MCID: ACT087
MIFTS: 42

Acth Deficiency malady

Genetic diseases (common), Endocrine diseases categories

Aliases & Classifications for Acth Deficiency

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Sources:
20GeneTests, 43Novoseek, 22GTR, 60UMLS
See all sources

Acth Deficiency, Aliases & Descriptions:

Name: Acth Deficiency 20 43 22
 
Adrenocorticotropic Hormone Deficiency 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Endocrine diseases


Summaries for Acth Deficiency

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MalaCards based summary: Acth Deficiency, also known as adrenocorticotropic hormone deficiency, is related to adrenocorticotropic hormone deficiency and thyroiditis. An important gene associated with Acth Deficiency is TBX19 (T-box 19), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and Syndecan-3-mediated signaling events. The compounds acth 1-24 and 11 deoxycortisol have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and thyroid, and related mouse phenotypes are liver/biliary system and hearing/vestibular/ear.

Related Diseases for Acth Deficiency

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Diseases related to Acth Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1adrenocorticotropic hormone deficiency31.6TBX19
2thyroiditis30.9TRH, POMC
3thyrotoxicosis30.7TRH
4hypoglycemia30.4TRH, CRH, GH1, PRL, POMC
5addison's disease30.2POMC, PCSK1, CRH
6hyperprolactinemia30.2POMC, PRL, GH1, CRH, TRH
7cushing's syndrome30.1POMC, GH1, CRH
8dwarfism30.0POU1F1, PROP1, GH1
9acromegaly29.4HSD11B1, POMC, PRL, GH1, CRH, TRH
10hypothyroidism29.3LHX3, TRH, PCSK1, GH1, PROP1, PRL
11hypopituitarism28.6POMC, HSD11B1, LHX3, POU1F1, HESX1, TRH
12obesity28.5HSD11B1, MC4R, POMC, HESX1, PROP1, GH1
13major depressive disorder and accelerated response to antidepressant drug treatment10.5CRH
14adrenal carcinoma10.5POMC
15euthyroid sick syndrome10.5TRH
16hyperthyroxinemia10.5TRH
17pituitary carcinoma10.4PRL, POMC
18diabetes insipidus, neurohypophyseal10.4PRL, POMC
19west syndrome10.4POMC, CRH
20panic disorder10.4POMC, CRH
21exophthalmos10.4TRH, PITX1
22chronic fatigue syndrome10.4CRH, POMC
23endogenous depression10.4CRH, TRH
24congenital adrenal hyperplasia10.3POMC, CRH
25sheehan syndrome10.3POMC, PRL, CRH
26nelson syndrome10.3POMC, PRL, CRH
27late-onset isolated acth deficiency10.3
28melancholia10.3TRH, CRH, POMC
29pituitary apoplexy10.3POMC, PRL, TRH
30empty sella syndrome10.3POMC, PRL, TRH
31diabetes insipidus10.3POMC, PRL, TRH
32neuroendocrine tumor10.3POMC, PRL, TRH
33primary hyperoxaluria10.3TRH, CRH, POMC
34eating disorder10.3CRH, MC4R
35mood disorder10.3POMC, CRH, TRH
36alcohol dependence10.3POMC, CRH, TRH
37adrenocortical carcinoma10.2CRH, POMC
38klinefelter's syndrome10.2TRH, PROP1, PRL
39adrenal adenoma10.2CRH, POMC, HSD11B1
40adrenal cortical adenoma10.2POMC, CRH
41amenorrhea10.2POMC, PRL, CRH, TRH
42chromophobe adenoma10.2PRL, GH1
43mccune-albright syndrome, somatic, mosaic10.2PRL, GH1
44pituitary gland disease10.2PRL, GH1
45pituitary gigantism10.2PRL, GH1
46hepatitis10.2
47hypoaldosteronism10.2
48mental retardation10.2
49gigantism10.1GH1, PRL
50hypertension, essential10.1HSD11B1, POMC, CRH

Graphical network of the top 20 diseases related to Acth Deficiency:



Diseases related to acth deficiency

Symptoms for Acth Deficiency

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Drugs & Therapeutics for Acth Deficiency

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Drug clinical trials:

Search ClinicalTrials for Acth Deficiency

Search NIH Clinical Center for Acth Deficiency

Genetic Tests for Acth Deficiency

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Genetic tests related to Acth Deficiency:

id Genetic test Affiliating Genes
1 Acth Deficiency20 22 TBX19

Anatomical Context for Acth Deficiency

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MalaCards organs/tissues related to Acth Deficiency:

31
Pituitary, Testes, Thyroid, Bone, Brain, Hypothalamus

Animal Models for Acth Deficiency or affiliated genes

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Publications for Acth Deficiency

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Articles related to Acth Deficiency:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Adult idiopathic isolated ACTH deficiency: a short series and literature review. (24463998)
2013
2
Repeated hypoglycemia caused by the overproduction of anti-insulin antibodies and isolated ACTH deficiency in a type 2 diabetic patient receiving insulin therapy. (23349155)
2013
3
Sertraline alleviated osmophobia caused by partial hypopituitarism with isolated ACTH deficiency. (22902256)
2013
4
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. (22170728)
2012
5
A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature. (21249393)
2011
6
ACTH deficiency and PGI(2) therapy in chronic thromboembolic pulmonary hypertension. (21093079)
2011
7
Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature. (21760815)
2011
8
Focal segmental glomerulosclerosis in a patient with isolated ACTH deficiency and reversible hypothyroidism. (19809785)
2010
9
A Case of Transient ACTH Deficiency Associated with Polymyalgia Rheumatica. (23946678)
2010
10
ACTH deficiency, higher doses of hydrocortisone replacement, and radiotherapy are independent predictors of mortality in patients with acromegaly. (19808848)
2009
11
A case of post-traumatic isolated ACTH deficiency with spontaneous recovery 9 months after the event. (16421141)
2006
12
A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations. (15666849)
2004
13
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. (15476446)
2004
14
A trial of intranasal ACTH(1-24) administration to a patient with isolated ACTH deficiency. (14737049)
2004
15
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. (12651888)
2003
16
Effect of ACTH on renal excretion of purine bases in a patient with isolated ACTH deficiency. (10727684)
2000
17
Hashimoto's encephalopathy associated with isolated ACTH deficiency and hyponatremia: a case report. (10552249)
1999
18
Dual facets of hyponatraemia and arginine vasopressin in patients with ACTH deficiency. (10209567)
1998
19
Isolated ACTH deficiency. (9568810)
1998
20
Simultaneously found transient hypothyroidism due to Hashimoto's thyroiditis, autoimmune hepatitis and isolated ACTH deficiency after cessation of glucocorticoid administration. (9279524)
1997
21
Delayed diagnosis of isolated ACTH deficiency in a patient with diabetes mellitus. (8973892)
1996
22
A case of isolated ACTH deficiency with hyporeninemic hypoaldosteronism. (8773360)
1996
23
An adult case of neurohypophyseal ectopy presenting ACTH deficiency and partial GH deficiency. (7599703)
1995
24
Congenital adrenal hypoplasia due to isolated familial ACTH deficiency. (8008696)
1994
25
Isolated congenital ACTH deficiency: a cleavage enzyme defect? (8187323)
1994
26
Isolated congenital ACTH deficiency: a cleavage enzyme defect? (8222301)
1993
27
Isolated ACTH deficiency: enzyme defect or chimaeric enzyme? (8222302)
1993
28
A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma]. (1337025)
1992
29
Hyperresponsiveness of TSH and prolactin and impaired responsiveness of GH in Japanese patients with isolated ACTH deficiency]. (1333997)
1992
30
Isolated ACTH deficiency with absent response to corticotrophin-releasing factor--41. Evidence for a primary pituitary defect. (1852085)
1991
31
Isolated ACTH deficiency associated with transient thyrotoxicosis and hyperprolactinemia. (2555145)
1989
32
ACTH deficiency: problems in recognition and diagnosis. (2542852)
1989
33
Adrenocorticotrophin (ACTH) deficiency undetected by standard dynamic tests of the hypothalamic-pituitary-adrenal axis. (2844448)
1988
34
Isolated ACTH deficiency and type 1 diabetes mellitus. (2852196)
1988
35
Development of isolated ACTH deficiency in a man with type I diabetes mellitus. (2846679)
1988
36
ACTH deficiency: hypothalamic or pituitary in origin? (3037692)
1987
37
Isolated ACTH deficiency contributing to frequent hypoglycemia in type I diabetes. (2988889)
1985
38
Isolated ACTH deficiency with transitory GH deficiency. (2985687)
1985
39
Isolated ACTH deficiency. (2999619)
1985
40
Isolated ACTH deficiency accompanied by 'primary hypothyroidism' and hyperprolactinaemia. (6318488)
1983
41
Mental status in a patient with isolated ACTH deficiency. (6301564)
1983
42
Isolated adrenocorticotropic hormone (ACTH) deficiency. (6297233)
1982
43
Isolated ACTH deficiency confirmed by ACTH radioimmunoassay. (6246162)
1980
44
Low urinary estriol during pregnancy caused by isolated fetal ACTH-deficiency. (232354)
1979
45
Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy. (210721)
1978
46
Co-existent primary hypothyroidism and isolated ACTH deficiency. (180738)
1976
47
Isolated ACTH deficiency and pregnancy. (186733)
1976
48
Familial moniliasis, defective delayed hypersensitivity, and ACTH deficiency. (4338384)
1972
49
Diagnostic procedures in hypopituitary dwarfism. II. Evaluation of ACTH deficiency: metopirone test, the daily oscillation of plasma cortisol and its response to exogenous ACTH, lysin-vasopressin, insulin-induced hypoglycemia and general anesthesia. (4322183)
1970
50
Coexistent diabetes mellitus and isolated ACTH deficiency: report of a case. (4297249)
1968

Variations for Acth Deficiency

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Clinvar genetic disease variations for Acth Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CRHNM_000756.2(CRH): c.-669C> Asingle nucleotide variantPathogenicrs12721510GRCh37Chr 8, 67091182: 67091182
2CRHNM_000756.2(CRH): c.-365G> Csingle nucleotide variantPathogenicrs72556399GRCh37Chr 8, 67090878: 67090878
3TBX19NM_005149.2(TBX19): c.856C> T (p.Arg286Ter)single nucleotide variantPathogenicrs74315376GRCh37Chr 1, 168274374: 168274374
4TBX19NM_005149.2(TBX19): c.383C> T (p.Ser128Phe)single nucleotide variantPathogenicrs74315377GRCh37Chr 1, 168260577: 168260577
5TBX19NM_005149.2(TBX19): c.257T> G (p.Met86Arg)single nucleotide variantPathogenicrs74315378GRCh37Chr 1, 168260451: 168260451

Expression for genes affiliated with Acth Deficiency

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Search GEO for disease gene expression data for Acth Deficiency.

Pathways for genes affiliated with Acth Deficiency

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Pathways related to Acth Deficiency according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0POMC, CRH
29.9POMC, MC4R
3
Show member pathways
9.8POMC, HSD11B1
49.8HSD11B1, PRL
59.8TBX19, CRH, POMC
6
Show member pathways
9.7POMC, TRH
79.6MC4R, POMC, CRH
89.6GH1, PRL
9
Show member pathways
9.6GH1, PRL
109.6PRL, POU1F1, POMC
11
Show member pathways
9.4CRH, GH1, POMC
12
Show member pathways
9.1POMC, LHX3, PITX1
13
Show member pathways
9.1POMC, GH1, PCSK1
14
Show member pathways
8.2TRH, CRH, GH1, PRL, POMC, MC4R
15
Show member pathways
8.2MC4R, POMC, PRL, GH1, CRH, TRH

Compounds for genes affiliated with Acth Deficiency

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Compounds related to Acth Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 104)
idCompoundScoreTop Affiliating Genes
1acth 1-244310.0CRH, PRL, POMC
211 deoxycortisol4310.0CRH, PRL, POMC
3alpha msh439.9CRH, POMC, MC4R
4ptx1439.9PITX1, POU1F1, POMC
5mirtazapine43 49 1211.7POMC, PRL, CRH
6fenfluramine43 28 1211.6POMC, PRL, CRH, TRH
75-hydroxytryptophan439.5CRH, PRL, GH1
8betamethasone43 1210.5GH1, POMC, CRH
9hexarelin43 2810.5PRL, POMC, GH1, CRH
10naltrexone43 28 49 1212.5POMC, GH1, CRH, PRL
11dehydroepiandrosterone sulfate439.4POMC, GH1, CRH, PRL
12mifepristone43 28 59 1212.4CRH, HSD11B1, PRL, POMC
13ghrp439.3GH1, PRL, TRH
14cortisone43 2410.3HSD11B1, POMC, GH1, CRH
1511beta-hydroxysteroid439.3HSD11B1, POMC, GH1, CRH
16clomiphene citrate439.2GH1, CRH, PRL
17pyridostigmine43 1210.2TRH, CRH, GH1, PRL
18sulpiride43 28 1211.2TRH, GH1, PRL, CRH
19metyrapone43 59 1211.2CRH, POMC, HSD11B1
20cocaine43 1210.2TRH, CRH, POMC, MC4R, PRL
21haloperidol43 49 28 2 1213.2MC4R, POMC, PRL, TRH
22opiate439.2PRL, GH1, CRH, MC4R, POMC
23clonidine43 49 28 1212.1PRL, GH1, POMC, TRH
24metoclopramide43 49 1211.1GH1, PRL, TRH
25dhea439.0POMC, PRL, GH1, CRH, HSD11B1
26androstenedione43 2410.0GH1, PRL, POMC, HSD11B1, CRH
27naloxone43 28 49 1212.0CRH, TRH, GH1, PRL, POMC
28octreotide43 59 28 1212.0POMC, PRL, TRH, CRH, GH1
29thyroxine43 249.9CRH, TRH, PRL, GH1, POMC
30bromocriptine43 28 1210.9POMC, POU1F1, TRH, GH1, PRL
31melatonin43 28 59 24 1212.8TRH, GH1, PRL, PCSK1
32triiodothyronine438.7HSD11B1, POMC, PRL, GH1, TRH
33corticosterone43 59 2410.7GH1, HSD11B1, MC4R, POMC, PRL, CRH
34norepinephrine43 24 1210.6GH1, CRH, POMC, TRH, PRL
35hydrocortisone43 2 59 1211.6TRH, GH1, POMC, HSD11B1, PRL, CRH
36estradiol43 24 1210.4CRH, TRH, POMC, HSD11B1, GH1, PRL
37dopamine43 28 24 1211.2CRH, GH1, PRL, POU1F1, POMC, MC4R
38ribonucleic acid438.2PCSK1, PRL, CRH, POU1F1, HSD11B1, POMC
39testosterone43 59 24 1211.2PROP1, GH1, POMC, CRH, PRL, TRH
40alanine438.1CRH, ASS1, GH1, POMC, MC4R, HSD11B1
41steroid438.0CRH, GH1, PROP1, PRL, POU1F1, POMC
42adenylate437.9MC4R, TRH, ASS1, GH1, CRH, PCSK1
43forskolin43 49 129.9HSD11B1, POMC, POU1F1, GH1, PCSK1, CRH
44dexamethasone43 49 28 1210.7PRL, POMC, POU1F1, HSD11B1, ASS1, GH1
45glucose437.7TRH, HSD11B1, GH1, PRL, POMC, MC4R
46progesterone43 28 59 24 1211.7POMC, GH1, PRL, CRH, PCSK1, TRH
47estrogen437.6HSD11B1, PRL, GH1, TRH, POMC, POU1F1
48arginine437.4TRH, GH1, MC4R, CRH, PCSK1, PRL
49gnrh436.8PROP1, GH1, PCSK1, CRH, TRH, PRL
50acth436.5PROP1, GH1, PCSK1, CRH, TBX19, TRH

GO Terms for genes affiliated with Acth Deficiency

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Cellular components related to Acth Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:00347749.6PCSK1, POMC
2transcription factor complexGO:00056678.8PROP1, LHX3, PITX1
3extracellular regionGO:00055768.6PRL, GH1, CRH, TRH, POMC

Biological processes related to Acth Deficiency according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:000670410.0CRH, HSD11B1
2negative regulation of feeding behaviorGO:020002529.9TRH, MC4R
3peptide hormone processingGO:00164869.9PCSK1, POMC
4response to corticosteroneGO:00514129.8TRH, CRH
5feeding behaviorGO:00076319.8MC4R, CRH
6positive regulation of JAK-STAT cascadeGO:00464279.8PRL, GH1
7JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.7GH1, PRL
8positive regulation of cAMP biosynthetic processGO:00308199.6CRH, MC4R
9positive regulation of multicellular organism growthGO:00400189.5POU1F1, GH1
10pituitary gland developmentGO:00219839.4TBX19, LHX3, PITX1
11lung developmentGO:00303249.2LHX3, HSD11B1, CRH
12cell-cell signalingGO:00072679.2TRH, PCSK1, POMC
13positive regulation of transcription from RNA polymerase II promoterGO:00459448.7LHX3, POMC, POU1F1, PROP1, TBX19

Molecular functions related to Acth Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:00051849.7TRH, CRH
2prolactin receptor bindingGO:00051489.6GH1, PRL
3hormone activityGO:00051799.2CRH, GH1, PRL, POMC
4sequence-specific DNA bindingGO:00435658.4HESX1, POU1F1, LHX3, PITX1
5sequence-specific DNA binding transcription factor activityGO:00037008.0PITX1, LHX3, POU1F1, HESX1, PROP1, TBX19

Products for genes affiliated with Acth Deficiency

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  • Antibodies
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Sources for Acth Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet