MCID: PRM340
MIFTS: 36

Primary Adrenal Insufficiency

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Primary Adrenal Insufficiency

MalaCards integrated aliases for Primary Adrenal Insufficiency:

Name: Primary Adrenal Insufficiency 58 29

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Orphanet 58 ORPHA101958

Summaries for Primary Adrenal Insufficiency

MalaCards based summary : Primary Adrenal Insufficiency is related to autoimmune addison disease and histoplasmosis. An important gene associated with Primary Adrenal Insufficiency is CIITA (Class II Major Histocompatibility Complex Transactivator), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Actin Nucleation by ARP-WASP Complex. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testes.

Related Diseases for Primary Adrenal Insufficiency

Diseases in the Rare Adrenal Disease family:

Secondary Adrenal Insufficiency Acute Adrenal Insufficiency
Acquired Chronic Primary Adrenal Insufficiency Chronic Primary Adrenal Insufficiency
Primary Adrenal Insufficiency

Diseases related to Primary Adrenal Insufficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 212)
# Related Disease Score Top Affiliating Genes
1 autoimmune addison disease 32.2 HLA-DRB1 CYP21A2
2 histoplasmosis 29.9 HLA-DRB1 HLA-DQA1
3 graft-versus-host disease 29.3 HLA-DRB1 HLA-DQB1
4 pulmonary tuberculosis 29.0 HLA-DRB1 HLA-DQB1
5 graves' disease 28.9 HLA-DRB1 HLA-DQB1 HLA-DQA1
6 autoimmune disease 28.9 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
7 hashimoto thyroiditis 28.7 HLA-DRB1 HLA-DQB1 HLA-DQA1
8 lupus erythematosus 28.7 HLA-DRB1 HLA-DQB1 HLA-DQA1
9 systemic lupus erythematosus 28.0 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
10 celiac disease 1 27.7 HLA-DRB1 HLA-DQB1 HLA-DQA1 CYP21A2 CIITA
11 diabetes mellitus, insulin-dependent 27.7 HLA-DRB1 HLA-DQB1 HLA-DQA1 CYP21A2 CIITA
12 chronic primary adrenal insufficiency 12.6
13 genetic chronic primary adrenal insufficiency 12.4
14 acquired chronic primary adrenal insufficiency 12.4
15 hypoadrenocorticism, familial 12.2
16 nephrotic syndrome, type 14 12.2
17 familial glucocorticoid deficiency 11.8
18 acute adrenal insufficiency 11.6
19 achalasia-addisonianism-alacrima syndrome 11.6
20 sphingosine phosphate lyase insufficiency syndrome 11.6
21 adrenomyodystrophy 11.3
22 hypoaldosteronism 11.3
23 x-linked cerebral adrenoleukodystrophy 11.3
24 lipoid congenital adrenal hyperplasia 10.5
25 dowling-degos disease 1 10.3
26 adrenomyeloneuropathy 10.3
27 adrenoleukodystrophy 10.3
28 hypoglycemia 10.3
29 hypogonadism 10.2
30 antiphospholipid syndrome 10.2
31 hypogonadotropism 10.2
32 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.2
33 autoimmune polyendocrine syndrome 10.2
34 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.1
35 lymphoma 10.1
36 hypothyroidism 10.1
37 nr0b1-related adrenal hypoplasia congenita 10.1
38 polyendocrinopathy 10.1
39 immune deficiency disease 10.0
40 adrenal hypoplasia, congenital 10.0
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
42 metabolic acidosis 10.0
43 hypogonadotropic hypogonadism 10.0
44 nephrotic syndrome 10.0
45 sphingolipidosis 10.0
46 acquired immunodeficiency syndrome 10.0
47 thyroiditis 10.0
48 secondary adrenal insufficiency 10.0
49 thrombophilia due to thrombin defect 10.0
50 cryptorchidism, unilateral or bilateral 10.0

Graphical network of the top 20 diseases related to Primary Adrenal Insufficiency:



Diseases related to Primary Adrenal Insufficiency

Symptoms & Phenotypes for Primary Adrenal Insufficiency

Drugs & Therapeutics for Primary Adrenal Insufficiency

Drugs for Primary Adrenal Insufficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
7
Cortisone Experimental Phase 4 53-06-5 222786
8 Epinephryl borate Phase 4
9 Hydrocortisone hemisuccinate Phase 4
10 Hydrocortisone 17-butyrate 21-propionate Phase 4
11 Hormones Phase 4
12 Autonomic Agents Phase 4
13 Hydrocortisone-17-butyrate Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Antiemetics Phase 4
16 Gastrointestinal Agents Phase 4
17 HIV Protease Inhibitors Phase 4
18
protease inhibitors Phase 4
19 Hormone Antagonists Phase 4
20 BB 1101 Phase 4
21 Antineoplastic Agents, Hormonal Phase 4
22 glucocorticoids Phase 4
23
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 3 53-43-0 9860744
24 Adjuvants, Immunologic Phase 3
25 DHEA (Dehydroepiandrosterone) Phase 3
26 Immunologic Factors Phase 3
27
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
28 Neurotransmitter Agents Phase 2
29 Sympathomimetics Phase 2
30 Adrenergic Agonists Phase 2
31 Anti-Asthmatic Agents Phase 2
32 Adrenergic beta-Agonists Phase 2
33 Vasoconstrictor Agents Phase 2
34 Respiratory System Agents Phase 2
35 Adrenergic Agents Phase 2
36 Bronchodilator Agents Phase 2
37 Mydriatics Phase 2
38 insulin Phase 2
39 Insulin, Globin Zinc Phase 2
40
Cosyntropin Approved 16960-16-0 16129617

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Randomized, Controlled, Multi-Centre Trial on the Effects of Dual-release Hydrocortisone Preparations Versus Conventional Glucocorticoid Replacement Therapy in Patients Affected by Primary and Secondary Adrenal Insufficiency. DREAM Trial. Completed NCT02277587 Phase 4 Plenadren;Conventional glucocorticoid therapy
2 A Dose-response Study of Markers of Glucocorticoid Effects (DOSCORT): A Single-blinded, Randomized, 2-dose, Cross-over Study Not yet recruiting NCT03210545 Phase 4 Dexamethasone
3 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3 dehydroepiandrosterone
4 A, Randomised, Controlled, Two-armed, Two-period Cross-over, Multi-centre Phase II/III Study to Assess the Safety and Pharmacokinetics of Once-daily Oral Modified-release Hydrocortisone in Patients With Adrenal Insufficiency Completed NCT00915343 Phase 2, Phase 3 hydrocortisone (modified release), oral tablet 20 and 5 mg;Hydrocortisone, oral tablet, 10 mg
5 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
6 Effect of Cortisol on Physical Exertion in Patients With Primary Adrenal Unknown status NCT01847690 Phase 2 Hydrocortisone
7 Pharmacokinetics of Hydrocortisone After Subcutaneous Administration Compared With Intramuscular Injection in Chronic Adrenal Insufficiency Completed NCT01450930 Phase 2 Hydrocortisone intramuscular first;Hydrocortisone subcutaneously first
8 Vaginal Prednisone Administration for Prevention of Adrenal Crisis - a Bioequivalence Study Completed NCT02689960 Phase 2 100mg prednisone suppository
9 Continuous Subcutaneous Hydrocortisone Infusion In Addison`s Disease and Type 1 Diabetes Completed NCT01840189 Phase 2
10 Cardiovascular Status in Patients With Chronic Cortisol Deficiency (Adrenal Insufficiency) Completed NCT03426319
11 Adrenal Function in Critical Illness Completed NCT00156767
12 Residual Secretion of Adrenal Steroid Hormones in Addison's Disease Recruiting NCT03793114

Search NIH Clinical Center for Primary Adrenal Insufficiency

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dexamethasone
dexamethasone acetate
DEXAMETHASONE ACETATE PWDR
Dexamethasone phosphate
Dexamethasone sodium phosphate
DEXAMETHASONE SODIUM PHOSPHATE PWDR
Fludrocortisone
fluorocortisol acetate

Genetic Tests for Primary Adrenal Insufficiency

Genetic tests related to Primary Adrenal Insufficiency:

# Genetic test Affiliating Genes
1 Primary Adrenal Insufficiency 29

Anatomical Context for Primary Adrenal Insufficiency

MalaCards organs/tissues related to Primary Adrenal Insufficiency:

40
Thyroid, Brain, Testes, Bone, Pituitary, B Cells, Adrenal Gland

Publications for Primary Adrenal Insufficiency

Articles related to Primary Adrenal Insufficiency:

(show top 50) (show all 600)
# Title Authors PMID Year
1
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis. 61
31917682 2020
2
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. 61
31435881 2020
3
Vomiting and Cardiac Arrest in a 10-Year-Old Girl. 61
32011558 2020
4
Increased Infection Risk in Addison's Disease and Congenital Adrenal Hyperplasia. 61
31532828 2020
5
Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency: Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK. 61
32017012 2020
6
Adrenal insufficiency: physiology, clinical presentation and diagnostic challenges. 61
32035851 2020
7
Beyond the adrenals - Organ manifestations in inherited primary adrenal insufficiency in children Commentary - Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis. 61
31972544 2020
8
A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient. 61
32000563 2020
9
Primary adrenal insufficiency: New genetic causes and their long-term consequences. 61
31610036 2020
10
Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency. 61
31613957 2020
11
GDF15 is elevated in conditions of glucocorticoid deficiency and is modulated by glucocorticoid replacement. 61
31853550 2019
12
Prehospital Management of Acute Addison Disease: Audit of Patients Attending a Referral Hospital in a Regional Area. 61
31723718 2019
13
Association of adrenal insufficiency with patient-oriented health-care outcomes in adult medical inpatients. 61
31581127 2019
14
A Challenging diagnosis that eventually results in a life-threatening condition: Addison's disease and adrenal crisis. 61
31888894 2019
15
Glucocorticoid Replacement Affects Serum Adiponectin Levels and HDL-C in Patients With Secondary Adrenal Insufficiency. 61
31290981 2019
16
Bilateral adrenal histoplasmosis manifesting as primary adrenal insufficiency. 61
31685665 2019
17
A Rare Presentation of Catatonia due to Primary Adrenal Insufficiency. 61
31000141 2019
18
Stress-Dosed Glucocorticoids and Mineralocorticoids Before Intensive Endurance Exercise in Primary Adrenal Insufficiency. 61
31688185 2019
19
Primary adrenal insufficiency in the United States: diagnostic error and patient satisfaction with treatment. 61
31256064 2019
20
CLINICAL COURSE OF A UNIQUE CASE OF ALLGROVE SYNDROME AND CHALLENGES OF HYPOGLYCEMIA MANAGEMENT. 61
31967070 2019
21
Acquired Asymptomatic Blue Tongue: A Report of Exogenous Agent-associated Tongue Dyschromia and Review of Blue Tongue Etiologies. 61
31890441 2019
22
Adrenal insufficiency due to recurrent renal cell carcinoma in the left adrenal gland 3 years after right radical nephrectomy for renal cell carcinoma. 61
31752580 2019
23
Concomitant presentation of IgG4-negative idiopathic retroperitoneal fibrosis and Addison's disease. 61
31611225 2019
24
Adrenal insufficiency, be aware of drug interactions! 61
31581123 2019
25
Quantitative targeted GC-MS-based urinary steroid metabolome analysis for treatment monitoring of adolescents and young adults with autoimmune primary adrenal insufficiency. 61
31228484 2019
26
Endocrine-Related Adverse Events Related to Immune Checkpoint Inhibitors: Proposed Algorithms for Management. 61
31601731 2019
27
POEMS syndrome: a rare cause of adrenal insufficiency in a young male. 61
31967972 2019
28
Residual endogenous corticosteroid production in patients with adrenal insufficiency. 61
31059146 2019
29
Morning cortisol as an alternative to Short Synecthan test for the diagnosis of primary adrenal insufficiency. 61
31489017 2019
30
Plasma renin levels are associated with cardiac function in primary adrenal insufficiency. 61
31177424 2019
31
Type II polyglandular autoimmune syndrome: a case of Addison's disease precipitated by use of levothyroxine. 61
31439557 2019
32
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy. 61
31397861 2019
33
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers. 61
31280422 2019
34
Early Onset Primary Adrenal Insufficiency in Males with Adrenoleukodystrophy: Case Series and Literature Review. 61
31101408 2019
35
Hyperkalemia in a patient with myasthenia gravis: case presentation. 61
31349821 2019
36
Management of immune-related adverse events in endocrine organs induced by immune checkpoint inhibitors: clinical guidelines of the Japan Endocrine Society. 61
31243183 2019
37
Gastric diffuse large B-cell lymphoma with bilateral adrenal metastasis. 61
31272994 2019
38
Identifying a disease-specific renin-angiotensin-aldosterone system fingerprint in patients with primary adrenal insufficiency. 61
31075757 2019
39
Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review. 61
31286101 2019
40
Normal male external genitalia do not rule out CYP11A1 deficiency. 61
31289154 2019
41
The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience. 61
31194685 2019
42
ADRENAL INSUFFICIENCY CAUSED BY PARACOCCIDIOIDOMYCOSIS: THREE CASE REPORTS AND REVIEW. 61
31967043 2019
43
Central adrenal insufficiency: open issues regarding diagnosis and glucocorticoid treatment. 61
30427776 2019
44
[The clinical reports on adrenal insufficiency of patients with advanced solid tumors accepting anti-PD-1 antibody, SHR-1210 therapy]. 61
31216835 2019
45
Adrenal insufficiency following nivolumab therapy in patients with recurrent or metastatic head and neck cancer. 61
31235078 2019
46
A Child with Ambiguous Genitalia: An Atypical Presentation. 61
31142423 2019
47
Etiology of primary adrenal insufficiency in children: a 29-year single-center experience. 61
31141483 2019
48
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report. 61
31164167 2019
49
[Clinical and mutational analysis of 7 children with X-linked adrenal dysplasia congenita]. 61
31055805 2019
50
Falsely elevated plasma ACTH levels measured by the Elecsys assay related to heterophilic antibody in a case of secondary adrenocortical insufficiency. 61
30944263 2019

Variations for Primary Adrenal Insufficiency

Expression for Primary Adrenal Insufficiency

Search GEO for disease gene expression data for Primary Adrenal Insufficiency.

Pathways for Primary Adrenal Insufficiency

Pathways related to Primary Adrenal Insufficiency according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
2
Show member pathways
12.63 HLA-DRB1 HLA-DQB1 HLA-DQA1
3
Show member pathways
12.58 HLA-DRB1 HLA-DQB1 HLA-DQA1
4
Show member pathways
12.55 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
5
Show member pathways
12.5 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
6 12.48 HLA-DRB1 HLA-DQB1 HLA-DQA1
7
Show member pathways
12.34 HLA-DRB1 HLA-DQB1 HLA-DQA1
8
Show member pathways
12.31 HLA-DRB1 HLA-DQB1 HLA-DQA1
9
Show member pathways
12.14 HLA-DRB1 HLA-DQB1 HLA-DQA1
10
Show member pathways
12.1 HLA-DRB1 HLA-DQB1 HLA-DQA1
11 12.08 HLA-DRB1 HLA-DQB1 HLA-DQA1
12
Show member pathways
12.05 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
13
Show member pathways
11.97 HLA-DRB1 HLA-DQB1 HLA-DQA1
14 11.91 HLA-DRB1 HLA-DQB1 HLA-DQA1
15 11.87 HLA-DRB1 HLA-DQB1 HLA-DQA1
16 11.69 HLA-DRB1 HLA-DQB1 HLA-DQA1
17
Show member pathways
11.69 HLA-DRB1 HLA-DQB1 HLA-DQA1
18 11.65 HLA-DRB1 HLA-DQB1 HLA-DQA1
19 11.6 HLA-DRB1 HLA-DQB1 HLA-DQA1
20 11.56 HLA-DRB1 HLA-DQB1 HLA-DQA1
21
Show member pathways
11.53 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
22 11.51 HLA-DRB1 HLA-DQB1 HLA-DQA1
23 11.35 HLA-DRB1 HLA-DQB1 HLA-DQA1
24
Show member pathways
11.29 HLA-DRB1 HLA-DQB1 HLA-DQA1
25 11.18 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA

GO Terms for Primary Adrenal Insufficiency

Cellular components related to Primary Adrenal Insufficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.65 HLA-DRB1 HLA-DQB1 HLA-DQA1
2 lysosomal membrane GO:0005765 9.63 HLA-DRB1 HLA-DQB1 HLA-DQA1
3 endosome membrane GO:0010008 9.61 HLA-DRB1 HLA-DQB1 HLA-DQA1
4 trans-Golgi network membrane GO:0032588 9.58 HLA-DRB1 HLA-DQB1 HLA-DQA1
5 endocytic vesicle membrane GO:0030666 9.54 HLA-DRB1 HLA-DQB1 HLA-DQA1
6 ER to Golgi transport vesicle membrane GO:0012507 9.5 HLA-DRB1 HLA-DQB1 HLA-DQA1
7 transport vesicle membrane GO:0030658 9.43 HLA-DRB1 HLA-DQB1 HLA-DQA1
8 clathrin-coated endocytic vesicle membrane GO:0030669 9.33 HLA-DRB1 HLA-DQB1 HLA-DQA1
9 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.13 HLA-DRB1 HLA-DQB1 HLA-DQA1
10 MHC class II protein complex GO:0042613 8.8 HLA-DRB1 HLA-DQB1 HLA-DQA1

Biological processes related to Primary Adrenal Insufficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.71 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
2 immune system process GO:0002376 9.63 HLA-DRB1 HLA-DQB1 HLA-DQA1
3 T cell receptor signaling pathway GO:0050852 9.61 HLA-DRB1 HLA-DQB1 HLA-DQA1
4 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.54 HLA-DRB1 HLA-DQB1 HLA-DQA1
5 antigen processing and presentation GO:0019882 9.33 HLA-DRB1 HLA-DQB1 HLA-DQA1
6 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.32 HLA-DRB1 HLA-DQB1
7 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.26 HLA-DRB1 HLA-DQB1
8 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.13 HLA-DRB1 HLA-DQB1 HLA-DQA1
9 interferon-gamma-mediated signaling pathway GO:0060333 8.92 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA

Molecular functions related to Primary Adrenal Insufficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 9.13 HLA-DRB1 HLA-DQB1 HLA-DQA1
2 MHC class II receptor activity GO:0032395 8.8 HLA-DRB1 HLA-DQB1 HLA-DQA1

Sources for Primary Adrenal Insufficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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