AH1
MCID: LPD011
MIFTS: 55

Lipoid Adrenal Hyperplasia (AH1) malady

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

Aliases & Classifications for Lipoid Adrenal Hyperplasia

Aliases & Descriptions for Lipoid Adrenal Hyperplasia:

Name: Lipoid Adrenal Hyperplasia 54 13
Lipoid Congenital Adrenal Hyperplasia 54 52 69
Congenital Lipoid Hyperplasia of Adrenal Cortex with Male Pseudohermaphroditism 66
Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 56
Congenital Lipoid Adrenal Hyperplasia 66
Adrenal Hyperplasia, Congenital 42
Adrenal Hyperplasia 1 66
Lipoid Cah 66
Clah 56
Ah1 66

Characteristics:

Orphanet epidemiological data:

56
congenital lipoid adrenal hyperplasia due to star deficency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
lipoid adrenal hyperplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 201710
Orphanet 56 ORPHA90790
MESH via Orphanet 43 C537027
UMLS via Orphanet 70 C0342474
ICD10 via Orphanet 34 E25.0
MedGen 40 C0342474
MeSH 42 D000312

Summaries for Lipoid Adrenal Hyperplasia

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Lipoid Adrenal Hyperplasia, also known as lipoid congenital adrenal hyperplasia, is related to classic congenital lipoid adrenal hyperplasia due to star deficency and non-classic congenital lipoid adrenal hyperplasia due to star deficency, and has symptoms including renal salt wasting, adrenogenital syndrome and congenital adrenal hyperplasia. An important gene associated with Lipoid Adrenal Hyperplasia is STAR (Steroidogenic Acute Regulatory Protein), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. The drugs Cosyntropin and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include cortex, adrenal cortex and bone, and related phenotypes are endocrine/exocrine gland and liver/biliary system

OMIM : 54 Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect... (201710) more...

Related Diseases for Lipoid Adrenal Hyperplasia

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

(show top 50) (show all 57)
id Related Disease Score Top Affiliating Genes
1 classic congenital lipoid adrenal hyperplasia due to star deficency 12.1
2 non-classic congenital lipoid adrenal hyperplasia due to star deficency 12.1
3 acth-independent macronodular adrenal hyperplasia 11.6
4 congenital adrenal hyperplasia 11.3
5 adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete 11.3
6 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 11.1
7 cleft lip palate-tetraphocomelia 10.3 CYP21A2 POMC
8 papillorenal syndrome 10.2 CYP17A1 POR
9 cytomegalovirus retinitis 10.2 NR5A1 STAR
10 spastic ataxia 3 10.2 CYP11B1 CYP11B2
11 distal monosomy 14q 10.2 CYP11A1 CYP21A2 POMC
12 hypogonadism mitral valve prolapse mental retardation 10.2 CYP11B2 POMC
13 hypoaldosteronism, congenital, due to cmo i deficiency 10.2 CYP11B1 CYP11B2 POMC
14 deafness, autosomal recessive 29 10.2 CYP11A1 CYP17A1 CYP21A2
15 posterior uveal melanoma 10.2 CYP11B1 CYP21A2 POMC
16 tick-borne encephalitis 10.2 CYP11A1 CYP17A1 CYP21A2
17 cervical spinal canal and spinal cord meningioma 10.2 CYP21A2 STAR
18 merkel cell carcinoma 10.2 CYP11B1 CYP11B2 POMC
19 bent bone dysplasia syndrome 10.2 CYP17A1 CYP21A2 POR
20 immune system organ benign neoplasm 10.2 CYP11B1 CYP11B2 POMC
21 sphingolipidosis 10.2 CYP17A1 CYP21A2 POMC
22 endocrine organ benign neoplasm 10.2 CYP11B1 CYP11B2 POMC
23 epidemic typhus 10.2 CYP17A1 CYP21A2 POR
24 duchenne muscular dystrophy 10.1 NR5A1 STAR
25 malignant otitis externa 10.1 CYP11A1 CYP21A2 NR5A1 POMC
26 farmer's lung 10.1 CYP11A1 CYP17A1 NR5A1 STAR
27 liver sarcoma 10.1 CYP11A1 CYP17A1 CYP21A2 STAR
28 esophagus squamous cell papilloma 10.1 CYP11A1 CYP11B1 CYP11B2 POMC
29 benign essential hypertension 10.1 CYP17A1 HSD3B2 NR5A1
30 dyt1 early-onset isolated dystonia 10.1 CYP17A1 CYP21A2 POMC POR
31 pelvic muscle wasting 10.1 CYP17A1 CYP21A2 HSD3B2 POMC
32 primary biliary cirrhosis 10.1 CYP11A1 CYP17A1 CYP21A2 HSD3B2
33 clear cell adenocarcinoma 10.1 CYP11B1 CYP11B2 CYP17A1 POMC
34 marfan syndrome 10.0 CGB5 POMC
35 antisynthetase syndrome 10.0 CGB5 NR5A1
36 hypermobility syndrome 10.0 CYP11A1 CYP17A1 CYP21A2 POMC STAR
37 borderline personality disorder 10.0 CYP17A1 CYP21A2
38 cardiomyopathy, dilated, 1v 10.0 CYP11A1 CYP11B1 CYP11B2 CYP17A1 NR5A1
39 ovarian cyst 10.0
40 ameloblastoma 9.9 CYP11A1 CYP11B1 CYP17A1 CYP21A2 NR5A1 POMC
41 epithelial predominant pulmonary blastoma 9.9 CYP11A1 CYP17A1 CYP21A2 HSD3B1 POMC STAR
42 benign peritoneal mesothelioma 9.9 CYP11B1 CYP11B2 CYP21A2 HSD3B1 NR5A1 POMC
43 panuveitis 9.9 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
44 childhood optic tract astrocytoma 9.9 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
45 loeffler endocarditis 9.9 CYP11A1 CYP11B1 CYP17A1 CYP21A2 NR5A1 POMC
46 malignant teratocarcinosarcoma 9.8 ALPPL2 CGB5
47 ovarian mucinous cystadenocarcinoma 9.8 ALPPL2 CGB5 CYP11A1
48 glioma susceptibility 1 9.8 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 NR5A1
49 hepatitis c virus 9.8
50 hepatitis 9.8

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



Diseases related to Lipoid Adrenal Hyperplasia

Symptoms & Phenotypes for Lipoid Adrenal Hyperplasia

Symptoms by clinical synopsis from OMIM:

201710

Clinical features from OMIM:

201710

Human phenotypes related to Lipoid Adrenal Hyperplasia:

56 32 (show top 50) (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal salt wasting 56 32 Very frequent (99-80%) HP:0000127
2 adrenogenital syndrome 56 32 Very frequent (99-80%) HP:0000840
3 congenital adrenal hyperplasia 56 32 Very frequent (99-80%) HP:0008258
4 vomiting 56 Very frequent (99-80%)
5 failure to thrive 56 Very frequent (99-80%)
6 hypotension 56 Very frequent (99-80%)
7 delayed skeletal maturation 56 Very frequent (99-80%)
8 short stature 56 Very frequent (99-80%)
9 delayed puberty 56 Very frequent (99-80%)
10 dehydration 56 Very frequent (99-80%)
11 osteoporosis 56 Very frequent (99-80%)
12 feeding difficulties 56 Very frequent (99-80%)
13 reduced bone mineral density 56 Very frequent (99-80%)
14 cryptorchidism 56 Very frequent (99-80%)
15 primary adrenal insufficiency 56 Very frequent (99-80%)
16 hypospadias 32 HP:0000047
17 absence of secondary sex characteristics 56 Very frequent (99-80%)
18 decreased testicular size 56 Very frequent (99-80%)
19 decreased fertility 56 Very frequent (99-80%)
20 hyponatremia 56 Very frequent (99-80%)
21 hypercholesterolemia 56 Very frequent (99-80%)
22 adrenocortical adenoma 56 Very frequent (99-80%)
23 abnormality of the menstrual cycle 56 Very frequent (99-80%)
24 gynecomastia 56 Very frequent (99-80%)
25 male pseudohermaphroditism 56 Very frequent (99-80%)
26 abnormality of the vagina 56 Very frequent (99-80%)
27 generalized hyperpigmentation 56 Very frequent (99-80%)
28 abnormal spermatogenesis 56 Very frequent (99-80%)
29 ambiguous genitalia, male 56 Very frequent (99-80%)
30 urogenital sinus anomaly 56 Very frequent (99-80%)
31 increased circulating renin level 56 Very frequent (99-80%)
32 abnormality of prenatal development or birth 56 Very frequent (99-80%)
33 acidosis 56 Very frequent (99-80%)
34 neonatal hypoglycemia 56 Very frequent (99-80%)
35 hyperkalemia 56 Very frequent (99-80%)
36 decreased circulating aldosterone level 56 Very frequent (99-80%)
37 abnormality of cholesterol metabolism 56 Very frequent (99-80%)
38 increased circulating acth level 56 Very frequent (99-80%)
39 hypernatriuria 56 Very frequent (99-80%)
40 decreased circulating cortisol level 56 Very frequent (99-80%)
41 elevated follicle stimulating hormone 56 Very frequent (99-80%)
42 female external genitalia in individual with 46,xy karyotype 56 Very frequent (99-80%)
43 hypovolemia 56 Very frequent (99-80%)
44 adrenocorticotropic hormone excess 56 Very frequent (99-80%)
45 elevated luteinizing hormone 56 Very frequent (99-80%)
46 abnormal sex determination 56 Very frequent (99-80%)
47 sex reversal 56 Very frequent (99-80%)
48 abnormal urine potassium concentration 56 Very frequent (99-80%)
49 decreased circulating androgen level 56 Very frequent (99-80%)
50 decreased fertility in females 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Lipoid Adrenal Hyperplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.76 CYP11A1 CYP11B1 CYP11B2 NR5A1 POMC POR
2 liver/biliary system MP:0005370 9.43 CYP11A1 CYP11B2 POMC POR SCP2 TSPO
3 reproductive system MP:0005389 9.23 ALPPL2 CYP11A1 CYP11B2 CYP17A1 NR5A1 POR

Drugs & Therapeutics for Lipoid Adrenal Hyperplasia

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

(show top 50) (show all 177)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cosyntropin Approved Phase 4 16960-16-0 16129617
2
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 51-43-4 5816
3
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-23-7 5754 657311
4
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
5
Drospirenone Approved Phase 4 67392-87-4 68873
6
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2 50-28-2 5757 53477783
7
Ethinyl Estradiol Approved Phase 4,Phase 2 57-63-6 5991
8
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
10
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
11 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Cortisol succinate Phase 4,Phase 3,Phase 2,Phase 1
13 Epinephryl borate Phase 4,Phase 3,Phase 2,Phase 1
14 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
15 Hormones Phase 4,Phase 3,Phase 2,Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
17 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 3,Phase 2,Phase 1
18 Hydrocortisone acetate Phase 4,Phase 3,Phase 2,Phase 1
19 Racepinephrine Phase 4,Phase 3,Phase 2,Phase 1
20 Androgen Antagonists Phase 4,Phase 2,Phase 1
21 Androgens Phase 4,Phase 3,Phase 2,Phase 1
22 Antioxidants Phase 4
23 Contraceptive Agents Phase 4,Phase 2
24 Contraceptive Agents, Male Phase 4
25 Contraceptives, Oral Phase 4,Phase 2
26 Contraceptives, Oral, Combined Phase 4,Phase 2
27
Cyproterone Phase 4 2098-66-0 5284537
28 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
29 diuretics Phase 4
30 Diuretics, Potassium Sparing Phase 4
31 Drospirenone and ethinyl estradiol combination Phase 4
32 Estradiol 17 beta-cypionate Phase 4,Phase 2
33 Estradiol 3-benzoate Phase 4,Phase 2
34 Estradiol valerate Phase 4,Phase 2 979-32-8
35 Estrogens Phase 4,Phase 3,Phase 2
36 Hemostatics Phase 4
37 Mineralocorticoid Receptor Antagonists Phase 4,Phase 3
38 Mineralocorticoids Phase 4,Phase 3,Phase 2
39 Natriuretic Agents Phase 4
40 Polyestradiol phosphate Phase 4,Phase 2
41 Protective Agents Phase 4
42 Calcium, Dietary Phase 4,Phase 3,Phase 1,Phase 2
43 Hematinics Phase 4
44 Micronutrients Phase 4
45 Trace Elements Phase 4
46 Vitamin B Complex Phase 4
47 Vitamins Phase 4
48 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
49 Folate Nutraceutical Phase 4
50 Vitamin B9 Nutraceutical Phase 4

Interventional clinical trials:

(show top 50) (show all 92)
id Name Status NCT ID Phase
1 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Unknown status NCT00851942 Phase 4
2 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4
3 Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation Unknown status NCT01103518 Phase 4
4 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4
5 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4
6 SPARTACUS: Subtyping Primary Aldosteronism: a Randomized Trial Comparing Adrenal Vein Sampling and Computed Tomography Scan. Completed NCT01096654 Phase 3
7 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3
8 The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or Anovulatory Women Completed NCT00413179 Phase 3
9 COrticosteroid in Congenital Adrenal Hyperplasia Recruiting NCT02552251 Phase 2, Phase 3
10 Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia Recruiting NCT02716818 Phase 3
11 A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH Recruiting NCT03062280 Phase 3
12 Extension Study for Patients Entered Into Study Infacort 003 Recruiting NCT02733367 Phase 3
13 Dynamic Hormone Diagnostics in Endocrine Disease Not yet recruiting NCT02934399 Phase 2, Phase 3
14 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2
15 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2
16 Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH Completed NCT01735617 Phase 2
17 Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia Completed NCT00519818 Phase 1, Phase 2
18 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2
19 Phase II Randomized Study of Leuprolide Vs Oral Contraceptive Therapy Vs Leuprolide and Oral Contraceptive Therapy for Ovarian Hyperandrogenism Completed NCT00004763 Phase 2
20 Treatment of Hyperandrogenism Versus Insulin Resistance in Infertile Polycystic Ovary Syndrome (PCOS) Women Completed NCT00704912 Phase 2
21 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Recruiting NCT01771328 Phase 2
22 A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Recruiting NCT02804178 Phase 2
23 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Recruiting NCT02096510 Phase 1, Phase 2
24 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting NCT02468193 Phase 2
25 Acupuncture or Metformin for Insulin Resistance in Women With PCOS Recruiting NCT02647827 Phase 2
26 Androgen Excess as a Mechanism for Adipogenic Dysfunction in PCOS Women Recruiting NCT01889199 Phase 2
27 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Recruiting NCT02600286 Phase 2
28 Metformine and CC Compared With Placebo and CC for Induction Ovulation in PCOS Patients With Insulin Resistant Enrolling by invitation NCT02523898 Phase 2
29 A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1
30 Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia Completed NCT00001521 Phase 1
31 An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone Completed NCT03019614 Phase 1
32 A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations Completed NCT03051893 Phase 1
33 Time Course of Waking Versus Sleep-associated Luteinizing Hormone (LH) Pulse Frequency Suppression in Response to Progesterone in Late Pubertal Girls With and Without Hyperandrogenemia Recruiting NCT00929006 Phase 1
34 Suppression of Daytime and Nighttime Luteinizing Hormone Frequency by Progesterone Recruiting NCT01428089 Phase 1
35 Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1 Not yet recruiting NCT02574910 Phase 1
36 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1
37 Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia Unknown status NCT00694525
38 Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers Unknown status NCT00617292
39 Tweens to Teens Project at Penn State Unknown status NCT01184651
40 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
41 Meal Timing on Glucose and Hyperandrogenism in PCOS Women Unknown status NCT01711476
42 Meal Timing on Glucose Metabolism and Hyperandrogenism in Lean Women With Polycystic Ovary Syndrome Unknown status NCT01569425
43 Whole Genome Analysis for the Detection of Key Genes in the Polycystic Ovary Syndrome Unknown status NCT00665171
44 Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia Completed NCT00529841
45 Growth Hormone (GH) in Congenital Adrenal Hyperplasia Completed NCT03162172
46 Examining Genetic Differences Among People With 21-Hydroxylase Deficiency Completed NCT00542841
47 Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
48 Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia Completed NCT01807364
49 Qualitative Research on Women With Congenital Adrenal Hyperplasia Completed NCT00559078
50 Effects of Pioglitazone in Congenital Adrenal Hyperplasia Completed NCT00151710

Search NIH Clinical Center for Lipoid Adrenal Hyperplasia

Cochrane evidence based reviews: adrenal hyperplasia, congenital

Genetic Tests for Lipoid Adrenal Hyperplasia

Anatomical Context for Lipoid Adrenal Hyperplasia

MalaCards organs/tissues related to Lipoid Adrenal Hyperplasia:

39
Cortex, Adrenal Cortex, Bone, Adrenal Gland, Testes

Publications for Lipoid Adrenal Hyperplasia

Articles related to Lipoid Adrenal Hyperplasia:

(show top 50) (show all 73)
id Title Authors Year
1
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia. ( 28467518 )
2017
2
Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia. ( 27190208 )
2016
3
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia. ( 26827627 )
2016
4
Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report. ( 27698074 )
2016
5
[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia]. ( 26014698 )
2015
6
Congenital lipoid adrenal hyperplasia. ( 25654062 )
2014
7
Phenotypic variability in congenital lipoid adrenal hyperplasia. ( 24953586 )
2014
8
p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia. ( 24904850 )
2013
9
Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia. ( 23175692 )
2013
10
A case of congenital lipoid adrenal hyperplasia. ( 22891154 )
2012
11
Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene. ( 22083155 )
2012
12
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. ( 21159840 )
2011
13
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. ( 21846663 )
2011
14
Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. ( 21647419 )
2011
15
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia. ( 21057961 )
2011
16
Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by molecular genetic testing in Korean siblings. ( 22028173 )
2011
17
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene. ( 20080861 )
2010
18
Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing. ( 18058976 )
2008
19
A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia. ( 24790358 )
2008
20
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. ( 17666473 )
2007
21
Imaging of congenital lipoid adrenal hyperplasia. ( 16875310 )
2006
22
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. ( 16968793 )
2006
23
Ovarian insufficiency in congenital lipoid adrenal hyperplasia begins in infancy. ( 16607929 )
2006
24
A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. ( 15546900 )
2005
25
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. ( 15985476 )
2005
26
[Molecular genetic analysis of congenital lipoid adrenal hyperplasia]. ( 15347444 )
2004
27
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein. ( 14764819 )
2004
28
Family of two patients with congenital lipoid adrenal hyperplasia due to StAR mutation. ( 15666846 )
2004
29
[Congenital lipoid adrenal hyperplasia]. ( 14968544 )
2004
30
Adrenal and ovarian hormonogenesis in a teenage girl with congenital lipoid adrenal hyperplasia (CLAH). ( 15506684 )
2004
31
Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita. ( 12943739 )
2003
32
Congenital lipoid adrenal hyperplasia caused by a frame-shift mutation in the steroidogenic acute regulatory protein gene. ( 17003020 )
2003
33
Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. ( 11061515 )
2000
34
Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty. ( 11200945 )
2000
35
Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia. ( 10700722 )
2000
36
Congenital lipoid adrenal hyperplasia. ( 10460667 )
1999
37
A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. ( 10566637 )
1999
38
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. ( 10323391 )
1999
39
A patient with congenital lipoid adrenal hyperplasia evaluated by serial abdominal ultrasonography. ( 9686812 )
1998
40
Incorrect folding of steroidogenic acute regulatory protein (StAR) in congenital lipoid adrenal hyperplasia. ( 9657690 )
1998
41
Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia. ( 9829224 )
1998
42
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. ( 9452116 )
1998
43
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online. ( 10215405 )
1998
44
Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein. ( 9460644 )
1997
45
Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia. ( 9279522 )
1997
46
New developments in congenital lipoid adrenal hyperplasia and steroidogenic acute regulatory protein. ( 9130927 )
1997
47
Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study. ( 9050951 )
1997
48
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. ( 9097960 )
1997
49
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. ( 9077535 )
1997
50
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. ( 9141542 )
1997

Variations for Lipoid Adrenal Hyperplasia

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

66
id Symbol AA change Variation ID SNP ID
1 STAR p.Arg182Leu VAR_005627 rs104894086
2 STAR p.Glu169Gly VAR_014236
3 STAR p.Glu169Lys VAR_014237 rs747169620
4 STAR p.Arg217Thr VAR_014238 rs28938471
5 STAR p.Ala218Val VAR_014239 rs137852690
6 STAR p.Met225Thr VAR_014240
7 STAR p.Leu275Pro VAR_014242 rs762245736

ClinVar genetic disease variations for Lipoid Adrenal Hyperplasia:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B1 NM_000497.3(CYP11B1): c.124C> T (p.Pro42Ser) single nucleotide variant Pathogenic rs104894069 GRCh37 Chromosome 8, 143961106: 143961106
2 CYP11B1 NM_000497.3(CYP11B1): c.281C> T (p.Pro94Leu) single nucleotide variant Pathogenic rs104894070 GRCh37 Chromosome 8, 143960562: 143960562
3 CYP17A1 NM_000102.3(CYP17A1): c.1435_1438dupATCC (p.Pro480Hisfs) duplication Pathogenic/Likely pathogenic rs556794126 GRCh38 Chromosome 10, 102830791: 102830794
4 STAR STAR, IVS4AS, T-A, -11 single nucleotide variant Pathogenic
5 STAR NM_000349.2(STAR): c.772C> T (p.Gln258Ter) single nucleotide variant Pathogenic rs104894085 GRCh37 Chromosome 8, 38001877: 38001877
6 STAR NM_000349.2(STAR): c.545G> T (p.Arg182Leu) single nucleotide variant Pathogenic rs104894086 GRCh37 Chromosome 8, 38003586: 38003586
7 STAR STAR, 1-BP DEL, 261T deletion Pathogenic
8 STAR STAR, IVS2, 1-BP INS, T, +3 insertion Pathogenic
9 STAR NM_000349.2(STAR): c.749G> A (p.Trp250Ter) single nucleotide variant Pathogenic rs104894087 GRCh37 Chromosome 8, 38001900: 38001900
10 STAR NM_000349.2(STAR): c.650G> C (p.Arg217Thr) single nucleotide variant Pathogenic rs137852689 GRCh37 Chromosome 8, 38003481: 38003481
11 STAR NM_000349.2(STAR): c.653C> T (p.Ala218Val) single nucleotide variant Pathogenic rs137852690 GRCh37 Chromosome 8, 38002831: 38002831
12 STAR STAR, IVS1, G-T, +1 single nucleotide variant Pathogenic
13 STAR NM_000349.2(STAR): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs104894086 GRCh37 Chromosome 8, 38003586: 38003586
14 STAR NM_000349.2(STAR): c.559G> A (p.Val187Met) single nucleotide variant Pathogenic rs104894089 GRCh37 Chromosome 8, 38003572: 38003572
15 STAR NM_000349.2(STAR): c.562C> T (p.Arg188Cys) single nucleotide variant Pathogenic rs104894090 GRCh37 Chromosome 8, 38003569: 38003569
16 STAR STAR, 2-BP DEL, 201CT deletion Pathogenic
17 STAR NM_000349.2(STAR): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs387907235 GRCh37 Chromosome 8, 38003554: 38003554
18 STAR NM_000349.2(STAR): c.135delT (p.Ser46Alafs) deletion Likely pathogenic rs193922393 GRCh37 Chromosome 8, 38006202: 38006202
19 STAR NM_000349.2(STAR): c.629_630delCT (p.Pro210Argfs) deletion Likely pathogenic rs771895449 GRCh38 Chromosome 8, 38145983: 38145984

Expression for Lipoid Adrenal Hyperplasia

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

Pathways for Lipoid Adrenal Hyperplasia

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 ALPPL2 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
2
Show member pathways
13.03 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 FDX1
3
Show member pathways
12.28 CYP11A1 CYP11B2 CYP21A2 HSD3B1 HSD3B2 STAR
4
Show member pathways
11.76 CYP11A1 FDX1 FDXR POMC
5 11.67 CYP11A1 CYP11B1 CYP21A2 HSD3B1 HSD3B2 POMC
6
Show member pathways
11.49 CYP11B1 CYP17A1 HSD3B1 HSD3B2
7 11.35 CYP11A1 CYP17A1 HSD3B1 HSD3B2 STAR
8
Show member pathways
11.31 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
9
Show member pathways
11.31 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 FDX1
10
Show member pathways
10.94 CYP11B1 CYP11B2 CYP17A1 CYP21A2
11
Show member pathways
10.66 SCP2 TSPO
12 10.45 FDX1 FDXR

GO Terms for Lipoid Adrenal Hyperplasia

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.72 CYP11B1 CYP11B2 FDXR HSD3B1 HSD3B2
2 mitochondrial intermembrane space GO:0005758 9.43 HSD3B1 HSD3B2 STAR
3 mitochondrial membrane GO:0031966 9.43 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2 TSPO
4 mitochondrion GO:0005739 9.4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 FDX1 FDXR
5 smooth endoplasmic reticulum membrane GO:0030868 9.16 HSD3B1 HSD3B2

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.95 CYP11A1 CYP11B1 CYP11B2 FDX1 FDXR
2 steroid biosynthetic process GO:0006694 9.93 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 FDX1
3 steroid metabolic process GO:0008202 9.86 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 FDX1
4 cholesterol metabolic process GO:0008203 9.78 CYP11A1 FDX1 FDXR STAR
5 lipid transport GO:0006869 9.77 SCP2 STAR TSPO
6 glucocorticoid biosynthetic process GO:0006704 9.72 CYP11B1 CYP17A1 CYP21A2 HSD3B1 HSD3B2
7 mineralocorticoid biosynthetic process GO:0006705 9.67 CYP11B2 CYP21A2 HSD3B1 HSD3B2
8 androgen biosynthetic process GO:0006702 9.63 CYP17A1 HSD3B1 HSD3B2
9 bile acid biosynthetic process GO:0006699 9.61 SCP2 STAR
10 cholesterol transport GO:0030301 9.61 STAR TSPO
11 regulation of steroid biosynthetic process GO:0050810 9.61 NR5A1 STAR TSPO
12 peptide hormone processing GO:0016486 9.59 CGB5 POMC
13 adrenal gland development GO:0030325 9.58 NR5A1 TSPO
14 hormone biosynthetic process GO:0042446 9.58 CYP17A1 FDX1
15 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.57 POR STAR
16 estrogen biosynthetic process GO:0006703 9.56 HSD3B1 STAR
17 cellular response to potassium ion GO:0035865 9.54 CYP11B1 CYP11B2
18 cellular response to gonadotropin stimulus GO:0071371 9.52 POR STAR
19 aldosterone biosynthetic process GO:0032342 9.51 CYP11B1 CYP11B2
20 sterol metabolic process GO:0016125 9.5 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 FDX1
21 cortisol biosynthetic process GO:0034651 9.49 CYP11B1 CYP11B2
22 C21-steroid hormone biosynthetic process GO:0006700 9.17 CYP11A1 CYP11B1 CYP11B2 FDX1 FDXR STAR
23 oxidation-reduction process GO:0055114 10.1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 FDX1

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.8 CYP21A2 NR5A1 SCP2 STAR
2 heme binding GO:0020037 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 cholesterol binding GO:0015485 9.61 SCP2 STAR TSPO
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.55 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
5 cholesterol transporter activity GO:0017127 9.51 STAR TSPO
6 steroid hydroxylase activity GO:0008395 9.48 CYP11B2 CYP21A2
7 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.46 HSD3B1 HSD3B2
8 iron ion binding GO:0005506 9.43 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 FDX1
9 steroid delta-isomerase activity GO:0004769 9.4 HSD3B1 HSD3B2
10 corticosterone 18-monooxygenase activity GO:0047783 9.37 CYP11B1 CYP11B2
11 steroid 11-beta-monooxygenase activity GO:0004507 9.32 CYP11B1 CYP11B2
12 oxidoreductase activity GO:0016491 9.28 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 FDXR

Sources for Lipoid Adrenal Hyperplasia

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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70 UMLS via Orphanet
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