AH1
MCID: LPD012
MIFTS: 71

Lipoid Congenital Adrenal Hyperplasia (AH1)

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

Aliases & Classifications for Lipoid Congenital Adrenal Hyperplasia

MalaCards integrated aliases for Lipoid Congenital Adrenal Hyperplasia:

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

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lipoid congenital adrenal hyperplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lipoid Congenital Adrenal Hyperplasia

NIH Rare Diseases : 53 Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. Treatment for CAH varies but may include medication and/or surgery.

MalaCards based summary : Lipoid Congenital Adrenal Hyperplasia, also known as congenital adrenal hyperplasia, is related to classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 3-beta-hydroxysteroid dehydrogenase deficiency. An important gene associated with Lipoid Congenital Adrenal Hyperplasia is STAR (Steroidogenic Acute Regulatory Protein), and among its related pathways/superpathways are Steroid hormone biosynthesis and Metabolism. Affiliated tissues include adrenal gland, cortex and adrenal cortex, and related phenotypes are failure to thrive and hypotension

Disease Ontology : 12 A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.

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

UniProtKB/Swiss-Prot : 75 Adrenal hyperplasia 1: The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted.

Wikipedia : 76 Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from... more...

Related Diseases for Lipoid Congenital Adrenal Hyperplasia

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

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 34.3 CYP21A2 POMC
2 3-beta-hydroxysteroid dehydrogenase deficiency 33.2 CYP21A2 HSD3B2 HSD3BP4
3 cytochrome p450 oxidoreductase deficiency 32.8 CYP17A1 CYP21A2 POMC POR
4 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 32.2 C4A CYP11A1 CYP17A1 CYP21A2 POMC STAR
5 acute adrenal insufficiency 31.8 CYP11A1 CYP21A2 POMC REN
6 pseudohermaphroditism 30.2 CYP17A1 CYP19A1 HSD3B2 NR5A1 SRY
7 adrenal rest tumor 30.2 CYP11B1 CYP11B2 CYP21A2 HSD3B1 HSD3B2 MC2R
8 leydig cell tumor 30.1 CYP11A1 CYP17A1 CYP19A1 CYP21A2 NR5A1 STAR
9 hyperandrogenism 30.0 CYP17A1 CYP19A1 CYP21A2 HSD3B2 POMC
10 antley-bixler syndrome 30.0 CYP17A1 CYP19A1 CYP21A2 POR
11 amenorrhea 30.0 NR5A1 POMC SRY
12 familial glucocorticoid deficiency 29.9 MC2R NR0B1 POMC REN STAR
13 polycystic ovary syndrome 29.9 CYP11A1 CYP17A1 CYP19A1 CYP21A2 HSD3B2 STAR
14 luteoma 29.8 CYP19A1 CYP21A2 STAR
15 ovarian disease 29.7 CYP11A1 CYP19A1 NR5A1 REN STAR
16 hypertensive encephalopathy 29.7 CYP19A1 REN
17 hypospadias 29.6 CYP11A1 CYP17A1 HSD3B2 NR5A1 SRY
18 cryptorchidism, unilateral or bilateral 29.6 CYP19A1 NR5A1 SRY
19 adrenal cortical adenoma 29.5 CYP11A1 CYP11B1 CYP17A1 CYP21A2 MC2R NR5A1
20 adrenal adenoma 29.5 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 MC2R
21 conn's syndrome 29.5 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 MC2R
22 adrenal carcinoma 29.2 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 NR5A1
23 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.7
24 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 12.5
25 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 12.4
26 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 12.4
27 classic congenital lipoid adrenal hyperplasia due to star deficency 12.4
28 non-classic congenital lipoid adrenal hyperplasia due to star deficency 12.4
29 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 12.2
30 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 12.2
31 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 12.2
32 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 12.1
33 acth-independent macronodular adrenal hyperplasia 11.8
34 aromatase deficiency 11.6
35 ehlers-danlos syndrome, classic-like 11.2
36 infertility 10.4
37 precocious puberty 10.2
38 male infertility 10.2
39 pseudohypoaldosteronism 10.2
40 congenital hypothyroidism 10.2
41 hypothyroidism 10.2
42 neonatal hypothyroidism 10.2
43 glucocorticoid deficiency 1 10.2 MC2R POMC
44 aldosterone-producing adenoma 10.2 CYP11B2 CYP21A2
45 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 CYP11A1 CYP17A1 CYP21A2
46 adenoma 10.2
47 encephalopathy 10.2
48 ovarian cyst 10.2
49 ehlers-danlos syndrome 10.1
50 central precocious puberty 10.1

