MCID: ISL005
MIFTS: 43

Isolated Acth Deficiency malady

Rare diseases, Endocrine diseases categories

Summaries for Isolated Acth Deficiency

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34MalaCards
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MalaCards: Isolated Acth Deficiency, also known as isolated adrenocorticotropic hormone deficiency, is related to acth deficiency and hypothyroidism. An important gene associated with Isolated Acth Deficiency is TBX19 (T-box 19), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and Development Leptin signaling via JAK STAT and MAPK cascades. The compounds hcrh and pitressin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and bone, and related mouse phenotypes are growth/size/body and integument.

Aliases & Classifications for Isolated Acth Deficiency

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44NIH Rare Diseases, 63UMLS
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Classifications:

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


Aliases & Descriptions:

isolated acth deficiency 44
isolated adrenocorticotropic hormone deficiency 44
adrenocorticotropic hormone deficiency 63
congenital isolated acth deficiency 44
isolated corticotropin deficiency 63
acth deficiency, isolated 44


Related Diseases for Isolated Acth Deficiency

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

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1acth deficiency31.5TBX19, POMC, PRL, CRH
2hypothyroidism30.8PRL, TRH, POMC
3thyroiditis30.6TRH, POMC
4hypoglycemia30.5CRH, PRL, POMC, TRH
5hyperprolactinemia30.4CRH, PRL, POMC, TRH
6growth hormone deficiency30.4POMC, PRL, CRH
7addison's disease30.2POMC, CRH
8hypopituitarism30.1PRL, CRH, TRH, POMC
9lymphocytic hypophysitis10.4
10diabetes mellitus10.4
11late-onset isolated acth deficiency10.4
12thyroid crisis10.3
13common variable immunodeficiency10.3
14hypoaldosteronism10.3
15crohn's disease10.1
16hypoglycemic coma10.1
17focal segmental glomerulosclerosis10.1
18citrullinemia10.1
19autoimmune hepatitis10.1
20type 1 diabetes mellitus10.1
21gynecomastia10.1
22hypercalcemia10.1
23graves' disease10.1
24frozen shoulder10.1
25glomerulosclerosis10.1
26hepatitis10.1
27thyrotoxicosis10.1
28hyporeninemic hypoaldosteronism10.1
29adrenocorticotropic hormone deficiency10.1
30pituicytoma10.1
31seasonal affective disorder10.1CRH
32hyperthyroxinemia10.1TRH
33euthyroid sick syndrome10.1TRH
34exophthalmos10.1TRH, PITX1
35adrenal carcinoma10.1POMC
36endogenous depression10.0CRH, TRH
37hypothalamic disease10.0CRH, PRL
38klinefelter's syndrome10.0PRL, TRH
39pituitary carcinoma10.0POMC, PRL
40gonadal disease10.0CRH, POMC
41neurogenic diabetes insipidus10.0PRL, POMC
42cushing's syndrome10.0POMC, CRH
43hypoadrenalism10.0CRH, POMC
44thyrotropin deficiency, isolated10.0PRL, POMC
45infantile epileptic encephalopathy10.0POMC, CRH
46panic disorder10.0CRH, POMC
47panhypopituitarism10.0PRL, POMC
48chronic fatigue syndrome10.0POMC, CRH
49hyperthyroidism10.0TRH, PRL
50precocious puberty10.0POMC, PRL

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



Diseases related to isolated acth deficiency

Symptoms for Isolated Acth Deficiency

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Drugs & Therapeutics for Isolated Acth Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Isolated Acth Deficiency

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Anatomical Context for Isolated Acth Deficiency

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34MalaCards
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MalaCards organs/tissues related to Isolated Acth Deficiency:

34
Pituitary, Thyroid, Bone, Brain

Animal Models for Isolated Acth Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Isolated Acth Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.5PITX1, POMC, ASS1, CRH, TBX19, TRH
2MP:00107717.4POMC, ASS1, PRL, CRH, TBX19
3MP:00053797.3PITX1, POMC, PRL, CRH, TBX19, TRH
4MP:00053767.2TRH, TBX19, CRH, PRL, ASS1, POMC
5MP:00036316.8TRH, PITX1, POMC, ASS1, PRL, CRH

Publications for Isolated Acth Deficiency

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53PubMed
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Articles related to Isolated Acth Deficiency:

(show top 50)    (show all 73)
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
Isolated ACTH deficiency presenting with a glucocorticoid-responsive triphasic wave coma. (22821112)
2012
5
Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature. (21760815)
2011
6
Catecholamine-resistant shock and hypoglycemic coma after cardiotomy in a patient with unexpected isolated ACTH deficiency. (21400210)
2011
7
Focal segmental glomerulosclerosis in a patient with isolated ACTH deficiency and reversible hypothyroidism. (19809785)
2010
8
Pituicytoma and isolated ACTH deficiency. (19408127)
2009
9
May primary empty sella turcica be a cause of isolated ACTH deficiency? A case report and the review of related literature. (18063931)
2007
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
Isolated ACTH deficiency associated with Crohn's disease. (15762046)
2004
15
An assessment of bone mineral density in patients with Addison's disease and isolated ACTH deficiency treated with glucocorticoid. (15256782)
2004
16
Effect of ACTH on renal excretion of purine bases in a patient with isolated ACTH deficiency. (10727684)
2000
17
A case of isolated ACTH deficiency presenting with hypercalcaemia. (11220994)
2000
18
Hashimoto's encephalopathy associated with isolated ACTH deficiency and hyponatremia: a case report. (10552249)
1999
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
The Pituitary in Isolated ACTH Deficiency: A Histologic, Immunocytochemical, and In Situ Hybridization Study. (12114737)
1996
24
Isolated ACTH deficiency: enzyme defect or chimaeric enzyme? (8222302)
1993
25
A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma]. (1337025)
1992
26
Hyperresponsiveness of TSH and prolactin and impaired responsiveness of GH in Japanese patients with isolated ACTH deficiency]. (1333997)
1992
27
Isolated ACTH deficiency with absent response to corticotrophin-releasing factor--41. Evidence for a primary pituitary defect. (1852085)
1991
28
Isolated ACTH deficiency presenting with bilateral frozen shoulder. (1646665)
1991
29
Anosmia and isolated ACTH deficiency following a road traffic accident. Case report. (2166780)
1990
30
Isolated ACTH deficiency: description of a clinical case]. (2174182)
1990
31
Isolated ACTH deficiency associated with transient thyrotoxicosis and hyperprolactinemia. (2555145)
1989
32
Reports of two cases of selective adrenocorticotropin (ACTH) and growth hormone (GH) deficiency: differential diagnosis from cases with isolated ACTH deficiency associated with transient GH insufficiency. (2559842)
1989
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
Isolated ACTH deficiency contributing to frequent hypoglycemia in type I diabetes. (2988889)
1985
37
Isolated ACTH deficiency with transitory GH deficiency. (2985687)
1985
38
Isolated ACTH deficiency. (2999619)
1985
39
Isolated ACTH deficiency; a not-so-rare syndrome, with variable manifestations. (6095121)
1984
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
A case with isolated ACTH deficiency accompanying chronic thyroiditis. (6290200)
1982
43
Isolated ACTH deficiency: a heterogeneous disorder. Critical review and report of four new cases. (6276646)
1982
44
Isolated ACTH deficiency and primary hypothyroidism. (6280435)
1982
45
Isolated ACTH deficiency confirmed by ACTH radioimmunoassay. (6246162)
1980
46
Isolated ACTH deficiency and primary hypothyroidism: volume-dependent elevation of antidiuretic hormone secretion in the presence of hyponatremia. (6249773)
1980
47
Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy. (210721)
1978
48
Co-existent primary hypothyroidism and isolated ACTH deficiency. (180738)
1976
49
Isolated ACTH deficiency and pregnancy. (186733)
1976
50
Coexistent diabetes mellitus and isolated ACTH deficiency: report of a case. (4297249)
1968

Variations for Isolated Acth Deficiency

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Expression for genes affiliated with Isolated Acth Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Isolated Acth Deficiency

Search GEO for disease gene expression data for Isolated Acth Deficiency.

Pathways for genes affiliated with Isolated Acth Deficiency

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51PathCards, 52PharmGKB, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Compounds for genes affiliated with Isolated Acth Deficiency

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

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1hcrh469.8CRH, POMC
2pitressin469.7POMC, CRH
3antalarmin46 3010.7CRH, POMC
4ptx1469.6PITX1, POMC
5proliferin469.5CRH, PRL
6alpha msh469.5CRH, POMC
7allopregnanolone469.4CRH, POMC
8flesinoxan469.4PRL, POMC
9diazepam46 30 52 1212.3TRH, CRH, POMC
10ipsapirone46 3010.3POMC, PRL
11ghrp469.2PRL, TRH
12domperidone46 30 1211.1TRH, PRL
13pyridostigmine46 1210.1TRH, PRL, CRH
14sulpiride46 30 1211.1CRH, PRL, TRH
155-hydroxytryptophan469.1PRL, CRH
16acth 1-24469.0CRH, POMC, PRL
1711 deoxycortisol469.0POMC, CRH, PRL
18hexarelin46 3010.0POMC, PRL, CRH
19mirtazapine46 52 1211.0CRH, PRL, POMC
20naltrexone46 30 52 1212.0PRL, CRH, POMC
2117-hydroxyprogesterone46 2510.0CRH, POMC, PRL
22dehydroepiandrosterone sulfate469.0POMC, PRL, CRH
23carbamazepine46 52 1210.9PRL, POMC, CRH
24opiate468.9CRH, POMC, PRL
25dhea468.9CRH, POMC, PRL
26bromocriptine46 30 1210.9POMC, PRL, TRH
27androstenedione46 259.9CRH, PRL, POMC
28mhpg468.9CRH, PRL
29clonidine46 52 30 1211.9TRH, POMC, PRL
30corticosterone46 62 2510.9POMC, CRH, PRL
31mifepristone46 30 62 1211.9PRL, CRH, POMC
32triiodothyronine468.9POMC, PRL, TRH
33haloperidol46 52 30 3 1212.8TRH, POMC, PRL
345-hydroxytryptamine468.8POMC, PRL, CRH
35adenylate468.6POMC, ASS1, CRH, TRH
36fenfluramine46 30 1210.5PRL, POMC, CRH, TRH
37naloxone46 30 52 1211.5PRL, CRH, TRH, POMC
38octreotide46 62 30 1211.5TRH, CRH, POMC, PRL
39hydrocortisone46 3 62 1211.5PRL, POMC, CRH, TRH
40cocaine46 129.5PRL, POMC, CRH, TRH
41thyroxine46 259.5TRH, CRH, PRL, POMC
42norepinephrine46 25 1210.4TRH, PRL, POMC, CRH
43estradiol46 25 1210.4CRH, POMC, TRH, PRL
44dopamine46 30 25 1211.4POMC, PRL, CRH, TRH
45progesterone46 30 62 25 1212.3PRL, POMC, TRH, CRH
46testosterone46 62 25 1211.2TRH, CRH, POMC, PRL
47acth468.1PRL, TRH, TBX19, CRH, POMC
48gnrh468.1TRH, POMC, CRH, PITX1, PRL
49dexamethasone46 52 30 1210.9TRH, ASS1, POMC, CRH, PRL
50arginine467.9PRL, CRH, POMC, TRH, ASS1

GO Terms for genes affiliated with Isolated Acth Deficiency

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17Gene Ontology
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Cellular components related to Isolated Acth Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:0301419.3TRH, POMC
2extracellular regionGO:0055767.8TRH, CRH, PRL, POMC

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

idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:0219839.7TBX19, PITX1
2anatomical structure morphogenesisGO:0096539.7TBX19, PITX1
3response to corticosteroneGO:0514129.6TRH, CRH
4response to ethanolGO:0454719.2TRH, CRH
5female pregnancyGO:0075659.1PRL, CRH

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

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.5TRH, CRH
2hormone activityGO:0051798.3CRH, PRL, POMC

Products for genes affiliated with Isolated Acth Deficiency

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Sources for Isolated 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