Glucocorticoid-remediable Aldosteronism malady

Wikipedia: Glucocorticoid remediable aldosteronism (GRA), also describable as aldosterone synthase hyperactivity,...⁴⁴ more...

MalaCards: Glucocorticoid-remediable Aldosteronism, also known as hyperaldosteronism, familial type 1, is related to familial hyperaldosteronism and hyperaldosteronism. An important gene associated with Glucocorticoid-remediable Aldosteronism is CYP11B2 (cytochrome P450, family 11, subfamily B, polypeptide 2), and among its related pathways are ACE Inhibitor Pathway, Pharmacodynamics and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs spironolactone and spironolactone pwdr [va product] and the compounds 18-hydroxydeoxycorticosterone and 18-oxocortisol have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and renal/urinary system.

OMIM: 103900

Aliases & Descriptions:

glucocorticoid-remediable aldosteronism 6 30 16 8 32 43 hyperaldosteronism, familial type 1 30 16 glucocorticoid-suppressible hyperaldosteronism 16 aldosteronism, sensitive to dexamethasone 16 aldosteronism, glucocorticoid-remediable 33

glucocorticoid sensitive hypertension 30 dexamethasone sensitive hypertension 30 familial hyperaldosteronism type 1 30 hyperaldosteronism 43

Diseases related to glucocorticoid-remediable aldosteronism by text searches and GeneDecks gene sharing:

(show top 50)    (show all 114)

id	Related Disease	Score	Top Affiliating Genes
1	familial hyperaldosteronism	33.0	CYP11B1, KCNJ5, REN, POMC, CYP11B2
2	hyperaldosteronism	32.2	CYP11B2, CYP11B1, NR3C2, POMC, REN, KCNJ5
3	hypertension	30.5	REN, ADD1, CYP11B2
4	aldosteronism	30.4	REN, KCNJ5, CYP11B2, CYP11B1, NR3C1, POMC
5	low renin hypertension	29.8	REN, CYP11B2
6	conn's syndrome	29.6	CYP11B2, REN, NR3C2
7	adenoma	27.5	POMC, NR3C1, CYP11B1, CYP11B2, REN, KCNJ5
8	adrenal adenoma	27.1	REN, POMC, CYP11B1
9	twinning	25.7	REN, CYP11B2, CYP11B1, NR3C1, ADD1
10	adrenal hyperplasia	25.2	CYP11B1, CYP11B2, NR3C1, NR3C2, POMC, REN
11	essential hypertension	24.4	KCNJ5, ADD1, WNK4, POMC, CYP11B1, CYP11B2
12	hypokalemia	24.0	NR3C1, NR3C2, POMC, CYP11B2, KCNJ5, REN
13	bartter disease	23.9	POMC, NR3C2, NR3C1, CYP11B1, CYP11B2, KCNJ5
14	11-beta-hydroxylase-deficient congenital adrenal hyperplasia	13.3	CYP11B2, CYP11B1
15	17-alpha-hydroxylase deficiency	13.2	REN, CYP11B2
16	tumors of adrenal cortex	13.1	CYP11B1, POMC
17	x-linked adrenal hypoplasia congenita	13.1	POMC, REN
18	familial glucocorticoid deficiency	13.1	REN, POMC
19	orthostatic intolerance	13.1	REN, POMC
20	pituitary-dependent cushing's disease	13.1	POMC, NR3C1
21	familial male-limited precocious puberty	13.1	CYP11B1, POMC
22	nelson syndrome	13.1	POMC, NR3C1
23	glucocorticoid deficiency	13.1	POMC, REN
24	orthostatic hypotension	13.0	POMC, REN
25	hypertension with brachydactyly	13.0	NR3C2, REN
26	primary pigmented nodular adrenocortical disease	13.0	POMC, NR3C1
27	hypertensive heart disease	13.0	CYP11B2, NR3C2
28	apparent mineralocorticoid excess syndrome	13.0	NR3C2, REN
29	systolic heart failure	13.0	NR3C2, CYP11B2
30	acth deficiency	13.0	NR3C2, POMC
31	neuroectodermal endocrine syndrome	13.0	NR3C1, POMC
32	anuria	13.0	NR3C2, REN
33	adrenocortical hyperplasia	12.9	CYP11B2, CYP11B1, POMC
34	21-hydroxylase deficiency	12.9	CYP11B1, POMC, CYP11B2
35	11-beta-hydroxylase deficiency	12.9	CYP11B1, REN, CYP11B2
36	adrenocortical carcinoma	12.9	CYP11B1, CYP11B2, POMC
37	enhanced s-cone syndrome	12.9	NR3C2, NR3C1
38	hypoaldosteronism	12.9	REN, CYP11B2, POMC
39	pseudohypoaldosteronism type ii	12.9	WNK4, REN
40	pseudohermaphroditism	12.8	POMC, NR3C1
41	adrenocortical tumor	12.8	CYP11B2, CYP11B1, POMC
42	polymyalgia rheumatica	12.8	POMC, NR3C1
43	virilization	12.8	NR3C1, CYP11B1, POMC
44	adrenal hypoplasia	12.7	POMC, NR3C1, REN
45	congestive heart failure	12.7	NR3C2, REN, CYP11B2
46	cushing's syndrome	12.6	POMC, NR3C2, NR3C1
47	adrenal gland hyperfunction	12.6	NR3C1, NR3C2, POMC
48	polycystic kidney disease, autosomal dominant	12.6	ADD1, REN
49	autosomal dominant disease	12.6	NR3C2, WNK4
50	familial hypercholesterolemia	12.6	CYP11B2, NR3C1, ADD1

Clinical features from OMIM: 103900

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 spironolactone, spironolactone pwdr [va product]

Genetic tests related to glucocorticoid-remediable aldosteronism:

id	Genetic test	Affiliating Genes
1	Glucocorticoid-remediable Aldosteronism clinical/research	CYP11B2, CYP11B1, CPN1, CPN2

MGI Mouse Phenotypes related to glucocorticoid-remediable aldosteronism:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system phenotype	MP:0003631	7.8	POMC, NR3C2, NR3C1, CYP11B1, REN, ADD1
2	renal/urinary system phenotype	MP:0005367	7.4	REN, WNK4, POMC, NR3C2, NR3C1, CYP11B1
3	homeostasis/metabolism phenotype	MP:0005376	6.6	ADD1, WNK4, POMC, NR3C2, NR3C1, CYP11B1
4	cardiovascular system phenotype	MP:0005385	6.5	WNK4, POMC, NR3C2, NR3C1, CYP11B1, CYP11B2

Articles related to glucocorticoid-remediable aldosteronism:

id	Title	Authors	Year	Affiliating Genes
1	Diagnosis of glucocorticoid-remediable aldosteronism in hypertensive children. (21625068)	Kamrath C.... Schulze E.	2011	CYP11B1, CYP11B2
2	Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism. (20808686)	Lee I.S.... Jo Y.S.	2010	CYP11B1, CYP11B2
3	A German family with glucocorticoid-remediable aldosteronism. (17277347)	Vonend O.... Rump L.C.	2007	REN
4	Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland. (16110193)	Adler G.... Ciechanowicz A.	2005	CYP11B1, CYP11B2
5	Clinical and gene mutation studies on a Chinese pedigree with glucocorticoid-remediable aldosteronism. (12150724)	Ding W.... Chen J.	2002	REN
6	Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism. (9851772)	MacConnachie A.A.... Haites N.E.	1998	CYP11B2
7	Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. (8954032)	Carroll J.... Mortensen R.	1996	CYP11B2
8	Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. (7792815)	Dluhy R.G.... Lifton R.P.	1995	POMC
9	Glucocorticoid-remediable aldosteronism. (9221269)	Williams G.H.... Dluhy R.G.	1995	REN
10	Abnormality of aldosterone and cortisol late pathways in glucocorticoid-remediable aldosteronism. (8077359)	Fallo F.... Sonino N.	1994	CYP11B2

Genes related to glucocorticoid-remediable aldosteronism according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CYP11B2	cytochrome P450, family 11, subfamily B, polypeptide 2	11.1	Publications
2	CYP11B1	cytochrome P450, family 11, subfamily B, polypeptide 1	11.1	Publications
3	POMC	proopiomelanocortin	11.1	Publications
4	REN	renin	11.1	Publications
5	NR3C2	nuclear receptor subfamily 3, group C, member 2	11.1
6	NR3C1	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	11.1
7	WNK4	WNK lysine deficient protein kinase 4	11.0
8	KCNJ5	potassium inwardly-rectifying channel, subfamily J, member 5	11.0
9	ADD1	adducin 1 (alpha)	11.0

Pathways related to glucocorticoid-remediable aldosteronism according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	ACE Inhibitor Pathway, Pharmacodynamics34	9.7	NR3C2
2	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics34	9.3	REN, CYP11B2, NR3C2

Compounds related to glucocorticoid-remediable aldosteronism according to GeneDecks:

(show top 50)    (show all 84)

