MCID: ISL005
MIFTS: 43

Isolated Acth Deficiency malady

Rare diseases, Endocrine diseases categories
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Summaries for Isolated Acth Deficiency

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33MalaCards
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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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43NIH Rare Diseases, 62UMLS
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Classifications:

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


Aliases & Descriptions:

isolated acth deficiency 43
isolated adrenocorticotropic hormone deficiency 43
adrenocorticotropic hormone deficiency 62
congenital isolated acth deficiency 43
isolated corticotropin deficiency 62
acth deficiency, isolated 43


Related Diseases for Isolated Acth Deficiency

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Isolated Acth Deficiency:

33
Pituitary, Thyroid, Bone, Brain

Animal Models for Isolated Acth Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Isolated Acth Deficiency:

37
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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52PubMed
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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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Isolated Acth Deficiency

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Pathways for genes affiliated with Isolated Acth Deficiency

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50PathCards, 51PharmGKB, 60Thomson Reuters, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Isolated Acth Deficiency

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45Novoseek, 29IUPHAR, 51PharmGKB, 11DrugBank, 24HMDB, 61Tocris 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
1hcrh459.8CRH, POMC
2pitressin459.7POMC, CRH
3antalarmin45 2910.7CRH, POMC
4ptx1459.6PITX1, POMC
5proliferin459.5CRH, PRL
6alpha msh459.5CRH, POMC
7allopregnanolone459.4CRH, POMC
8flesinoxan459.4PRL, POMC
9diazepam45 29 51 1112.3TRH, CRH, POMC
10ipsapirone45 2910.3POMC, PRL
11ghrp459.2PRL, TRH
12domperidone45 29 1111.1TRH, PRL
13pyridostigmine45 1110.1TRH, PRL, CRH
14sulpiride45 29 1111.1CRH, PRL, TRH
155-hydroxytryptophan459.1PRL, CRH
16acth 1-24459.0CRH, POMC, PRL
1711 deoxycortisol459.0POMC, CRH, PRL
18hexarelin45 2910.0POMC, PRL, CRH
19mirtazapine45 51 1111.0CRH, PRL, POMC
20naltrexone45 29 51 1112.0PRL, CRH, POMC
2117-hydroxyprogesterone45 2410.0CRH, POMC, PRL
22dehydroepiandrosterone sulfate459.0POMC, PRL, CRH
23carbamazepine45 51 1110.9PRL, POMC, CRH
24opiate458.9CRH, POMC, PRL
25dhea458.9CRH, POMC, PRL
26bromocriptine45 29 1110.9POMC, PRL, TRH
27androstenedione45 249.9CRH, PRL, POMC
28mhpg458.9CRH, PRL
29clonidine45 51 29 1111.9TRH, POMC, PRL
30corticosterone45 61 2410.9POMC, CRH, PRL
31mifepristone45 29 61 1111.9PRL, CRH, POMC
32triiodothyronine458.9POMC, PRL, TRH
33haloperidol45 51 29 3 1112.8TRH, POMC, PRL
345-hydroxytryptamine458.8POMC, PRL, CRH
35adenylate458.6POMC, ASS1, CRH, TRH
36fenfluramine45 29 1110.5PRL, POMC, CRH, TRH
37naloxone45 29 51 1111.5PRL, CRH, TRH, POMC
38octreotide45 61 29 1111.5TRH, CRH, POMC, PRL
39hydrocortisone45 3 61 1111.5PRL, POMC, CRH, TRH
40cocaine45 119.5PRL, POMC, CRH, TRH
41thyroxine45 249.5TRH, CRH, PRL, POMC
42norepinephrine45 24 1110.4TRH, PRL, POMC, CRH
43estradiol45 24 1110.4CRH, POMC, TRH, PRL
44dopamine45 29 24 1111.4POMC, PRL, CRH, TRH
45progesterone45 29 61 24 1112.3PRL, POMC, TRH, CRH
46testosterone45 61 24 1111.2TRH, CRH, POMC, PRL
47acth458.1PRL, TRH, TBX19, CRH, POMC
48gnrh458.1TRH, POMC, CRH, PITX1, PRL
49dexamethasone45 51 29 1110.9TRH, ASS1, POMC, CRH, PRL
50arginine457.9PRL, CRH, POMC, TRH, ASS1

GO Terms for genes affiliated with Isolated Acth Deficiency

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet