MCID: ADR021
MIFTS: 44

Adrenocorticotropic Hormone Deficiency malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Adrenocorticotropic Hormone Deficiency

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OMIM:45 Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal... (201400) more...

MalaCards based summary: Adrenocorticotropic Hormone Deficiency, also known as acth deficiency, isolated, is related to hypothyroidism and growth hormone deficiency, and has symptoms including autosomal recessive inheritance, adrenal hypoplasia and fasting hypoglycemia. An important gene associated with Adrenocorticotropic Hormone Deficiency is TBX19 (T-box 19), and among its related pathways are Selected targets of CREB1 and G alpha (s) signalling events. The compounds clomipramine and hcrh have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and heart, and related mouse phenotypes are homeostasis/metabolism and endocrine/exocrine gland.

Wikipedia:63 Adrenocorticotropic hormone deficiency (ACTH deficiency) is a result of a decreased or absent production... more...

Aliases & Classifications for Adrenocorticotropic Hormone Deficiency

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Adrenocorticotropic Hormone Deficiency, Aliases & Descriptions:

Name: Adrenocorticotropic Hormone Deficiency 45 10
Acth Deficiency, Isolated 45 41 60
Congenital Isolated Acth Deficiency 41 47
 
Isolated Adrenocorticotropic Hormone Deficiency 41
Adrenocorticotropic Hormone Deficiency 60
Isolated Acth Deficiency 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
congenital isolated acth deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 201400
Orphanet47 199296
ICD10 via Orphanet26 E23.6

Related Diseases for Adrenocorticotropic Hormone Deficiency

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Diseases related to Adrenocorticotropic Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism30.7POMC, PCSK1
2growth hormone deficiency30.6CRH, POMC
3hypoglycemia30.5CRH, POMC
4hyperprolactinemia30.4CRH, POMC
5hypopituitarism30.4CRH, POMC
6addison's disease30.0CRH, PCSK1, POMC
7acth deficiency29.8TBX19, CRH, PCSK1, POMC
8thyroiditis10.6
9late-onset isolated acth deficiency10.4
10major depressive disorder and accelerated response to antidepressant drug treatment10.4CRH
11hypercalcemia10.4
12lymphocytic hypophysitis10.4
13hypoaldosteronism10.3
14adrenal carcinoma10.3POMC
15pituitary carcinoma10.3POMC
16obesity, adrenal insufficiency, and red hair due to pomc deficiency10.2
17common variable immunodeficiency10.2
18leukemia10.2
19thyroid crisis10.2
20atrial fibrillation10.2
21long qt syndrome10.2
22lymphoblastic leukemia10.2
23citrullinemia10.1
24autoimmune hepatitis10.1
25crohn's disease10.1
26focal segmental glomerulosclerosis10.1
27hepatitis10.1
28hypoglycemic coma10.1
29graves' disease10.1
30frozen shoulder10.1
31glomerulosclerosis10.1
32thyrotoxicosis10.1
33hyporeninemic hypoaldosteronism10.1
34pituicytoma10.1
35kallmann syndrome10.1PCSK1, STS
36sheehan syndrome10.1CRH, POMC
37pituitary-dependent cushing's disease10.1POMC, CRH
38gonadal disease10.1CRH, POMC
39nelson syndrome10.1CRH, POMC
40melancholia10.1POMC, CRH
41hypoadrenalism10.1POMC, CRH
42west syndrome10.1CRH, POMC
43pituitary gland disease10.1CRH, POMC
44endogenous depression10.1POMC, CRH
45amenorrhea10.1CRH, POMC
46chronic fatigue syndrome10.1CRH, POMC
47adrenal gland hyperfunction10.1CRH, POMC
48adrenal adenoma10.1CRH, POMC
49congenital adrenal hyperplasia10.1CRH, POMC
50panic disorder10.0POMC, CRH

Graphical network of the top 20 diseases related to Adrenocorticotropic Hormone Deficiency:



Diseases related to adrenocorticotropic hormone deficiency

Symptoms for Adrenocorticotropic Hormone Deficiency

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Symptoms by clinical synopsis from OMIM:

201400

Clinical features from OMIM:

201400

HPO human phenotypes related to Adrenocorticotropic Hormone Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 adrenal hypoplasia HP:0000835
3 fasting hypoglycemia HP:0003162
4 decreased circulating cortisol level HP:0008163
5 adrenocorticotropic hormone deficiency HP:0011748

Drugs & Therapeutics for Adrenocorticotropic Hormone Deficiency

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Drug clinical trials:

Search ClinicalTrials for Adrenocorticotropic Hormone Deficiency

Search NIH Clinical Center for Adrenocorticotropic Hormone Deficiency

Genetic Tests for Adrenocorticotropic Hormone Deficiency

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Anatomical Context for Adrenocorticotropic Hormone Deficiency

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MalaCards organs/tissues related to Adrenocorticotropic Hormone Deficiency:

31
Pituitary, Thyroid, Heart, Testes

Animal Models for Adrenocorticotropic Hormone Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Adrenocorticotropic Hormone Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.7PCSK1, ALB, CRH, TBX19, POMC
2MP:00053797.4TBX19, CRH, ALB, PCSK1, POMC

Publications for Adrenocorticotropic Hormone Deficiency

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Articles related to Adrenocorticotropic Hormone Deficiency:

(show all 28)
idTitleAuthorsYear
1
A case of isolated adrenocorticotropic hormone deficiency: a rare but possible cause of hypercalcemia. (25870516)
2015
2
Long QT Syndrome Associated with Adrenal Insufficiency in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. (25318797)
2014
3
Heart Failure Caused by Atrial Fibrillation in a Patient with Isolated Adrenocorticotropic Hormone Deficiency and Hashimoto's Thyroiditis. (25774257)
2014
4
Isolated adrenocorticotropic hormone deficiency development during chemotherapy for gastric cancer: a case report. (24597969)
2014
5
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a woman. (24251125)
2013
6
Depressive state due to isolated adrenocorticotropic hormone deficiency underlies school refusal. (22443249)
2012
7
Isolated adrenocorticotropic hormone deficiency associated with Hashimoto's disease and thyroid crisis triggered by head trauma. Case report. (22278027)
2012
8
Case of isolated adrenocorticotropic hormone deficiency mimicking major depressive disorder. (21507142)
2011
9
Is adrenocorticotropic hormone deficiency really rare in patients with idiopathic growth hormone deficiency and normal thyroid function tests? (21042000)
2011
10
Type 2 diabetes mellitus accompanied by isolated adrenocorticotropic hormone deficiency and gastric cancer. (19525593)
2009
11
Improved response of growth hormone to growth hormone-releasing hormone and reversible chronic thyroiditis after hydrocortisone replacement in isolated adrenocorticotropic hormone deficiency. (21318995)
2009
12
Isolated adrenocorticotropic hormone deficiency accompanied with delirium. (19566778)
2009
13
Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl. (18825881)
2008
14
Isolated adrenocorticotropic hormone deficiency presenting with delirium. (17728437)
2007
15
Isolated adrenocorticotropic hormone deficiency with transient thyroiditis inducing an adrenal crisis. (17409760)
2007
16
Isolated adrenocorticotropic hormone deficiency presenting with psychomotor retardation. (17587281)
2007
17
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. (16390921)
2006
18
Isolated adrenocorticotropic hormone deficiency presenting with hypercalcemia in a patient on long-term hemodialysis. (12900850)
2003
19
Development of growth hormone and adrenocorticotropic hormone deficiencies in patients with prenatal or perinatal-onset hypothalamic hypopituitarism having invisible or thin pituitary stalk on magnetic resonance imaging. (11523907)
2001
20
Isolated adrenocorticotropic hormone deficiency, thyroid autoimmunity, and transient hyperprolactinemia. (11421554)
2001
21
Reversibly increased lymphocyte response to mitogens in a young man with isolated adrenocorticotropic hormone deficiency. (9144012)
1997
22
Acute lymphoblastic leukemia with isolated adrenocorticotropic hormone deficiency. (9392357)
1997
23
Isolated adrenocorticotropic hormone deficiency: an autopsy case of adrenal crisis. A case report. (9185943)
1997
24
Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. (8882784)
1996
25
Isolated adrenocorticotropic hormone deficiency associated with growth hormone deficiency and empty sella. (7496087)
1995
26
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a man. (8006333)
1994
27
Isolated adrenocorticotropic hormone deficiency secondary to hypothalamic deficit of corticotropin releasing hormone. (1313844)
1992
28
Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. (1645668)
1991

Variations for Adrenocorticotropic Hormone Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Adrenocorticotropic Hormone Deficiency:

62
id Symbol AA change Variation ID SNP ID
1TBX19p.Ser128PheVAR_018387

Clinvar genetic disease variations for Adrenocorticotropic Hormone Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CRHNM_000756.2(CRH): c.-669C> Asingle nucleotide variantPathogenicrs12721510GRCh37Chr 8, 67091182: 67091182
2CRHNM_000756.2(CRH): c.-365G> Csingle nucleotide variantPathogenicrs72556399GRCh37Chr 8, 67090878: 67090878
3TBX19NM_005149.2(TBX19): c.856C> T (p.Arg286Ter)single nucleotide variantPathogenicrs74315376GRCh37Chr 1, 168274374: 168274374
4TBX19NM_005149.2(TBX19): c.383C> T (p.Ser128Phe)single nucleotide variantPathogenicrs74315377GRCh37Chr 1, 168260577: 168260577
5TBX19NM_005149.2(TBX19): c.257T> G (p.Met86Arg)single nucleotide variantPathogenicrs74315378GRCh37Chr 1, 168260451: 168260451
6TBX19TBX19, 1-BP DEL, 782AdeletionPathogenic

Expression for genes affiliated with Adrenocorticotropic Hormone Deficiency

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Search GEO for disease gene expression data for Adrenocorticotropic Hormone Deficiency.

Pathways for genes affiliated with Adrenocorticotropic Hormone Deficiency

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Pathways related to Adrenocorticotropic Hormone Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2CRH, POMC
29.2CRH, POMC
3
Show member pathways
9.1POMC, PCSK1
48.8TBX19, CRH, POMC
5
Show member pathways
8.5PCSK1, STS, POMC

Compounds for genes affiliated with Adrenocorticotropic Hormone Deficiency

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Compounds related to Adrenocorticotropic Hormone Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1clomipramine43 49 1211.8ALB, CRH
2hcrh439.6CRH, POMC
3pitressin439.6CRH, POMC
4antalarmin43 2810.6POMC, CRH
5acth 1-24439.6POMC, CRH
6estrone sulfate43 2410.6STS, ALB
711 deoxycortisol439.6CRH, POMC
8alpha msh439.6CRH, POMC
9allopregnanolone439.6CRH, POMC
10hexarelin43 2810.6CRH, POMC
11topiramate43 49 24 1212.6CRH, POMC
12betamethasone43 1210.6POMC, CRH
13mirtazapine43 49 1211.6CRH, POMC
14fenfluramine43 28 1211.6POMC, CRH
15fluoxetine43 49 28 1212.6ALB, CRH
16sertraline43 28 49 24 1213.6CRH, POMC
17naltrexone43 28 49 1212.5CRH, POMC
18ether43 4910.5POMC, CRH
19peptidylglycine439.5PCSK1, POMC
20metyrapone43 59 1211.5POMC, CRH
21cortisone43 2410.5POMC, CRH
2217-hydroxyprogesterone43 2410.5CRH, POMC
23alprazolam43 1210.5CRH, POMC
24desmopressin43 59 28 1212.5CRH, POMC
25clonazepam43 1210.4ALB, POMC
2611beta-hydroxysteroid439.4POMC, CRH
27propofol43 49 1211.4ALB, POMC
28ketoconazole43 28 24 1212.3CRH, POMC
29furosemide43 59 28 49 24 1214.3ALB, POMC
30pyridoxal 5-phosphate439.2ALB, POMC
313beta-hydroxysteroid439.2POMC, STS
32carbamazepine43 49 1211.2CRH, POMC
33spironolactone43 59 28 49 1213.1POMC, ALB, CRH
34naloxone43 28 49 1212.1CRH, ALB, POMC
35diazepam43 28 49 1212.1ALB, POMC, CRH
36thyroxine43 2410.1POMC, CRH, ALB
37gnrh439.1PCSK1, POMC, CRH
38ribonucleic acid439.0CRH, PCSK1, POMC
39indomethacin43 28 59 1212.0ALB, CRH, POMC
40dehydroepiandrosterone sulfate439.0CRH, POMC, STS
41dhea439.0STS, POMC, CRH
42forskolin43 49 1210.9PCSK1, POMC, CRH
43acth438.7CRH, PCSK1, POMC, TBX19
44creatinine438.7ALB, POMC, CRH
45aspartate438.6CRH, POMC, ALB
46estradiol43 24 1210.5CRH, ALB, STS, POMC
47progesterone43 28 59 24 1212.5POMC, CRH, PCSK1, STS
48testosterone43 59 24 1211.5ALB, STS, POMC, CRH
49estrogen438.4PCSK1, STS, POMC, CRH
50serine437.8CRH, PCSK1, STS, POMC

GO Terms for genes affiliated with Adrenocorticotropic Hormone Deficiency

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Cellular components related to Adrenocorticotropic Hormone Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:00347748.8PCSK1, POMC
2extracellular spaceGO:00056158.2CRH, ALB, PCSK1, POMC

Biological processes related to Adrenocorticotropic Hormone Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1female pregnancyGO:00075659.4CRH, STS
2peptide hormone processingGO:00164869.0PCSK1, POMC
3cellular protein metabolic processGO:00442678.2PCSK1, STS, POMC

Molecular functions related to Adrenocorticotropic Hormone Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.2CRH, POMC

Products for genes affiliated with Adrenocorticotropic Hormone Deficiency

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Sources for Adrenocorticotropic Hormone Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet