MCID: ACT087
MIFTS: 49

Acth Deficiency malady

Genetic diseases (common), Endocrine diseases categories
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Summaries for Acth Deficiency

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MalaCards based summary: Acth Deficiency, also known as adrenocorticotropic hormone deficiency, is related to isolated acth 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.

Aliases & Classifications for Acth Deficiency

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Sources:
20GeneTests, 22GTR, 44Novoseek, 62UMLS
See all sources

Acth Deficiency, Aliases & Descriptions:

Name: Acth Deficiency 20 22 44
 
Adrenocorticotropic Hormone Deficiency 62


Classifications:

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


Related Diseases for Acth Deficiency

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

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1isolated acth deficiency32.3TBX19
2thyroiditis30.9TRH, POMC
3thyrotoxicosis30.7TRH
4hypertension30.4HSD11B1, POMC, CRH
5hypoglycemia30.4CRH, PRL, POMC, TRH, GH1
6acromegaly30.2GH1, PRL
7addison's disease30.2CRH, POMC, PCSK1
8hyperprolactinemia30.2POMC, PRL, GH1, CRH, TRH
9cushing's syndrome30.1POMC, CRH, GH1
10diabetes mellitus30.1HSD11B1, GH1, MC4R, POMC
11dwarfism30.0POU1F1, PROP1, GH1
12hypothyroidism29.3TRH, PCSK1, LHX3, POMC, POU1F1, HESX1
13panhypopituitarism29.2HESX1, PRL, PROP1, POMC, POU1F1, GH1
14hypopituitarism28.7HSD11B1, POU1F1, POMC, HESX1, PRL, PROP1
15obesity28.5POMC, TRH, HESX1, MC4R, PROP1, GH1
16seasonal affective disorder10.5CRH
17adrenal carcinoma10.5POMC
18euthyroid sick syndrome10.5TRH
19hyperthyroxinemia10.5TRH
20pituitary carcinoma10.4PRL, POMC
21infantile epileptic encephalopathy10.4CRH, POMC
22neurogenic diabetes insipidus10.4PRL, POMC
23panic disorder10.4CRH, POMC
24exophthalmos10.4PITX1, TRH
25chronic fatigue syndrome10.4CRH, POMC
26endogenous depression10.4TRH, CRH
27congenital adrenal hyperplasia10.3POMC, CRH
28sheehan syndrome10.3CRH, PRL, POMC
29nelson syndrome10.3POMC, CRH, PRL
30melancholia10.3CRH, POMC, TRH
31pituitary apoplexy10.3TRH, POMC, PRL
32empty sella syndrome10.3PRL, TRH, POMC
33diabetes insipidus10.3TRH, POMC, PRL
34neuroendocrine tumor10.3PRL, POMC, TRH
35eating disorder10.3MC4R, CRH
36primary hyperoxaluria10.3TRH, CRH, POMC
37mood disorder10.3POMC, CRH, TRH
38adrenocortical carcinoma10.3CRH, POMC
39late-onset isolated acth deficiency10.2
40klinefelter's syndrome10.2TRH, PRL, PROP1
41adrenal adenoma10.2CRH, POMC, HSD11B1
42adrenal cortical adenoma10.2POMC, CRH
43amenorrhea10.2POMC, CRH, PRL, TRH
44chromophobe adenoma10.2PRL, GH1
45pituitary gland disease10.2PRL, GH1
46mccune albright syndrome10.2PRL, GH1
47hepatitis10.2
48hypoaldosteronism10.2
49mental retardation10.2
50adrenocorticotropic hormone deficiency10.2

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:

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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:

32
Pituitary, Testes, Thyroid, Bone, Brain

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 116)
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
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
5
ACTH deficiency and PGI(2) therapy in chronic thromboembolic pulmonary hypertension. (21093079)
2011
6
Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature. (21760815)
2011
7
Focal segmental glomerulosclerosis in a patient with isolated ACTH deficiency and reversible hypothyroidism. (19809785)
2010
8
A Case of Transient ACTH Deficiency Associated with Polymyalgia Rheumatica. (23946678)
2010
9
ACTH deficiency, higher doses of hydrocortisone replacement, and radiotherapy are independent predictors of mortality in patients with acromegaly. (19808848)
2009
10
A case of post-traumatic isolated ACTH deficiency with spontaneous recovery 9 months after the event. (16421141)
2006
11
A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations. (15666849)
2004
12
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. (15476446)
2004
13
A trial of intranasal ACTH(1-24) administration to a patient with isolated ACTH deficiency. (14737049)
2004
14
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. (12651888)
2003
15
Effect of ACTH on renal excretion of purine bases in a patient with isolated ACTH deficiency. (10727684)
2000
16
Hashimoto's encephalopathy associated with isolated ACTH deficiency and hyponatremia: a case report. (10552249)
1999
17
Dual facets of hyponatraemia and arginine vasopressin in patients with ACTH deficiency. (10209567)
1998
18
Isolated ACTH deficiency. (9568810)
1998
19
Simultaneously found transient hypothyroidism due to Hashimoto's thyroiditis, autoimmune hepatitis and isolated ACTH deficiency after cessation of glucocorticoid administration. (9279524)
1997
20
Delayed diagnosis of isolated ACTH deficiency in a patient with diabetes mellitus. (8973892)
1996
21
A case of isolated ACTH deficiency with hyporeninemic hypoaldosteronism. (8773360)
1996
22
An adult case of neurohypophyseal ectopy presenting ACTH deficiency and partial GH deficiency. (7599703)
1995
23
Congenital adrenal hypoplasia due to isolated familial ACTH deficiency. (8008696)
1994
24
Isolated congenital ACTH deficiency: a cleavage enzyme defect? (8187323)
1994
25
Isolated congenital ACTH deficiency: a cleavage enzyme defect? (8222301)
1993
26
Isolated ACTH deficiency: enzyme defect or chimaeric enzyme? (8222302)
1993
27
A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma]. (1337025)
1992
28
Hyperresponsiveness of TSH and prolactin and impaired responsiveness of GH in Japanese patients with isolated ACTH deficiency]. (1333997)
1992
29
Isolated ACTH deficiency with absent response to corticotrophin-releasing factor--41. Evidence for a primary pituitary defect. (1852085)
1991
30
Isolated ACTH deficiency associated with transient thyrotoxicosis and hyperprolactinemia. (2555145)
1989
31
ACTH deficiency: problems in recognition and diagnosis. (2542852)
1989
32
Adrenocorticotrophin (ACTH) deficiency undetected by standard dynamic tests of the hypothalamic-pituitary-adrenal axis. (2844448)
1988
33
Isolated ACTH deficiency and type 1 diabetes mellitus. (2852196)
1988
34
Development of isolated ACTH deficiency in a man with type I diabetes mellitus. (2846679)
1988
35
Gynecomastia associated with isolated ACTH deficiency. (3035001)
1987
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 Name 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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Expression patterns in normal tissues for genes affiliated with Acth Deficiency

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/GeneDecks:

(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/GeneDecks:

