MCID: ACT087
MIFTS: 43

Acth Deficiency malady

Endocrine category

Summaries for Acth Deficiency

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33MalaCards
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MalaCards: Acth Deficiency, also known as adrenocorticotropic hormone deficiency, is related to hypoglycemia and hyperprolactinemia. 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 ptx1 have been mentioned in the context of this disorder. Affiliated tissues include brain, thyroid and fetal brain, and related mouse phenotypes are endocrine/exocrine gland and adipose tissue.

Aliases & Classifications for Acth Deficiency

Sources:
20GeneTests, 22GTR, 45Novoseek, 61UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine


Aliases & Descriptions:

acth deficiency 20 22 45
adrenocorticotropic hormone deficiency 61


Related Diseases for Acth Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Acth Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia30.5TRH, POMC, CRH, PRL, GH1
2hyperprolactinemia30.4PRL, TRH, GH1, CRH, POMC
3thyroiditis30.3TRH, POMC
4thyrotoxicosis29.9TRH
5gynecomastia29.9NR3C2, PRL
6isolated growth hormone deficiency29.9GH1, POU1F1
7dwarfism29.9GH1, POU1F1, PROP1
8cushing's syndrome29.9NR3C2, CRH, GH1, POMC
9acromegaly29.9HSD11B1, CRH, GH1, POMC, TRH, PRL
10growth hormone deficiency29.9PROP1, POU1F1, POMC, HESX1, CRH, GH1
11panhypopituitarism29.9PRL, GH1, HESX1, LHX3, PROP1, POU1F1
12isolated acth deficiency11.0
13adrenocorticotropic hormone deficiency10.4
14lymphocytic hypophysitis10.3
15late-onset isolated acth deficiency10.2
16thyroid crisis10.2
17common variable immunodeficiency10.2
18hypoaldosteronism10.1
19mental retardation10.1
20hypothyroidism, autoimmune10.1
21fibromyalgia10.0CRH
22hypogonadotropism10.0PRL
23seasonal affective disorder10.0CRH
24carney complex10.0POMC
25anovulation10.0PRL
26bulimia nervosa10.0MC4R
27cocaine dependence10.0POMC
28anxiety disorder10.0CRH
29substance abuse10.0CRH
30morbid obesity10.0MC4R
31dementia10.0TRH
32infertility10.0PRL
33irritable bowel syndrome10.0CRH
34adrenal carcinoma10.0POMC
35chronic fatigue syndrome10.0CRH, POMC
36obesity with impaired prohormone processing10.0PCSK1
37hyperthyroxinemia10.0TRH
38pituitary cancer10.0POMC, PRL
39exophthalmos10.0TRH, PITX1
40euthyroid sick syndrome10.0TRH
41neurogenic diabetes insipidus10.0POMC, PRL
42infantile epileptic encephalopathy10.0CRH, POMC
43endogenous depression10.0TRH, CRH
44gastrinoma10.0GH1
45panic disorder10.0CRH, POMC
46schizophrenia10.0PRL, TRH
47nelson syndrome10.0CRH, PRL, POMC
48sheehan syndrome10.0CRH, PRL, POMC
49melancholia10.0TRH, POMC, CRH
50pituitary apoplexy10.0TRH, PRL, POMC

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



Diseases related to acth deficiency

Clinical Features for Acth Deficiency

Drugs & Therapeutics for Acth Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Acth Deficiency

Drug clinical trials:

Search ClinicalTrials for Acth Deficiency

Search NIH Clinical Center for Acth Deficiency

Search CenterWatch for Acth Deficiency

Genetic Tests for Acth Deficiency

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Acth Deficiency:

id Genetic test Affiliating Genes
1 Acth Deficiency20 22 TBX19

Anatomical Context for Acth Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Acth Deficiency:

33
Brain, Thyroid, Fetal brain, Fetal thyroid, Pituitary

Animal Models for Acth Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Acth Deficiency

Sources:
51PubMed
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Articles related to Acth Deficiency:

(show top 50)    (show all 151)
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
Relationships of basal level of serum 17-hydroxyprogesterone with that of serum androstenedione and their stimulated responses to a low dose of ACTH in young adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (22065901)
2011
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
Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature. (21760815)
2011
6
Isolated acquired ACTH deficiency and primary hypothyroidism: a short series and review. (19110973)
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
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency. (20846292)
2010
10
Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report. (19795005)
2009
11
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. (19170705)
2009
12
Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. (15673970)
2005
13
Evaluation of adrenal function in patients with growth hormone deficiency and hypothalamic-pituitary disorders: comparison between insulin-induced hypoglycemia, low-dose ACTH, standard ACTH and CRH stimulation tests. (15879359)
2005
14
ACTH deficiency in childhood cancer survivors. (15700255)
2005
15
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. (15476446)
2004
16
Isolated ACTH deficiency associated with Crohn's disease. (15762046)
2004
17
An assessment of bone mineral density in patients with Addison's disease and isolated ACTH deficiency treated with glucocorticoid. (15256782)
2004
18
A syndrome with multiple malformations, mental retardation, and ACTH deficiency. (15054849)
2004
19
Expression of hypothalamic corticotropin-releasing hormone-like immunoreactivity in isolated ACTH deficiency: a report of an autopsied case. (12952371)
2003
20
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)
2003
21
Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency. (12110946)
2002
22
Does radiation therapy for brain tumor affect pituitary function, resulting in isolated ACTH deficiency? (12135170)
2002
23
Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations. (11836321)
2002
24
Isolated glucocorticoid deficiency and ACTH receptor mutations. (10714360)
1999
25
Diagnosis of ACTH deficiency. Comparison of overnight metyrapone test to either low-dose or high-dose ACTH test. (10681636)
1999
26
Increased plasma 17-hydroxyprogesterone response to ACTH in patients with nonhyperfunctioning adrenal adenomas is not due to a deficiency in 21-hydroxylase activity. (9768700)
1998
27
Simultaneously found transient hypothyroidism due to Hashimoto's thyroiditis, autoimmune hepatitis and isolated ACTH deficiency after cessation of glucocorticoid administration. (9279524)
1997
28
A case of isolated ACTH deficiency with hyporeninemic hypoaldosteronism. (8773360)
1996
29
The Pituitary in Isolated ACTH Deficiency: A Histologic, Immunocytochemical, and In Situ Hybridization Study. (12114737)
1996
30
Isolated congenital ACTH deficiency: a cleavage enzyme defect? (8187323)
1994
31
Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. (8069303)
1994
32
Isolated congenital ACTH deficiency: a cleavage enzyme defect? (8222301)
1993
33
Hyperresponsiveness of TSH and prolactin and impaired responsiveness of GH in Japanese patients with isolated ACTH deficiency]. (1333997)
1992
34
Isolated ACTH deficiency with absent response to corticotrophin-releasing factor--41. Evidence for a primary pituitary defect. (1852085)
1991
35
Isolated ACTH deficiency presenting with bilateral frozen shoulder. (1646665)
1991
36
Circadian timing of ACTH, beta endorphin, adrenal steroids and testosterone in patients with adrenogenital syndrome (21-hydroxylase deficiency). (2170988)
1990
37
Normoreninemic hypoaldosteronism in a case of isolated ACTH deficiency. (2551810)
1989
38
Adrenocorticotrophin (ACTH) deficiency undetected by standard dynamic tests of the hypothalamic-pituitary-adrenal axis. (2844448)
1988
39
Development of isolated ACTH deficiency in a man with type I diabetes mellitus. (2846679)
1988
40
Prolactin dynamics in a patient with isolated ACTH deficiency accompanied by hyperprolactinemia. (2830786)
1988
41
Isolated adrenocorticotrophic hormone (ACTH) deficiency associated with acute adrenal crisis. (2991871)
1985
42
A patient with an isolated ACTH deficiency. (6095126)
1984
43
Isolated ACTH deficiency associated with Hashimoto's thyroiditis: report of a case. (6086996)
1984
44
Mental status in a patient with isolated ACTH deficiency. (6301564)
1983
45
Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency. (6310438)
1983
46
Isolated ACTH deficiency presenting as severe hypercalcemia. (6283887)
1982
47
Isolated ACTH deficiency confirmed by ACTH radioimmunoassay. (6246162)
1980
48
The fetal adrenals of the rat: correlations between growth, cytology, and hormonal activity, with and without ACTH deficiency. (204540)
1978
49
Absent aldosterone response to ACTH in familial glucocorticoid deficiency. (198655)
1977
50
Familial moniliasis, defective delayed hypersensitivity, and ACTH deficiency. (4338384)
1972

Genetic Variations for Acth Deficiency

Expression for genes affiliated with Acth Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
50PharmGKB, 38NCBI BioSystems Database, 54Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Acth Deficiency

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Acth Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 109)
idCompoundScoreTop Affiliating Genes
1acth 1-244510.0POMC, PRL, CRH
2ptx1459.8PITX1, POMC, POU1F1
3alpha msh459.8CRH, POMC, MC4R
4hexarelin45 2910.6POMC, PRL, GH1, CRH
5fenfluramine29 45 1111.6POMC, TRH, CRH, PRL
6naltrexone45 50 29 1112.6CRH, GH1, PRL, POMC
7forskolin45 50 1111.6POMC, POU1F1, CRH, HSD11B1
85-hydroxytryptophan459.5CRH, PRL, GH1
9bromocriptine29 45 1111.5POMC, POU1F1, TRH, PRL
10dehydroepiandrosterone sulfate459.5POMC, GH1, PRL, CRH
11mirtazapine50 45 1111.5POMC, CRH, PRL
12betamethasone45 1110.4CRH, POMC, GH1
13pyridostigmine45 1110.4TRH, CRH, GH1, PRL
14sulpiride45 29 1111.3CRH, TRH, PRL, GH1
1511 deoxycortisol459.3CRH, PRL, NR3C2, POMC
16ghrp459.3TRH, PRL, GH1
17opiate459.3CRH, PRL, GH1, MC4R, POMC
18cocaine45 1110.2PRL, CRH, TRH, POMC, MC4R
19metoclopramide45 1110.2GH1, PRL, TRH
20cortisol29 2410.2HSD11B1, POMC, NR3C2
21clonidine45 29 1111.1POMC, GH1, TRH, PRL
22androstenedione45 2410.1PRL, POMC, GH1, HSD11B1, CRH
23naloxone45 50 29 1112.1POMC, CRH, GH1, TRH, PRL
24octreotide45 60 29 1112.1GH1, TRH, POMC, PRL, CRH
25metyrapone60 45 1111.1HSD11B1, CRH, NR3C2, POMC
26thyroxine45 2410.0POMC, GH1, PRL, CRH, TRH
27mifepristone45 60 29 1111.8CRH, PRL, HSD11B1, NR3C2, POMC
28melatonin45 60 29 11 2412.8PCSK1, PRL, GH1, TRH
29haloperidol45 29 2 50 1112.6PRL, NR3C2, TRH, MC4R, POMC
30cortisone45 249.6POMC, NR3C2, HSD11B1, CRH, GH1
3111beta-hydroxysteroid458.6HSD11B1, GH1, NR3C2, POMC, CRH
32dhea458.4NR3C2, HSD11B1, CRH, POMC, PRL, GH1
33norepinephrine45 11 2410.2CRH, GH1, NR3C2, PRL, POMC, TRH
34adenylate458.2MC4R, POMC, ASS1, PCSK1, TRH, GH1
35triiodothyronine458.1POMC, GH1, PRL, TRH, NR3C2, HSD11B1
36corticosterone45 60 2410.1CRH, GH1, PRL, NR3C2, POMC, MC4R
37hydrocortisone45 2 60 1110.9TRH, HSD11B1, GH1, CRH, PRL, NR3C2
38estradiol45 11 249.8TRH, NR3C2, PRL, GH1, CRH, HSD11B1
39dopamine45 29 11 2410.6CRH, GH1, PRL, NR3C2, MC4R, POMC
40ribonucleic acid457.6PRL, PCSK1, POMC, GH1, POU1F1, HSD11B1
41testosterone45 60 11 2410.5HSD11B1, CRH, NR3C2, PRL, GH1, PROP1
42alanine457.5HSD11B1, POU1F1, CRH, ASS1, MC4R, GH1
43steroid457.4HSD11B1, GH1, MC4R, POMC, POU1F1, NR3C2
44gnrh457.3TRH, POMC, PCSK1, PROP1, PRL, GH1
45glucose457.2TRH, PCSK1, POMC, MC4R, NR3C2, PRL
46dexamethasone45 50 29 1110.1HSD11B1, NR3C2, GH1, PRL, ASS1, POMC
47progesterone45 60 29 11 2411.1GH1, CRH, HSD11B1, NR3C2, TRH, POU1F1
48estrogen457.1POU1F1, PRL, POMC, TRH, GH1, CRH
49arginine456.9POMC, POU1F1, TRH, ASS1, PCSK1, NR3C2
50acth456.4NR3C2, PRL, GH1, CRH, HESX1, HSD11B1

GO Terms for genes affiliated with Acth Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Acth Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:0347749.8PCSK1, POMC
2secretory granuleGO:0301419.2POMC, TRH, PRL

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1parturitionGO:00756710.1PRL, CRH
2glucocorticoid biosynthetic processGO:0067049.9CRH, HSD11B1
3peptide hormone processingGO:0164869.7POMC, PCSK1
4positive regulation of JAK-STAT cascadeGO:0464279.7PRL, GH1
5JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.7PRL, GH1
6response to ethanolGO:0454719.6CRH, PRL, TRH
7pituitary gland developmentGO:0219839.6TBX19, PITX1, LHX3
8response to corticosterone stimulusGO:0514129.4TRH, CRH
9positive regulation of transcription from RNA polymerase II promoterGO:0459448.7LHX3, PITX1, PROP1, TBX19, POU1F1, POMC

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

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.7TRH, CRH
2prolactin receptor bindingGO:0051489.6PRL, GH1
3hormone activityGO:0051799.3POMC, PRL, GH1, CRH
4sequence-specific DNA bindingGO:0435657.8LHX3, HESX1, PITX1, NR3C2, POU1F1
5sequence-specific DNA binding transcription factor activityGO:0037007.6LHX3, HESX1, PITX1, PROP1, NR3C2, TBX19

Products for genes affiliated with Acth Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acth Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet