MCID: HYP780
MIFTS: 63

Hypoadrenocorticism, Familial

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypoadrenocorticism, Familial

MalaCards integrated aliases for Hypoadrenocorticism, Familial:

Name: Hypoadrenocorticism, Familial 56 12
Addison Disease 56 12 52 58 36 42 43 71
Addison's Disease 12 74 52 29 6 15
Adrenal Hypoplasia 56 74 52 29
Primary Adrenocortical Insufficiency 12 32
Adrenal Gland Hypofunction 52 71
Adrenal Aplasia 56 52
Addison Disease, Chronic Adrenal Insufficiency 12
Autoimmune Primary Adrenal Insufficiency 71
Addison's Disease Due to Autoimmunity 71
Addison Disease, Susceptibility to 6
Hypoadrenocorticism Familial 52
Autoimmune Addison Disease 58
Classic Addison Disease 58
Primary Addison Disease 58
Primary Hypoadrenalism 12
Autoimmune Adrenalitis 58
Addisons Disease 54

Characteristics:

Orphanet epidemiological data:

58
addison disease
Prevalence: 1-5/10000,1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypoadrenocorticism, familial:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Hypoadrenocorticism, Familial

NIH Rare Diseases : 52 Addison's disease is a chronic disease that occurs when the adrenal glands do not produce enough (or any) of the hormones cortisol and aldosterone . Symptoms can vary from person to person but usually develop slowly over time, and are often non-specific at first. However, sometimes symptoms occur suddenly and cause a life-threatening condition called acute adrenal failure, also known as an acute adrenal crisis or Addisonian crisis. Common symptoms of Addison's disease include fatigue, loss of appetite, and abdominal pain and nausea. Some people also experience mood or behavior changes. Other signs and symptoms of Addison's disease that may develop include dark patches of skin (hyperpigmentation), vitiligo , muscle weakness or pain, dehydration, and low blood pressure. An acute adrenal crisis is a medical emergency which can lead to shock or kidney failure if not treated promptly. A crisis may cause sudden weakness, severe pain (in the back, abdomen, or legs), vomiting and diarrhea, and low blood pressure which can lead to fainting. A crisis may be triggered when a person with Addison's disease is under stress, such as during an accident, surgery, or severe illness. In most cases, Addison's disease is caused by damage to the adrenal cortex (the outer part of the adrenal gland) due to an autoimmune reaction. In these cases, a person may not develop symptoms for months or years. This may be referred to as autoimmune Addison's disease, or primary adrenal insufficiency. If the adrenal glands do not produce hormones despite being undamaged (such as due to ACTH deficiency ), it is referred to as secondary adrenal insufficiency. Less common causes of Addison's disease include repeated infections, cancer that spreads to the adrenal glands, CMV associated with HIV/AIDS, and amyloidosis . Tuberculosis remains a major cause in developing countries, but is no longer a major cause in the United States. Rarely, Addison's disease runs in families and may be due to a genetic predisposition . Addison's disease may be diagnosed based on symptoms, blood and urine tests that evaluate adrenal function, chest X-rays , and/or a CT scan to look at the size and characteristics of the adrenal glands. Treatment ideally should be managed by an endocrinologist who specializes in adrenal diseases . Daily treatment typically includes medicines (tablets) that replace the hormones cortisol and aldosterone. Treatment for an adrenal crisis may include intravenous hydrocortisone, fluids, and electrolytes, as well as drugs that normalize blood pressure. People with Addison's disease should carry a medical ID that states the disease and emergency instructions. An example is provided by the National Adrenal Diseases Foundation . With proper treatment and avoidance of dehydration, people with Addison's disease can avoid having crises and have a normal life expectancy.

MalaCards based summary : Hypoadrenocorticism, Familial, also known as addison disease, is related to autoimmune addison disease and intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. An important gene associated with Hypoadrenocorticism, Familial is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Circadian rythm related genes. The drugs Prednisone and Cosyntropin have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and testes, and related phenotypes are decreased circulating cortisol level and muscle weakness

Disease Ontology : 12 An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.

MedlinePlus : 42 Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer. Symptoms include Weight loss Muscle weakness Fatigue that gets worse over time Low blood pressure Patchy or dark skin Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

KEGG : 36 Primary adrenocortical insufficiency, also known as Addison disease, is a rare but fatal endocrine disorder characterized by the progressive destruction of the adorenal cortex, resulting in insufficient production of glucocorticoids, mineralocorticoids, and adrenal androgens. Although tuberculosis remains a significant cause in developing countries, autoimmune adrenalitis is the most common cause of Addison disease in developed nations. It has also been reported that DAX1 mutations result in X-linked adrenal hypoplasia congenita (X-linked Addison disease). The clinical manifestations before a life-threatening adrenal crisis (shock, hypotension, and volume depletion) are subtle and can include hyperpigmentation, fatigue, anorexia, orthostasis, nausea, muscle and joint pain, and salt craving. Symptoms are gradual and worsen over a period of years, making early diagnosis difficult. Treatment for Addison disease consists of lifelong hormone therapy with glucocorticoids and mineralocorticoids.

Wikipedia : 74 Addison's disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term... more...

More information from OMIM: 240200

Related Diseases for Hypoadrenocorticism, Familial

Diseases related to Hypoadrenocorticism, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 593)
# Related Disease Score Top Affiliating Genes
1 autoimmune addison disease 34.9 CYP21A2 CTLA4 AIRE
2 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 34.2 NR5A1 NR0B1 MC2R GK CYP11A1
3 nr0b1-related adrenal hypoplasia congenita 34.0 NR0B1 IL1RAPL1 GK
4 adrenal hypoplasia, congenital 33.9 STAR POMC NR5A1 NR0B1 MC2R IL1RAPL1
5 autoimmune polyendocrine syndrome, type ii 33.5 TPO PTPN22 AIRE
6 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.9 TPH1 DDC CYP21A2 CYP17A1 CYP11A1 AIRE
7 achalasia-addisonianism-alacrima syndrome 32.7 STAR POMC NR0B1 MC2R
8 chromosome xp21 deletion syndrome 32.6 NR0B1 IL1RAPL1 GK
9 glycerol kinase deficiency 32.5 NR5A1 NR0B1 IL1RAPL1 GK
10 vitiligo-associated multiple autoimmune disease susceptibility 1 31.8 TPO PTPN22 POMC DDC CTLA4 AIRE
11 primary adrenal insufficiency 31.7 NR0B1 CYP21A2
12 premature ovarian failure 1 31.3 TPO STAR POMC NR5A1 NR0B1 CYP17A1
13 hyperthyroidism 30.9 TPO TG POMC CTLA4
14 pernicious anemia 30.9 TPO TG PTPN22 AIRE
15 graves' disease 30.8 TPO TG PTPN22 CTLA4 AIRE
16 hypoaldosteronism 30.7 REN POMC
17 autoimmune disease 30.6 TPO TG PTPN22 CTLA4 AIRE
18 autoimmune hepatitis 30.5 TPO DDC CTLA4 AIRE
19 thyroid crisis 30.5 TPO TG
20 acute adrenal insufficiency 30.4 REN POMC CYP21A2 CYP11A1
21 46,xy sex reversal 2 30.4 STAR NR5A1 NR0B1 MC2R CYP21A2 CYP17A1
22 metaphyseal dysplasia 30.4 NR0B1 GK AIRE
23 adrenal gland disease 30.4 STAR REN POMC NR5A1 NR0B1 MC2R
24 polyendocrinopathy 30.4 CYP17A1 CYP11A1 AIRE
25 autoimmune polyendocrine syndrome type 1 30.3 TPH1 DDC CYP21A2 AIRE
26 thymoma 30.3 TG PTPN22 CTLA4 AIRE
27 celiac disease 1 30.3 TPO TG PTPN22 CYP21A2 CTLA4 AIRE
28 graves disease 1 30.3 TPO TG POMC
29 hypoparathyroidism 30.3 TPO PTPN22 CTLA4 AIRE
30 hypospadias 30.2 NR5A1 CYP17A1 CYP11A1
31 inappropriate adh syndrome 30.2 REN POMC CRH
32 myxedema 30.2 TPO TG POMC CTLA4
33 cryptorchidism, unilateral or bilateral 30.1 STAR POMC NR5A1 NR0B1 CYP17A1 CYP11A1
34 pituitary-dependent cushing's disease 30.1 POMC CRH
35 autoimmune polyendocrine syndrome 30.1 TPO TPH1 TG DDC CYP21A2 CYP11A1
36 thyroiditis 30.1 TPO TG PTPN22 CTLA4
37 hypothalamic disease 30.1 POMC CRH
38 myasthenia gravis 30.1 PTPN22 CTLA4 AIRE
39 glucocorticoid deficiency 1 30.0 POMC MC2R
40 pseudohermaphroditism 30.0 STAR POMC NR5A1 NR0B1 CYP21A2 CYP17A1
41 hyperandrogenism 30.0 POMC CYP21A2 CYP17A1 CYP11A1
42 hashimoto thyroiditis 29.9 TPO TG PTPN22 CTLA4 AIRE
43 endogenous depression 29.9 TPH1 POMC CRH
44 adrenocortical carcinoma, hereditary 29.9 STAR MC2R CYP17A1 CYP11A1
45 thyroid gland disease 29.9 TPO TG POMC CTLA4
46 ovarian disease 29.9 STAR REN POMC CYP17A1 CYP11A1
47 amenorrhea 29.8 POMC NR5A1 CYP17A1 CRH
48 gangliocytoma 29.8 POMC CRH
49 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.8 TPO TG PTPN22 CTLA4 AIRE
50 turner syndrome 29.8 TPO TG POMC NR0B1 CYP21A2

Graphical network of the top 20 diseases related to Hypoadrenocorticism, Familial:



Diseases related to Hypoadrenocorticism, Familial

Symptoms & Phenotypes for Hypoadrenocorticism, Familial

Human phenotypes related to Hypoadrenocorticism, Familial:

31 58 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased circulating cortisol level 31 obligate (100%) HP:0008163
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
5 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
6 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
7 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
8 anorexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002039
9 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
10 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
11 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
12 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
13 hyperuricemia 58 31 frequent (33%) Frequent (79-30%) HP:0002149
14 hyponatremia 58 31 frequent (33%) Frequent (79-30%) HP:0002902
15 hyperkalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002153
16 decreased circulating aldosterone level 58 31 frequent (33%) Frequent (79-30%) HP:0004319
17 normocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001897
18 renal salt wasting 58 31 frequent (33%) Frequent (79-30%) HP:0000127
19 increased circulating renin level 58 31 frequent (33%) Frequent (79-30%) HP:0000848
20 androgen insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0008226
21 decreased urinary potassium 58 31 frequent (33%) Frequent (79-30%) HP:0012364
22 hyperkalemic metabolic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0005976
23 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
24 type i diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100651
25 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
26 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
27 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
28 premature ovarian insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008209
29 hashimoto thyroiditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000872
30 vitiligo 58 31 occasional (7.5%) Occasional (29-5%) HP:0001045
31 celiac disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0002608
32 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
33 hypoparathyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000829
34 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003072
35 orthostatic hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001278
36 sparse axillary hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002215
37 adrenal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000835
38 adrenal calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0010512
39 decreased female libido 58 31 occasional (7.5%) Occasional (29-5%) HP:0030018
40 salt craving 58 31 occasional (7.5%) Occasional (29-5%) HP:0030083
41 generalized bone demineralization 58 31 occasional (7.5%) Occasional (29-5%) HP:0006462
42 seizure 31 occasional (7.5%) HP:0001250
43 thymoma 58 31 very rare (1%) Very rare (<4-1%) HP:0100522
44 thiamine-responsive megaloblastic anemia 58 31 very rare (1%) Very rare (<4-1%) HP:0004860
45 primary testicular failure 58 31 very rare (1%) Very rare (<4-1%) HP:0008720
46 seizures 58 Occasional (29-5%)
47 feeding difficulties in infancy 31 HP:0008872
48 vomiting 31 HP:0002013
49 abnormality of the cardiovascular system 31 HP:0001626
50 abnormality of skin pigmentation 31 HP:0001000

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures

Laboratory Abnormalities:
hypoglycemia
hyponatremia
hyperkalemia

Skin Nails Hair Skin:
neonatal cyanosis
pigmentation

Respiratory:
neonatal episodic apnea

Abdomen Gastrointestinal:
vomiting
feeding difficulties

Endocrine Features:
adrenal hypoplasia
adrenal insufficiency
adrenal aplasia

Cardiovascular Vascular:
vascular collapse

Clinical features from OMIM:

240200

GenomeRNAi Phenotypes related to Hypoadrenocorticism, Familial according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.6 DDC TG
2 Decreased viability GR00249-S 9.6 CYP17A1 DDC IL1RAPL1 MC2R NR0B1 STAR
3 Decreased viability GR00381-A-1 9.6 STAR
4 Decreased viability GR00386-A-1 9.6 DDC IL1RAPL1 NR5A1 POMC STAR
5 Decreased viability GR00402-S-2 9.6 ABCD1 MC2R NR5A1 STAR

MGI Mouse Phenotypes related to Hypoadrenocorticism, Familial:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 ABCD1 AIRE CRH CYP11A1 CYP17A1 CYP21A2
2 endocrine/exocrine gland MP:0005379 10.28 ABCD1 AIRE CRH CTLA4 CYP11A1 MC2R
3 growth/size/body region MP:0005378 10.25 AIRE CRH CYP11A1 CYP17A1 DDC MC2R
4 homeostasis/metabolism MP:0005376 10.25 ABCD1 AIRE CRH CTLA4 CYP11A1 CYP17A1
5 hematopoietic system MP:0005397 10.18 ABCD1 AIRE CRH CTLA4 CYP11A1 CYP21A2
6 cardiovascular system MP:0005385 10.16 CTLA4 CYP11A1 CYP17A1 DDC MC2R NR5A1
7 immune system MP:0005387 10.1 ABCD1 AIRE CRH CTLA4 CYP11A1 CYP21A2
8 mortality/aging MP:0010768 10 ABCD1 AIRE CTLA4 CYP11A1 CYP17A1 CYP21A2
9 nervous system MP:0003631 9.7 ABCD1 AIRE CRH CYP11A1 DDC IL1RAPL1
10 reproductive system MP:0005389 9.36 ABCD1 AIRE CYP11A1 CYP17A1 DDC GK

Drugs & Therapeutics for Hypoadrenocorticism, Familial

Drugs for Hypoadrenocorticism, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Cosyntropin Approved Phase 4 16960-16-0 16129617
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
rituximab Approved Phase 4 174722-31-7 10201696
7 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
10
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
11
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
12
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
13
Cortisone Experimental Phase 4 53-06-5 222786
14
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
15 Immunologic Factors Phase 4
16 Hydrocortisone-17-butyrate Phase 4
17 Methylprednisolone Acetate Phase 4
18 Antirheumatic Agents Phase 4
19 Antineoplastic Agents, Immunological Phase 4
20 Hydrocortisone 17-butyrate 21-propionate Phase 4
21 Hydrocortisone hemisuccinate Phase 4
22 Hormones Phase 4
23 glucocorticoids Phase 4
24 Antineoplastic Agents, Hormonal Phase 4
25 Hormone Antagonists Phase 4
26 Anti-Inflammatory Agents Phase 4
27 Antiemetics Phase 4
28 Gastrointestinal Agents Phase 4
29
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 3 53-43-0 9860744
30 Adjuvants, Immunologic Phase 3
31 DHEA (Dehydroepiandrosterone) Phase 3
32 Insulin, Globin Zinc Phase 2, Phase 3
33 insulin Phase 2, Phase 3
34
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
35
Racepinephrine Approved Phase 2 329-65-7 838
36
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
37
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
38
Polyestradiol phosphate Approved Phase 2 28014-46-2
39 Mineralocorticoids Phase 2
40 Epinephryl borate Phase 2
41 Analgesics, Non-Narcotic Phase 2
42 Anti-Inflammatory Agents, Non-Steroidal Phase 2
43 Estradiol 17 beta-cypionate Phase 2
44 Estradiol 3-benzoate Phase 2
45 Antipsychotic Agents Phase 2
46 Estrogens Phase 2
47
glycyrrhizin Approved, Experimental 1405-86-3 3495
48
Licorice Approved
49
Acetaminophen Approved 103-90-2 1983
50
Hydromorphone Approved, Illicit 466-99-9 5284570

