MCID: ISL005
MIFTS: 44

Isolated Acth Deficiency malady

Rare diseases, Endocrine diseases categories
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Summaries for Isolated Acth Deficiency

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MalaCards based summary: 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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Isolated Acth Deficiency, Aliases & Descriptions:

Name: Isolated Acth Deficiency 42
Isolated Adrenocorticotropic Hormone Deficiency 42
Adrenocorticotropic Hormone Deficiency 62
 
Congenital Isolated Acth Deficiency 42
Isolated Corticotropin Deficiency 62
Acth Deficiency, Isolated 42


Classifications:

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


Related Diseases for Isolated Acth Deficiency

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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 88)
idRelated DiseaseScoreTop Affiliating Genes
1acth deficiency31.2TBX19, POMC, PRL, CRH
2hypothyroidism30.7PRL, TRH, POMC
3thyroiditis30.6TRH, POMC
4growth hormone deficiency30.2POMC, PRL, CRH
5addison's disease30.2POMC, CRH
6hypoglycemia30.1CRH, PRL, POMC, TRH
7hyperprolactinemia30.1CRH, PRL, POMC, TRH
8hypopituitarism29.7PRL, CRH, TRH, POMC
9diabetes mellitus10.4
10gastric cancer10.4
11lymphocytic hypophysitis10.4
12seasonal affective disorder10.4CRH
13hyperthyroxinemia10.4TRH
14euthyroid sick syndrome10.4TRH
15late-onset isolated acth deficiency10.4
16hypoaldosteronism10.3
17acute lymphoblastic leukemia10.3
18common variable immunodeficiency10.3
19leukemia10.3
20major depressive disorder10.3
21type 2 diabetes mellitus10.3
22thyroid crisis10.3
23long qt syndrome10.3
24lymphoblastic leukemia10.3
25exophthalmos10.3TRH, PITX1
26adrenal carcinoma10.2POMC
27endogenous depression10.2CRH, TRH
28hypothalamic disease10.2CRH, PRL
29autoimmune hepatitis10.1
30crohn's disease10.1
31focal segmental glomerulosclerosis10.1
32hepatitis10.1
33type 1 diabetes mellitus10.1
34frozen shoulder10.1
35hypoglycemic coma10.1
36citrullinemia10.1
37gynecomastia10.1
38hypercalcemia10.1
39graves' disease10.1
40glomerulosclerosis10.1
41thyrotoxicosis10.1
42hyporeninemic hypoaldosteronism10.1
43adrenocorticotropic hormone deficiency10.1
44pituicytoma10.1
45klinefelter's syndrome10.1PRL, TRH
46pituitary carcinoma10.1POMC, PRL
47gonadal disease10.0CRH, POMC
48neurogenic diabetes insipidus10.0PRL, POMC
49cushing's syndrome10.0POMC, CRH
50hypoadrenalism10.0CRH, POMC

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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Drug clinical trials:

Search ClinicalTrials for Isolated Acth Deficiency

Search NIH Clinical Center for Isolated Acth Deficiency

Genetic Tests for Isolated Acth Deficiency

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Anatomical Context for Isolated Acth Deficiency

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MalaCards organs/tissues related to Isolated Acth Deficiency:

32
Pituitary, Thyroid, Bone, Brain

Animal Models for Isolated Acth Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Isolated Acth Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.5TRH, TBX19, CRH, PITX1, POMC, ASS1
2MP:00107717.4POMC, ASS1, PRL, CRH, TBX19
3MP:00053797.3TRH, PRL, PITX1, POMC, TBX19, CRH
4MP:00053767.2POMC, ASS1, CRH, TBX19, TRH, PRL
5MP:00036316.8PITX1, POMC, ASS1, PRL, CRH, TBX19

Publications for Isolated Acth Deficiency

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Articles related to Isolated Acth Deficiency:

(show top 50)    (show all 74)
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
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. (22170728)
2012
5
Isolated ACTH deficiency presenting with a glucocorticoid-responsive triphasic wave coma. (22821112)
2012
6
Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature. (21760815)
2011
7
Catecholamine-resistant shock and hypoglycemic coma after cardiotomy in a patient with unexpected isolated ACTH deficiency. (21400210)
2011
8
Focal segmental glomerulosclerosis in a patient with isolated ACTH deficiency and reversible hypothyroidism. (19809785)
2010
9
Pituicytoma and isolated ACTH deficiency. (19408127)
2009
10
May primary empty sella turcica be a cause of isolated ACTH deficiency? A case report and the review of related literature. (18063931)
2007
11
A case of post-traumatic isolated ACTH deficiency with spontaneous recovery 9 months after the event. (16421141)
2006
12
A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations. (15666849)
2004
13
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. (15476446)
2004
14
A trial of intranasal ACTH(1-24) administration to a patient with isolated ACTH deficiency. (14737049)
2004
15
Isolated ACTH deficiency associated with Crohn's disease. (15762046)
2004
16
An assessment of bone mineral density in patients with Addison's disease and isolated ACTH deficiency treated with glucocorticoid. (15256782)
2004
17
Effect of ACTH on renal excretion of purine bases in a patient with isolated ACTH deficiency. (10727684)
2000
18
A case of isolated ACTH deficiency presenting with hypercalcaemia. (11220994)
2000
19
Hashimoto's encephalopathy associated with isolated ACTH deficiency and hyponatremia: a case report. (10552249)
1999
20
Isolated ACTH deficiency. (9568810)
1998
21
Simultaneously found transient hypothyroidism due to Hashimoto's thyroiditis, autoimmune hepatitis and isolated ACTH deficiency after cessation of glucocorticoid administration. (9279524)
1997
22
Delayed diagnosis of isolated ACTH deficiency in a patient with diabetes mellitus. (8973892)
1996
23
A case of isolated ACTH deficiency with hyporeninemic hypoaldosteronism. (8773360)
1996
24
The Pituitary in Isolated ACTH Deficiency: A Histologic, Immunocytochemical, and In Situ Hybridization Study. (12114737)
1996
25
Isolated ACTH deficiency: enzyme defect or chimaeric enzyme? (8222302)
1993
26
A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma]. (1337025)
1992
27
Hyperresponsiveness of TSH and prolactin and impaired responsiveness of GH in Japanese patients with isolated ACTH deficiency]. (1333997)
1992
28
Isolated ACTH deficiency with absent response to corticotrophin-releasing factor--41. Evidence for a primary pituitary defect. (1852085)
1991
29
Isolated ACTH deficiency presenting with bilateral frozen shoulder. (1646665)
1991
30
Anosmia and isolated ACTH deficiency following a road traffic accident. Case report. (2166780)
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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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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Compounds for genes affiliated with Isolated Acth Deficiency

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Compounds related to Isolated Acth Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1hcrh449.8CRH, POMC
2pitressin449.7POMC, CRH
3antalarmin44 2810.7CRH, POMC
4ptx1449.6PITX1, POMC
5proliferin449.5CRH, PRL
6alpha msh449.5CRH, POMC
7allopregnanolone449.4CRH, POMC
8flesinoxan449.4PRL, POMC
9diazepam44 28 50 1112.3TRH, CRH, POMC
10ipsapirone44 2810.3POMC, PRL
11ghrp449.2PRL, TRH
12domperidone44 28 1111.1TRH, PRL
13pyridostigmine44 1110.1TRH, PRL, CRH
14sulpiride44 28 1111.1CRH, PRL, TRH
155-hydroxytryptophan449.1PRL, CRH
16acth 1-24449.0CRH, POMC, PRL
1711 deoxycortisol449.0POMC, CRH, PRL
18hexarelin44 2810.0POMC, PRL, CRH
19mirtazapine44 50 1111.0CRH, PRL, POMC
20naltrexone44 28 50 1112.0PRL, CRH, POMC
2117-hydroxyprogesterone44 2410.0CRH, POMC, PRL
22dehydroepiandrosterone sulfate449.0POMC, PRL, CRH
23carbamazepine44 50 1110.9PRL, POMC, CRH
24opiate448.9CRH, POMC, PRL
25dhea448.9CRH, POMC, PRL
26bromocriptine44 28 1110.9POMC, PRL, TRH
27androstenedione44 249.9CRH, PRL, POMC
28mhpg448.9CRH, PRL
29clonidine44 50 28 1111.9TRH, POMC, PRL
30corticosterone44 61 2410.9POMC, CRH, PRL
31mifepristone44 28 61 1111.9PRL, CRH, POMC
32triiodothyronine448.9POMC, PRL, TRH
33haloperidol44 50 28 2 1112.8TRH, POMC, PRL
345-hydroxytryptamine448.8POMC, PRL, CRH
35adenylate448.6POMC, ASS1, CRH, TRH
36fenfluramine44 28 1110.5PRL, POMC, CRH, TRH
37naloxone44 28 50 1111.5PRL, CRH, TRH, POMC
38octreotide44 61 28 1111.5TRH, CRH, POMC, PRL
39hydrocortisone44 2 61 1111.5PRL, POMC, CRH, TRH
40cocaine44 119.5PRL, POMC, CRH, TRH
41thyroxine44 249.5TRH, CRH, PRL, POMC
42norepinephrine44 24 1110.4TRH, PRL, POMC, CRH
43estradiol44 24 1110.4CRH, POMC, TRH, PRL
44dopamine44 28 24 1111.4POMC, PRL, CRH, TRH
45progesterone44 28 61 24 1112.3PRL, POMC, TRH, CRH
46testosterone44 61 24 1111.2TRH, CRH, POMC, PRL
47acth448.1PRL, TRH, TBX19, CRH, POMC
48gnrh448.1TRH, POMC, CRH, PITX1, PRL
49dexamethasone44 50 28 1110.9TRH, ASS1, POMC, CRH, PRL
50arginine447.9PRL, CRH, POMC, TRH, ASS1

GO Terms for genes affiliated with Isolated Acth Deficiency

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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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  • Antibodies
  • Proteins
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Sources for Isolated 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