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



Diseases related to Lipoid Congenital Adrenal Hyperplasia

Symptoms & Phenotypes for Lipoid Congenital Adrenal Hyperplasia

Symptoms via clinical synopsis from OMIM:

57
G U:
hypospadias
phenotypic female

Metabolic:
salt-wasting

Endo:
adrenogenital syndrome
lipoid adrenal hyperplasia

Lab:
20, 22 desmolase deficiency


Clinical features from OMIM:

201710

Human phenotypes related to Lipoid Congenital Adrenal Hyperplasia:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
3 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
6 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
7 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
8 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
9 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
10 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
11 absence of secondary sex characteristics 59 32 hallmark (90%) Very frequent (99-80%) HP:0008187
12 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
13 hyponatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002902
14 hypercholesterolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003124
15 adrenocortical adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0008256
16 abnormality of the menstrual cycle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000140
17 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
18 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
19 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
20 abnormal spermatogenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008669
21 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
22 ambiguous genitalia, male 59 32 hallmark (90%) Very frequent (99-80%) HP:0000033
23 urogenital sinus anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100779
24 renal salt wasting 59 32 hallmark (90%) Very frequent (99-80%) HP:0000127
25 increased circulating renin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0000848
26 abnormality of prenatal development or birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001197
27 acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001941
28 hyperkalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002153
29 decreased circulating aldosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0004319
30 increased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003154
31 hypernatriuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0012605
32 decreased circulating cortisol level 59 32 hallmark (90%) Very frequent (99-80%) HP:0008163
33 female external genitalia in individual with 46,xy karyotype 59 32 hallmark (90%) Very frequent (99-80%) HP:0008730
34 hypovolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011106
35 adrenocorticotropic hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0011749
36 sex reversal 59 32 hallmark (90%) Very frequent (99-80%) HP:0012245
37 abnormal urine potassium concentration 59 32 hallmark (90%) Very frequent (99-80%) HP:0012598
38 decreased circulating androgen level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030349
39 decreased fertility in females 59 32 hallmark (90%) Very frequent (99-80%) HP:0000868
40 decreased fertility in males 59 32 hallmark (90%) Very frequent (99-80%) HP:0012041
41 adrenogenital syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000840
42 congenital adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008258
43 ectopic adrenal gland 59 32 hallmark (90%) Very frequent (99-80%) HP:0011742
44 hypertension 32 hallmark (90%) HP:0000822
45 feeding difficulties in infancy 32 frequent (33%) HP:0008872
46 abnormality of metabolism/homeostasis 32 hallmark (90%) HP:0001939
47 reduced bone mineral density 59 Very frequent (99-80%)
48 failure to thrive in infancy 32 frequent (33%) HP:0001531
49 primary adrenal insufficiency 59 Very frequent (99-80%)
50 hypospadias 32 hallmark (90%) HP:0000047

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

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.31 CYP11B2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.31 POR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.31 CYP11B2 CYP21A1P CYP21A2 HSD3BP4 POR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10.31 CYP21A1P
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.31 CYP21A2 HSD3BP4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 10.31 HSD3BP4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.31 CYP21A1P NR5A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10.31 CYP11B2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.31 POR
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 10.31 CYP21A1P CYP21A2 CYP11A1 NR5A1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 10.31 CYP11B2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.31 POR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.31 CYP21A2 CYP11A1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.31 HSD3BP4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.31 CYP21A1P CYP21A2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.31 CYP21A2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.31 POR
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.31 CYP11A1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.31 HSD3BP4
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.31 CYP11B2 HSD3BP4
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.31 CYP11B2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.31 CYP11B2
23 Reduced mammosphere formation GR00396-S 9.28 C4A CYP11B1 CYP21A2 HSD3B2 MC2R NR0B1

MGI Mouse Phenotypes related to Lipoid Congenital Adrenal Hyperplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 BTD CYP11A1 CYP11B1 CYP17A1 CYP19A1 MC2R
2 growth/size/body region MP:0005378 10.03 BTD CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1
3 cardiovascular system MP:0005385 10.02 CYP11A1 CYP11B1 CYP11B2 CYP19A1 MC2R NR5A1
4 endocrine/exocrine gland MP:0005379 10.02 CYP11A1 CYP11B1 CYP11B2 CYP19A1 MC2R NR0B1
5 homeostasis/metabolism MP:0005376 9.97 BTD CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1
6 renal/urinary system MP:0005367 9.56 BTD CYP11B1 CYP11B2 CYP17A1 CYP19A1 POMC
7 reproductive system MP:0005389 9.28 CYP11A1 CYP11B2 CYP17A1 CYP19A1 NR0B1 NR5A1

Drugs & Therapeutics for Lipoid Congenital Adrenal Hyperplasia

Genetic Tests for Lipoid Congenital Adrenal Hyperplasia

Genetic tests related to Lipoid Congenital Adrenal Hyperplasia:

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

Anatomical Context for Lipoid Congenital Adrenal Hyperplasia

MalaCards organs/tissues related to Lipoid Congenital Adrenal Hyperplasia:

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

Publications for Lipoid Congenital Adrenal Hyperplasia

Articles related to Lipoid Congenital Adrenal Hyperplasia:

(show top 50) (show all 1517)
# Title Authors Year
1
CORRIGENDUM FOR "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline". ( 30407499 )
2019
2
Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-I+ Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome. ( 29294229 )
2018
3
Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumor. ( 29371828 )
2018
4
Secondary Pseudohypoaldosteronism Masquerading Congenital Adrenal Hyperplasia in a Neonate. ( 29854986 )
2018
5
Testicular adrenal rest tumor without congenital adrenal hyperplasia: A rare case. ( 30041282 )
2018
6
Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia. ( 30149373 )
2018
7
Editorial Comment to Testicular adrenal rest tumor without congenital adrenal hyperplasia: A rare case. ( 30276892 )
2018
8
A novel homozygous CYP19A1 gene mutation: Aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation. ( 30074481 )
2018
9
Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life. ( 30140784 )
2018
10
Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia. ( 29549556 )
2018
11
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling. ( 29996815 )
2018
12
Congenital adrenal hyperplasia due to 17-alpha hydroxylase deficiency with hypertensive encephalopathy, hypoglycemic seizures and adrenal insufficiency. ( 30104848 )
2018
13
Female Pseudo Hermaphroditism: Late Onset Congenital Adrenal Hyperplasia. ( 30465385 )
2018
14
Pubertal Development and Pregnancy Outcomes in 46,XX Patients with Nonclassic Lipoid Congenital Adrenal Hyperplasia. ( 30476142 )
2018
15
Adrenal myelolipoma in association with congenital adrenal hyperplasia. ( 30535624 )
2018
16
Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives. ( 28523454 )
2018
17
Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone. ( 29029106 )
2018
18
Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose. ( 29073619 )
2018
19
Quantitative Brain MRI in Congenital Adrenal Hyperplasia: In Vivo Assessment of the Cognitive and Structural Impact of Steroid Hormones. ( 29165577 )
2018
20
Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. ( 29230843 )
2018
21
Newborn screening of congenital adrenal hyperplasia. ( 29241677 )
2018
22
Congenital adrenal hyperplasia causing hypertension: an illustrative review. ( 29255217 )
2018
23
CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge. ( 29266270 )
2018
24
Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia. ( 29277706 )
2018
25
Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention. ( 29315077 )
2018
26
Gendered Peer Involvement in Girls with Congenital Adrenal Hyperplasia: Effects of Prenatal Androgens, Gendered Activities, and Gender Cognitions. ( 29318470 )
2018
27
Parental decisional regret and views about optimal timing of female genital restoration surgery in congenital adrenal hyperplasia. ( 29330019 )
2018
28
Gonadal function in adult male patients with congenital adrenal hyperplasia. ( 29339528 )
2018
29
Poor compliance and increased mortality, depression and healthcare costs in patients with congenital adrenal hyperplasia. ( 29371334 )
2018
30
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. ( 29386111 )
2018
31
Evaluation of behavioral problems after prenatal dexamethasone treatment in Swedish children and adolescents at risk of congenital adrenal hyperplasia. ( 29410007 )
2018
32
Re: Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia: M. S. Kim, F. Goodarzian, M. F. Keenan, M. E. Geffner, C. M. Koppin, R. E. De Filippo and P. J. Kokorowski J Urol 2017;197:931-936. ( 29428631 )
2018
33
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa. ( 29429446 )
2018
34
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene. ( 29450859 )
2018
35
Bone mineral density and body composition in children with congenital adrenal hyperplasia. ( 29460378 )
2018
36
Para-ovarian adrenal rest tumors: gynecologic manifestations of untreated congenital adrenal hyperplasia. ( 29460643 )
2018
37
Characteristics of Female Genital Restoration Surgery for Congenital Adrenal Hyperplasia Using a Large-scale Administrative Database. ( 29505858 )
2018
38
Long-term urinary symptoms in adolescent and adult women with congenital adrenal hyperplasia. ( 29525535 )
2018
39
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods. ( 29543924 )
2018
40
Bilateral Adrenalectomy in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. ( 29554355 )
2018
41
First Case of Bacteremia Caused by Kytococcus schroeteri in a Child With Congenital Adrenal Hyperplasia. ( 29570584 )
2018
42
Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia. ( 29584889 )
2018
43
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations ( 29595516 )
2018
44
A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens? ( 29615074 )
2018
45
Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia. ( 29684512 )
2018
46
Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation. ( 29715434 )
2018
47
Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 29718004 )
2018
48
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome. ( 29734195 )
2018
49
Prenatal Treatment of Congenital Adrenal Hyperplasia: Long-Term Effects of Excess Glucocorticoid Exposure. ( 29742490 )
2018
50
Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia. ( 29750654 )
2018

Variations for Lipoid Congenital Adrenal Hyperplasia

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

75
# Symbol AA change Variation ID SNP ID
1 STAR p.Arg182Leu VAR_005627 rs104894086
2 STAR p.Glu169Gly VAR_014236
3 STAR p.Glu169Lys VAR_014237 rs747169620
4 STAR p.Arg217Thr VAR_014238 rs137852689
5 STAR p.Ala218Val VAR_014239 rs137852690
6 STAR p.Met225Thr VAR_014240
7 STAR p.Leu275Pro VAR_014242 rs762245736

ClinVar genetic disease variations for Lipoid Congenital Adrenal Hyperplasia:

6 (show top 50) (show all 399)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B1 NM_000497.3(CYP11B1): c.124C> T (p.Pro42Ser) single nucleotide variant Pathogenic rs104894069 GRCh37 Chromosome 8, 143961106: 143961106
2 CYP11B1 NM_000497.3(CYP11B1): c.124C> T (p.Pro42Ser) single nucleotide variant Pathogenic rs104894069 GRCh38 Chromosome 8, 142879690: 142879690
3 CYP11B1 NM_000497.3(CYP11B1): c.281C> T (p.Pro94Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894070 GRCh37 Chromosome 8, 143960562: 143960562
4 CYP11B1 NM_000497.3(CYP11B1): c.281C> T (p.Pro94Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894070 GRCh38 Chromosome 8, 142879146: 142879146
5 CYP17A1 NM_000102.3(CYP17A1): c.1435_1438dupATCC (p.Pro480Hisfs) duplication Pathogenic/Likely pathogenic rs556794126 GRCh38 Chromosome 10, 102830791: 102830794
6 CYP17A1 NM_000102.3(CYP17A1): c.1435_1438dupATCC (p.Pro480Hisfs) duplication Pathogenic/Likely pathogenic rs556794126 GRCh37 Chromosome 10, 104590548: 104590551
7 STAR STAR, IVS4AS, T-A, -11 single nucleotide variant Pathogenic
8 STAR NM_000349.2(STAR): c.772C> T (p.Gln258Ter) single nucleotide variant Pathogenic rs104894085 GRCh37 Chromosome 8, 38001877: 38001877
9 STAR NM_000349.2(STAR): c.772C> T (p.Gln258Ter) single nucleotide variant Pathogenic rs104894085 GRCh38 Chromosome 8, 38144359: 38144359
10 STAR NM_000349.2(STAR): c.545G> T (p.Arg182Leu) single nucleotide variant Pathogenic rs104894086 GRCh37 Chromosome 8, 38003586: 38003586
11 STAR NM_000349.2(STAR): c.545G> T (p.Arg182Leu) single nucleotide variant Pathogenic rs104894086 GRCh38 Chromosome 8, 38146068: 38146068
12 STAR STAR, 1-BP DEL, 261T deletion Pathogenic
13 STAR STAR, IVS2, 1-BP INS, T, +3 insertion Pathogenic
14 STAR NM_000349.2(STAR): c.749G> A (p.Trp250Ter) single nucleotide variant Pathogenic rs104894087 GRCh37 Chromosome 8, 38001900: 38001900
15 STAR NM_000349.2(STAR): c.749G> A (p.Trp250Ter) single nucleotide variant Pathogenic rs104894087 GRCh38 Chromosome 8, 38144382: 38144382
16 STAR NM_000349.2(STAR): c.650G> C (p.Arg217Thr) single nucleotide variant Pathogenic rs137852689 GRCh37 Chromosome 8, 38003481: 38003481
17 STAR NM_000349.2(STAR): c.650G> C (p.Arg217Thr) single nucleotide variant Pathogenic rs137852689 GRCh38 Chromosome 8, 38145963: 38145963
18 STAR NM_000349.2(STAR): c.653C> T (p.Ala218Val) single nucleotide variant Pathogenic rs137852690 GRCh37 Chromosome 8, 38002831: 38002831
19 STAR NM_000349.2(STAR): c.653C> T (p.Ala218Val) single nucleotide variant Pathogenic rs137852690 GRCh38 Chromosome 8, 38145313: 38145313
20 STAR STAR, IVS1, G-T, +1 single nucleotide variant Pathogenic
21 STAR NM_000349.2(STAR): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic/Likely pathogenic rs104894086 GRCh37 Chromosome 8, 38003586: 38003586
22 STAR NM_000349.2(STAR): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic/Likely pathogenic rs104894086 GRCh38 Chromosome 8, 38146068: 38146068
23 STAR NM_000349.2(STAR): c.559G> A (p.Val187Met) single nucleotide variant Likely pathogenic rs104894089 GRCh37 Chromosome 8, 38003572: 38003572
24 STAR NM_000349.2(STAR): c.559G> A (p.Val187Met) single nucleotide variant Likely pathogenic rs104894089 GRCh38 Chromosome 8, 38146054: 38146054
25 STAR NM_000349.2(STAR): c.562C> T (p.Arg188Cys) single nucleotide variant Pathogenic rs104894090 GRCh37 Chromosome 8, 38003569: 38003569
26 STAR NM_000349.2(STAR): c.562C> T (p.Arg188Cys) single nucleotide variant Pathogenic rs104894090 GRCh38 Chromosome 8, 38146051: 38146051
27 STAR STAR, 2-BP DEL, 201CT deletion Pathogenic
28 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh37 Chromosome 6, 32007849: 32007849
29 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh38 Chromosome 6, 32040072: 32040072
30 STAR NM_000349.2(STAR): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs387907235 GRCh37 Chromosome 8, 38003554: 38003554
31 STAR NM_000349.2(STAR): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs387907235 GRCh38 Chromosome 8, 38146036: 38146036
32 CYP11B1 NM_000497.3(CYP11B1): c.1003A> G (p.Asn335Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61752766 GRCh37 Chromosome 8, 143957246: 143957246
33 CYP11B1 NM_000497.3(CYP11B1): c.1003A> G (p.Asn335Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61752766 GRCh38 Chromosome 8, 142875830: 142875830
34 CYP11B1 NM_000497.3(CYP11B1): c.1015G> A (p.Ala339Thr) single nucleotide variant Uncertain significance rs193922534 GRCh37 Chromosome 8, 143957234: 143957234
35 CYP11B1 NM_000497.3(CYP11B1): c.1015G> A (p.Ala339Thr) single nucleotide variant Uncertain significance rs193922534 GRCh38 Chromosome 8, 142875818: 142875818
36 CYP11B1 NM_000497.3(CYP11B1): c.1015_1016delGCinsAT (p.Ala339Ile) indel Uncertain significance rs193922535 GRCh37 Chromosome 8, 143957233: 143957234
37 CYP11B1 NM_000497.3(CYP11B1): c.1015_1016delGCinsAT (p.Ala339Ile) indel Uncertain significance rs193922535 GRCh38 Chromosome 8, 142875817: 142875818
38 CYP11B1 NM_000497.3(CYP11B1): c.1016C> T (p.Ala339Val) single nucleotide variant Uncertain significance rs193922536 GRCh37 Chromosome 8, 143957233: 143957233
39 CYP11B1 NM_000497.3(CYP11B1): c.1016C> T (p.Ala339Val) single nucleotide variant Uncertain significance rs193922536 GRCh38 Chromosome 8, 142875817: 142875817
40 CYP11B1 NM_000497.3(CYP11B1): c.1120C> A (p.Arg374=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752786 GRCh37 Chromosome 8, 143957129: 143957129
41 CYP11B1 NM_000497.3(CYP11B1): c.1120C> A (p.Arg374=) single nucleotide variant Conflicting interpretations of pathogenicity rs61752786 GRCh38 Chromosome 8, 142875713: 142875713
42 CYP11B1 NM_000497.3(CYP11B1): c.1120C> T (p.Arg374Trp) single nucleotide variant Likely pathogenic rs61752786 GRCh37 Chromosome 8, 143957129: 143957129
43 CYP11B1 NM_000497.3(CYP11B1): c.1120C> T (p.Arg374Trp) single nucleotide variant Likely pathogenic rs61752786 GRCh38 Chromosome 8, 142875713: 142875713
44 CYP11B1 NM_000497.3(CYP11B1): c.1122-12C> T single nucleotide variant Uncertain significance rs193922537 GRCh37 Chromosome 8, 143956740: 143956740
45 CYP11B1 NM_000497.3(CYP11B1): c.1122-12C> T single nucleotide variant Uncertain significance rs193922537 GRCh38 Chromosome 8, 142875324: 142875324
46 CYP11B1 NM_000497.3(CYP11B1): c.1122-20A> G single nucleotide variant Conflicting interpretations of pathogenicity rs61752794 GRCh37 Chromosome 8, 143956748: 143956748
47 CYP11B1 NM_000497.3(CYP11B1): c.1122-20A> G single nucleotide variant Conflicting interpretations of pathogenicity rs61752794 GRCh38 Chromosome 8, 142875332: 142875332
48 CYP11B1 NM_000497.3(CYP11B1): c.1144C> T (p.Leu382=) single nucleotide variant Benign/Likely benign rs5293 GRCh37 Chromosome 8, 143956706: 143956706
49 CYP11B1 NM_000497.3(CYP11B1): c.1144C> T (p.Leu382=) single nucleotide variant Benign/Likely benign rs5293 GRCh38 Chromosome 8, 142875290: 142875290
50 CYP11B1 NM_000497.3(CYP11B1): c.125C> T (p.Pro42Leu) single nucleotide variant Likely pathogenic rs193922538 GRCh37 Chromosome 8, 143961105: 143961105