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Dexamethasone-suppression-test Predicts Later Development of Adrenal Insufficiency After a 14 Days' Course of Prednisone in Healthy Volunteers Completed NCT00975078 Phase 4 prednisone
2 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
3 Revival of Autochthonous Adrenocortical Stem Cells in Autoimmune Addison's Disease Completed NCT01371526 Phase 4 depot tetracosactide
4 Immunotherapeutic Rescue of Steroidogenic Function in Autoimmune Adrenocortical Failure: Pilot Study Completed NCT00753597 Phase 4 Solu-medrone, Mabthera
5 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
6 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3 dehydroepiandrosterone
7 Glucocorticoid Treatment in Addison's Disease Completed NCT01063569 Phase 2, Phase 3 Solu-Cortef (hydrocortisone);Cortef (hydrocortisone)
8 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
9 Paradigm Real Time Continuous Glucose Monitoring Device for the Prevention of Hypoglycemia Completed NCT00554281 Phase 3
10 A Randomised, Double-blind, Placebo-controlled, Parallel-group, 52-week Study to Evaluate the Efficacy and Safety of Oral DHEA Therapy for Postmenopausal Women on Sexual Function, Wellbeing and Vasomotor Symptoms Completed NCT00289926 Phase 3 dehydroepiandrosterone;placebo
11 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
12 Effect of Cortisol on Physical Exertion in Patients With Primary Adrenal Unknown status NCT01847690 Phase 2 Hydrocortisone
13 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Unknown status NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
14 Probiotics and the Microbiome: Clinical Intervention Trial for Anxiety and Depression Unknown status NCT02035878 Phase 2 Placebo
15 Pharmacokinetics of Hydrocortisone After Subcutaneous Administration Compared With Intramuscular Injection in Chronic Adrenal Insufficiency Completed NCT01450930 Phase 2 Hydrocortisone intramuscular first;Hydrocortisone subcutaneously first
16 Continuous Subcutaneous Hydrocortisone Infusion In Addison`s Disease and Type 1 Diabetes Completed NCT01840189 Phase 2
17 A Split Body Study of the Effects of Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Completed NCT03123016 Phase 2 Apremilast
18 Double Blind Study of Estradiol Plus Neuroleptic Versus Placebo Plus Neuroleptic in the Treatment of Psychotic Symptoms in Women With Schizophrenia Completed NCT00206570 Phase 2 Estradiol
19 Vaginal Prednisone Administration for Prevention of Adrenal Crisis - a Bioequivalence Study Completed NCT02689960 Phase 2 100mg prednisone suppository
20 Effect of Hydrocortisone Stress Dose on Exercise Capacity and Post-exercise Recovery in Patients With Addison's Disease Unknown status NCT01657123
21 Risk Factors of Incidence of Hypothyroidism in Patients With Type 1 Diabetes Unknown status NCT03257566
22 Protein/Metabolite Biomarker(s) for Glucocorticoid Action; an Experimental Trial in Patients With Adrenal Insufficiency Completed NCT02152553 Hydrocortisone;Placebo
23 Use of Liquorice and Grapefruit in Patients With Addison's Disease Completed NCT01271296
24 Counterregulatory Hormone Production and Cognitive Function in Patients With Adrenal Insufficiency and Diabetes Mellitus Type I Completed NCT01452893
25 Survey in Patients With Chronic Adrenal Insufficiency in Germany Completed NCT00444119
26 Cortisol, Central Obesity, and Insulin Resistance: Long Term Studies in Addison's Patients Completed NCT00688987 Hydrocortisone
27 Dose Response Relationship for Single Doses of Corticotropin Releasing Hormone (CRH) in Normal Volunteers and in Patients With Adrenal Insufficiency Completed NCT00001180 Ovine Corticotropin-Releasing Hormone (oCRH)
28 Prospective Evaluation of Adrenal Function After Living Donor Nephrectomy With or Without Ligation of the Adrenal Vein Completed NCT00251836
29 Repeated Nasal Challenge in Skin Prick-puncture Negative and Intradermal Positive Dust Mite Allergic Rhinitis Patients. Completed NCT01179282
30 Residual Secretion of Adrenal Steroid Hormones in Addison's Disease Recruiting NCT03793114
31 Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Recruiting NCT03941184
32 Clinical Characteristics of Allergy, Autoimmune and Rheumatic Diseases: A Ten Year Retrospective Study Recruiting NCT01611636
33 Clinical Trial With Random Assignment to Evaluate the Efficacy and Safety of Radial Waves for the Treatment of Erectile Dysfunction Recruiting NCT03596047
34 Clinical Study on Circadian Genes Dysregulation in Patients With Glucocorticoid Disorders Recruiting NCT04374721
35 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
36 Growing up With the Young Endocrine Support System (YESS!): Innovative E-technology to Improve Transition From Paediatric to Adult Care Not yet recruiting NCT04252001
37 A Blinded, Randomized Controlled Trial of Opioid Analgesics for the Management of Acute Fracture Pain in Adults Discharged From the Emergency Department Terminated NCT03478423 Codeine;Oxycodone;Hydromorphone
38 Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development Withdrawn NCT00485186

Search NIH Clinical Center for Hypoadrenocorticism, Familial

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


Cortisone
cortisone acetate
Dexamethasone
dexamethasone acetate
DEXAMETHASONE ACETATE PWDR
Dexamethasone phosphate
Dexamethasone sodium phosphate
DEXAMETHASONE SODIUM PHOSPHATE PWDR
Fludrocortisone
fluorocortisol acetate
Hydrocortisone
hydrocortisone acetate
HYDROCORTISONE ACETATE PWDR
HYDROCORTISONE ACETONIDE
Hydrocortisone butyrate
hydrocortisone cypionate
hydrocortisone probutate
HYDROCORTISONE PWDR
Hydrocortisone sodium phosphate
Hydrocortisone sodium succinate
hydrocortisone valerate
HYDROCORTISONE,NONSTERILE PWDR
prasterone
prednisolone
prednisolone acetate
PREDNISOLONE ACETATE PWDR
PREDNISOLONE PWDR
Prednisolone sodium phosphate
prednisolone tebutate
Prednisone
PREDNISONE PWDR
Triamcinolone
Triamcinolone Acetonide
TRIAMCINOLONE ACETONIDE PWDR
triamcinolone diacetate
triamcinolone hexacetonide

Cochrane evidence based reviews: addison disease

Genetic Tests for Hypoadrenocorticism, Familial

Genetic tests related to Hypoadrenocorticism, Familial:

# Genetic test Affiliating Genes
1 Addison's Disease 29
2 Adrenal Hypoplasia 29

Anatomical Context for Hypoadrenocorticism, Familial

MalaCards organs/tissues related to Hypoadrenocorticism, Familial:

40
Adrenal Gland, Skin, Testes, Cortex, Kidney, Adrenal Cortex, Thyroid

Publications for Hypoadrenocorticism, Familial

Articles related to Hypoadrenocorticism, Familial:

