypic female. 56
4685387 1973
26
Evidence for deficient 20 -cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia. 56
4678198 1972
27
The adrenogenital syndrome. 56
13968788 1963
28
[On the genitics of congenital lipoid hyperplasia of the adrenals]. 56
13985885 1962
29
[Adrenal insufficiency in congenital lipoid hyperplasia of the adrenals]. 56
13512944 1957
30
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other. 54 61
20024693 2010
31
ACTH receptor blockade: a novel approach to treat congenital adrenal hyperplasia, or Cushing's disease. 61 54
19931309 2010
32
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 54 61
20080854 2010
33
Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency. 61 54
19508587 2010
34
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the pre-screening era. 61 54
20206839 2010
35
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. 54 61
19884324 2010
36
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. 61 54
20124576 2010
37
An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. 61 54
20339513 2010
38
Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia. 54 61
19778530 2009
39
Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization. 61 54
19925038 2009
40
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. 54 61
19773404 2009
41
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia. 61 54
19170707 2009
42
Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients. 61 54
19567537 2009
43
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. 54 61
19454579 2009
44
Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency. 61 54
19499410 2009
45
Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 61 54
19530065 2009
46
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. 61 54
18853185 2009
47
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. 61 54
19208730 2009
48
Gonadal function, first cases of pregnancy, and child delivery in a woman with lipoid congenital adrenal hyperplasia. 61 54
19158201 2009
49
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. 54 61
19263525 2009
50
Toward the NMR structure of StAR. 61 54
19138724 2009

Variations for Lipoid Congenital Adrenal Hyperplasia

ClinVar genetic disease variations for Lipoid Congenital Adrenal Hyperplasia:

6 (show top 50) (show all 130) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAR NM_000349.3(STAR):c.64+1G>TSNV Pathogenic 550998 rs765968701 8:38008272-38008272 8:38150754-38150754
2 STAR NM_000349.3(STAR):c.197_198CT[2] (p.Tyr68fs)short repeat Pathogenic 586680 rs1563268652 8:38005822-38005823 8:38148304-38148305
3 STAR NM_000349.3(STAR):c.125dup (p.Thr44fs)duplication Pathogenic 632520 rs750549499 8:38006211-38006212 8:38148693-38148694
4 CYP11B1 NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser)SNV Pathogenic 1179 rs104894069 8:143961106-143961106 8:142879690-142879690
5 CYP11B1 NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu)SNV Pathogenic 1186 rs104894070 8:143960562-143960562 8:142879146-142879146
6 STAR NM_000349.3(STAR):c.772C>T (p.Gln258Ter)SNV Pathogenic 8987 rs104894085 8:38001877-38001877 8:38144359-38144359
7 STAR NM_000349.3(STAR):c.545G>T (p.Arg182Leu)SNV Pathogenic 8988 rs104894086 8:38003586-38003586 8:38146068-38146068
8 STAR STAR, 1-BP DEL, 261Tdeletion Pathogenic 8989
9 STAR NM_000349.3(STAR):c.178+2dupduplication Pathogenic 8990 rs1563268785 8:38006156-38006157 8:38148638-38148639
10 STAR NM_000349.3(STAR):c.749G>A (p.Trp250Ter)SNV Pathogenic 8991 rs104894087 8:38001900-38001900 8:38144382-38144382
11 STAR NM_000349.3(STAR):c.650G>C (p.Arg217Thr)SNV Pathogenic 8992 rs137852689 8:38003481-38003481 8:38145963-38145963
12 STAR NM_000349.3(STAR):c.653C>T (p.Ala218Val)SNV Pathogenic 8993 rs137852690 8:38002831-38002831 8:38145313-38145313
13 STAR NM_000349.3(STAR):c.577C>T (p.Arg193Ter)SNV Pathogenic 35553 rs387907235 8:38003554-38003554 8:38146036-38146036
14 STAR NM_000349.3(STAR):c.562C>T (p.Arg188Cys)SNV Pathogenic 8997 rs104894090 8:38003569-38003569 8:38146051-38146051
15 STAR NM_000349.3(STAR):c.545G>A (p.Arg182His)SNV Pathogenic/Likely pathogenic 8995 rs104894086 8:38003586-38003586 8:38146068-38146068
16 STAR NM_000349.3(STAR):c.559G>A (p.Val187Met)SNV Pathogenic/Likely pathogenic 8996 rs104894089 8:38003572-38003572 8:38146054-38146054
17 STAR NM_000349.3(STAR):c.505G>A (p.Glu169Lys)SNV Pathogenic/Likely pathogenic 448533 rs747169620 8:38003626-38003626 8:38146108-38146108
18 STAR NM_000349.3(STAR):c.811del (p.Leu271fs)deletion Pathogenic/Likely pathogenic 556387 rs1350908961 8:38001838-38001838 8:38144320-38144320
19 STAR NM_000349.3(STAR):c.714del (p.Lys238fs)deletion Pathogenic/Likely pathogenic 558171 rs1417088430 8:38002770-38002770 8:38145252-38145252
20 STAR NM_000349.3(STAR):c.135del (p.Ser46fs)deletion Pathogenic/Likely pathogenic 36782 rs193922393 8:38006202-38006202 8:38148684-38148684
21 CYP11B1 NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile)SNV Likely pathogenic 35988 rs193922539 8:143960579-143960579 8:142879163-142879163
22 CYP11B1 NM_000497.3(CYP11B1):c.799+2T>CSNV Likely pathogenic 35990 rs193922541 8:143958096-143958096 8:142876680-142876680
23 STAR NM_000349.3(STAR):c.64+2T>CSNV Likely pathogenic 557853 rs1298369560 8:38008271-38008271 8:38150753-38150753
24 STAR NM_000349.3(STAR):c.629_630del (p.Pro210fs)deletion Likely pathogenic 370502 rs771895449 8:38003501-38003502 8:38145983-38145984
25 STAR NM_000349.3(STAR):c.695del (p.Gly232fs)deletion Likely pathogenic 558205 rs757367795 8:38002789-38002789 8:38145271-38145271
26 STAR NM_000349.3(STAR):c.801dup (p.Ala268fs)duplication Likely pathogenic 551209 rs1554502663 8:38001847-38001848 8:38144329-38144330
27 STAR NM_000349.3(STAR):c.716_732del (p.Leu239fs)deletion Likely pathogenic 554730 rs1554502725 8:38002752-38002768 8:38145234-38145250
28 STAR NM_000349.3(STAR):c.779T>C (p.Leu260Pro)SNV Likely pathogenic 553482 rs551783234 8:38001870-38001870 8:38144352-38144352
29 STAR NM_000349.3(STAR):c.544C>T (p.Arg182Cys)SNV Likely pathogenic 550550 rs369232492 8:38003587-38003587 8:38146069-38146069
30 STAR NM_000349.3(STAR):c.296_297AG[1] (p.Gln101fs)short repeat Likely pathogenic 551640 rs765904696 8:38005725-38005726 8:38148207-38148208
31 STAR NM_000349.3(STAR):c.179-2A>GSNV Likely pathogenic 555439 rs1554502986 8:38005847-38005847 8:38148329-38148329
32 STAR NM_000349.3(STAR):c.178+1G>CSNV Likely pathogenic 557688 rs1554503011 8:38006158-38006158 8:38148640-38148640
33 STAR NM_000349.3(STAR):c.745-1_757deldeletion Likely pathogenic 558587 rs1554502668 8:38001892-38001905 8:38144374-38144387
34 STAR NM_000349.3(STAR):c.677del (p.Val226fs)deletion Likely pathogenic 554752 rs1554502732 8:38002807-38002807 8:38145289-38145289
35 STAR NM_000349.3(STAR):c.651-1G>CSNV Likely pathogenic 558210 rs749626865 8:38002834-38002834 8:38145316-38145316
36 CYP11B1 NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp)SNV Likely pathogenic 35982 rs61752786 8:143957129-143957129 8:142875713-142875713
37 CYP11B1 NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu)SNV Likely pathogenic 35986 rs193922538 8:143961105-143961105 8:142879689-142879689
38 STAR NM_000349.3(STAR):c.229C>T (p.Gln77Ter)SNV Likely pathogenic 553713 rs781281145 8:38005795-38005795 8:38148277-38148277
39 CYP11B1 NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp)SNV Conflicting interpretations of pathogenicity 35977 rs61752766 8:143957246-143957246 8:142875830-142875830
40 CYP11B1 NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=)SNV Conflicting interpretations of pathogenicity 35987 rs9657022 8:143960600-143960600 8:142879184-142879184
41 CYP11B1 NM_000497.3(CYP11B1):c.1122-20A>GSNV Conflicting interpretations of pathogenicity 35984 rs61752794 8:143956748-143956748 8:142875332-142875332
42 CYP11B1 NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=)SNV Conflicting interpretations of pathogenicity 35985 rs5293 8:143956706-143956706 8:142875290-142875290
43 STAR NM_000349.3(STAR):c.289_291AAG[1] (p.Lys98del)short repeat Conflicting interpretations of pathogenicity 550533 rs146872295 8:38005730-38005732 8:38148212-38148214
44 STAR NM_000349.3(STAR):c.687G>A (p.Pro229=)SNV Conflicting interpretations of pathogenicity 778392 8:38002797-38002797 8:38145279-38145279
45 STAR NM_000349.3(STAR):c.141G>A (p.Thr47=)SNV Conflicting interpretations of pathogenicity 717333 8:38006196-38006196 8:38148678-38148678
46 STAR NM_000349.3(STAR):c.481G>A (p.Gly161Arg)SNV Conflicting interpretations of pathogenicity 729748 8:38003650-38003650 8:38146132-38146132
47 STAR NM_000349.3(STAR):c.306+10G>ASNV Conflicting interpretations of pathogenicity 730437 8:38005708-38005708 8:38148190-38148190
48 STAR NM_000349.3(STAR):c.108C>T (p.Asn36=)SNV Conflicting interpretations of pathogenicity 764058 8:38006229-38006229 8:38148711-38148711
49 HSD3B2 NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)SNV Conflicting interpretations of pathogenicity 36370 rs35887327 1:119964831-119964831 1:119422208-119422208
50 STAR NM_000349.3(STAR):c.504C>T (p.His168=)SNV Conflicting interpretations of pathogenicity 362844 rs147138315 8:38003627-38003627 8:38146109-38146109

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

73
# 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 STAR SRD5A1 POR POMC HSD3B2 HSD3B1
2
Show member pathways
13.04 POR POMC CYP21A2 CYP19A1 CYP17A1 CYP11B2
3
Show member pathways
12.7 STAR POMC NR5A1 NR0B1 MC2R HSD3B2
4 12.29 STAR CYP19A1 CYP17A1 CYP11A1
5 11.77 STAR POMC HSD3B2 HSD3B1 CYP21A2 CYP11B1
6
Show member pathways
11.62 POMC MC2R CYP11A1
7
Show member pathways
11.53 HSD3B2 HSD3B1 CYP19A1 CYP17A1 CYP11B1
8 11.51 STAR HSD3B2 HSD3B1 CYP19A1 CYP17A1 CYP11A1
9
Show member pathways
11.44 SRD5A1 HSD3B2 HSD3B1 CYP21A2 CYP19A1 CYP17A1
10
Show member pathways
11.31 STAR SRD5A1 POMC HSD3B2 HSD3B1 CYP21A2
11
Show member pathways
11.11 SRD5A1 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 endoplasmic reticulum GO:0005783 9.98 SRD5A1 POR HSD3B2 HSD3B1 CYP21A2 CYP19A1
2 mitochondrion GO:0005739 9.86 STAR POR HSD3B2 HSD3B1 GNRH1 CYP11B2
3 mitochondrial inner membrane GO:0005743 9.77 HSD3B2 HSD3B1 CYP11B2 CYP11B1 CYP11A1
4 endoplasmic reticulum membrane GO:0005789 9.7 SRD5A1 POR HSD3B2 HSD3B1 CYP21A2 CYP19A1
5 mitochondrial intermembrane space GO:0005758 9.58 STAR HSD3B2 HSD3B1
6 smooth endoplasmic reticulum membrane GO:0030868 9.32 HSD3B2 HSD3B1
7 organelle membrane GO:0031090 9.26 SRD5A1 CYP21A2 CYP19A1 CYP17A1
8 intracellular membrane-bounded organelle GO:0043231 9.23 SRD5A1 POR NR0B1 HSD3B2 HSD3B1 CYP21A2

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.07 SRD5A1 HSD3B1 CYP11B2 CYP11B1 CYP11A1
2 oxidation-reduction process GO:0055114 10.02 SRD5A1 POR HSD3B2 HSD3B1 CYP21A2 CYP19A1
3 response to drug GO:0042493 9.98 STAR SRD5A1 REN POR
4 steroid metabolic process GO:0008202 9.91 SRD5A1 HSD3B1 CYP21A2 CYP17A1 CYP11B2 CYP11A1
5 male gonad development GO:0008584 9.89 STAR SRD5A1 REN NR5A1 NR0B1
6 cholesterol metabolic process GO:0008203 9.87 STAR CYP11B2 CYP11B1 CYP11A1
7 response to organic cyclic compound GO:0014070 9.85 STAR SRD5A1 GNRH1
8 electron transport chain GO:0022900 9.84 SRD5A1 POR CYP19A1
9 hippocampus development GO:0021766 9.82 SRD5A1 HSD3B2 HSD3B1
10 regulation of blood pressure GO:0008217 9.8 REN POMC CYP11B1
11 cellular response to peptide hormone stimulus GO:0071375 9.78 POR CYP11B2 CYP11B1 CYP11A1
12 response to corticosterone GO:0051412 9.73 STAR HSD3B2 HSD3B1
13 male sex determination GO:0030238 9.72 NR5A1 NR0B1 GNRH1
14 estrogen biosynthetic process GO:0006703 9.71 STAR HSD3B1 CYP19A1
15 C21-steroid hormone biosynthetic process GO:0006700 9.71 STAR CYP11B2 CYP11B1 CYP11A1
16 C21-steroid hormone metabolic process GO:0008207 9.7 HSD3B2 HSD3B1 CYP11A1
17 sex determination GO:0007530 9.69 SRD5A1 NR5A1 NR0B1
18 androgen metabolic process GO:0008209 9.67 SRD5A1 CYP19A1
19 androgen biosynthetic process GO:0006702 9.67 SRD5A1 HSD3B2 HSD3B1 CYP17A1
20 cellular response to epinephrine stimulus GO:0071872 9.66 STAR SRD5A1
21 hypothalamus development GO:0021854 9.66 SRD5A1 NR0B1
22 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.65 STAR POR
23 cellular response to potassium ion GO:0035865 9.65 CYP11B2 CYP11B1
24 progesterone metabolic process GO:0042448 9.65 SRD5A1 CYP17A1
25 sterol metabolic process GO:0016125 9.65 CYP21A2 CYP19A1 CYP11B2 CYP11B1 CYP11A1
26 regulation of steroid biosynthetic process GO:0050810 9.64 STAR NR5A1
27 cellular response to gonadotropin stimulus GO:0071371 9.63 STAR POR
28 cortisol metabolic process GO:0034650 9.63 CYP11B2 CYP11B1 CYP11A1
29 response to fungicide GO:0060992 9.62 STAR SRD5A1
30 testosterone biosynthetic process GO:0061370 9.62 STAR CYP19A1
31 female genitalia development GO:0030540 9.61 SRD5A1 CYP19A1
32 androgen catabolic process GO:0006710 9.61 SRD5A1 CYP19A1
33 diterpenoid metabolic process GO:0016101 9.6 STAR SRD5A1
34 circadian sleep/wake cycle, REM sleep GO:0042747 9.59 STAR SRD5A1
35 cortisol biosynthetic process GO:0034651 9.58 CYP11B2 CYP11B1
36 aldosterone biosynthetic process GO:0032342 9.58 CYP11B2 CYP11B1
37 glucocorticoid biosynthetic process GO:0006704 9.5 HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2 CYP11B1
38 mineralocorticoid biosynthetic process GO:0006705 9.46 HSD3B2 HSD3B1 CYP21A2 CYP11B2
39 steroid biosynthetic process GO:0006694 9.36 STAR SRD5A1 NR0B1 HSD3B2 HSD3B1 CYP21A2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.8 CYP21A2 CYP19A1 CYP17A1 CYP11B2 CYP11B1 CYP11A1
2 iron ion binding GO:0005506 9.73 CYP21A2 CYP19A1 CYP17A1 CYP11B2 CYP11B1 CYP11A1
3 electron transfer activity GO:0009055 9.69 SRD5A1 POR CYP19A1
4 steroid hydroxylase activity GO:0008395 9.63 CYP21A2 CYP19A1 CYP11B2
5 monooxygenase activity GO:0004497 9.63 CYP21A2 CYP19A1 CYP17A1 CYP11B2 CYP11B1 CYP11A1
6 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.49 HSD3B2 HSD3B1
7 steroid delta-isomerase activity GO:0004769 9.48 HSD3B2 HSD3B1
8 cholesterol dehydrogenase activity GO:0102294 9.43 HSD3B2 HSD3B1
9 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 CYP21A2 CYP19A1 CYP17A1 CYP11B2 CYP11B1 CYP11A1
10 corticosterone 18-monooxygenase activity GO:0047783 9.4 CYP11B2 CYP11B1
11 steroid 11-beta-monooxygenase activity GO:0004507 9.37 CYP11B2 CYP11B1
12 oxidoreductase activity GO:0016491 9.32 SRD5A1 POR HSD3B2 HSD3B1 CYP21A2 CYP19A1

Sources for Lipoid Congenital Adrenal Hyperplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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