Lipoid Congenital Adrenal Hyperplasia malady

Wikipedia: Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially...⁴⁴ more...

MalaCards: Lipoid Congenital Adrenal Hyperplasia, also known as congenital lipoid adrenal hyperplasia, is related to 21-hydroxylase deficiency and lipoid adrenal hyperplasia. An important gene associated with Lipoid Congenital Adrenal Hyperplasia is STAR (steroidogenic acute regulatory protein), and among its related pathways are Development_Role of Activin A in cell differentiation and proliferation and Development Role of Activin A in cell differentiation and proliferation. The drugs hydrocortisone probutate and hydrocortisone buteprate and the compounds di-n-butyl phthalate and monobutyl phthalate have been mentioned in the context of this disorder. Affiliated tissues include cortex and adrenal cortex, and related mouse phenotype reproductive system.

OMIM: 201710

lipoid congenital adrenal hyperplasia 7 30 33 32 43 congenital lipoid adrenal hyperplasia 30 congenital adrenal hyperplasia lipoid 30

congenital adrenal hyperplasia 43 lipoid cah 30

Diseases related to lipoid congenital adrenal hyperplasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 76)

id	Related Disease	Score	Top Affiliating Genes
1	21-hydroxylase deficiency	38.1	CYP11A1, POR
2	lipoid adrenal hyperplasia	37.7	STAR, CYP11A1
3	virilization	32.5	CYP11A1, POR
4	pseudohermaphroditism	31.8	STAR, NR5A1
5	familial glucocorticoid deficiency	31.2	MRAP, STAR
6	glucocorticoid deficiency	31.1	STAR, MRAP
7	adrenal hyperplasia	31.0	NR5A1, POR, STAR, MRAP, CYP11A1
8	hyperandrogenism	30.7	CYP11A1, STAR, NR5A1
9	polycystic ovary syndrome	30.7	CYP11A1, STAR
10	infertility	30.6	STAR, NR5A1, CYP11A1
11	aldosteronism	30.5	STAR, CYP11A1, NR5A1
12	cholesterol	28.2	NR5A1, CYP11A1, STAR, POR
13	adenoma	27.1	POR, CYP11A1, NR5A1, STAR
14	congenital adrenal insufficiency	12.9	CYP11A1, STAR
15	smith-lemli-opitz syndrome	12.8	STAR, CYP11A1
16	fragile x-associated primary ovarian insufficiency	12.8	STAR, CYP11A1
17	x-linked adrenal hypoplasia congenita	12.8	STAR, NR5A1
18	adrenocortical insufficiency	12.8	NR5A1, STAR
19	46, xy disorders of sexual development	12.7	NR5A1, STAR
20	hypogonadotropism	12.6	NR5A1, STAR
21	premature ovarian failure	12.3	NR5A1, CYP11A1
22	dosage-sensitive sex reversal	12.3	STAR, CYP11A1, NR5A1
23	xy sex reversal	12.3	CYP11A1, NR5A1, STAR
24	adrenal hypoplasia	12.3	STAR, CYP11A1, NR5A1
25	sex reversal	12.3	STAR, NR5A1, CYP11A1
26	cushing's syndrome	12.3	CYP11A1, POR
27	cerebellar hypoplasia	12.3	STAR, NR5A1, CYP11A1
28	leydig cell tumor	12.3	CYP11A1, NR5A1, STAR
29	abrikosov's tumor	12.3	STAR, NR5A1, CYP11A1
30	adrenocortical carcinoma	12.3	NR5A1, STAR, CYP11A1
31	adrenocortical tumor	12.3	NR5A1, CYP11A1, STAR
32	hypospadias	12.2	CYP11A1, NR5A1
33	hypogonadism	12.2	CYP11A1, NR5A1, STAR
34	choriocarcinoma	12.1	STAR, NR5A1, CYP11A1
35	bartter disease	12.1	CYP11A1, STAR, NR5A1
36	endometriosis	11.9	CYP11A1, NR5A1, STAR
37	endometrial cancer	11.9	CYP11A1, NR5A1, STAR
38	adrenal adenoma	11.5	CYP11A1, NR5A1, POR, STAR
39	11-beta-hydroxylase deficiency	11.2
40	addison's disease	11.0	POR, STAR, NR5A1, CYP11A1, MRAP
41	21-hydroxylase-deficient congenital adrenal hyperplasia	10.3
42	late-onset congenital adrenal hyperplasia	10.2
43	3-beta-hydroxysteroid dehydrogenase deficiency	10.1
44	11-beta-hydroxylase-deficient congenital adrenal hyperplasia	9.1
45	3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia	8.8
46	17-alpha-hydroxylase deficiency	8.6
47	17-alpha-hydroxylase-deficient congenital adrenal hyperplasia	8.2
48	congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency	8.2
49	hypertension	8.2
50	cholesterol desmolase-deficient congenital adrenal hyperplasia	7.9