id	Compound	Score	Top Affiliating Genes
1	18-hydroxydeoxycorticosterone32	10.1	CYP11B1, CYP11B2
2	18-oxocortisol32	10.0	CYP11B1, CYP11B2
3	18-hydroxycortisol32	10.0	CYP11B1, CYP11B2
4	glucose32	9.8	KCNJ5
5	21-deoxycortisol32 18	10.8	CYP11B2, CYP11B1, POMC
6	etomidate32 9 9	11.8	POMC, CYP11B1, CYP11B2
7	potassium canrenoate32	9.8	NR3C2, NR3C1
8	mitotane32 9 9	11.8	CYP11B1, POMC
9	metoclopramide32 9 9	11.7	CYP11B1, CYP11B2, REN
10	tetrahydroaldosterone32	9.7	REN, CYP11B2, NR3C2
11	fluconazole32 9 9	11.5	POMC, NR3C1, CYP11B1
12	aminoglutethimide32 9 9	11.5	NR3C1, NR3C2, POMC
13	carbenoxolone32 9 9	11.5	NR3C2, NR3C1, REN
14	18-hydroxycorticosterone32 18	10.5	POMC, CYP11B1, CYP11B2, REN
15	glycyrrhetinic acid32 18	10.5	NR3C2, NR3C1, REN
16	glycyrrhizin32	9.4	NR3C2, NR3C1, REN
17	17-hydroxyprogesterone32 18	10.4	POMC, CYP11B1, CYP11B2, REN
18	ang ii32	9.4	REN, CYP11B2, NR3C2
19	androstenedione32 18	10.4	POMC, CYP11B1, CYP11B2, REN
20	3beta-hydroxysteroid32	9.4	POMC, NR3C2, CYP11B1, CYP11B2
21	testosterone32 9 18 9	12.3	KCNJ5, CYP11B2, CYP11B1
22	fluticasone propionate32 42 9 9	12.3	NR3C1, NR3C2, POMC
23	furosemide32 42 34 9 18 9	14.3	ADD1, POMC, REN
24	ketoconazole32 42 9 18 9	13.3	CYP11B1, NR3C1, POMC
25	Aldosterone9 18 9	11.2	NR3C2, NR3C1, CYP11B1, CYP11B2
26	eplerenone32 42 9 9	12.2	NR3C2, NR3C1, CYP11B2, REN
27	dhea32	9.2	CYP11B2, NR3C1, NR3C2, POMC
28	hydrochlorothiazide32 34 9 18 9	13.2	ADD1, NR3C2, CYP11B2, REN
29	estradiol32 9 18 9	12.1	REN, CYP11B1, NR3C1, POMC
30	metyrapone32 42 9 9	11.9	POMC, NR3C2, NR3C1, CYP11B1, CYP11B2
31	cortisone32 18	9.9	CYP11B2, CYP11B1, NR3C1, NR3C2, POMC
32	ribonucleic acid32	8.9	CYP11B2, CYP11B1, NR3C2, POMC
33	thiazide32	8.9	REN, NR3C2, WNK4, ADD1
34	fludrocortisone32 9 9	10.8	POMC, NR3C2, NR3C1, CYP11B2, REN
35	haloperidol32 34 9 9	11.5	POMC, NR3C2, CYP11B2, KCNJ5, REN
36	doca32	8.5	NR3C2, POMC, NR3C1, CYP11B1, REN, CYP11B2
37	11 deoxycortisol32	8.5	REN, CYP11B2, CYP11B1, NR3C1, NR3C2, POMC
38	11beta-hydroxysteroid32	8.5	POMC, NR3C2, NR3C1, CYP11B1, CYP11B2, REN
39	corticosterone32 18	9.5	POMC, NR3C2, NR3C1, CYP11B1, CYP11B2, REN
40	hydrocortisone32 9 9	10.5	POMC, NR3C2, NR3C1, CYP11B1, CYP11B2, REN
41	acth32	8.5	POMC, NR3C2, NR3C1, CYP11B1, CYP11B2, REN
42	progesterone32 42 9 18 9	12.5	POMC, NR3C2, NR3C1, CYP11B1, CYP11B2
43	norepinephrine32 9 18 9	11.4	POMC, NR3C2, CYP11B2, KCNJ5, REN
44	steroid32	8.4	POMC, NR3C2, NR3C1, CYP11B1, CYP11B2, REN
45	dexamethasone32 42 34 9 9	12.4	REN, CYP11B2, CYP11B1, NR3C1, NR3C2, POMC
46	dopamine32 9 18 9	11.2	POMC, NR3C2, NR3C1, KCNJ5, REN
47	cholesterol32 9 18 9	11.1	ADD1, NR3C2, CYP11B1, CYP11B2, REN
48	spironolactone32 42 34 9 9	12.0	REN, CYP11B2, CYP11B1, NR3C1, NR3C2, POMC
49	potassium32 9 18 9	10.4	ADD1, WNK4, NR3C2, CYP11B1, CYP11B2, KCNJ5
50	sodium32 18	8.4	ADD1, WNK4, NR3C2, CYP11B1, CYP11B2, KCNJ5

Biological processes related to glucocorticoid-remediable aldosteronism according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	aldosterone biosynthetic process	GO:032342	10.0	CYP11B2, CYP11B1
2	cortisol biosynthetic process	GO:034651	9.9	CYP11B2, CYP11B1
3	cellular response to potassium ion	GO:035865	9.8	CYP11B1, CYP11B2
4	cellular response to hormone stimulus	GO:032870	9.8	CYP11B2, CYP11B1
5	mineralocorticoid biosynthetic process	GO:006705	9.7	CYP11B2, CYP11B1
6	C21-steroid hormone biosynthetic process	GO:006700	9.5	CYP11B2, CYP11B1
7	regulation of blood pressure	GO:008217	9.4	REN, CYP11B1, POMC

Molecular functions related to glucocorticoid-remediable aldosteronism according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	steroid 11-beta-monooxygenase activity	GO:004507	9.5	CYP11B2, CYP11B1
2	steroid binding	GO:005496	9.5	NR3C1, NR3C2