Isolated Acth Deficiency malady

MalaCards: Isolated Acth Deficiency, also known as isolated adrenocorticotropic hormone deficiency, is related to adrenocorticotropic hormone deficiency and acth deficiency. An important gene associated with Isolated Acth Deficiency is TBX19 (T-box 19), and among its related pathways are Development_Leptin signaling via JAK/STAT and MAPK cascades and Development Leptin signaling via JAK/STAT and MAPK cascades. The compounds flesinoxan and ptx1 have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related mouse phenotypes are integument and homeostasis/metabolism.

isolated acth deficiency 30 isolated adrenocorticotropic hormone deficiency 30 congenital isolated acth deficiency 30

isolated corticotropin deficiency 43 acth deficiency, isolated 30

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

(show top 50)    (show all 142)

id	Related Disease	Score	Top Affiliating Genes
1	adrenocorticotropic hormone deficiency	33.1	TBX19, CRH, POMC
2	acth deficiency	29.8	ASS1, POMC, PRL, PITX1, CRH, TBX19
3	growth hormone deficiency	29.3	POMC, PRL, CRH
4	thyroiditis	26.4	TRH, TBX19, CRH, PRL, POMC
5	exophthalmos	13.0	PITX1, PRL
6	generalized resistance to thyroid hormone	12.9	TRH, PRL
7	pseudohypoparathyroidism type ia	12.9	TRH, PRL
8	hyperthyroxinemia	12.9	TRH, PRL
9	myelomeningocele	12.9	TRH, PRL
10	spinocerebellar degeneration	12.9	TRH, PRL
11	borderline personality disorder	12.9	TRH, PRL
12	pseudohypoparathyroidism	12.8	PRL, TRH
13	endogenous depression	12.8	CRH, TRH
14	hypothalamic disease	12.8	PRL, CRH
15	mccune albright syndrome	12.8	TRH, PRL
16	delayed puberty	12.8	TRH, PRL
17	postpartum depression	12.8	CRH, PRL
18	personality disorder	12.7	PRL, CRH
19	back pain	12.7	CRH, PRL
20	lymphocytic hypophysitis	12.6	POMC, PRL
21	neurogenic diabetes insipidus	12.6	PRL, POMC
22	thyrotropin deficiency, isolated	12.6	POMC, PRL
23	euthyroid sick syndrome	12.6	TRH, POMC
24	waardenburg's syndrome	12.6	POMC, ASS1
25	paranoid schizophrenia	12.6	PRL, POMC
26	panhypopituitarism	12.6	PRL, POMC
27	familial male-limited precocious puberty	12.6	POMC, PRL
28	carney complex	12.6	PRL, POMC
29	functioning pituitary adenoma	12.5	POMC, PRL
30	vulvar cancer	12.5	POMC, PRL
31	gonadal disease	12.5	POMC, CRH
32	cushing's syndrome	12.5	CRH, POMC
33	adrenocortical insufficiency	12.5	POMC, CRH
34	hypoadrenalism	12.5	CRH, POMC
35	infantile epileptic encephalopathy	12.5	CRH, POMC
36	panic disorder	12.5	CRH, POMC
37	pseudohermaphroditism	12.5	POMC, PRL
38	cocaine abuse	12.5	POMC, PRL
39	abcb11-related intrahepatic cholestasis	12.5	CRH, POMC
40	gynecomastia	12.5	PRL, POMC
41	adrenocortical hyperplasia	12.5	POMC, CRH
42	familial medullary thyroid carcinoma	12.5	CRH, POMC
43	anxiety disorder	12.4	CRH, PRL
44	21-hydroxylase deficiency	12.4	POMC, CRH
45	ileus	12.4	POMC, CRH
46	adrenocortical carcinoma	12.4	CRH, POMC
47	allergic encephalomyelitis	12.4	CRH, POMC
48	anovulation	12.3	PRL, CRH, TRH
49	restless legs syndrome	12.3	PRL, POMC
50	letterer-siwe disease	12.3	PRL, CRH, TRH

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to isolated acth deficiency:

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MGI Mouse Phenotypes related to isolated acth deficiency:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument phenotype	MP:0010771	7.4	ASS1, TBX19, PRL, CRH, POMC
2	homeostasis/metabolism phenotype	MP:0005376	7.2	PRL, CRH, TBX19, TRH, ASS1, POMC
3	endocrine/exocrine gland phenotype	MP:0005379	7.1	CRH, TBX19, TRH, PRL, POMC, PITX1
4	nervous system phenotype	MP:0003631	6.7	ASS1, POMC, PRL, PITX1, CRH, TBX19

Articles related to isolated acth deficiency:

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	T-box and isolated ACTH deficiency. (11916612)	Asteria C.	2002	TBX19
6	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
7	A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma (1337025)	Ishii A.... Takahashi A.	1992	ASS1
8	Isolated ACTH deficiency. (1660365)	Orme S.M.... Belchetz P.E.	1991	CRH
9	Isolated ACTH deficiency: description of a clinical case (2174182)	Spagnolli W.... Miori R.	1990	POMC, CRH

Genes related to isolated acth deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TBX19	T-box 19	11.0	Publications
2	PITX1	paired-like homeodomain 1	11.0	Publications
3	ASS1	argininosuccinate synthase 1	11.0	Publications
4	TRH	thyrotropin-releasing hormone	11.0	Publications
5	POMC	proopiomelanocortin	11.0	Publications
6	CRH	corticotropin releasing hormone	11.0	Publications
7	PRL	prolactin	11.0	Publications

Pathways related to isolated acth deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Development_Leptin signaling via JAK/STAT and MAPK cascades41	10.0	TRH
2	Development Leptin signaling via JAK/STAT and MAPK cascades10	9.0	TRH, POMC
3	Glucocorticoid Pathway (HPA Axis), Pharmacodynamics34	8.9	CRH, POMC

Compounds related to isolated acth deficiency according to GeneDecks:

(show top 50)    (show all 77)

id	Compound	Score	Top Affiliating Genes
1	flesinoxan32	9.7	POMC, PRL
2	ptx132	9.7	POMC, PITX1
3	ghrp32	9.7	TRH, PRL
4	ipsapirone32	9.6	PRL, POMC
5	proliferin32	9.5	PRL, CRH
6	hcrh32	9.4	CRH, POMC
7	pitressin32	9.4	CRH, POMC
8	antalarmin32	9.4	CRH, POMC
9	bromocriptine32 9 9	11.2	PRL, TRH, POMC
10	mhpg32	9.2	CRH, PRL
11	clonidine32 9 9	11.2	PRL, POMC, TRH
12	alpha msh32	9.2	CRH, POMC
13	allopregnanolone32	9.1	POMC, CRH
14	triiodothyronine32	9.1	PRL, TRH, POMC
15	5-hydroxytryptophan32	9.1	CRH, PRL
16	domperidone32 9 9	11.1	PRL, TRH
17	haloperidol32 34 9 9	12.1	PRL, POMC, TRH
18	pyridostigmine32 9 9	11.0	TRH, CRH, PRL
19	sulpiride32 9 9	11.0	TRH, PRL, CRH
20	topiramate32 42 9 18 9	13.0	CRH, POMC
21	acth 1-2432	8.9	PRL, POMC, CRH
22	11 deoxycortisol32	8.9	PRL, CRH, POMC
23	hexarelin32	8.9	CRH, PRL, POMC
24	mirtazapine32 34 9 9	11.9	POMC, CRH, PRL
25	naltrexone32 34 9 9	11.9	POMC, CRH, PRL
26	17-hydroxyprogesterone32 18	9.9	CRH, POMC, PRL
27	carbamazepine32 34 9 9	11.9	POMC, PRL, CRH
28	dehydroepiandrosterone sulfate32	8.9	POMC, CRH, PRL
29	diazepam32 34 9 9	11.9	POMC, CRH, TRH
30	opiate32	8.9	CRH, PRL, POMC
31	dhea32	8.9	POMC, PRL, CRH
32	androstenedione32 18	9.8	CRH, PRL, POMC
33	corticosterone32 18	9.8	PRL, CRH, POMC
34	mifepristone32 42 9 9	11.8	POMC, PRL, CRH
35	5-hydroxytryptamine32	8.7	POMC, CRH, PRL
36	fenfluramine32 9 9	10.4	TRH, CRH, PRL, POMC
37	naloxone32 34 9 9	11.4	POMC, PRL, CRH, TRH
38	octreotide32 42 9 9	11.4	PRL, TRH, CRH, POMC
39	hydrocortisone32 9 9	10.4	TRH, CRH, PRL, POMC
40	cocaine32 9 9	10.4	TRH, CRH, PRL, POMC
41	thyroxine32 18	9.4	PRL, POMC, CRH, TRH
42	norepinephrine32 9 18 9	11.4	POMC, PRL, CRH, TRH
43	estradiol32 9 18 9	11.3	PRL, CRH, TRH, POMC
44	dopamine32 9 18 9	11.3	PRL, TRH, POMC, CRH
45	adenylate32	8.3	CRH, POMC, TRH, ASS1
46	acth32	8.1	CRH, TBX19, TRH, PRL, POMC
47	gnrh32	8.0	CRH, PITX1, PRL, POMC, TRH
48	dexamethasone32 42 34 9 9	11.9	TRH, ASS1, POMC, CRH, PRL
49	arginine32	7.9	TRH, CRH, ASS1, POMC, PRL
50	progesterone32 42 9 18 9	11.9	POMC, TRH, CRH, PRL

Molecular functions related to isolated acth deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	neuropeptide hormone activity	GO:005184	9.1	TRH, CRH
2	hormone activity	GO:005179	8.2	CRH, PRL, POMC