MCID: PRM340
MIFTS: 37

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 59 29

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Orphanet 59 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 Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include testes, pituitary and bone.

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 196)
# Related Disease Score Top Affiliating Genes
1 autoimmune addison disease 32.4 HLA-DRB1 CYP21A2
2 histoplasmosis 30.0 HLA-DRB1 HLA-DQA1
3 graves' disease 29.3 HLA-DRB1 HLA-DQA1
4 graft-versus-host disease 29.2 HLA-DRB1 HLA-DQB1
5 celiac disease 1 28.9 HLA-DQB1 HLA-DQA1
6 diabetes mellitus, insulin-dependent 28.6 HLA-DRB1 HLA-DQB1 HLA-DQA1
7 systemic lupus erythematosus 28.0 HLA-DRB1 HLA-DQB1 HLA-DQA1
8 chronic primary adrenal insufficiency 12.6
9 genetic chronic primary adrenal insufficiency 12.4
10 acquired chronic primary adrenal insufficiency 12.4
11 hypoadrenocorticism, familial 12.2
12 nephrotic syndrome, type 14 12.2
13 familial glucocorticoid deficiency 11.8
14 acute adrenal insufficiency 11.6
15 achalasia-addisonianism-alacrima syndrome 11.6
16 adrenomyodystrophy 11.3
17 childhood-onset cerebral x-linked adrenoleukodystrophy 11.3
18 hypoaldosteronism 11.3
19 lipoid congenital adrenal hyperplasia 10.4
20 dowling-degos disease 1 10.3
21 adrenomyeloneuropathy 10.3
22 adrenoleukodystrophy 10.3
23 hypoglycemia 10.3
24 autoimmune disease 10.3
25 hypogonadism 10.2
26 antiphospholipid syndrome 10.2
27 hypogonadotropism 10.2
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
29 autoimmune polyendocrine syndrome 10.2
30 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.1
31 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.1
32 lymphoma 10.1
33 hypothyroidism 10.1
34 nr0b1-related adrenal hypoplasia congenita 10.1
35 polyendocrinopathy 10.1
36 hirata disease 10.0 HLA-DRB1 HLA-DQA1
37 immune deficiency disease 10.0
38 adrenal hypoplasia, congenital 10.0
39 metabolic acidosis 10.0
40 hypogonadotropic hypogonadism 10.0
41 nephrotic syndrome 10.0
42 acquired immunodeficiency syndrome 10.0
43 thyroiditis 10.0
44 secondary adrenal insufficiency 10.0
45 eosinophilia-myalgia syndrome 10.0 HLA-DRB1 HLA-DQA1
46 sympathetic ophthalmia 10.0 HLA-DRB1 HLA-DQA1
47 thrombophilia due to thrombin defect 10.0
48 cryptorchidism, unilateral or bilateral 10.0
49 premature ovarian failure 7 10.0
50 46,xy sex reversal 3 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

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Prednisolone For the treatment of primary or secondary adrenocortical insufficiency, such as congenital adrenal hyperplasia, thyroiditis. Also used to treat psoriatic arthritis, rheumatoid arthritis, ankylosing spondylitis, bursitis, acute gouty arthritis and epicondylitis. Also indicated for treatment of systemic lupus erythematosus, pemphigus and acute rhematic carditis. Can be used in the treatment of leukemias, lymphomas, thrombocytopenia purpura and autoimmune hemolytic anemia. Can be used to treat celiac disease, insulin resistance, ulcerative colitis and liver disorders. DB00860

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

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

Interventional clinical trials:

(show all 11)
# 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 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 72 / NDF-RT 51 :


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

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:

41
Testes, Pituitary, Bone, Adrenal Gland, Lung, Thyroid, Brain

Publications for Primary Adrenal Insufficiency

Articles related to Primary Adrenal Insufficiency:

(show top 50) (show all 574)
# Title Authors PMID Year
1
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy. 38
31397861 2019
2
A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. 38
31435881 2019
3
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers. 38
31280422 2019
4
Early Onset Primary Adrenal Insufficiency in Males with Adrenoleukodystrophy: Case Series and Literature Review. 38
31101408 2019
5
Plasma renin levels are associated with cardiac function in primary adrenal insufficiency. 38
31177424 2019
6
Central adrenal insufficiency: open issues regarding diagnosis and glucocorticoid treatment. 38
30427776 2019
7
Glucocorticoid replacement affects serum adiponectin levels and HDL-C in patients with secondary adrenal insufficiency. 38
31290981 2019
8
Hyperkalemia in a patient with myasthenia gravis: case presentation. 38
31349821 2019
9
Management of immune-related adverse events in endocrine organs induced by immune checkpoint inhibitors: clinical guidelines of the Japan Endocrine Society. 38
31243183 2019
10
Gastric diffuse large B-cell lymphoma with bilateral adrenal metastasis. 38
31272994 2019
11
Normal male external genitalia do not rule out CYP11A1 deficiency. 38
31289154 2019
12
The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience. 38
31194685 2019
13
Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review. 38
31286101 2019
14
Identifying a disease-specific renin-angiotensin-aldosterone system fingerprint in patients with primary adrenal insufficiency. 38
31075757 2019
15
Etiology of primary adrenal insufficiency in children: a 29-year single-center experience. 38
31141483 2019
16
A Child with Ambiguous Genitalia: An Atypical Presentation. 38
31142423 2019
17
Falsely elevated plasma ACTH levels measured by the Elecsys assay related to heterophilic antibody in a case of secondary adrenocortical insufficiency. 38
30944263 2019
18
[Clinical and mutational analysis of 7 children with X-linked adrenal dysplasia congenita]. 38
31055805 2019
19
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report. 38
31164167 2019
20
[The clinical reports on adrenal insufficiency of patients with advanced solid tumors accepting anti-PD-1 antibody, SHR-1210 therapy]. 38
31216835 2019
21
Primary adrenal insufficiency in the United States: diagnostic error and patient satisfaction with treatment. 38
31256064 2019
22
Quantitative targeted GC-MS-based urinary steroid metabolome analysis for treatment monitoring of adolescents and young adults with autoimmune primary adrenal insufficiency. 38
31228484 2019
23
Adrenal insufficiency following nivolumab therapy in patients with recurrent or metastatic head and neck cancer. 38
31235078 2019
24
[Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines]. 38
30981462 2019
25
Tuberculosis as a differential for bilateral adrenal masses in the UK. 38
31142485 2019
26
Residual endogenous corticosteroid production in patients with adrenal insufficiency. 38
31059146 2019
27
Treatment of gynecomastia with prednisone: case report and literature review. 38
30958070 2019
28
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. 38
30517686 2019
29
Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia. 38
30476142 2019
30
A rare case of autoimmune polyglandular syndrome with Sjögren's syndrome and primary hypoparathyroidism. 38
31133546 2019
31
Neuropsychiatric Manifestation of Addison's Disease: A Rare Case Report. 38
31192061 2019
32
Clinical outcomes and cortical reserve in adrenal histoplasmosis-A retrospective follow-up study of 40 patients. 38
30656706 2019
33
A Systematic Review and Meta-Analysis of Endocrine-Related Adverse Events Associated with Immune Checkpoint Inhibitors. 38
30861560 2019
34
Primary Adrenal Insufficiency During Lenvatinib or Vandetanib and Improvement of Fatigue After Cortisone Acetate Therapy. 38
30383218 2019
35
A Rare Presentation of Catatonia due to Primary Adrenal Insufficiency. 38
31000141 2019
36
Hyponatraemia and hyperpigmentation in primary adrenal insufficiency. 38
30850564 2019
37
Tuberculous Addison's disease with increased hydrocortisone requirements due to administration of rifampicin. 38
30872343 2019
38
A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy. 38
31184821 2019
39
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance. 38
30658899 2019
40
SIADH versus adrenal insufficiency: a life-threatening misdiagnosis. 38
30728045 2019
41
Endocrine complications of celiac disease: a case report and review of the literature. 38
30198791 2019
42
Primary adrenal insufficiency and hemochromatosis - Cause and effect relationship or a coincidence? 38
30340758 2019
43
Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency. 38
30299480 2019
44
Case of autoimmune polyglandular syndrome type 2: how we uncovered the diagnosis. 38
30814097 2019
45
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants 38
30111524 2019
46
Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency. 38
30740912 2019
47
Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia. 38
30739087 2019
48
An Update on Addison's Disease. 38
30562824 2019
49
Endocrine Toxicity of Cancer Immunotherapy Targeting Immune Checkpoints. 38
30184160 2019
50
Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism. 38
30274713 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 24)
# 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
12.56 HLA-DRB1 HLA-DQB1 HLA-DQA1
4
Show member pathways
12.52 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
5
Show member pathways
12.34 HLA-DRB1 HLA-DQB1 HLA-DQA1
6
Show member pathways
12.31 HLA-DRB1 HLA-DQB1 HLA-DQA1
7
Show member pathways
12.13 HLA-DRB1 HLA-DQB1 HLA-DQA1
8 12.1 HLA-DRB1 HLA-DQB1 HLA-DQA1
9
Show member pathways
12.09 HLA-DRB1 HLA-DQB1 HLA-DQA1
10
Show member pathways
12.05 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
11
Show member pathways
11.95 HLA-DRB1 HLA-DQB1 HLA-DQA1
12 11.88 HLA-DRB1 HLA-DQB1 HLA-DQA1
13 11.84 HLA-DRB1 HLA-DQB1 HLA-DQA1
14
Show member pathways
11.69 HLA-DRB1 HLA-DQB1 HLA-DQA1
15 11.67 HLA-DRB1 HLA-DQB1 HLA-DQA1
16
Show member pathways
11.67 HLA-DRB1 HLA-DQB1 HLA-DQA1
17 11.62 HLA-DRB1 HLA-DQB1 HLA-DQA1
18 11.57 HLA-DRB1 HLA-DQB1 HLA-DQA1
19
Show member pathways
11.53 HLA-DRB1 HLA-DQB1 HLA-DQA1 CIITA
20 11.51 HLA-DRB1 HLA-DQB1 HLA-DQA1
21 11.35 HLA-DRB1 HLA-DQB1 HLA-DQA1
22 11.33 HLA-DRB1 HLA-DQB1 HLA-DQA1
23 11.31 HLA-DRB1 HLA-DQB1 HLA-DQA1
24 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 T cell receptor signaling pathway GO:0050852 9.61 HLA-DRB1 HLA-DQB1 HLA-DQA1
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.54 HLA-DRB1 HLA-DQB1 HLA-DQA1
4 antigen processing and presentation GO:0019882 9.33 HLA-DRB1 HLA-DQB1 HLA-DQA1
5 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.32 HLA-DRB1 HLA-DQB1
6 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.26 HLA-DRB1 HLA-DQB1
7 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.13 HLA-DRB1 HLA-DQB1 HLA-DQA1
8 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....