MCID: ISL005
MIFTS: 39

Isolated Acth Deficiency malady

Endocrine category

Summaries for Isolated Acth Deficiency

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Isolated Acth Deficiency, also known as isolated adrenocorticotropic hormone deficiency, is related to acth deficiency and hypoglycemia. 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 brain, thyroid and fetal brain, and related mouse phenotypes are integument and homeostasis/metabolism.

Aliases & Classifications for Isolated Acth Deficiency

Sources:
43NIH Rare Diseases, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

isolated acth deficiency 43
isolated adrenocorticotropic hormone deficiency 43
adrenocorticotropic hormone deficiency 61
congenital isolated acth deficiency 43
isolated corticotropin deficiency 61
acth deficiency, isolated 43


Related Diseases for Isolated Acth Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1acth deficiency31.5POMC, TBX19, PRL, CRH
2hypoglycemia30.6POMC, TRH, PRL, CRH
3thyroiditis30.5TRH, POMC
4hyperprolactinemia30.5POMC, TRH, PRL, CRH
5gynecomastia30.1PRL
6growth hormone deficiency30.1POMC, PRL, CRH
7lymphocytic hypophysitis10.4
8late-onset isolated acth deficiency10.4
9thyroid crisis10.3
10common variable immunodeficiency10.3
11hypoaldosteronism10.3
12hypothyroidism, autoimmune10.3
13factor viii deficiency10.1
14alopecia universalis10.1
15factor v deficiency10.1
16factor vii deficiency10.1
17ulcerative colitis10.1
18alopecia10.1
19focal segmental glomerulosclerosis10.1
20hypoglycemic coma10.1
21hepatitis c10.1
22autoimmune thyroiditis10.1
23citrullinemia10.1
24autoimmune hepatitis10.1
25hepatitis d10.1
26hypercalcemia10.1
27frozen shoulder10.1
28focal glomerulosclerosis10.1
29graves' disease10.1
30hepatitis a10.1
31thyrotoxicosis10.1
32hyporeninemic hypoaldosteronism10.1
33isolated growth hormone deficiency10.1
34adrenocorticotropic hormone deficiency10.1
35pituicytoma10.1
36fibromyalgia10.0CRH
37seasonal affective disorder10.0CRH
38substance abuse10.0CRH
39irritable bowel syndrome10.0CRH
40anovulation10.0PRL
41hyperthyroxinemia10.0TRH
42euthyroid sick syndrome10.0TRH
43alcohol dependence10.0CRH
44infertility10.0PRL
45dementia10.0TRH
46leukemia10.0ASS1
47cocaine dependence10.0POMC
48anxiety disorder10.0CRH
49systemic lupus erythematosus10.0PRL
50adrenal carcinoma10.0POMC

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



Diseases related to isolated acth deficiency

Clinical Features for Isolated Acth Deficiency

Drugs & Therapeutics for Isolated Acth Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Isolated Acth Deficiency

Drug clinical trials:

Search ClinicalTrials for Isolated Acth Deficiency

Search NIH Clinical Center for Isolated Acth Deficiency

Search CenterWatch for Isolated Acth Deficiency

Genetic Tests for Isolated Acth Deficiency

Anatomical Context for Isolated Acth Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Isolated Acth Deficiency:

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

Animal Models for Isolated Acth Deficiency or affiliated genes

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

MGI Mouse Phenotypes related to Isolated Acth Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.4CRH, PRL, TBX19, POMC, ASS1
2MP:00053767.2ASS1, POMC, TRH, TBX19, PRL, CRH
3MP:00036316.6ASS1, POMC, TRH, TBX19, PRL, CRH

Publications for Isolated Acth Deficiency

Sources:
51PubMed
See all sources

Articles related to Isolated Acth Deficiency:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. (22170728)
2012
2
Isolated ACTH deficiency presenting with a glucocorticoid-responsive triphasic wave coma. (22821112)
2012
3
Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature. (21760815)
2011
4
Isolated acquired ACTH deficiency and primary hypothyroidism: a short series and review. (19110973)
2011
5
Focal segmental glomerulosclerosis in a patient with isolated ACTH deficiency and reversible hypothyroidism. (19809785)
2010
6
Gene symbol: TBX19. Disease: ACTH deficiency, isolated? (20960606)
2008
7
Ampulla (Takotsubo) cardiomyopathy caused by secondary adrenal insufficiency in ACTH isolated deficiency. (17664847)
2007
8
May primary empty sella turcica be a cause of isolated ACTH deficiency? A case report and the review of related literature. (18063931)
2007
9
A case of post-traumatic isolated ACTH deficiency with spontaneous recovery 9 months after the event. (16421141)
2006
10
A trial of intranasal ACTH(1-24) administration to a patient with isolated ACTH deficiency. (14737049)
2004
11
An assessment of bone mineral density in patients with Addison's disease and isolated ACTH deficiency treated with glucocorticoid. (15256782)
2004
12
Isolated ACTH deficiency with Graves' disease: a case report. (15004417)
2004
13
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
14
T-box and isolated ACTH deficiency. (11916612)
2002
15
A case of isolated ACTH deficiency presenting with hypercalcaemia. (11220994)
2000
16
A case of isolated ACTH deficiency who developed autoimmune-mediated hypothyroidism and impaired water diuresis during glucocorticoid replacement therapy. (11228040)
2000
17
Isolated glucocorticoid deficiency and ACTH receptor mutations. (10714360)
1999
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
The Pituitary in Isolated ACTH Deficiency: A Histologic, Immunocytochemical, and In Situ Hybridization Study. (12114737)
1996
23
Severe hypoglycemia and type I diabetes with isolated ACTH deficiency. (8722062)
1995
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
Thyroid dysfunction in isolated adrenocorticotropic hormone (ACTH) deficiency: case report and literature review. (7920902)
1993
28
Isolated ACTH deficiency with absent response to corticotrophin-releasing factor--41. Evidence for a primary pituitary defect. (1852085)
1991
29
Isolated ACTH deficiency. (1660365)
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
Normoreninemic hypoaldosteronism in a case of isolated ACTH deficiency. (2551810)
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
Reversible hypothyroidism in idiopathic adrenal insufficiency and in isolated ACTH deficiency. (2836495)
1988
36
Isolated ACTH deficiency with transitory GH deficiency. (2985687)
1985
37
Isolated ACTH deficiency. (2999619)
1985
38
Isolated adrenocorticotrophic hormone (ACTH) deficiency associated with acute adrenal crisis. (2991871)
1985
39
A patient with an isolated ACTH deficiency. (6095126)
1984
40
Isolated ACTH deficiency associated with Hashimoto's thyroiditis: report of a case. (6086996)
1984
41
Isolated ACTH deficiency accompanied by 'primary hypothyroidism' and hyperprolactinaemia. (6318488)
1983
42
Mental status in a patient with isolated ACTH deficiency. (6301564)
1983
43
Isolated adrenocorticotropic hormone (ACTH) deficiency. (6297233)
1982
44
Isolated ACTH deficiency and primary hypothyroidism. (6280435)
1982
45
Isolated ACTH deficiency presenting as severe hypercalcemia. (6283887)
1982
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 and TSH deficiency in the adult. (233250)
1979
48
Co-existent primary hypothyroidism and isolated ACTH deficiency. (180738)
1976
49
Coexistent diabetes mellitus and isolated ACTH deficiency: report of a case. (4297249)
1968
50
Hypoglycemia in a two-year-old boy with adrenocorticotropic hormone (ACTH) deficiency (probably isolated) and adrenal medullary unresponsiveness to insulin-induced hypoglycemia. (4295129)
1968

Genetic Variations for Isolated Acth Deficiency

Expression for genes affiliated with Isolated Acth Deficiency

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

Sources:
50PharmGKB, 12EMD Millipore, 54Reactome, 30KEGG
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4POMC, CRH
2
Development Leptin signaling via JAK/STAT and MAPK cascades
Hide members
9.3POMC, TRH
3
Hide members
8.1POMC, TRH, PRL, CRH

Compounds for genes affiliated with Isolated Acth Deficiency

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

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

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1hcrh459.8POMC, CRH
2pitressin459.8POMC, CRH
3antalarmin45 2910.7POMC, CRH
4ptx1459.7PITX1, POMC
5proliferin459.5CRH, PRL
6alpha msh459.5POMC, CRH
7allopregnanolone459.5POMC, CRH
8topiramate45 11 2411.4POMC, CRH
9flesinoxan459.4PRL, POMC
10ghrp459.3PRL, TRH
11ipsapirone45 2910.3PRL, POMC
12diazepam45 50 29 1112.3CRH, POMC, TRH
13pyridostigmine45 1110.1PRL, CRH, TRH
14sulpiride45 29 1111.1PRL, TRH, CRH
155-hydroxytryptophan459.1PRL, CRH
16acth 1-24459.0POMC, CRH, PRL
1711 deoxycortisol459.0POMC, PRL, CRH
18hexarelin45 2910.0PRL, POMC, CRH
19mirtazapine50 45 1111.0CRH, PRL, POMC
20naltrexone45 50 29 1112.0CRH, PRL, POMC
2117-hydroxyprogesterone45 2410.0POMC, CRH, PRL
22dehydroepiandrosterone sulfate459.0CRH, PRL, POMC
23carbamazepine45 50 1111.0POMC, PRL, CRH
24opiate458.9CRH, PRL, POMC
25dhea458.9POMC, PRL, CRH
26bromocriptine29 45 1110.9POMC, PRL, TRH
27androstenedione45 249.9PRL, POMC, CRH
28mhpg458.9CRH, PRL
29clonidine45 29 1110.9PRL, TRH, POMC
30corticosterone45 60 2410.9CRH, PRL, POMC
31mifepristone45 60 29 1111.9CRH, PRL, POMC
32triiodothyronine458.9POMC, TRH, PRL
33haloperidol45 29 2 50 1112.8PRL, POMC, TRH
345-hydroxytryptamine458.8POMC, PRL, CRH
35adenylate458.6TRH, CRH, ASS1, POMC
36fenfluramine29 45 1110.5CRH, PRL, TRH, POMC
37naloxone45 50 29 1111.5CRH, PRL, TRH, POMC
38octreotide45 60 29 1111.5POMC, TRH, PRL, CRH
39hydrocortisone45 2 60 1111.5POMC, PRL, CRH, TRH
40cocaine45 119.5CRH, PRL, TRH, POMC
41thyroxine45 249.5POMC, TRH, PRL, CRH
42norepinephrine45 11 2410.4PRL, TRH, POMC, CRH
43estradiol45 11 2410.4POMC, TRH, CRH, PRL
44dopamine45 29 11 2411.3POMC, PRL, TRH, CRH
45progesterone45 60 29 11 2412.2CRH, POMC, TRH, PRL
46acth458.1TRH, POMC, CRH, PRL, TBX19
47gnrh458.1POMC, TRH, PRL, CRH, PITX1
48testosterone45 60 11 2411.1CRH, TRH, POMC, PRL
49dexamethasone45 50 29 1110.9PRL, ASS1, CRH, TRH, POMC
50arginine457.9CRH, PRL, TRH, POMC, ASS1

GO Terms for genes affiliated with Isolated Acth Deficiency

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:0301418.5POMC, TRH, PRL

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

idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:0219839.7TBX19, PITX1
2response to corticosterone stimulusGO:0514129.2TRH, CRH
3parturitionGO:0075679.1PRL, CRH
4response to ethanolGO:0454718.7TRH, PRL, CRH

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

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

Products for genes affiliated with Isolated Acth Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Isolated 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