(show top 50)    (show all 104)
idCompoundScoreTop Affiliating Genes
1acth 1-244410.0CRH, PRL, POMC
211 deoxycortisol4410.0CRH, PRL, POMC
3alpha msh449.9CRH, POMC, MC4R
4ptx1449.9PITX1, POU1F1, POMC
5mirtazapine44 50 1111.7POMC, PRL, CRH
6fenfluramine44 28 1111.6POMC, PRL, CRH, TRH
75-hydroxytryptophan449.5CRH, PRL, GH1
8betamethasone44 1110.5GH1, POMC, CRH
9hexarelin44 2810.5PRL, POMC, GH1, CRH
10naltrexone44 28 50 1112.5POMC, GH1, CRH, PRL
11dehydroepiandrosterone sulfate449.4POMC, GH1, CRH, PRL
12mifepristone44 28 61 1112.4CRH, HSD11B1, PRL, POMC
13ghrp449.3GH1, PRL, TRH
14cortisone44 2410.3HSD11B1, POMC, GH1, CRH
1511beta-hydroxysteroid449.3HSD11B1, POMC, GH1, CRH
16clomiphene citrate449.2GH1, CRH, PRL
17pyridostigmine44 1110.2TRH, CRH, GH1, PRL
18sulpiride44 28 1111.2TRH, GH1, PRL, CRH
19metyrapone44 61 1111.2CRH, POMC, HSD11B1
20cocaine44 1110.2TRH, CRH, POMC, MC4R, PRL
21haloperidol44 50 28 2 1113.2MC4R, POMC, PRL, TRH
22opiate449.2PRL, GH1, CRH, MC4R, POMC
23clonidine44 50 28 1112.1PRL, GH1, POMC, TRH
24metoclopramide44 50 1111.1GH1, PRL, TRH
25dhea449.0POMC, PRL, GH1, CRH, HSD11B1
26androstenedione44 2410.0GH1, PRL, POMC, HSD11B1, CRH
27naloxone44 28 50 1112.0CRH, TRH, GH1, PRL, POMC
28octreotide44 61 28 1112.0POMC, PRL, TRH, CRH, GH1
29thyroxine44 249.9CRH, TRH, PRL, GH1, POMC
30bromocriptine44 28 1110.9POMC, POU1F1, TRH, GH1, PRL
31melatonin44 28 61 24 1112.8TRH, GH1, PRL, PCSK1
32triiodothyronine448.7HSD11B1, POMC, PRL, GH1, TRH
33corticosterone44 61 2410.7GH1, HSD11B1, MC4R, POMC, PRL, CRH
34norepinephrine44 24 1110.6GH1, CRH, POMC, TRH, PRL
35hydrocortisone44 2 61 1111.6TRH, GH1, POMC, HSD11B1, PRL, CRH
36estradiol44 24 1110.4CRH, TRH, POMC, HSD11B1, GH1, PRL
37dopamine44 28 24 1111.2CRH, GH1, PRL, POU1F1, POMC, MC4R
38ribonucleic acid448.2PCSK1, PRL, CRH, POU1F1, HSD11B1, POMC
39testosterone44 61 24 1111.2PROP1, GH1, POMC, CRH, PRL, TRH
40alanine448.1CRH, ASS1, GH1, POMC, MC4R, HSD11B1
41steroid448.0CRH, GH1, PROP1, PRL, POU1F1, POMC
42adenylate447.9MC4R, TRH, ASS1, GH1, CRH, PCSK1
43forskolin44 50 119.9HSD11B1, POMC, POU1F1, GH1, PCSK1, CRH
44dexamethasone44 50 28 1110.7PRL, POMC, POU1F1, HSD11B1, ASS1, GH1
45glucose447.7TRH, HSD11B1, GH1, PRL, POMC, MC4R
46progesterone44 28 61 24 1111.7POMC, GH1, PRL, CRH, PCSK1, TRH
47estrogen447.6HSD11B1, PRL, GH1, TRH, POMC, POU1F1
48arginine447.4TRH, GH1, MC4R, CRH, PCSK1, PRL
49gnrh446.8PROP1, GH1, PCSK1, CRH, TRH, PRL
50acth446.5PROP1, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:0347749.6PCSK1, POMC
2transcription factor complexGO:0056678.8PROP1, LHX3, PITX1
3extracellular regionGO:0055768.6PRL, GH1, CRH, TRH, POMC

Biological processes related to Acth Deficiency according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:00670410.0CRH, HSD11B1
2negative regulation of feeding behaviorGO:20002529.9TRH, MC4R
3peptide hormone processingGO:0164869.9PCSK1, POMC
4response to corticosteroneGO:0514129.8TRH, CRH
5feeding behaviorGO:0076319.8MC4R, CRH
6positive regulation of JAK-STAT cascadeGO:0464279.8PRL, GH1
7JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.7GH1, PRL
8positive regulation of cAMP biosynthetic processGO:0308199.6CRH, MC4R
9positive regulation of multicellular organism growthGO:0400189.5POU1F1, GH1
10pituitary gland developmentGO:0219839.4TBX19, LHX3, PITX1
11lung developmentGO:0303249.2LHX3, HSD11B1, CRH
12cell-cell signalingGO:0072679.2TRH, PCSK1, POMC
13positive regulation of transcription from RNA polymerase II promoterGO:0459448.7LHX3, POMC, POU1F1, PROP1, TBX19

Molecular functions related to Acth Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.7TRH, CRH
2prolactin receptor bindingGO:0051489.6GH1, PRL
3hormone activityGO:0051799.2CRH, GH1, PRL, POMC
4sequence-specific DNA bindingGO:0435658.4HESX1, POU1F1, LHX3, PITX1
5sequence-specific DNA binding transcription factor activityGO:0037008.0PITX1, LHX3, POU1F1, HESX1, PROP1, TBX19

Products for genes affiliated with Acth Deficiency

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  • Antibodies
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  • Lysates

Sources for Acth Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet