LCAH
MCID: LPD012
MIFTS: 70

Lipoid Congenital Adrenal Hyperplasia (LCAH)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Lipoid Congenital Adrenal Hyperplasia

MalaCards integrated aliases for Lipoid Congenital Adrenal Hyperplasia:

Name: Lipoid Congenital Adrenal Hyperplasia 57 19 75 53 71
Congenital Adrenal Hyperplasia 11 19 58 75 28 5 14 71 33
Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 19 58 28 5
Congenital Lipoid Adrenal Hyperplasia 11 19 73
Lipoid Cah 11 19 73
Lipoid Adrenal Hyperplasia 57 12
Adrenal Hyperplasia 1 11 73
Clah 19 58
Cah 19 58
Lipoid Hyperplasia, Congenital, of Adrenal Cortex with Male Pseudohermaphroditism 57
Congenital Lipoid Hyperplasia of Adrenal Cortex with Male Pseudohermaphroditism 73
Congenital Adrenogenital Disorders Associated with Enzyme Deficiency 33
Congenital Female Adrenal Pseudohermaphroditism 33
Hyperplasia, Adrenal, Lipoid, Congenital 38
Congenital Adrenal Cortical Hyperplasia 33
Congenital Adrenal Hyperplasia, Lipoid 75
Congenital Adrenal Hyperplasia Lipoid 19
Congenital Adrenal Gland Hyperplasia 33
Congenital Adrenogenital Syndrome 33
Adrenal Hyperplasia, Congenital 75
Congenital Hyperadrenocorticism 33
Adrenal Hyperplasia Congenital 53
Congenital Adrenogenitalism 33
Adrenal Hyperplasia I 57
Lcah 57
Ah1 73

Characteristics:


Inheritance:

Lipoid Congenital Adrenal Hyperplasia: Autosomal recessive 57
Congenital Adrenal Hyperplasia: Autosomal recessive 58
Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency: Autosomal recessive 58

Prevelance:

Congenital Adrenal Hyperplasia: 1-5/10000 (Europe, Germany, Sweden, India) 1-9/100000 (Europe, France, Belgium, Switzerland, New Zealand, Cuba, Taiwan, Province of China, China, Czech Republic) 58

Age Of Onset:

Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency: Childhood,Infancy,Neonatal 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:0050811
OMIM® 57 201710
ICD9CM 34 255.2
MeSH 43 D000312
SNOMED-CT 68 154706003
ICD10 31 E25
MESH via Orphanet 44 C537027 D000312
ICD10 via Orphanet 32 E25.0
UMLS via Orphanet 72 C0001627 C0342474
MedGen 40 C0342474
ICD11 33 172733763
UMLS 71 C0001627 C0342474 C0701163

Summaries for Lipoid Congenital Adrenal Hyperplasia

GARD: 19 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). 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.

MalaCards based summary: Lipoid Congenital Adrenal Hyperplasia, also known as congenital adrenal hyperplasia, is related to adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency and adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency. An important gene associated with Lipoid Congenital Adrenal Hyperplasia is STAR (Steroidogenic Acute Regulatory Protein), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. The drugs Hydrocortisone succinate and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include adrenal cortex, cortex and adrenal gland, and related phenotypes are hyperpigmentation of the skin and increased circulating acth level

UniProtKB/Swiss-Prot: 73 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.

OMIM®: 57 Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996). (201710) (Updated 08-Dec-2022)

Orphanet 58 Congenital adrenal hyperplasia: A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity.

Congenital lipoid adrenal hyperplasia due to star deficency: A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.

Disease Ontology: 11 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.

Wikipedia 75 Lipoid congenital adrenal hyperplasia: Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially... more...

Adrenal hyperplasia, congenital: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by... more...

Related Diseases for Lipoid Congenital Adrenal Hyperplasia

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

(show top 50) (show all 518)
# Related Disease Score Top Affiliating Genes
1 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 33.7 LOC106799833 CYP11B1
2 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 33.5 CYP17A1-AS1 CYP17A1
3 cytochrome p450 oxidoreductase deficiency 33.0 POR HSD3B2 CYP21A2 CYP17A1 CYP11B1
4 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 32.8 STAR POR POMC NR5A1 MC2R HSD3B2
5 acth-independent macronodular adrenal hyperplasia 32.5 POMC MC2R HSD3B1 CYP11B2 CYP11B1
6 hyperandrogenism 32.1 POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
7 amenorrhea 31.7 POMC NR5A1 CYP17A1
8 acne 31.7 POMC CYP21A2 CYP17A1
9 premature ovarian failure 7 31.7 POMC NR5A1
10 conn's syndrome 31.6 STAR POR POMC NR5A1 MC2R HSD3B2
11 adrenal rest tumor 31.6 POMC MC2R HSD3B2 CYP21A2 CYP11B2 CYP11B1
12 hypokalemia 31.6 POMC CYP17A1 CYP11B2 CYP11B1
13 adrenal adenoma 31.5 POMC MC2R CYP21A2 CYP17A1 CYP11B2 CYP11B1
14 pseudohermaphroditism 31.5 STAR POR POMC NR5A1 HSD3B2 HSD3B1
15 leydig cell tumor 31.5 STAR NR5A1 CYP21A2 CYP17A1 CYP11A1
16 adenoma 31.4 POMC MC2R CYP11B2 CYP11B1
17 acute adrenal insufficiency 31.3 POMC CYP21A2 CYP11A1
18 lipid metabolism disorder 31.3 STAR POMC CYP21A2 CYP17A1 CYP11B1
19 gender incongruence 31.2 CYP21A2 CYP17A1
20 hypoaldosteronism 31.1 POMC CYP11B2
21 adrenal cortical adenoma 31.1 POMC NR5A1 MC2R CYP21A2 CYP17A1 CYP11B1
22 cryptorchidism, unilateral or bilateral 31.1 STAR POMC NR5A1 HSD3B2 HSD3B1 CYP21A2
23 antley-bixler syndrome 31.1 POR POMC CYP21A2 CYP17A1 CYP11A1
24 disorder of sexual development 31.0 STAR POR POMC NR5A1 HSD3B2 HSD3B1
25 familial glucocorticoid deficiency 31.0 STAR POMC NR5A1 MRAP MC2R HSD3B2
26 premature menopause 30.9 STAR POR POMC NR5A1 HSD3B1 CYP21A2
27 adrenal cortical carcinoma 30.9 STAR POMC NR5A1 MC2R HSD3B2 HSD3B1
28 body mass index quantitative trait locus 11 30.9 STAR POMC NR5A1 MC2R CYP21A2 CYP11A1
29 adrenal carcinoma 30.9 STAR POMC NR5A1 MC2R HSD3B2 HSD3B1
30 hypoadrenocorticism, familial 30.8 STAR POMC NR5A1 MC2R HSD3B2 CYP21A2
31 hypospadias 30.8 NR5A1 HSD3B2 CYP17A1 CYP11A1
32 pituitary-dependent cushing's disease 30.8 POMC MC2R
33 polycystic ovary syndrome 30.8 STAR POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
34 apparent mineralocorticoid excess 30.8 POMC CYP11B2 CYP11B1
35 complete androgen insensitivity syndrome 30.8 POR NR5A1 CYP17A1
36 precocious puberty, male-limited 30.7 POMC CYP21A2
37 hyperaldosteronism, familial, type i 30.7 POMC MC2R LOC106799833 CYP21A2 CYP17A1 CYP11B2
38 amelogenesis imperfecta 30.7 STAR NR5A1 HSD3B1 CYP11A1
39 ovarian disease 30.7 POMC HSD3B1 CYP17A1 CYP11A1
40 adrenal hypoplasia, congenital 30.7 STAR POMC NR5A1 MC2R HSD3B2 CYP21A2
41 hypogonadotropic hypogonadism 30.7 STAR POMC NR5A1 HSD3B2 CYP21A2 CYP17A1
42 luteoma 30.6 STAR CYP21A2
43 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 30.6 TNXB LOC110631417 LOC106780800 CYP21A2
44 adrenal gland disease 30.5 STAR POMC NR5A1 MC2R HSD3B2 HSD3B1
45 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 30.5 NR5A1 MC2R CYP11A1
46 46,xy sex reversal 30.5 STAR POR POMC NR5A1 MC2R HSD3B2
47 primary pigmented nodular adrenocortical disease 30.5 POMC MC2R CYP17A1 CYP11B2 CYP11B1
48 smith-lemli-opitz syndrome 30.5 STAR CYP17A1 CYP11A1
49 waterhouse-friderichsen syndrome 30.5 POMC MC2R
50 adrenal cortical hypofunction 30.5 STAR POMC NR5A1 MC2R CYP21A2 CYP11A1

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 30 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperpigmentation of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000953
2 increased circulating acth level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003154
3 female external genitalia in individual with 46,xy karyotype 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008730
4 vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002013
5 fever 58 30 Frequent (33%) Frequent (79-30%)
HP:0001945
6 hyponatremia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002902
7 hyperkalemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002153
8 abnormality of female external genitalia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000055
9 adrenal hyperplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008221
10 decreased circulating cortisol level 58 30 Frequent (33%) Frequent (79-30%)
HP:0008163
11 hyperactive renin-angiotensin system 58 30 Frequent (33%) Frequent (79-30%)
HP:0000841
12 abnormal circulating androgen level 58 30 Frequent (33%) Frequent (79-30%)
HP:0030347
13 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
14 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
15 avascular necrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010885
16 macroorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000053
17 hypoglycemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001943
18 jaundice 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000952
19 male pseudohermaphroditism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000037
20 encephalopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001298
21 pneumonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002090
22 breast carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003002
23 endometrial carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012114
24 neonatal sepsis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0040187
25 hypospadias 30 HP:0000047
26 abnormality of the nervous system 58 Occasional (29-5%)
27 renal salt wasting 30 HP:0000127
28 congenital adrenal hyperplasia 30 HP:0008258
29 adrenogenital syndrome 30 HP:0000840

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
G U:
hypospadias
phenotypic female

Metabolic:
salt-wasting

Endo:
adrenogenital syndrome
lipoid adrenal hyperplasia

Lab:
20, 22 desmolase deficiency

Clinical features from OMIM®:

201710 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 C4A CYP11B1 CYP21A2 HSD3B2 MC2R POMC

MGI Mouse Phenotypes related to Lipoid Congenital Adrenal Hyperplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 BTD C4A CYP11A1 CYP11B1 CYP11B2 CYP17A1
2 growth/size/body region MP:0005378 10.1 BTD C4A CYP11A1 CYP11B1 CYP11B2 CYP17A1
3 liver/biliary system MP:0005370 9.91 C4A CYP11A1 CYP11B1 CYP11B2 MRAP POMC
4 endocrine/exocrine gland MP:0005379 9.81 CYP11A1 CYP11B1 CYP11B2 MC2R MRAP NR5A1
5 cardiovascular system MP:0005385 9.7 C4A CYP11A1 CYP11B1 CYP11B2 CYP17A1 MC2R
6 mortality/aging MP:0010768 9.44 C4A CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2

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

Interventional clinical trials:

(show top 50) (show all 76)
# Name Status NCT ID Phase Drugs
1 Congenital Adrenal Hyperplasia: Innovative Once Daily Dual Release Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
2 Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency Not yet recruiting NCT04536662 Phase 4 Hydrocortisone;Prednisone;Dexamethasone
3 Comparative Study of the Use of Glucocorticoids in the Treatment of Congenital Adrenal Hyperplasia in Its Classical Form Unknown status NCT02552251 Phase 2, Phase 3
4 A Phase III Extension Study of Efficacy, Safety and Tolerability of Chronocort® in the Treatment of Congenital Adrenal Hyperplasia Completed NCT03062280 Phase 3 Hydrocortisone
5 Open-label, Long-term Follow-up of Safety and Biochemical Disease Control of Infacort® in Neonates, Infants and Children With Congenital Adrenal Hyperplasia and Adrenal Insufficiency Previously Enrolled in the Infacort 003 Study Completed NCT02733367 Phase 3 Infacort®
6 A Phase III Study of Efficacy, Safety and Tolerability of Chronocort® Compared With Standard Glucocorticoid Replacement Therapy in the Treatment of Congenital Adrenal Hyperplasia Completed NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
7 A Randomized, Double-Blind, Active-Controlled, Phase 3 Study of Chronocort Compared With Immediate-Release Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia Recruiting NCT05063994 Phase 3 Chronocort;Cortef
8 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Pediatric Subjects With Classic Congenital Adrenal Hyperplasia, Followed by Open-Label Treatment Recruiting NCT04806451 Phase 3 Crinecerfont;Placebo
9 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Adult Subjects With Classic Congenital Adrenal Hyperplasia, Followed by Open-Label Treatment Recruiting NCT04490915 Phase 3 Crinecerfont;Placebo
10 A Phase 3 Open-Label Extension Study to Evaluate the Long-term Safety and Tolerability of Chronocort in the Treatment of Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia Enrolling by invitation NCT05299554 Phase 3 Chronocort
11 An Open-label, Randomized, Titration-blinded, Phase III Study of Efficacy, Safety and Tolerability Of Chronocort® Compared With Standard Glucocorticoid REeplacement Therapy in the Treatment of Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia Withdrawn NCT03532022 Phase 3 Chronocort®;Standard Care
12 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
13 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Unknown status NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
14 A 3-Month Phase 2 Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia Completed NCT03687242 Phase 2 SPR001
15 A Phase 2, Multiple-Dose, Dose-Escalation Study to Evaluate the Safety and Efficacy of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia (CAH) Completed NCT03257462 Phase 2 SPR001
16 A Pilot Study Assessing the Use of Continuous Subcutaneous Hydrocortisone Infusion in the Treatment of Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
17 A Phase 2, Open-Label, Multiple-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adult Subjects With Congenital Adrenal Hyperplasia Completed NCT03525886 Phase 2 NBI-74788
18 A Phase 2, Multicenter Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
19 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
20 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
21 A Phase 2, Open-Label, Multiple-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Pediatric Subjects With Congenital Adrenal Hyperplasia Completed NCT04045145 Phase 2 NBI-74788
22 A Phase 2 Pilot Study to Characterize and Examine the Pharmacokinetics and Disease Bio-marker Response of Chronocort® in Adults With Congenital Adrenal Hyperplasia Completed NCT01735617 Phase 2 Hydrocortisone Modified Release Capsules
23 A Phase 2, Open Label, Crossover Pharmacokinetic and Pharmacodynamic Study to Compare Chronocort Versus Cortef in Patients With CAH Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
24 A Phase 1/2, First-in-Human, Open-Label, Dose-Escalation Study of the Safety and Efficacy of Gene Therapy for Congenital Adrenal Hyperplasia Through Administration of an Adeno-Associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human CYP21A2 Gene Recruiting NCT04783181 Phase 1, Phase 2
25 A Randomized, Double-Blind, Placebo-Controlled, Dose-Ranging Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Adult Subjects With Classic Congenital Adrenal Hyperplasia Recruiting NCT04457336 Phase 2 Tildacerfont/Placebo
26 A Phase 2 Study to Evaluate the Safety, Pharmacokinetics, and Exploratory Pharmacodynamics of SPR001 (Tildacerfont) in Children Aged 6 to 17 Years With Congenital Adrenal Hyperplasia Recruiting NCT05128942 Phase 2 Tildacerfont
27 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Reducing Supraphysiologic Glucocorticoid Use in Adult Subjects With Classic Congenital Adrenal Hyperplasia Recruiting NCT04544410 Phase 2 Tildacerfont/Placebo
28 Calcium Channel Blockade in Primary Aldosteronism Recruiting NCT04179019 Phase 2 Amlodipine
29 An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children With Congenital Adrenal Hyperplasia Active, not recruiting NCT00001521 Phase 2 Flutamide;Letrozole;Hydrocortisone;Fludrocortisone
30 A Phase 1-2 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children With Classic 21-Hydroxylase Deficiency Not yet recruiting NCT03548246 Phase 2 Abiraterone acetate;Placebo;Hydrocortisone;Fludrocortisone
31 A Multicenter Dose-Titration Open-Label Study of Nevanimibe Hydrochloride for the Treatment of Classic Congenital Adrenal Hyperplasia Terminated NCT03669549 Phase 2 Nevanimibe hydrochloride
32 A Two-part Open Label, Randomised, Single Dose, Crossover Study in Healthy Volunteers to: (Part A) Compare the Pharmacokinetics of up to 6 Chronocort® Formulations, and (Part B) Determine the Dose Proportionality of a Selected Chronocort® Formulation at Three Dose Levels With an Additional Comparison With the Selected Formulation Dosed on Two Occasions Over a 24 Hour Period Completed NCT03051893 Phase 1 Chronocort
33 An Open Label, Randomised, Single Dose, 3-period Crossover Study in Healthy Volunteers to: a) Compare the Pharmacokinetics of Chronocort® Formulations Versus Immediate Release Hydrocortisone, and (b) Determine the Dose Proportionality of Chronocort® Formulations Completed NCT03019614 Phase 1 Hydrocortisone;Chronocort
34 An Open-Label, Multiple-Dose, Dose-Finding Study of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
35 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Active, not recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
36 A Phase 1 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children With Classic 21-Hydroxylase Deficiency Active, not recruiting NCT02574910 Phase 1 Abiraterone acetate
37 A Phase 1, Open-Label, Single-Dose, Sequential Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860
38 Final Height in Patients With Congenital Adrenal Hyperplasia Unknown status NCT04293133
39 Linear Growth of Children With Congenital Adrenal Hyperplasia. Unknown status NCT04087148
40 Multicentric Evaluation of in Utero Dexamethasone (DEX) on the Cognitive Development of Children at Risk of Congenital Adrenal Hyperplasia Unknown status NCT02795871
41 Evaluation of Adrenocortical Functions by Insulin Tolerance Test and Sodium Depletion in Women With Nonclassical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Comparison With Healthy Volunteers. Unknown status NCT01862380
42 Surgical Evaluation Of Using The Inner Surface Of The Prepuce In Feminizing Genitoplasty In Cases Of Verilized Females With Congenital Adrenal Hyperplasia Unknown status NCT03897504
43 Long-Term Outcome in Offspring and Mothers of Dexamethasone-Treated Pregnancies at Risk for Classical Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency Unknown status NCT00617292
44 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
45 Dynamic Hormone Diagnostics (Ultradian) Unknown status NCT02934399
46 Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency Unknown status NCT00694525
47 Prevalence of Mutations of Glucocorticoid Receptors in Bilateral Adrenal Hyperplasia Unknown status NCT02810496
48 A Novel Therapeutic Modality for Congenital Adrenal Hyperplasia Completed NCT00529841 Hydrocortisone sodium acetate
49 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
50 Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593

Search NIH Clinical Center for 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

Genetic Tests for Lipoid Congenital Adrenal Hyperplasia

Genetic tests related to Lipoid Congenital Adrenal Hyperplasia:

# Genetic test Affiliating Genes
1 Congenital Adrenal Hyperplasia 28
2 Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 28 STAR

Anatomical Context for Lipoid Congenital Adrenal Hyperplasia

Organs/tissues related to Lipoid Congenital Adrenal Hyperplasia:

MalaCards : Adrenal Cortex, Cortex, Adrenal Gland, Breast, Bone, Skin, Ovary

Publications for Lipoid Congenital Adrenal Hyperplasia

Articles related to Lipoid Congenital Adrenal Hyperplasia:

(show top 50) (show all 5611)
# 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. 53 62 57 5
16968793 2006
2
Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. 53 62 57 5
11061515 2000
3
Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. 62 57 5
9077535 1997
4
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. 62 57 5
8948562 1996
5
T-->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. 62 57 5
8634702 1995
6
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. 62 57 5
7892608 1995
7
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. 53 62 5
20089618 2010
8
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. 53 62 5
19773404 2009
9
21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia. 53 62 5
19449670 2009
10
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q). 53 62 5
19844114 2009
11
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. 53 62 5
18252794 2008
12
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. 53 62 5
17666473 2007
13
Phenotypic features associated with mutations in steroidogenic acute regulatory protein. 53 62 5
16118340 2005
14
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein. 53 62 5
14764819 2004
15
Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia. 53 62 5
11509019 2001
16
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency. 53 62 5
11196452 2000
17
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 53 62 5
10857554 2000
18
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. 53 62 5
10599696 1999
19
Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment. 53 62 5
10486704 1999
20
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. 53 62 5
10323391 1999
21
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. 53 62 5
9097960 1997
22
Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. 53 62 57
1661294 1991
23
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing. 62 5
35714169 2022
24
Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study. 62 5
34171085 2021
25
Aldosterone signaling defect in young infants: single-center report and review. 62 5
34243750 2021
26
Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia. 62 5
33864926 2021
27
Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia. 62 5
33785438 2021
28
Genotype and clinical outcomes in children with congenital adrenal hyperplasia. 62 5
32965796 2021
29
Case of an unreported genetic variant of salt losing 3-β-hydroxysteroid dehydrogenase deficiency. 62 5
34055358 2021
30
Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations. 62 5
32358738 2021
31
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency. 62 5
32616876 2020
32
Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt. 62 5
32614782 2020
33
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency. 62 5
32289882 2020
34
Molecular analysis of the CYP21A2 gene in dried blood spot samples. 62 5
32442933 2020
35
A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report. 62 5
31666050 2019
36
Comprehensive genotyping of Turkish women with hirsutism. 62 5
30811025 2019
37
Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review. 62 5
31286101 2019
38
Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 62 5
30995443 2019
39
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency. 62 5
30719691 2019
40
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene. 62 5
29626607 2018
41
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations. 62 5
28514642 2017
42
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia. 62 5
28467518 2017
43
P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. 62 5
27068427 2017
44
Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report. 62 5
27316665 2016
45
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia. 62 5
26827627 2016
46
A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance. 62 5
26291314 2016
47
The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency. 62 5
26806323 2016
48
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. 62 5
26650942 2016
49
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient. 62 5
27047663 2016
50
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 62 5
26523528 2016

Variations for Lipoid Congenital Adrenal Hyperplasia

ClinVar genetic disease variations for Lipoid Congenital Adrenal Hyperplasia:

5 (show top 50) (show all 184)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAR NM_000349.3(STAR):c.545G>T (p.Arg182Leu) SNV Pathogenic
8988 rs104894086 GRCh37: 8:38003586-38003586
GRCh38: 8:38146068-38146068
2 STAR NM_000349.3(STAR):c.178+2dup DUP Pathogenic
8990 rs1563268785 GRCh37: 8:38006156-38006157
GRCh38: 8:38148638-38148639
3 STAR NM_000349.3(STAR):c.749G>A (p.Trp250Ter) SNV Pathogenic
8991 rs104894087 GRCh37: 8:38001900-38001900
GRCh38: 8:38144382-38144382
4 STAR NM_000349.3(STAR):c.650G>C (p.Arg217Thr) SNV Pathogenic
8992 rs137852689 GRCh37: 8:38003481-38003481
GRCh38: 8:38145963-38145963
5 STAR NM_000349.3(STAR):c.577C>T (p.Arg193Ter) SNV Pathogenic
35553 rs387907235 GRCh37: 8:38003554-38003554
GRCh38: 8:38146036-38146036
6 STAR NM_000349.3(STAR):c.125dup (p.Thr44fs) DUP Pathogenic
632520 rs750549499 GRCh37: 8:38006211-38006212
GRCh38: 8:38148693-38148694
7 STAR NM_000349.3(STAR):c.772C>T (p.Gln258Ter) SNV Pathogenic
8987 rs104894085 GRCh37: 8:38001877-38001877
GRCh38: 8:38144359-38144359
8 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter) SNV Pathogenic
1073771 GRCh37: 8:143958613-143958613
GRCh38: 8:142877197-142877197
9 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) DUP Pathogenic
1683257 GRCh37: 8:143956411-143956412
GRCh38: 8:142874995-142874996
10 CYP17A1 NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) DUP Pathogenic
1777 rs556794126 GRCh37: 10:104590547-104590548
GRCh38: 10:102830790-102830791
11 HSD3B2 NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) SNV Pathogenic
944811 rs762479018 GRCh37: 1:119964642-119964642
GRCh38: 1:119422019-119422019
12 HSD3B2 NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr) SNV Pathogenic
12191 rs80358220 GRCh37: 1:119964788-119964788
GRCh38: 1:119422165-119422165
13 HSD3B2 NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) SNV Pathogenic
12192 rs80358221 GRCh37: 1:119964900-119964900
GRCh38: 1:119422277-119422277
14 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln) SNV Pathogenic
857403 rs1447069098 GRCh37: 8:143956413-143956413
GRCh38: 8:142874997-142874997
15 STAR NM_000349.3(STAR):c.653C>T (p.Ala218Val) SNV Pathogenic
8993 rs137852690 GRCh37: 8:38002831-38002831
GRCh38: 8:38145313-38145313
16 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) SNV Pathogenic
12159 rs6445 GRCh37: 6:32008783-32008783
GRCh38: 6:32041006-32041006
17 STAR NM_000349.3(STAR):c.201_202del (p.Tyr68fs) MICROSAT Pathogenic
586680 rs1563268652 GRCh37: 8:38005822-38005823
GRCh38: 8:38148304-38148305
18 CYP17A1 NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln) SNV Pathogenic
1802 rs104894153 GRCh37: 10:104596832-104596832
GRCh38: 10:102837075-102837075
19 HSD3B2 NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) SNV Pathogenic
517183 rs767128094 GRCh37: 1:119965188-119965188
GRCh38: 1:119422565-119422565
20 HSD3B2 NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln) SNV Pathogenic
1722337 GRCh37: 1:119964789-119964789
GRCh38: 1:119422166-119422166
21 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) SNV Pathogenic
31662 rs12530380 GRCh37: 6:32007587-32007587
GRCh38: 6:32039810-32039810
22 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) SNV Pathogenic
1723345 rs12530380 GRCh37: 6:32007587-32007587
GRCh38: 6:32039810-32039810
23 STAR NM_000349.3(STAR):c.562C>T (p.Arg188Cys) SNV Pathogenic
8997 rs104894090 GRCh37: 8:38003569-38003569
GRCh38: 8:38146051-38146051
24 STAR NM_000349.3(STAR):c.64+1G>T SNV Pathogenic
550998 rs765968701 GRCh37: 8:38008272-38008272
GRCh38: 8:38150754-38150754
25 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) SNV Pathogenic
12151 rs6471 GRCh37: 6:32007887-32007887
GRCh38: 6:32040110-32040110
26 TNXB, LOC106780800, CYP21A2 NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) SNV Pathogenic
12169 rs7755898 GRCh37: 6:32008198-32008198
GRCh38: 6:32040421-32040421
27 STAR NM_000349.3(STAR):c.544C>T (p.Arg182Cys) SNV Pathogenic/Likely Pathogenic
550550 rs369232492 GRCh37: 8:38003587-38003587
GRCh38: 8:38146069-38146069
28 STAR NM_000349.3(STAR):c.545G>A (p.Arg182His) SNV Likely Pathogenic
8995 rs104894086 GRCh37: 8:38003586-38003586
GRCh38: 8:38146068-38146068
29 CYP11B1 NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) SNV Likely Pathogenic
550599 rs1489638195 GRCh37: 8:143960995-143960995
GRCh38: 8:142879579-142879579
30 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) SNV Likely Pathogenic
35982 rs61752786 GRCh37: 8:143957129-143957129
GRCh38: 8:142875713-142875713
31 STAR NM_000349.3(STAR):c.661G>A (p.Gly221Ser) SNV Likely Pathogenic
661662 rs139081695 GRCh37: 8:38002823-38002823
GRCh38: 8:38145305-38145305
32 STAR NM_000349.3(STAR):c.298_299del (p.Gln101fs) MICROSAT Likely Pathogenic
551640 rs765904696 GRCh37: 8:38005725-38005726
GRCh38: 8:38148207-38148208
33 STAR NM_000349.3(STAR):c.824T>C (p.Leu275Pro) SNV Likely Pathogenic
957675 rs762245736 GRCh37: 8:38001825-38001825
GRCh38: 8:38144307-38144307
34 STAR NM_000349.3(STAR):c.650+1G>A SNV Likely Pathogenic
1325150 GRCh37: 8:38003480-38003480
GRCh38: 8:38145962-38145962
35 CYP17A1 NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) SNV Likely Pathogenic
1794 rs104894149 GRCh37: 10:104592368-104592368
GRCh38: 10:102832611-102832611
36 STAR NM_000349.3(STAR):c.307-1G>A SNV Likely Pathogenic
1066647 GRCh37: 8:38003966-38003966
GRCh38: 8:38146448-38146448
37 STAR NM_000349.3(STAR):c.745-1G>C SNV Likely Pathogenic
448534 rs374297649 GRCh37: 8:38001905-38001905
GRCh38: 8:38144387-38144387
38 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys) SNV Likely Pathogenic
1675320 GRCh37: 6:32008342-32008342
GRCh38: 6:32040565-32040565
39 CYP17A1 NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup) DUP Likely Pathogenic
1677065 GRCh37: 10:104595110-104595111
GRCh38: 10:102835353-102835354
40 CYP17A1 NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile) SNV Likely Pathogenic
1677197 GRCh37: 10:104597116-104597116
GRCh38: 10:102837359-102837359
41 LOC106799833, CYP11B1 NM_000497.4(CYP11B1):c.726del (p.Ser243fs) DEL Likely Pathogenic
1072465 GRCh37: 8:143958171-143958171
GRCh38: 8:142876755-142876755
42 LOC106780800, CYP21A2 NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) SNV Likely Pathogenic
242761 rs1554299737 GRCh37: 6:32007584-32007584
GRCh38: 6:32039807-32039807
43 STAR NM_000349.3(STAR):c.503dup (p.His168fs) DUP Likely Pathogenic
1724129 GRCh37: 8:38003627-38003628
GRCh38: 8:38146109-38146110
44 STAR NM_000349.3(STAR):c.229del (p.Gln77fs) DEL Likely Pathogenic
1724262 GRCh37: 8:38005795-38005795
GRCh38: 8:38148277-38148277
45 STAR NM_000349.3(STAR):c.271_272del (p.Ser91fs) DEL Likely Pathogenic
1726250 GRCh37: 8:38005752-38005753
GRCh38: 8:38148234-38148235
46 STAR NM_000349.3(STAR):c.203del (p.Tyr68fs) DEL Likely Pathogenic
1726348 GRCh37: 8:38005821-38005821
GRCh38: 8:38148303-38148303
47 STAR NM_000349.3(STAR):c.436G>T (p.Glu146Ter) SNV Likely Pathogenic
1725060 GRCh37: 8:38003836-38003836
GRCh38: 8:38146318-38146318
48 STAR NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs) INSERT Likely Pathogenic
1726926 GRCh37: 8:38003627-38003628
GRCh38: 8:38146109-38146110
49 POR NM_001395413.1(POR):c.821+1G>A SNV Likely Pathogenic
1723238 GRCh37: 7:75611641-75611641
GRCh38: 7:75982323-75982323
50 HSD3B2 NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer) DEL Likely Pathogenic
1722338 GRCh37: 1:119964972-119964972
GRCh38: 1:119422349-119422349

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 rs1254559989
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 rs1446362214
7 STAR p.Leu275Pro VAR_014242 rs762245736

Copy number variations for Lipoid Congenital Adrenal Hyperplasia from CNVD:

6
# 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 GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 STAR POR POMC HSD3B2 HSD3B1 CYP21A2
2
Show member pathways
12.86 POR POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
3
Show member pathways
12.65 POMC MC2R CYP21A2 CYP17A1 CYP11B2 CYP11B1
4
Show member pathways
12.62 POR POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
5
Show member pathways
12.54 STAR POMC HSD3B2 HSD3B1 CYP21A2 CYP17A1
6 11.76 STAR POMC HSD3B2 HSD3B1 CYP21A2 CYP11B1
7
Show member pathways
11.49 CYP11B1 CYP17A1 HSD3B1 HSD3B2
8 11.3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
9 11.27 STAR HSD3B1 CYP11A1
10
Show member pathways
11.26 STAR POMC HSD3B2 HSD3B1 CYP21A2 CYP17A1
11 10.6 STAR POR HSD3B2 CYP17A1 CYP11A1
12
Show member pathways
10.26 POR HSD3B2 HSD3B1 CYP11B2 CYP11A1

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 smooth endoplasmic reticulum membrane GO:0030868 8.92 HSD3B2 HSD3B1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 10.11 CYP11A1 CYP11B1 CYP11B2 STAR
2 lipid metabolic process GO:0006629 10.06 TNXB HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2
3 sterol metabolic process GO:0016125 9.97 CYP21A2 CYP11B2 CYP11B1 CYP11A1
4 androgen biosynthetic process GO:0006702 9.95 HSD3B2 HSD3B1 CYP17A1
5 C21-steroid hormone biosynthetic process GO:0006700 9.88 CYP11A1 CYP11B1 CYP11B2
6 response to corticosterone GO:0051412 9.87 HSD3B2 HSD3B1
7 cellular response to potassium ion GO:0035865 9.86 CYP11B2 CYP11B1
8 cellular response to peptide hormone stimulus GO:0071375 9.86 POR CYP11B2 CYP11B1 CYP11A1
9 regulation of steroid biosynthetic process GO:0050810 9.85 STAR NR5A1
10 cortisol biosynthetic process GO:0034651 9.84 CYP11B2 CYP11B1
11 aldosterone biosynthetic process GO:0032342 9.83 CYP11B2 CYP11B1
12 C21-steroid hormone metabolic process GO:0008207 9.83 HSD3B2 HSD3B1 CYP11A1
13 mineralocorticoid biosynthetic process GO:0006705 9.8 CYP21A2 CYP11B2
14 cortisol metabolic process GO:0034650 9.8 CYP11B2 CYP11B1 CYP11A1
15 steroid metabolic process GO:0008202 9.76 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
16 glucocorticoid biosynthetic process GO:0006704 9.65 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
17 steroid biosynthetic process GO:0006694 9.44 STAR HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 10.02 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
2 iron ion binding GO:0005506 9.96 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
3 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.83 HSD3B2 HSD3B1
4 type 1 melanocortin receptor binding GO:0070996 9.81 POMC MRAP
5 type 4 melanocortin receptor binding GO:0031782 9.8 POMC MRAP
6 type 3 melanocortin receptor binding GO:0031781 9.78 POMC MRAP
7 steroid delta-isomerase activity GO:0004769 9.76 HSD3B2 HSD3B1
8 cholesterol dehydrogenase activity GO:0102294 9.73 HSD3B2 HSD3B1
9 corticosterone 18-monooxygenase activity GO:0047783 9.71 CYP11B2 CYP11B1
10 steroid 11-beta-monooxygenase activity GO:0004507 9.67 CYP11B2 CYP11B1
11 oxidoreductase activity GO:0016491 9.61 POR HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2
12 monooxygenase activity GO:0004497 9.55 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
13 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.02 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1

Sources for Lipoid Congenital Adrenal Hyperplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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