IAD
MCID: ADR021
MIFTS: 45

Adrenocorticotropic Hormone Deficiency (IAD) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Adrenocorticotropic Hormone Deficiency

Aliases & Descriptions for Adrenocorticotropic Hormone Deficiency:

Name: Adrenocorticotropic Hormone Deficiency 54 12 66 13 14
Acth Deficiency, Isolated 54 50 66 69
Congenital Isolated Acth Deficiency 50 56
Isolated Adrenocorticotropic Hormone Deficiency 50
Adrenocorticotropic Hormone Deficiency 69
Isolated Acth Deficiency 50
Iad 66

Characteristics:

Orphanet epidemiological data:

56
congenital isolated acth deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
adrenocorticotropic hormone deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 201400
Disease Ontology 12 DOID:0080150
Orphanet 56 ORPHA199296
ICD10 via Orphanet 34 E23.6
MeSH 42 D007018

Summaries for Adrenocorticotropic Hormone Deficiency

OMIM : 54 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 late-onset isolated acth deficiency and acth deficiency, and has symptoms including fatigue, hypotension and hepatitis. An important gene associated with Adrenocorticotropic Hormone Deficiency is TBX19 (T-Box 19), and among its related pathways/superpathways are Neuroscience and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Hydrocortisone and Butyric Acid have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and testes, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Disease Ontology : 12 A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.

UniProtKB/Swiss-Prot : 66 ACTH deficiency, isolated: A disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low.

Wikipedia : 71 Adrenocorticotropic hormone deficiency (ACTH deficiency) is a result of a decreased or absent production... more...

Related Diseases for Adrenocorticotropic Hormone Deficiency

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



Diseases related to Adrenocorticotropic Hormone Deficiency

Symptoms & Phenotypes for Adrenocorticotropic Hormone Deficiency

Symptoms by clinical synopsis from OMIM:

201400

Clinical features from OMIM:

201400

Human phenotypes related to Adrenocorticotropic Hormone Deficiency:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 hypotension 56 32 Very frequent (99-80%) HP:0002615
3 hepatitis 56 32 Occasional (29-5%) HP:0012115
4 hyponatremia 56 32 Very frequent (99-80%) HP:0002902
5 prolonged neonatal jaundice 56 32 Frequent (79-30%) HP:0006579
6 adrenal hypoplasia 56 32 Very frequent (99-80%) HP:0000835
7 neonatal hypoglycemia 56 32 Obligate (100%) HP:0001998
8 decreased circulating cortisol level 56 32 Obligate (100%) HP:0008163
9 adrenocorticotropin deficient adrenal insufficiency 56 32 Obligate (100%) HP:0011735
10 hypoglycemic seizures 56 32 Frequent (79-30%) HP:0002173
11 hyperkalemia 56 Excluded (0%)
12 adrenocorticotropic hormone deficiency 32 HP:0011748
13 fasting hypoglycemia 32 HP:0003162

MGI Mouse Phenotypes related to Adrenocorticotropic Hormone Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.55 PCSK1 PCSK2 POMC TBX19 TRHR
2 homeostasis/metabolism MP:0005376 9.35 PCSK1 PCSK2 POMC TBX19 TRHR
3 reproductive system MP:0005389 8.92 PCSK1 PCSK2 TBX19 TRHR

Drugs & Therapeutics for Adrenocorticotropic Hormone Deficiency

Drugs for Adrenocorticotropic Hormone Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
2
Butyric Acid Experimental Phase 4 107-92-6 264
3 Adrenocorticotropic Hormone Phase 4,Phase 2,Phase 1
4 beta-endorphin Phase 4,Phase 2
5 Hormone Antagonists Phase 4,Phase 2
6 Hormones Phase 4,Phase 2
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
8 Melanocyte-Stimulating Hormones Phase 4,Phase 2
9 Cortisol succinate Phase 4
10 Hydrocortisone 17-butyrate 21-propionate Phase 4
11 Hydrocortisone acetate Phase 4
12 Immunoglobulin A Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Hydrocortisone-17-butyrate Phase 4
15 Endorphins Phase 2
16 Neurotransmitter Agents Phase 2,Phase 1
17 insulin Phase 2
18 Insulin, Globin Zinc Phase 2
19
Epinephrine Approved, Vet_approved Phase 1 51-43-4 5816
20 Epinephryl borate Phase 1
21 Racepinephrine Phase 1
22 Adrenergic Agents Phase 1
23 Adrenergic Agonists Phase 1
24 Adrenergic alpha-Agonists Phase 1
25 Adrenergic beta-Agonists Phase 1
26 Anti-Asthmatic Agents Phase 1
27 Autonomic Agents Phase 1
28 Bronchodilator Agents Phase 1
29 Mydriatics Phase 1
30 Peripheral Nervous System Agents Phase 1
31 Respiratory System Agents Phase 1
32 Vasoconstrictor Agents Phase 1
33 Corticotropin-Releasing Hormone Phase 1
34
Cosyntropin Approved 16960-16-0 16129617
35
Zinc Approved 7440-66-6 32051 23994
36
Clonidine Approved 4205-90-7 2803
37
Menthol Approved 2216-51-5 16666
38
Tropicamide Approved 1508-75-4 5593
39
Captopril Approved 62571-86-2 44093
40
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
41
Cyclosporine Approved, Investigational, Vet_approved 79217-60-0, 59865-13-3 5284373 6435893
42
Losartan Approved 114798-26-4 3961
43
Cholecalciferol Approved, Nutraceutical 67-97-0 6221 10883523 5280795
44 Calcium, Dietary
45 vitamin d
46 Vitamins
47 Antibodies
48 Immunoglobulins
49 Estrogens
50 Gastrointestinal Agents

Interventional clinical trials:

(show all 23)
id Name Status NCT ID Phase
1 Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4
2 Modified-release Compared to Conventional Hydrocortisone on Diurnal Fatigue in Secondary Hypoadrenalism Enrolling by invitation NCT02282150 Phase 4
3 A Study to Evaluate the Efficacy of Somatropin in Adults With Growth Hormone Deficiency Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
4 Setmelanotide for the Treatment of Early-Onset POMC Deficiency Obesity Recruiting NCT02896192 Phase 2, Phase 3
5 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
6 Leptin to Treat Lipodystrophy Completed NCT00005905 Phase 2
7 A Study to Explore the Safety and Tolerability of Acthar in Patients With Amyotrophic Lateral Sclerosis Completed NCT01906658 Phase 2
8 RM-493 Treatment Trial in Proopiomelanocortin (POMC) Deficient Patients Recruiting NCT02507492 Phase 2
9 A Study to Assess the Efficacy and Safety of H.P. Acthar® Gel in the Treatment of Subjects With Amyotrophic Lateral Sclerosis Not yet recruiting NCT03068754 Phase 2
10 Study to Evaluate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RM-493 Administered to Healthy, Obese, Non-diabetic Volunteers Completed NCT02431442 Phase 1
11 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1
12 Cortisol Response to Adrenocorticotrophin (ACTH) in Acute Stress Unknown status NCT00493389
13 Epidural Analgesia, Beta-Endorphin Concentrations in Colostrum, and Infant Neurobehavior as Breast-Feeding Predictors Unknown status NCT01191970
14 Estromineral Serena Plus and Symptomatic Menopause Unknown status NCT01730989
15 Isolated ACTH Deficiency in Patients With Hashimoto Thyroiditis Completed NCT00552487
16 Adrenal Function in Critical Illness Completed NCT00156767
17 The Glucagon Stimulation Test for Evaluation of Adult Growth Hormone Deficiency and Adrenocorticotropic Axis Completed NCT01282164
18 Drug Use Investigation of Somatropin for GHD-ADULTS. Completed NCT00601419
19 Ante-hypophyseal Dysfunctions in Children Following Moderate to Severe Traumatic Brain Injuries Recruiting NCT01250132
20 Chromosome 18 Clinical Research Center Recruiting NCT00227253
21 Inhalation/Nasal Corticosteroids and Prevalence of Hypothalamic-pituitary-adrenal (HPA) Axis Suppression in Human Immunodeficiency Virus (HIV)-Patients Recruiting NCT02501486
22 Maternal Serum Ferritin and Low Neonatal Birth Weight Active, not recruiting NCT02738463
23 Cohort Study on Traditional Chinese Medicine Diagnosis and Treatment of Children With Henoch-Schonlein Purpura Nephritis Enrolling by invitation NCT02878018

Search NIH Clinical Center for Adrenocorticotropic Hormone Deficiency

Genetic Tests for Adrenocorticotropic Hormone Deficiency

Anatomical Context for Adrenocorticotropic Hormone Deficiency

MalaCards organs/tissues related to Adrenocorticotropic Hormone Deficiency:

39
Pituitary, Thyroid, Testes, Heart

Publications for Adrenocorticotropic Hormone Deficiency

Articles related to Adrenocorticotropic Hormone Deficiency:

(show all 33)
id Title Authors Year
1
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections. ( 28458651 )
2017
2
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature. ( 27749582 )
2016
3
Treatable Bedridden Elderly -Recovery from Flexion Contracture after Cortisol Replacement in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. ( 27746435 )
2016
4
Isolated adrenocorticotropic hormone deficiency associated with nivolumab therapy. ( 27608187 )
2016
5
Isolated adrenocorticotropic hormone deficiency possibly caused by nivolumab in a metastatic melanoma patient. ( 27440178 )
2016
6
A case of isolated adrenocorticotropic hormone deficiency: a rare but possible cause of hypercalcemia. ( 25870516 )
2015
7
Isolated adrenocorticotropic hormone deficiency development during chemotherapy for gastric cancer: a case report. ( 24597969 )
2014
8
Heart Failure Caused by Atrial Fibrillation in a Patient with Isolated Adrenocorticotropic Hormone Deficiency and Hashimoto's Thyroiditis. ( 25774257 )
2014
9
Long QT Syndrome Associated with Adrenal Insufficiency in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. ( 25318797 )
2014
10
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a woman. ( 24251125 )
2013
11
Depressive state due to isolated adrenocorticotropic hormone deficiency underlies school refusal. ( 22443249 )
2012
12
Isolated adrenocorticotropic hormone deficiency associated with Hashimoto's disease and thyroid crisis triggered by head trauma. Case report. ( 22278027 )
2012
13
Is adrenocorticotropic hormone deficiency really rare in patients with idiopathic growth hormone deficiency and normal thyroid function tests? ( 21042000 )
2011
14
Case of isolated adrenocorticotropic hormone deficiency mimicking major depressive disorder. ( 21507142 )
2011
15
Type 2 diabetes mellitus accompanied by isolated adrenocorticotropic hormone deficiency and gastric cancer. ( 19525593 )
2009
16
Improved response of growth hormone to growth hormone-releasing hormone and reversible chronic thyroiditis after hydrocortisone replacement in isolated adrenocorticotropic hormone deficiency. ( 21318995 )
2009
17
Isolated adrenocorticotropic hormone deficiency accompanied with delirium. ( 19566778 )
2009
18
Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl. ( 18825881 )
2008
19
Isolated adrenocorticotropic hormone deficiency with transient thyroiditis inducing an adrenal crisis. ( 17409760 )
2007
20
Isolated adrenocorticotropic hormone deficiency presenting with delirium. ( 17728437 )
2007
21
Isolated adrenocorticotropic hormone deficiency presenting with psychomotor retardation. ( 17587281 )
2007
22
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
23
Isolated adrenocorticotropic hormone deficiency presenting with hypercalcemia in a patient on long-term hemodialysis. ( 12900850 )
2003
24
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
25
Isolated adrenocorticotropic hormone deficiency, thyroid autoimmunity, and transient hyperprolactinemia. ( 11421554 )
2001
26
Reversibly increased lymphocyte response to mitogens in a young man with isolated adrenocorticotropic hormone deficiency. ( 9144012 )
1997
27
Isolated adrenocorticotropic hormone deficiency: an autopsy case of adrenal crisis. A case report. ( 9185943 )
1997
28
Acute lymphoblastic leukemia with isolated adrenocorticotropic hormone deficiency. ( 9392357 )
1997
29
Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. ( 8882784 )
1996
30
Isolated adrenocorticotropic hormone deficiency associated with growth hormone deficiency and empty sella. ( 7496087 )
1995
31
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a man. ( 8006333 )
1994
32
Isolated adrenocorticotropic hormone deficiency secondary to hypothalamic deficit of corticotropin releasing hormone. ( 1313844 )
1992
33
Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. ( 1645668 )
1991

Variations for Adrenocorticotropic Hormone Deficiency

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

66
id Symbol AA change Variation ID SNP ID
1 TBX19 p.Ser128Phe VAR_018387 rs74315377

ClinVar genetic disease variations for Adrenocorticotropic Hormone Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX19 NM_005149.2(TBX19): c.856C> T (p.Arg286Ter) single nucleotide variant Pathogenic rs74315376 GRCh37 Chromosome 1, 168274374: 168274374
2 TBX19 NM_005149.2(TBX19): c.383C> T (p.Ser128Phe) single nucleotide variant Pathogenic rs74315377 GRCh37 Chromosome 1, 168260577: 168260577
3 TBX19 NM_005149.2(TBX19): c.257T> G (p.Met86Arg) single nucleotide variant Pathogenic rs74315378 GRCh37 Chromosome 1, 168260451: 168260451
4 TBX19 NM_005149.2(TBX19): c.782delA (p.Asn261Ilefs) deletion Pathogenic rs730880274 GRCh37 Chromosome 1, 168274300: 168274300
5 TBX19 NM_005149.2(TBX19): c.535C> T (p.Arg179Ter) single nucleotide variant Likely pathogenic rs200197424 GRCh38 Chromosome 1, 168293210: 168293210

Expression for Adrenocorticotropic Hormone Deficiency

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

Pathways for Adrenocorticotropic Hormone Deficiency

GO Terms for Adrenocorticotropic Hormone Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 transport vesicle GO:0030133 9.16 PCSK1 PCSK2
2 secretory granule GO:0030141 8.96 PCSK2 POMC
3 secretory granule lumen GO:0034774 8.8 PCSK1 PCSK2 POMC

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

id Name GO ID Score Top Affiliating Genes
1 protein processing GO:0016485 8.96 PCSK1 PCSK2
2 peptide hormone processing GO:0016486 8.8 PCSK1 PCSK2 POMC

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

id Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 8.62 PCSK1 PCSK2

Sources for Adrenocorticotropic Hormone Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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