Copy number variations for Lipoid Congenital Adrenal Hyperplasia from CNVD:

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

Expression for Lipoid Congenital Adrenal Hyperplasia

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

Pathways for Lipoid Congenital Adrenal Hyperplasia

Pathways related to Lipoid Congenital Adrenal Hyperplasia according to KEGG:

37
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 BTD CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1
2
Show member pathways
13.06 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
3
Show member pathways
12.41 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
4
Show member pathways
12.36 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD3B1 HSD3B2
5 12.3 CYP11A1 CYP17A1 CYP19A1 STAR
6 11.83 CYP11A1 CYP11B1 CYP21A2 HSD3B1 HSD3B2 POMC
7
Show member pathways
11.64 CYP11A1 MC2R POMC
8
Show member pathways
11.58 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
9 11.54 CYP11A1 CYP17A1 CYP19A1 HSD3B1 HSD3B2 STAR
10
Show member pathways
11.53 CYP11B1 CYP17A1 CYP19A1 HSD3B1 HSD3B2
11
Show member pathways
11.27 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
12
Show member pathways
11.06 CYP11B1 CYP11B2 CYP17A1 CYP21A2

GO Terms for Lipoid Congenital Adrenal Hyperplasia

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.91 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2 POR
2 endoplasmic reticulum membrane GO:0005789 9.8 CYP17A1 CYP19A1 CYP21A2 HSD3B1 HSD3B2 POR
3 mitochondrial inner membrane GO:0005743 9.55 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2
4 mitochondrial intermembrane space GO:0005758 9.43 HSD3B1 HSD3B2 STAR
5 smooth endoplasmic reticulum membrane GO:0030868 8.96 HSD3B1 HSD3B2
6 mitochondrial membrane GO:0031966 8.92 CYP11B1 CYP11B2 HSD3B1 HSD3B2

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.85 NR0B1 NR5A1 REN STAR
2 steroid metabolic process GO:0008202 9.85 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 cholesterol metabolic process GO:0008203 9.84 CYP11A1 CYP11B1 CYP11B2 STAR
4 regulation of blood pressure GO:0008217 9.76 CYP11B1 POMC REN
5 cellular response to peptide hormone stimulus GO:0071375 9.71 CYP11A1 CYP11B1 CYP11B2 POR
6 response to corticosterone GO:0051412 9.7 HSD3B1 HSD3B2 STAR
7 estrogen biosynthetic process GO:0006703 9.69 CYP19A1 HSD3B1 STAR
8 male sex determination GO:0030238 9.67 NR0B1 NR5A1 SRY
9 androgen biosynthetic process GO:0006702 9.65 CYP17A1 HSD3B1 HSD3B2
10 steroid biosynthetic process GO:0006694 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
11 female gonad development GO:0008585 9.64 CYP19A1 NR5A1
12 sex differentiation GO:0007548 9.63 CYP17A1 SRY
13 adrenal gland development GO:0030325 9.63 NR0B1 NR5A1
14 sterol metabolic process GO:0016125 9.63 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
15 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.62 POR STAR
16 cellular response to potassium ion GO:0035865 9.62 CYP11B1 CYP11B2
17 C21-steroid hormone biosynthetic process GO:0006700 9.62 CYP11A1 CYP11B1 CYP11B2 STAR
18 cellular response to gonadotropin stimulus GO:0071371 9.61 POR STAR
19 positive regulation of male gonad development GO:2000020 9.61 NR5A1 SRY
20 C21-steroid hormone metabolic process GO:0008207 9.61 CYP11A1 HSD3B1 HSD3B2
21 regulation of steroid biosynthetic process GO:0050810 9.6 NR5A1 STAR
22 sex determination GO:0007530 9.59 NR0B1 NR5A1
23 testosterone biosynthetic process GO:0061370 9.58 CYP19A1 STAR
24 aldosterone biosynthetic process GO:0032342 9.57 CYP11B1 CYP11B2
25 cortisol biosynthetic process GO:0034651 9.56 CYP11B1 CYP11B2
26 mineralocorticoid biosynthetic process GO:0006705 9.56 CYP11B2 CYP21A2 HSD3B1 HSD3B2
27 glucocorticoid biosynthetic process GO:0006704 9.17 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
28 oxidation-reduction process GO:0055114 10.02 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.73 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
2 iron ion binding GO:0005506 9.63 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
3 steroid hydroxylase activity GO:0008395 9.61 CYP11B2 CYP19A1 CYP21A2
4 oxidoreductase activity GO:0016491 9.61 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2
5 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.48 HSD3B1 HSD3B2
6 steroid delta-isomerase activity GO:0004769 9.46 HSD3B1 HSD3B2
7 cholesterol dehydrogenase activity GO:0102294 9.4 HSD3B1 HSD3B2
8 corticosterone 18-monooxygenase activity GO:0047783 9.37 CYP11B1 CYP11B2
9 steroid 11-beta-monooxygenase activity GO:0004507 9.32 CYP11B1 CYP11B2
10 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2

Sources for Lipoid Congenital Adrenal Hyperplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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