(show top 50) (show all 503)
# Title Authors PMID Year
1
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. 56 6 54
18301444 2008
2
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. 61 54 6
16273109 2005
3
Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease. 54 56
10523017 1999
4
The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. 6
21841778 2011
5
Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis. 6
19898480 2009
6
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 6
19430480 2009
7
Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. 6
19265110 2009
8
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 6
18978792 2008
9
Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. 6
17878369 2007
10
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 6
17554300 2007
11
Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. 6
17436241 2007
12
Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. 6
17170052 2007
13
Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. 6
16339849 2006
14
Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. 6
16470599 2006
15
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. 6
15719322 2005
16
Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. 6
15744042 2005
17
The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. 6
15580548 2005
18
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. 6
15273934 2004
19
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. 6
15208781 2004
20
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. 6
15004560 2004
21
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. 6
8040304 1994
22
Familial congenital adrenal hypoplasia. 56
5702233 1968
23
Adrenal Cortical Hypoplasia in Siblings. 56
21032374 1960
24
Addison's disease in two brothers. 56
13654502 1959
25
Congenital adrenal hypoplasia in siblings. 56
13632060 1959
26
Familial occurrence of Addison's disease. 56
13381433 1956
27
Addison's disease: familial incidence and occurence in association with pernicious anemia. 56
13007404 1952
28
MANAGEMENT OF ENDOCRINE DISEASE Disease burden and treatment challenges in patients with both Addison's disease and type 1 diabetes mellitus. 42
32299062 2020
29
Increased risk of endocrine autoimmunity in first-degree relatives of patients with autoimmune Addison's disease. 42
32487775 2020
30
An analysis of early morning acth levels in the first case of pembrolizumab-induced adrenalitis as a delayed immune-related event (dire) - case study. 42
32248182 2020
31
Plasma alpha-melanocyte-stimulating hormone: sex differences and correlations with obesity. 61 54
19059526 2009
32
Disorders of adrenal development. 54 61
18493131 2008
33
Autoantibodies against CYP2D6 and other drug-metabolizing enzymes in autoimmune hepatitis type 2. 54 61
15747502 2005
34
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry. 61 54
11337910 2001
35
Target proteins in human autoimmunity: cytochromes P450 and UDP- glucuronosyltransferases. 54 61
10851284 2000
36
Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure. 54 61
8626850 1996
37
Clinical and analytical evaluation of an immunoradiometric assay for corticotropin. 61 54
7600682 1995
38
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. 61 54
7717396 1995
39
Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases. 54 61
7882511 1995
40
Natural History of Adrenal Steroidogenesis in Autoimmune Addison's Disease Following Diagnosis and Treatment. 61
32300791 2020
41
Residual Corticosteroid Production in Autoimmune Addison Disease. 61
32392298 2020
42
Primary antiphospholipid syndrome, Addison disease, and adrenal incidentaloma. 61
32146613 2020
43
Treatment of Catatonic Symptoms in a Patient With Autism Spectrum Disorder and Addison Disease: A Case Report. 61
32108665 2020
44
Risk of incident autoimmune diseases in patients with thymectomy. 61
32478484 2020
45
Every Fifth Individual With Type 1 Diabetes Suffers From an Additional Autoimmune Disease: A Finnish Nationwide Study. 61
32139386 2020
46
Current management and outcome of pregnancies in women with adrenal insufficiency: experience from a multi-center survey. 61
32424397 2020
47
Case report of a familial triple: a syndrome and review of the literature. 61
32481456 2020
48
Hyperkalemia and Acute Kidney Injury in an Adolescent: Thinking Outside the Box. 61
29200139 2020
49
Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran. 61
31588815 2020
50
Elevated Intracranial Pressure Associated With Exogenous Hormonal Therapy Used for Gender Affirmation. 61
32235230 2020

Variations for Hypoadrenocorticism, Familial

ClinVar genetic disease variations for Hypoadrenocorticism, Familial:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCD1 NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)SNV Pathogenic 11310 rs128624225 X:153008477-153008477 X:153743023-153743023
2 ABCD1 ABCD1, 1-BP DEL, 2204Gdeletion Pathogenic 11311
3 PTPN22 NM_015967.7(PTPN22):c.1858C>T (p.Arg620Trp)SNV Benign 8909 rs2476601 1:114377568-114377568 1:113834946-113834946

Cosmic variations for Hypoadrenocorticism, Familial:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM93201361 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.644G>C p.S215T 17:7674887-7674887 20

Copy number variations for Hypoadrenocorticism, Familial from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 17293 1 142400000 148000000 Deletion FCGR1C Addison''s disease

Expression for Hypoadrenocorticism, Familial

Search GEO for disease gene expression data for Hypoadrenocorticism, Familial.

Pathways for Hypoadrenocorticism, Familial

Pathways related to Hypoadrenocorticism, Familial according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 TPO TG STAR POMC NR5A1 NR0B1
3
Show member pathways
11.64 POMC MC2R CYP11A1
4 11.61 TPO TPH1 DDC
5 11.52 STAR POMC CYP21A2 CYP11A1 CRH
6
Show member pathways
11.46 CYP21A2 CYP17A1 CYP11A1
7
Show member pathways
11.3 STAR POMC CYP21A2 CYP17A1 CYP11A1
8 11.21 STAR CYP17A1 CYP11A1
9
Show member pathways
11.03 TPO TPH1 DDC
10 10.25 POMC CRH
11 10.15 TPO TG

GO Terms for Hypoadrenocorticism, Familial

Biological processes related to Hypoadrenocorticism, Familial according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 circadian rhythm GO:0007623 9.74 TPH1 STAR DDC
2 steroid metabolic process GO:0008202 9.71 CYP21A2 CYP17A1 CYP11A1 CRH
3 male gonad development GO:0008584 9.67 STAR REN NR5A1 NR0B1
4 response to corticosterone GO:0051412 9.59 STAR CRH
5 multicellular organism aging GO:0010259 9.58 NR5A1 DDC
6 thyroid hormone generation GO:0006590 9.58 TPO TG
7 male sex determination GO:0030238 9.56 NR5A1 NR0B1
8 hypothalamus development GO:0021854 9.55 NR0B1 CRH
9 C21-steroid hormone biosynthetic process GO:0006700 9.54 STAR CYP11A1
10 cellular response to alkaloid GO:0071312 9.52 STAR DDC
11 regulation of steroid biosynthetic process GO:0050810 9.51 STAR NR5A1
12 adrenal gland development GO:0030325 9.5 NR5A1 NR0B1 CRH
13 sex determination GO:0007530 9.49 NR5A1 NR0B1
14 indolalkylamine biosynthetic process GO:0046219 9.48 TPH1 DDC
15 diterpenoid metabolic process GO:0016101 9.46 STAR CRH
16 response to immobilization stress GO:0035902 9.46 TPH1 REN NR0B1 CRH
17 serotonin biosynthetic process GO:0042427 9.43 TPH1 DDC
18 hormone biosynthetic process GO:0042446 9.43 TPO TG CYP17A1
19 steroid biosynthetic process GO:0006694 9.35 STAR NR0B1 CYP21A2 CYP17A1 CYP11A1
20 glucocorticoid biosynthetic process GO:0006704 8.92 CYP21A2 CYP17A1 CYP11A1 CRH

Molecular functions related to Hypoadrenocorticism, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.72 TPO TPH1 CYP21A2 CYP17A1 CYP11A1
2 hormone activity GO:0005179 9.54 TG POMC CRH
3 heme binding GO:0020037 9.46 TPO CYP21A2 CYP17A1 CYP11A1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 CYP21A2 CYP17A1 CYP11A1
5 iron ion binding GO:0005506 9.26 TPH1 CYP21A2 CYP17A1 CYP11A1
6 monooxygenase activity GO:0004497 8.92 TPH1 CYP21A2 CYP17A1 CYP11A1

Sources for Hypoadrenocorticism, Familial

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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