Clinical features from OMIM: 201710

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 hydrocortisone, hydrocortisone acetate, hydrocortisone acetate pwdr [va product], hydrocortisone acetonide, hydrocortisone acetonide pwdr [va product], hydrocortisone buteprate, hydrocortisone butyrate, hydrocortisone cypionate, hydrocortisone probutate, hydrocortisone pwdr [va product], hydrocortisone sodium phosphate, hydrocortisone sodium succinate, hydrocortisone valerate, hydrocortisone,nonsterile pwdr [va product]

MalaCards organs/tissues related to lipoid congenital adrenal hyperplasia:

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MGI Mouse Phenotypes related to lipoid congenital adrenal hyperplasia:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	reproductive system phenotype	MP:0005389	8.1	CYP11A1, NR5A1, STAR, POR

Articles related to lipoid congenital adrenal hyperplasia:

id	Title	Authors	Year	Affiliating Genes
1	Functional and physiological consequences of StAR def iciency: role in lipoid congenital adrenal hyperplasia. (21164258)	King S.R.... Stocco D.M.	2011	STAR
2	Nonclassic lipoid congenital adrenal hyperplasia masq uerading as familial glucocorticoid deficiency. (19773404)	Metherell L.A.... Clark A.J.	2009	STAR, MRAP
3	Gonadal function, first cases of pregnancy, and child delivery in a woman with lipoid congenital adrenal hyperplasia. (19158201)	Khoury K.... Lehoux J.G.	2009	STAR
4	Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia. (11509019)	Achermann J.C.... Jameson J.L.	2001	STAR

Genes related to lipoid congenital adrenal hyperplasia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	STAR	steroidogenic acute regulatory protein	11.0	Publications
2	CYP11A1	cytochrome P450, family 11, subfamily A, polypeptide 1	11.0
3	NR5A1	nuclear receptor subfamily 5, group A, member 1	11.0
4	POR	P450 (cytochrome) oxidoreductase	11.0
5	MRAP	melanocortin 2 receptor accessory protein	11.0	Publications

Pathways related to lipoid congenital adrenal hyperplasia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Development_Role of Activin A in cell differentiation and proliferation41	8.9	CYP11A1, NR5A1, STAR
2	Development Role of Activin A in cell differentiation and proliferation10	8.6	CYP11A1, NR5A1, STAR

Compounds related to lipoid congenital adrenal hyperplasia according to GeneDecks:

(show all 48)

id	Compound	Score	Top Affiliating Genes
1	di-n-butyl phthalate32	9.9	STAR, CYP11A1
2	monobutyl phthalate32	9.9	CYP11A1, STAR
3	27-hydroxycholesterol32	9.9	STAR, CYP11A1
4	digoxin32 42 34 9 18 9	14.8	CYP11A1, STAR
5	ouabain32 42 9 9	12.8	CYP11A1, STAR
6	prostaglandin f2alpha32	9.8	CYP11A1, STAR
7	(+-)-pgf2-alpha32	9.7	NR5A1, STAR
8	hydroxysteroid32	9.7	CYP11A1, NR5A1
9	25-hydroxycholesterol32 18	10.7	CYP11A1, NR5A1
10	dbc-amp32	9.7	STAR, CYP11A1
11	dehydroepiandrosterone sulfate32	9.6	NR5A1, CYP11A1
12	progestin32	9.6	CYP11A1, STAR
13	7-ethoxycoumarin32	9.5	POR, CYP11A1
14	aminopyrine32	9.5	POR, CYP11A1
15	lauric acid32	9.5	CYP11A1, POR
16	ethoxyresorufin32	9.5	POR, CYP11A1
17	haem32	9.5	CYP11A1, POR
18	17-hydroxyprogesterone32 18	10.5	CYP11A1, POR
19	flavin32	9.5	CYP11A1, POR
20	erythromycin32 9 9	11.4	CYP11A1, POR
21	22r-hydroxycholesterol32	9.3	STAR, NR5A1, CYP11A1
22	17beta-hydroxysteroid32	9.3	CYP11A1, STAR, NR5A1
23	corticosterone32 18	10.3	CYP11A1, STAR, NR5A1
24	sterol32	9.3	CYP11A1, NR5A1, STAR
25	gnrh32	9.3	STAR, NR5A1, CYP11A1
26	ribonucleic acid32	9.2	NR5A1, STAR, CYP11A1
27	actinomycin d32	9.2	STAR, NR5A1, CYP11A1
28	estradiol32 9 18 9	12.2	STAR, NR5A1, CYP11A1
29	forskolin32 42 9 9	12.2	NR5A1, CYP11A1, STAR
30	nifedipine32 9 9	11.1	CYP11A1, POR
31	adenylate32	9.1	STAR, NR5A1, CYP11A1
32	androstenedione32 18	10.1	STAR, CYP11A1, POR
33	cyclic amp32 18	10.1	STAR, CYP11A1, NR5A1
34	cycloheximide32	9.1	CYP11A1, STAR, NR5A1
35	phosphatidylcholine32	9.1	STAR, POR, CYP11A1
36	alpha tocopherol32	9.0	CYP11A1, POR
37	estrone32 9 18 9	12.0	POR, NR5A1
38	progesterone32 42 9 18 9	13.0	CYP11A1, NR5A1, STAR
39	diethylstilbestrol32 9 9	11.0	POR, STAR, NR5A1
40	cholesterol32 9 18 9	11.9	CYP11A1, NR5A1, STAR
41	acth32	8.8	MRAP, STAR, NR5A1, CYP11A1
42	3beta-hydroxysteroid32	8.5	CYP11A1, STAR, NR5A1, POR
43	dhea32	8.5	NR5A1, CYP11A1, POR, STAR
44	phospholipid32	8.5	CYP11A1, NR5A1, STAR, POR
45	testosterone32 9 18 9	11.5	CYP11A1, NR5A1, STAR, POR
46	steroid32	8.5	STAR, NR5A1, POR, CYP11A1
47	estrogen32	8.4	CYP11A1, NR5A1, POR, STAR
48	dexamethasone32 42 34 9 9	12.4	POR, STAR, CYP11A1

Biological processes related to lipoid congenital adrenal hyperplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	C21-steroid hormone biosynthetic process	GO:006700	9.6	CYP11A1, STAR
2	steroid metabolic process	GO:008202	9.5	STAR, CYP11A1
3	cholesterol metabolic process	GO:008203	9.2	CYP11A1, STAR
4	cellular response to follicle-stimulating hormone stimulus	GO:071372	9.1	POR, CYP11A1
5	cellular response to peptide hormone stimulus	GO:071375	9.0	CYP11A1, POR

Molecular functions related to lipoid congenital adrenal hyperplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cholesterol binding	GO:015485	9.5	CYP11A1, STAR