Acth Deficiency malady

MalaCards: Acth Deficiency, also known as adrenocorticotropic hormone (acth) deficiency (disorder), is related to isolated acth deficiency and adrenocorticotropic hormone deficiency. An important gene associated with Acth Deficiency is TBX19 (T-box 19), and among its related pathways is Glucocorticoid Pathway (HPA Axis), Pharmacodynamics. The compounds acth 1-24 and glucose have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related mouse phenotypes are nervous system and reproductive system.

acth deficiency 7 16 32 adrenocorticotropic hormone (acth) deficiency (disorder) 43

adrenocorticotropic hormone deficiency 16

Diseases related to acth deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 172)

id	Related Disease	Score	Top Affiliating Genes
1	isolated acth deficiency	31.5	PITX1, PRL, POMC, CRH, TBX19, TRH
2	adrenocorticotropic hormone deficiency	29.3	POMC, CRH, TBX19, PCSK1
3	cushing's syndrome	26.9	POMC, CRH, NR3C2, GH1
4	growth hormone deficiency	26.4	POU1F1, POMC, PROP1, PRL, HESX1, CRH
5	hypopituitarism	25.3	POMC, POU1F1, PROP1, HSD11B1, GH1, TRH
6	adrenocortical insufficiency	13.4	POMC, CRH
7	lymphocytic hypophysitis	13.4	PRL, POMC
8	neurogenic diabetes insipidus	13.4	POMC, PRL
9	infantile epileptic encephalopathy	13.4	CRH, POMC
10	panic disorder	13.4	POMC, CRH
11	postpartum depression	13.3	PRL, CRH
12	acth-producing pituitary tumor	13.3	POMC, PCSK1
13	obesity with impaired prohormone processing	13.3	PCSK1, POMC
14	exophthalmos	13.3	PRL, PITX1
15	nelson syndrome	13.3	POMC, PRL, CRH
16	sheehan syndrome	13.3	POMC, PRL, CRH
17	seasonal affective disorder	13.2	CRH, PRL, POMC
18	pituitary carcinoma	13.2	CRH, PRL, POMC
19	polymyalgia rheumatica	13.2	POMC, PRL, CRH
20	cocaine dependence	13.2	POMC, PRL, CRH
21	endogenous depression	13.2	CRH, TRH
22	substance abuse	13.2	POMC, PRL, CRH
23	generalized resistance to thyroid hormone	13.2	PRL, TRH
24	glucocorticoid-remediable aldosteronism	13.1	POMC, NR3C2
25	irritable bowel syndrome	13.1	CRH, PRL, POMC
26	neonatal thyrotoxicosis	13.1	PROP1, TRH
27	hyperthyroxinemia	13.1	PRL, TRH
28	euthyroid sick syndrome	13.1	POMC, TRH
29	conn's syndrome	13.0	POMC, NR3C2
30	adrenocortical hyperplasia	13.0	POMC, CRH
31	abcb11-related intrahepatic cholestasis	13.0	POMC, CRH, NR3C2
32	prolactin producing pituitary tumor	13.0	POMC, PRL, TRH
33	empty sella syndrome	13.0	POMC, PRL, TRH
34	anovulation	13.0	TRH, CRH, PRL
35	myelomeningocele	13.0	TRH, PRL
36	anophthalmia	13.0	POU1F1, PRL, HESX1
37	hypokalemia	12.9	POMC, CRH, NR3C2
38	kallmann syndrome	12.9	PROP1, HESX1, PCSK1
39	gynecomastia	12.9	NR3C2, PRL, POMC
40	borjeson-forssman-lehmann syndrome	12.9	HESX1, PROP1, POU1F1
41	spinocerebellar degeneration	12.9	TRH, PRL
42	anxiety disorder	12.9	PRL, CRH, NR3C2
43	letterer-siwe disease	12.9	TRH, CRH, PRL
44	obsessive-compulsive disorder	12.9	PRL, CRH, TRH
45	chromophobe adenoma	12.9	PRL, GH1
46	tsh producing pituitary tumor	12.9	PRL, GH1
47	mccune albright syndrome	12.9	PRL, GH1
48	pituitary gland disease	12.9	PRL, GH1
49	alcoholism	12.9	POMC, CRH, TRH
50	fetal adenoma	12.8	PRL, GH1

Approved drugs:

Drug clinical trials:

Genetic tests related to acth deficiency:

id	Genetic test	Affiliating Genes
1	Acth Deficiency clinical/research	TBX19

MalaCards organs/tissues related to acth deficiency:

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MGI Mouse Phenotypes related to acth deficiency:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system phenotype	MP:0003631	7.6	PRL, PROP1, POMC, POU1F1, HESX1, PITX1
2	reproductive system phenotype	MP:0005389	7.5	PROP1, PRL, TBX19, GH1, MC4R, PCSK1
3	adipose tissue phenotype	MP:0005375	7.4	POMC, PITX1, GH1, HSD11B1, MC4R, PCSK1
4	behavior/neurological phenotype	MP:0005386	6.6	POMC, PROP1, PRL, CRH, NR3C2, HSD11B1
5	endocrine/exocrine gland phenotype	MP:0005379	6.0	PCSK1, POU1F1, POMC, PROP1, PRL, HESX1
6	growth/size phenotype	MP:0005378	5.9	POU1F1, POMC, PROP1, PITX1, CRH, NR3C2
7	homeostasis/metabolism phenotype	MP:0005376	5.2	CRH, PRL, PROP1, POMC, POU1F1, NR3C2

Articles related to acth deficiency:

(show all 13)

id	Title	Authors	Year	Affiliating Genes
1	A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations. (15666849)	Vallette-Kasic S.... Drouin J.	2004	POMC, TBX19
2	TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. (15476446)	Metherell L.A.... Clark A.J.	2004	TBX19
3	Tpit mutations reveal a new model of pituitary differentiation and account for isolated ACTH deficiency (15525497)	Pulichino A.M.... Drouin J.	2004	PITX1, TBX19
4	A trial of intranasal ACTH(1-24) administration to a patient with isolated ACTH deficiency. (14737049)	Hiroi N.... Miyachi Y.	2004	CRH
5	Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. (12651888)	Pulichino A.M.... Drouin J.	2003	POMC, TBX19
6	Preclinical Cushing's syndrome presenting with isolated adrenocorticotropin (ACTH) deficiency-like manifestations and severe hypoalbuminemia without overt adrenal masses in a patient with Chilaiditi syndrome and mental retardation. (12793711)	Ikeda K.... Hosoya T.	2003	POMC
7	T-box and isolated ACTH deficiency. (11916612)	Asteria C.	2002	TBX19
8	Growth hormone replacement inhibits renal and hepatic 11 beta-hydroxysteroid dehydrogenases in ACTH-deficient patients. (9828916)	Walker B.R.... Padfield P.L.	1998	NR3C2, GH1
9	Isolated congenital ACTH deficiency: a cleavage enzyme defect? (8222301)	Nussey S.S.... Johnstone A.P.	1993	POMC
10	Hyperresponsiveness of TSH and prolactin and impaired responsiveness of GH in Japanese patients with isolated ACTH deficiency (1333997)	Hashimoto K.... Ogasa T.	1992	PRL, TRH
11	A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma (1337025)	Ishii A.... Takahashi A.	1992	ASS1
12	Isolated ACTH deficiency. (1660365)	Orme S.M.... Belchetz P.E.	1991	CRH
13	Isolated ACTH deficiency: description of a clinical case (2174182)	Spagnolli W.... Miori R.	1990	POMC, CRH

Genes related to acth deficiency according to GeneCards:

(show all 15)

id	Symbol	Description	Score	GeneCards Section Context
1	TBX19	T-box 19	11.1	Publications, Summaries
2	CRH	corticotropin releasing hormone	11.0	Publications
3	POMC	proopiomelanocortin	11.0	Publications
4	PRL	prolactin	11.0	Publications
5	PITX1	paired-like homeodomain 1	11.0	Publications
6	HESX1	HESX homeobox 1	11.0
7	PROP1	PROP paired-like homeobox 1	11.0
8	POU1F1	POU class 1 homeobox 1	11.0
9	TRH	thyrotropin-releasing hormone	11.0	Publications
10	ASS1	argininosuccinate synthase 1	11.0	Publications
11	MC4R	melanocortin 4 receptor	11.0
12	PCSK1	proprotein convertase subtilisin/kexin type 1	11.0
13	HSD11B1	hydroxysteroid (11-beta) dehydrogenase 1	11.0
14	GH1	growth hormone 1	11.0	Publications
15	NR3C2	nuclear receptor subfamily 3, group C, member 2	11.0	Publications

Pathways related to acth deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Glucocorticoid Pathway (HPA Axis), Pharmacodynamics34	10.0	CRH, POMC

Compounds related to acth deficiency according to GeneDecks:

(show top 50)    (show all 100)

id	Compound	Score	Top Affiliating Genes
1	acth 1-2432	10.0	PRL, POMC, CRH
2	glucose32	9.8	TRH, PCSK1
3	ptx132	9.8	POU1F1, POMC, PITX1
4	mirtazapine32 34 9 9	12.8	PRL, POMC, CRH
5	fenfluramine32 9 9	11.7	POMC, TRH, PRL, CRH
6	alpha msh32	9.7	CRH, POMC, MC4R
7	testosterone32 9 18 9	12.6	PRL, CRH, PROP1, TRH
8	11 deoxycortisol32	9.6	PRL, POMC, NR3C2, CRH
9	hexarelin32	9.3	POMC, GH1, PRL, CRH
10	5-hydroxytryptophan32	9.3	GH1, CRH, PRL
11	naltrexone32 34 9 9	12.2	GH1, POMC, PRL, CRH
12	metyrapone32 42 9 9	12.2	POMC, HSD11B1, NR3C2, CRH
13	ghrp32	9.2	GH1, TRH, PRL
14	cocaine32 9 9	11.2	CRH, MC4R, TRH, POMC, PRL
15	pyridostigmine32 9 9	11.2	CRH, PRL, TRH, GH1
16	sulpiride32 9 9	11.2	GH1, CRH, PRL, TRH
17	dehydroepiandrosterone sulfate32	9.2	PRL, POMC, GH1, CRH
18	clomiphene citrate32	9.1	GH1, CRH, PRL
19	estradiol32 9 18 9	12.1	CRH, TRH, HSD11B1, POMC, PRL
20	betamethasone32 9 9	11.1	GH1, POMC, CRH
21	clonidine32 9 9	11.0	GH1, TRH, PRL, POMC
22	haloperidol32 34 9 9	11.9	MC4R, TRH, NR3C2, POMC, PRL
23	naloxone32 34 9 9	11.9	CRH, GH1, TRH, PRL, POMC
24	octreotide32 42 9 9	11.9	TRH, PRL, POMC, CRH, GH1
25	mifepristone32 42 9 9	11.9	CRH, PRL, HSD11B1, NR3C2, POMC
26	bromocriptine32 9 9	10.8	POMC, TRH, PRL, POU1F1, GH1
27	opiate32	8.8	GH1, POMC, PRL, CRH, MC4R
28	thyroxine32 18	9.8	CRH, POMC, TRH, GH1, PRL
29	metoclopramide32 9 9	10.7	PRL, TRH, GH1
30	androstenedione32 18	9.6	CRH, PRL, GH1, POMC, HSD11B1
31	melatonin32 42 9 18 9	12.5	TRH, PCSK1, PRL, GH1
32	cortisone32 18	9.5	GH1, HSD11B1, POMC, CRH, NR3C2
33	11beta-hydroxysteroid32	8.4	HSD11B1, NR3C2, GH1, CRH, POMC
34	norepinephrine32 9 18 9	11.3	PRL, GH1, CRH, NR3C2, TRH, POMC
35	dhea32	8.2	HSD11B1, PRL, CRH, NR3C2, POMC, GH1
36	triiodothyronine32	8.0	NR3C2, POMC, TRH, GH1, HSD11B1, PRL
37	hydrocortisone32 9 9	9.8	HSD11B1, POMC, GH1, TRH, NR3C2, CRH
38	gnrh32	7.8	CRH, PITX1, HESX1, PROP1, POMC, TRH
39	corticosterone32 18	8.7	POMC, MC4R, HSD11B1, GH1, NR3C2, CRH
40	adenylate32	7.7	CRH, POMC, GH1, MC4R, PCSK1, TRH
41	forskolin32 42 9 9	10.7	TRH, HSD11B1, GH1, PCSK1, CRH, POMC
42	dopamine32 9 18 9	10.6	POU1F1, POMC, PRL, TRH, GH1, MC4R
43	ribonucleic acid32	7.3	HSD11B1, PCSK1, GH1, NR3C2, CRH, PRL
44	alanine32	7.1	POU1F1, POMC, ASS1, HSD11B1, CRH, GH1
45	steroid32	7.0	MC4R, PRL, GH1, NR3C2, PROP1, CRH
46	dexamethasone32 42 34 9 9	11.0	POMC, PRL, CRH, NR3C2, TRH, GH1
47	progesterone32 42 9 18 9	10.9	HSD11B1, NR3C2, POU1F1, POMC, PRL, CRH
48	estrogen32	6.9	CRH, HSD11B1, POMC, POU1F1, PRL, PCSK1
49	arginine32	6.7	PCSK1, ASS1, MC4R, GH1, TRH, CRH
50	acth32	5.6	POMC, POU1F1, PROP1, GH1, HESX1, CRH

Cellular components related to acth deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	secretory granule	GO:030141	9.3	PCSK1, TRH, POMC

Biological processes related to acth deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	peptide hormone processing	GO:016486	9.7	PCSK1, POMC
2	glucocorticoid biosynthetic process	GO:006704	9.5	HSD11B1, CRH
3	positive regulation of JAK-STAT cascade	GO:046427	9.1	GH1, PRL

Molecular functions related to acth deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	prolactin receptor binding	GO:005148	9.1	GH1, PRL
2	hormone activity	GO:005179	8.8	GH1, CRH, PRL, POMC
3	sequence-specific DNA binding transcription factor activity	GO:003700	8.5	PROP1, HESX1, PITX1, NR3C2, TBX19, POU1F1