MCID: ACT087
MIFTS: 48

Acth Deficiency malady

Genetic diseases (common), Endocrine diseases categories

Summaries for Acth Deficiency

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MalaCards: Acth Deficiency, also known as adrenocorticotropic hormone deficiency, is related to isolated acth deficiency and hypoglycemia. 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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21GeneTests, 23GTR, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

acth deficiency 21 23 46
adrenocorticotropic hormone deficiency 63


Related Diseases for Acth Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Acth Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1isolated acth deficiency31.6TBX19
2hypoglycemia30.6TRH, CRH, GH1, PRL, POMC
3thyroiditis30.5TRH, POMC
4hypothyroidism30.4LHX3, TRH, PCSK1, GH1, PROP1, PRL
5hyperprolactinemia30.4POMC, PRL, GH1, CRH, TRH
6diabetes mellitus30.4GH1, POMC, MC4R, HSD11B1
7hypertension30.3HSD11B1, POMC, CRH
8thyrotoxicosis30.1TRH
9acromegaly30.0PRL, GH1
10addison's disease30.0POMC, PCSK1, CRH
11cushing's syndrome30.0POMC, GH1, CRH
12dwarfism30.0POU1F1, PROP1, GH1
13hypopituitarism29.8POMC, HSD11B1, LHX3, POU1F1, HESX1, TRH
14panhypopituitarism29.8GH1, PROP1, PRL, HESX1, POU1F1, POMC
15obesity29.6HSD11B1, MC4R, POMC, HESX1, PROP1, GH1
16late-onset isolated acth deficiency10.2
17hepatitis10.1
18hypoaldosteronism10.1
19mental retardation10.1
20adrenocorticotropic hormone deficiency10.1
21seasonal affective disorder10.1CRH
22adrenal carcinoma10.1POMC
23euthyroid sick syndrome10.1TRH
24hyperthyroxinemia10.1TRH
25pituitary carcinoma10.1PRL, POMC
26infantile epileptic encephalopathy10.1POMC, CRH
27neurogenic diabetes insipidus10.1PRL, POMC
28panic disorder10.1POMC, CRH
29exophthalmos10.1TRH, PITX1
30chronic fatigue syndrome10.1CRH, POMC
31endogenous depression10.1CRH, TRH
32congenital adrenal hyperplasia10.1POMC, CRH
33sheehan syndrome10.1POMC, PRL, CRH
34nelson syndrome10.1POMC, PRL, CRH
35melancholia10.1TRH, CRH, POMC
36pituitary apoplexy10.1POMC, PRL, TRH
37empty sella syndrome10.1POMC, PRL, TRH
38diabetes insipidus10.1POMC, PRL, TRH
39neuroendocrine tumor10.1POMC, PRL, TRH
40eating disorder10.1CRH, MC4R
41primary hyperoxaluria10.1TRH, CRH, POMC
42mood disorder10.1POMC, CRH, TRH
43adrenocortical carcinoma10.1CRH, POMC
44klinefelter's syndrome10.1TRH, PROP1, PRL
45adrenal adenoma10.0POMC, CRH
46amenorrhea10.0POMC, PRL, CRH, TRH
47chromophobe adenoma10.0PRL, GH1
48mccune albright syndrome10.0PRL, GH1
49pituitary gland disease10.0PRL, GH1
50gigantism10.0GH1, PRL

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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Acth Deficiency

Search CenterWatch for Acth Deficiency

Genetic Tests for Acth Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Acth Deficiency:

id Genetic test Affiliating Genes
1 Acth Deficiency21 23 TBX19

Anatomical Context for Acth Deficiency

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34MalaCards
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MalaCards organs/tissues related to Acth Deficiency:

34
Pituitary, Testes, Thyroid, Bone, Brain

Animal Models for Acth Deficiency or affiliated genes

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38MGI
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Publications for Acth Deficiency

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53PubMed
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Articles related to Acth Deficiency:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
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
2
Sertraline alleviated osmophobia caused by partial hypopituitarism with isolated ACTH deficiency. (22902256)
2013
3
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. (22170728)
2012
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Acth Deficiency:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 52PharmGKB, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 54QIAGEN, 31KEGG
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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
89.6PRL, POU1F1, POMC
9
Show member pathways
9.6GH1, PRL
109.6GH1, PRL
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
8.2MC4R, POMC, PRL, GH1, CRH, TRH
15
Show member pathways
8.2TRH, CRH, GH1, PRL, POMC, MC4R

Compounds for genes affiliated with Acth Deficiency

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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 3BitterDB
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Compounds related to Acth Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 104)
idCompoundScoreTop Affiliating Genes
1acth 1-244610.0POMC, PRL, CRH
211 deoxycortisol4610.0POMC, PRL, CRH
3alpha msh469.9MC4R, POMC, CRH
4ptx1469.9POU1F1, POMC, PITX1
5mirtazapine46 52 1211.7CRH, PRL, POMC
6fenfluramine46 30 1211.6POMC, PRL, CRH, TRH
7betamethasone46 1210.5POMC, GH1, CRH
85-hydroxytryptophan469.5CRH, GH1, PRL
9hexarelin46 3010.5POMC, PRL, GH1, CRH
10naltrexone46 30 52 1212.5POMC, PRL, GH1, CRH
11dehydroepiandrosterone sulfate469.4CRH, GH1, PRL, POMC
12mifepristone46 30 62 1212.4HSD11B1, POMC, PRL, CRH
13ghrp469.3PRL, GH1, TRH
14cortisone46 2510.3CRH, GH1, POMC, HSD11B1
1511beta-hydroxysteroid469.3CRH, GH1, POMC, HSD11B1
16clomiphene citrate469.2PRL, GH1, CRH
17pyridostigmine46 1210.2PRL, GH1, CRH, TRH
18metyrapone46 62 1211.2CRH, POMC, HSD11B1
19sulpiride46 30 1211.2PRL, GH1, CRH, TRH
20haloperidol46 52 30 3 1213.2TRH, PRL, POMC, MC4R
21cocaine46 1210.2MC4R, POMC, PRL, CRH, TRH
22opiate469.2CRH, GH1, PRL, POMC, MC4R
23clonidine46 52 30 1212.1POMC, PRL, GH1, TRH
24metoclopramide46 52 1211.1TRH, GH1, PRL
25dhea469.0HSD11B1, POMC, PRL, GH1, CRH
26androstenedione46 2510.0CRH, GH1, PRL, POMC, HSD11B1
27naloxone46 30 52 1212.0POMC, PRL, GH1, CRH, TRH
28octreotide46 62 30 1212.0POMC, PRL, GH1, CRH, TRH
29thyroxine46 259.9POMC, PRL, GH1, CRH, TRH
30bromocriptine46 30 1210.9POMC, POU1F1, PRL, GH1, TRH
31melatonin46 30 62 25 1212.8PRL, GH1, PCSK1, TRH
32triiodothyronine468.8HSD11B1, POMC, PRL, GH1, TRH
33corticosterone46 62 2510.7HSD11B1, MC4R, POMC, PRL, GH1, CRH
34norepinephrine46 25 1210.6POMC, PRL, GH1, CRH, TRH
35hydrocortisone46 3 62 1211.6HSD11B1, POMC, PRL, GH1, CRH, TRH
36estradiol46 25 1210.4HSD11B1, POMC, PRL, GH1, CRH, TRH
37dopamine46 30 25 1211.2MC4R, POMC, POU1F1, PRL, GH1, CRH
38ribonucleic acid468.2HSD11B1, POMC, POU1F1, PRL, GH1, PCSK1
39testosterone46 62 25 1211.2HSD11B1, POMC, PRL, PROP1, GH1, CRH
40alanine468.1HSD11B1, MC4R, POMC, POU1F1, ASS1, GH1
41steroid468.0HSD11B1, MC4R, POMC, POU1F1, PRL, PROP1
42adenylate467.9MC4R, POMC, ASS1, GH1, PCSK1, CRH
43forskolin46 52 129.9HSD11B1, POMC, POU1F1, GH1, PCSK1, CRH
44dexamethasone46 52 30 1210.7HSD11B1, POMC, POU1F1, ASS1, PRL, GH1
45glucose467.7HSD11B1, MC4R, POMC, PRL, GH1, PCSK1
46progesterone46 30 62 25 1211.7HSD11B1, POMC, POU1F1, PRL, GH1, PCSK1
47estrogen467.6HSD11B1, POMC, POU1F1, PRL, GH1, PCSK1
48arginine467.4MC4R, POMC, POU1F1, ASS1, PRL, GH1
49gnrh466.8CRH, PCSK1, GH1, PROP1, PRL, HESX1
50acth466.5TRH, HSD11B1, MC4R, TBX19, CRH, PCSK1

GO Terms for genes affiliated with Acth Deficiency

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17Gene Ontology
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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
11cell-cell signalingGO:0072679.2TRH, PCSK1, POMC
12lung developmentGO:0303249.2LHX3, HSD11B1, CRH
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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Sources for Acth Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet