MCID: ADR021
MIFTS: 46

Adrenocorticotropic Hormone Deficiency

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Adrenocorticotropic Hormone Deficiency

MalaCards integrated aliases for Adrenocorticotropic Hormone Deficiency:

Name: Adrenocorticotropic Hormone Deficiency 54 12 71 13 14
Acth Deficiency, Isolated 50 71 69
Congenital Isolated Acth Deficiency 50 56
Isolated Adrenocorticotropic Hormone Deficiency 50
Adrenocorticotropic Hormone Deficiency 69
Isolated Acth Deficiency 50
Iad 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
adrenocorticotropic hormone deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Adrenocorticotropic Hormone Deficiency

OMIM : 54
Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases; prolonged cholestatic jaundice; and very low plasma ACTH levels with no significant response to CRH (122560). Plasma cortisol levels are also extremely low (Vallette-Kasic et al., 2005). TBX19 is required for initiation of transcription of the POMC gene (176830), which produces the precursor peptide from which ACTH is derived (Lamolet et al., 2001). (201400)

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 adrenal hypoplasia, fatigue and hyponatremia. 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

UniProtKB/Swiss-Prot : 71 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.

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

Wikipedia : 72 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 via clinical synopsis from OMIM:

54

Endocrine:
adrenal hypoplasia
hpoadrenotropism

Lab:
acth deficiency
plasma cortisol low

Metabolic:
fasting hypoglycemia


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 adrenal hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000835
2 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
3 hyponatremia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002902
4 hypotension 56 32 hallmark (90%) Very frequent (99-80%) HP:0002615
5 hypoglycemic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0002173
6 neonatal hypoglycemia 56 32 obligate (100%) Obligate (100%) HP:0001998
7 prolonged neonatal jaundice 56 32 frequent (33%) Frequent (79-30%) HP:0006579
8 hepatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012115
9 decreased circulating cortisol level 56 32 obligate (100%) Obligate (100%) HP:0008163
10 adrenocorticotropin deficient adrenal insufficiency 56 32 obligate (100%) Obligate (100%) HP:0011735
11 hyperkalemia 56 Excluded (0%)
12 fasting hypoglycemia 32 HP:0003162
13 adrenocorticotropic hormone deficiency 32 HP:0011748

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 TRHR PCSK1 PCSK2 TBX19

Drugs & Therapeutics for Adrenocorticotropic Hormone Deficiency

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

(show top 50) (show all 67)
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
Epinephrine Approved, Vet_approved Phase 1 51-43-4 5816
18 Racepinephrine Approved Phase 1
19 Epinephryl borate Phase 1
20 Adrenergic Agents Phase 1
21 Adrenergic Agonists Phase 1
22 Adrenergic alpha-Agonists Phase 1
23 Adrenergic beta-Agonists Phase 1
24 Anti-Asthmatic Agents Phase 1
25 Autonomic Agents Phase 1
26 Bronchodilator Agents Phase 1
27 Mydriatics Phase 1
28 Peripheral Nervous System Agents Phase 1
29 Respiratory System Agents Phase 1
30 Vasoconstrictor Agents Phase 1
31
Cosyntropin Approved 16960-16-0 16129617
32
Zinc Approved 7440-66-6 32051 23994
33
Captopril Approved 62571-86-2 44093
34
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
35
Losartan Approved 114798-26-4 3961
36
Cholecalciferol Approved, Nutraceutical 67-97-0 6221 10883523 5280795
37
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
38
Angiotensin II Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
39 Calcium, Dietary
40 Vitamins
41 Antibodies
42 Immunoglobulins
43 Estrogens
44 Gastrointestinal Agents
45 glucagon
46 Glucagon-Like Peptide 1
47 Hypoglycemic Agents
48 Incretins
49 insulin
50 Insulin, Globin Zinc

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
2 Modified-release Compared to Conventional Hydrocortisone on Diurnal Fatigue in Secondary Hypoadrenalism Enrolling by invitation NCT02282150 Phase 4 Hydrocortisone;Plenadren
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 Setmelanotide;Placebo
5 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
6 RM-493 Treatment Trial in Proopiomelanocortin (POMC) Deficient Patients Recruiting NCT02507492 Phase 2 RM-493
7 Study to Evaluate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RM-493 Administered to Healthy, Obese, Non-diabetic Volunteers Completed NCT02431442 Phase 1 RM-493;Placebo
8 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
9 Cortisol Response to Adrenocorticotrophin (ACTH) in Acute Stress Unknown status NCT00493389 Adrenocorticotrophic hormone
10 Epidural Analgesia, Beta-Endorphin Concentrations in Colostrum, and Infant Neurobehavior as Breast-Feeding Predictors Unknown status NCT01191970
11 Estromineral Serena Plus and Symptomatic Menopause Unknown status NCT01730989
12 Isolated ACTH Deficiency in Patients With Hashimoto Thyroiditis Completed NCT00552487 synacthen
13 Adrenal Function in Critical Illness Completed NCT00156767
14 The Glucagon Stimulation Test for Evaluation of Adult Growth Hormone Deficiency and Adrenocorticotropic Axis Completed NCT01282164
15 Drug Use Investigation of Somatropin for GHD-ADULTS. Completed NCT00601419 Somatropin
16 Ante-hypophyseal Dysfunctions in Children Following Moderate to Severe Traumatic Brain Injuries Active, not recruiting NCT01250132
17 Maternal Serum Ferritin and Low Neonatal Birth Weight Active, not recruiting NCT02738463
18 Cohort Study on Traditional Chinese Medicine Diagnosis and Treatment of Children With Henoch-Schonlein Purpura Nephritis Enrolling by invitation NCT02878018 Qi ji shen kang lotion;Zhubai lotion;More Kidney lotion;Angiotensin-converting enzyme inhibitor orangiotensin II receptor blocker ;Tripterygium Glycosides;Adrenocorticotropic hormone ;Other Immunosuppressant

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, Breast, Brain, Lung, Heart

Publications for Adrenocorticotropic Hormone Deficiency

Articles related to Adrenocorticotropic Hormone Deficiency:

(show all 35)
id Title Authors Year
1
Isolated Adrenocorticotropic Hormone Deficiency Caused by Nivolumab in a Patient with Metastatic Lung Cancer. ( 28824067 )
2017
2
Isolated Adrenocorticotropic Hormone Deficiency Following Chronic Subdural Hematoma in an Elderly Man: Is There a Connection? ( 28768968 )
2017
3
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections. ( 28458651 )
2017
4
Isolated adrenocorticotropic hormone deficiency possibly caused by nivolumab in a metastatic melanoma patient. ( 27440178 )
2016
5
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature. ( 27749582 )
2016
6
Treatable Bedridden Elderly -Recovery from Flexion Contracture after Cortisol Replacement in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. ( 27746435 )
2016
7
Isolated adrenocorticotropic hormone deficiency associated with nivolumab therapy. ( 27608187 )
2016
8
A case of isolated adrenocorticotropic hormone deficiency: a rare but possible cause of hypercalcemia. ( 25870516 )
2015
9
Heart Failure Caused by Atrial Fibrillation in a Patient with Isolated Adrenocorticotropic Hormone Deficiency and Hashimoto's Thyroiditis. ( 25774257 )
2014
10
Long QT Syndrome Associated with Adrenal Insufficiency in a Patient with Isolated Adrenocorticotropic Hormone Deficiency. ( 25318797 )
2014
11
Isolated adrenocorticotropic hormone deficiency development during chemotherapy for gastric cancer: a case report. ( 24597969 )
2014
12
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a woman. ( 24251125 )
2013
13
Isolated adrenocorticotropic hormone deficiency associated with Hashimoto's disease and thyroid crisis triggered by head trauma. Case report. ( 22278027 )
2012
14
Depressive state due to isolated adrenocorticotropic hormone deficiency underlies school refusal. ( 22443249 )
2012
15
Case of isolated adrenocorticotropic hormone deficiency mimicking major depressive disorder. ( 21507142 )
2011
16
Is adrenocorticotropic hormone deficiency really rare in patients with idiopathic growth hormone deficiency and normal thyroid function tests? ( 21042000 )
2011
17
Improved response of growth hormone to growth hormone-releasing hormone and reversible chronic thyroiditis after hydrocortisone replacement in isolated adrenocorticotropic hormone deficiency. ( 21318995 )
2009
18
Isolated adrenocorticotropic hormone deficiency accompanied with delirium. ( 19566778 )
2009
19
Type 2 diabetes mellitus accompanied by isolated adrenocorticotropic hormone deficiency and gastric cancer. ( 19525593 )
2009
20
Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl. ( 18825881 )
2008
21
Isolated adrenocorticotropic hormone deficiency presenting with psychomotor retardation. ( 17587281 )
2007
22
Isolated adrenocorticotropic hormone deficiency presenting with delirium. ( 17728437 )
2007
23
Isolated adrenocorticotropic hormone deficiency with transient thyroiditis inducing an adrenal crisis. ( 17409760 )
2007
24
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
25
Isolated adrenocorticotropic hormone deficiency presenting with hypercalcemia in a patient on long-term hemodialysis. ( 12900850 )
2003
26
Isolated adrenocorticotropic hormone deficiency, thyroid autoimmunity, and transient hyperprolactinemia. ( 11421554 )
2001
27
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
28
Reversibly increased lymphocyte response to mitogens in a young man with isolated adrenocorticotropic hormone deficiency. ( 9144012 )
1997
29
Isolated adrenocorticotropic hormone deficiency: an autopsy case of adrenal crisis. A case report. ( 9185943 )
1997
30
Acute lymphoblastic leukemia with isolated adrenocorticotropic hormone deficiency. ( 9392357 )
1997
31
Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. ( 8882784 )
1996
32
Isolated adrenocorticotropic hormone deficiency associated with growth hormone deficiency and empty sella. ( 7496087 )
1995
33
Isolated adrenocorticotropic hormone deficiency due to probable lymphocytic hypophysitis in a man. ( 8006333 )
1994
34
Isolated adrenocorticotropic hormone deficiency secondary to hypothalamic deficit of corticotropin releasing hormone. ( 1313844 )
1992
35
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:

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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