MCID: HYP780
MIFTS: 61

Hypoadrenocorticism, Familial

Categories: Rare diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Hypoadrenocorticism, Familial

MalaCards integrated aliases for Hypoadrenocorticism, Familial:

Name: Hypoadrenocorticism, Familial 57 12
Addison Disease 57 12 53 59 43 44 73
Addison's Disease 12 76 53 37 6 15
Adrenal Hypoplasia 57 76 53 29
Adrenal Gland Hypofunction 53 73
Adrenal Aplasia 57 53
Addison Disease, Chronic Adrenal Insufficiency 12
Autoimmune Primary Adrenal Insufficiency 73
Addison's Disease Due to Autoimmunity 73
Primary Adrenocortical Insufficiency 12
Addison Disease, Susceptibility to 6
Hypoadrenocorticism Familial 53
Autoimmune Addison Disease 59
Classic Addison's Disease 59
Primary Addison's Disease 59
Primary Hypoadrenalism 12
Autoimmune Adrenalitis 59
Addisons Disease 55

Characteristics:

Orphanet epidemiological data:

59
addison disease
Prevalence: 1-5/10000,1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypoadrenocorticism, familial:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hypoadrenocorticism, Familial

NIH Rare Diseases : 53 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 adrenal hypoplasia, congenital and autoimmune addison disease. 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 Epinephrine and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and testes, and related phenotypes are hyperpigmentation of the skin and muscle weakness

MedlinePlus : 43 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

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

Wikipedia : 76 Addison\'s disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term... more...

Description 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 110)
# Related Disease Score Top Affiliating Genes
1 adrenal hypoplasia, congenital 34.4 NR0B1 STAR
2 autoimmune addison disease 33.5 AIRE CTLA4 CYP21A2 PTPN22
3 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 31.6 AIRE CYP11A1 CYP21A2 DDC
4 hypoadrenalism 30.5 CRH POMC
5 pyle disease 30.3 AIRE NR0B1
6 conn's syndrome 28.0 CRH CYP11A1 CYP21A2 MC2R POMC
7 lipoid congenital adrenal hyperplasia 28.0 CYP11A1 CYP21A2 MC2R POMC STAR
8 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 12.5
9 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 12.3
10 cytomegalic congenital adrenal hypoplasia 12.2
11 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone 12.0
12 adrenal hypoplasia, cytomegalic type 11.9
13 nr0b1-related adrenal hypoplasia congenita 11.9
14 adrenoleukodystrophy 11.9
15 mirage syndrome 11.8
16 autoimmune polyendocrine syndrome, type ii 11.6
17 glycerol kinase deficiency 11.2
18 chromosome xp21 deletion syndrome 11.2
19 ritscher-schinzel syndrome 1 10.9
20 restrictive dermopathy, lethal 10.8
21 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.6 CYP21A2 POMC
22 cytochrome p450 oxidoreductase deficiency 10.6 CYP21A2 POMC
23 type 1 diabetes mellitus 17 10.6 AIRE CTLA4
24 anterior uveitis 10.6 CTLA4 PTPN22
25 primary biliary cholangitis 10.5 CTLA4 PTPN22
26 pernicious anemia 10.4 AIRE TPO
27 luteoma 10.4 CYP21A2 STAR
28 glucocorticoid deficiency 1 10.4 MC2R POMC
29 sex differentiation disease 10.4 CYP21A2 POMC
30 hypothyroidism, congenital, nongoitrous, 4 10.4 POMC TPO
31 hypogonadism 10.4
32 hypogonadotropism 10.3
33 hypogonadotropic hypogonadism 10.3
34 myxedema 10.3 CTLA4 TPO
35 achalasia-addisonianism-alacrima syndrome 10.3 MC2R POMC
36 hypothalamic disease 10.3 CRH POMC
37 acute adrenal insufficiency 10.2 CYP11A1 CYP21A2 POMC
38 pituitary carcinoma 10.2 CRH POMC
39 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 10.2
40 acth deficiency, isolated 10.2 CRH POMC
41 nelson syndrome 10.2 CRH POMC
42 sheehan syndrome 10.2 CRH POMC
43 type 1 diabetes mellitus 5 10.2 AIRE CTLA4
44 acth-secreting pituitary adenoma 10.2 CRH POMC
45 cholesterol ester storage disease 10.2 CYP11A1 STAR
46 fasting hypoglycemia 10.2 CRH POMC
47 46,xy sex reversal 2 10.1
48 thyroiditis 10.1 CTLA4 PTPN22 TPO
49 hypersensitivity reaction disease 10.1 AIRE CTLA4 TPO
50 adrenal rest tumor 10.1 CYP21A2 MC2R POMC

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



Diseases related to Hypoadrenocorticism, Familial

Symptoms & Phenotypes for Hypoadrenocorticism, Familial

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures

Laboratory Abnormalities:
hypoglycemia
hyponatremia
hyperkalemia

Skin Nails Hair Skin:
pigmentation
neonatal cyanosis

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

Human phenotypes related to Hypoadrenocorticism, Familial:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperpigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000953
2 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
5 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
6 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
7 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
8 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
9 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
10 increased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003154
11 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
12 renal salt wasting 59 32 frequent (33%) Frequent (79-30%) HP:0000127
13 increased circulating renin level 59 32 frequent (33%) Frequent (79-30%) HP:0000848
14 normocytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001897
15 hyperuricemia 59 32 frequent (33%) Frequent (79-30%) HP:0002149
16 hyperkalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002153
17 hyponatremia 59 32 frequent (33%) Frequent (79-30%) HP:0002902
18 hyperkalemic metabolic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0005976
19 androgen insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008226
20 decreased urinary potassium 59 32 frequent (33%) Frequent (79-30%) HP:0012364
21 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
22 hypoparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000829
23 adrenal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000835
24 hashimoto thyroiditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000872
25 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
26 vitiligo 59 32 occasional (7.5%) Occasional (29-5%) HP:0001045
27 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
28 orthostatic hypotension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001278
29 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
30 sparse axillary hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002215
31 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
32 celiac disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0002608
33 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
34 hypercalcemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003072
35 generalized bone demineralization 59 32 occasional (7.5%) Occasional (29-5%) HP:0006462
36 premature ovarian insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008209
37 adrenal calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0010512
38 decreased female libido 59 32 occasional (7.5%) Occasional (29-5%) HP:0030018
39 salt craving 59 32 occasional (7.5%) Occasional (29-5%) HP:0030083
40 type i diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100651
41 thiamine-responsive megaloblastic anemia 59 32 very rare (1%) Very rare (<4-1%) HP:0004860
42 primary testicular failure 59 32 very rare (1%) Very rare (<4-1%) HP:0008720
43 thymoma 59 32 very rare (1%) Very rare (<4-1%) HP:0100522
44 primary adrenal insufficiency 59 Obligate (100%)
45 hypocortisolemia 59 Obligate (100%)
46 hypotension 59 Very frequent (99-80%)
47 autoimmunity 59 Very frequent (99-80%)
48 hypoaldosteronism 59 Frequent (79-30%)
49 primary ovarian failure 59 Occasional (29-5%)
50 adrenal insufficiency 32 HP:0000846

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.61 CRH CTLA4 CYP11A1 CYP21A2 MC2R POMC
2 Reduced mammosphere formation GR00396-S 9.1 NR0B1 POMC STAR ABCD1 CYP21A2 MC2R

MGI Mouse Phenotypes related to Hypoadrenocorticism, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.14 CTLA4 CYP11A1 MC2R NR0B1 POMC PTPN22
2 homeostasis/metabolism MP:0005376 10.03 ABCD1 AIRE CRH CTLA4 CYP11A1 DDC
3 growth/size/body region MP:0005378 10.02 AIRE CRH CYP11A1 DDC MC2R POMC
4 hematopoietic system MP:0005397 9.97 ABCD1 AIRE CRH CTLA4 CYP11A1 MC2R
5 immune system MP:0005387 9.85 TPO ABCD1 AIRE CRH CTLA4 CYP11A1
6 liver/biliary system MP:0005370 9.43 AIRE CRH CTLA4 CYP11A1 POMC PTPN22
7 mortality/aging MP:0010768 9.28 DDC MC2R POMC PTPN22 STAR TPO

Drugs & Therapeutics for Hypoadrenocorticism, Familial

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

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-43-4 5816
2
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-23-7 5754
3
Racepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 329-65-7 838
4
Cortisone acetate Approved, Investigational Phase 4,Not Applicable 1950-04-4, 50-04-4 5745
5
Cosyntropin Approved Phase 4 16960-16-0 16129617
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
7
Menthol Approved Phase 4 2216-51-5 16666
8
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
11
rituximab Approved Phase 4 174722-31-7 10201696
12
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
13 tannic acid Approved, Nutraceutical Phase 4
14
Butyric Acid Experimental, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 107-92-6 264
15 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16 Cortisol succinate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
17 Epinephryl borate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Hydrocortisone acetate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
20 Hydrocortisone-17-butyrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
21
Cortisone Phase 4,Not Applicable 53-06-5 222786
22 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
23 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
24 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
26 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1
28 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3,Phase 1
29 Adrenergic beta-Agonists Phase 4,Phase 2,Phase 3,Phase 1
30 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3,Phase 1
31 Antiemetics Phase 4
32 Antineoplastic Agents, Hormonal Phase 4,Phase 2
33 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
34 BB 1101 Phase 4
35 Bronchodilator Agents Phase 4,Phase 2,Phase 3,Phase 1
36 Dexamethasone acetate Phase 4 1177-87-3
37 Gastrointestinal Agents Phase 4
38 HIV Protease Inhibitors Phase 4
39 Mydriatics Phase 4,Phase 2,Phase 3,Phase 1
40 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
41 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
42
protease inhibitors Phase 4
43 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1
44 Vasoconstrictor Agents Phase 4,Phase 2,Phase 3,Phase 1
45 Antirheumatic Agents Phase 4,Phase 2
46 Methylprednisolone acetate Phase 4
47 Methylprednisolone Hemisuccinate Phase 4
48 Prednisolone acetate Phase 4
49 Prednisolone hemisuccinate Phase 4
50 Prednisolone phosphate Phase 4

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Dual RElease Hydrocortisone Versus conventionAl Glucocorticoid replaceMent Therapy in Hypocortisolism (DREAM) Completed NCT02277587 Phase 4 Plenadren;Conventional glucocorticoid therapy
2 Revival of Stem Cells in Addison's Study Completed NCT01371526 Phase 4 depot tetracosactide
3 Test Predicting Adrenal Insufficiency in Volunteers Under Prednisone Treatment Completed NCT00975078 Phase 4 prednisone
4 Rescue of Steroidogenic Capacity in Adrenocortical Failure Study (RADS) Completed NCT00753597 Phase 4 Solu-medrone, Mabthera
5 Taper Or Abrupt Steroid Stop: TOASSTtrial Recruiting NCT03153527 Phase 4 Prednisone
6 A Study of Markers of Glucocorticoid Effects in Patients With Addisons Disease (DOSCORT) Not yet recruiting NCT03210545 Phase 4 Dexamethasone
7 Glucocorticoid Treatment in Addison's Disease Completed NCT01063569 Phase 2, Phase 3 Solu-Cortef (hydrocortisone);Cortef (hydrocortisone)
8 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3 dehydroepiandrosterone
9 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
10 Study to Evaluate Immunogenicity of the Hepatitis B Antigen of the GSK Biologicals' Candidate Malaria Vaccine (257049) Completed NCT01345240 Phase 3
11 Effect of Cortisol on Physical Exertion in Patients With Primary Adrenal Failure Unknown status NCT01847690 Phase 2 Hydrocortisone
12 Continuous Subcutaneous Hydrocortisone Infusion In Addison`s Disease and Type 1 Diabetes Completed NCT01840189 Phase 2
13 Pharmacokinetics of Hydrocortisone After Subcutaneous Administration in Chronic Adrenal Insufficiency Completed NCT01450930 Phase 2 Hydrocortisone intramuscular first;Hydrocortisone subcutaneously first
14 Vaginal Prednisone Administration for Prevention of Adrenal Crisis Completed NCT02689960 Phase 2 100mg prednisone suppository
15 Evaluate Safety & Immunogenicity of a Pandemic Influenza Vaccine (GSK1562902A) in Children Completed NCT00502593 Phase 2
16 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Recruiting NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
17 Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Recruiting NCT03123016 Phase 2 Apremilast
18 Exercise Capacity and Recovery in Addison's Disease Unknown status NCT01657123 Not Applicable
19 Effects and Interactions of Liquorice and Grapefruit on Glucocorticoid Replacement Therapy in Addison's Disease Completed NCT01271296 Not Applicable
20 Biomarker(s) for Glucocorticoids Completed NCT02152553 Not Applicable Hydrocortisone;Placebo
21 Counterregulatory Hormone Production in Adrenal Insufficiency and Diabetes Type I Completed NCT01452893
22 Cardiovascular Status in Adrenal Insufficiency Completed NCT03426319
23 Adrenal Function After Living Kidney Donation Completed NCT00251836
24 The Hypothalamic-Pituitary-Adrenal (HPA) Axis as an Effector System in Weight Regulation Completed NCT00688987 Not Applicable Hydrocortisone
25 Survey in Patients With Chronic Adrenal Insufficiency in Germany Completed NCT00444119
26 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)
27 Adrenal Function in Critical Illness Completed NCT00156767
28 Circadian Function and Cardio-metabolic Risk in Adrenal Insufficiency Recruiting NCT03000231
29 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
30 Dynamic Hormone Diagnostics in Endocrine Disease Recruiting NCT02934399
31 Hyponatremia in Elderly Patients With Hip Fractures Not yet recruiting NCT03456492
32 Gene Polymorphisms Influencing Steroid Synthesis and Action Withdrawn NCT00485186

Search NIH Clinical Center for Hypoadrenocorticism, Familial

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: addison disease

Genetic Tests for Hypoadrenocorticism, Familial

Genetic tests related to Hypoadrenocorticism, Familial:

# Genetic test Affiliating Genes
1 Adrenal Hypoplasia 29

Anatomical Context for Hypoadrenocorticism, Familial

MalaCards organs/tissues related to Hypoadrenocorticism, Familial:

41
Adrenal Gland, Skin, Testes, Kidney, Adrenal Cortex, Cortex, Bone

Publications for Hypoadrenocorticism, Familial

Articles related to Hypoadrenocorticism, Familial:

(show all 25)
# Title Authors Year
1
Elevated serum RANTES chemokine levels in autoimmune Addison disease. ( 29498364 )
2018
2
Addison disease and normocalcemic primary hyperparathyroidism in a dog with multiple endocrine neoplasia. ( 29296592 )
2017
3
BONE MINERAL DENSITY IN PATIENTS WITH ADDISON DISEASE ON REPLACEMENT THERAPY WITH PREDNISOLONE. ( 26684152 )
2016
4
Addison Disease and Discoid Lupus Erythematosus: A Rare Association of Polyglandular Autoimmune Syndrome Type II. ( 27660939 )
2016
5
Secondary amenorrhea associated with high serum 17-hydroxyprogesterone levels revealing a heterozygous CYP21A2 mutation in a woman with Addison disease. ( 25353971 )
2014
6
Coexistence of Cushing syndrome from functional adrenal adenoma and Addison disease from immune-mediated adrenalitis. ( 22707647 )
2012
7
Diffuse hair loss in Addison disease: a reason for X-linked adrenoleukodystrophy screening. ( 22507581 )
2012
8
Treatment of addison disease and subsequent hypophosphatemic respiratory failure. ( 22115755 )
2012
9
Autoimmune Addison disease: pathophysiology and genetic complexity. ( 22290360 )
2012
10
Autoimmunity: autoimmune Addison disease and premature ovarian failure. ( 21750509 )
2011
11
Addison disease in adults: diagnosis and management. ( 20399314 )
2010
12
M. Pura et al. (Lubochna and Prague) with the title : &amp;quot;the low dose (1 microg) cosyntropin test (LDT) for primary adrenocortical insufficiency: defining the normal cortisol response and report on first patients with Addison disease confirmed with LDT&amp;quot; (ECED 2010; 118: 151-157). ( 20533153 )
2010
13
The low-dose (1 microg) cosyntropin test (LDT) for primary adrenocortical insufficiency: Defining the normal cortisol response and report on first patients with Addison disease confirmed with LDT. ( 19358090 )
2010
14
Exaggerated postsurgical inflammation in a patient with insufficiently treated Addison disease. ( 19273936 )
2009
15
Myasthenia gravis and autoimmune Addison disease in a patient with thymoma. ( 19808197 )
2009
16
High grade primary adrenal intravascular large B-cell lymphoma manifesting as Addison disease. ( 18020866 )
2007
17
Failure to diagnose: Addison disease. ( 17925910 )
2007
18
X-linked adrenoleukodystrophy presenting as Addison disease. ( 15923703 )
2005
19
Paraneoplastic neurologic syndrome and autoimmune Addison disease in a patient with thymoma. ( 15654180 )
2005
20
[Addison disease during pregnancy--a diagnostic dilemma. Symptoms are similar to normal pregnancy problems]. ( 16044755 )
2005
21
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. ( 9727847 )
1998
22
Rothmund-Thomson syndrome and Addison disease. ( 7659645 )
1995
23
X-linked adrenoleukodystrophy in patients with idiopathic Addison disease. ( 7957408 )
1994
24
Effect of glucocorticoid replacement therapy on bone mineral density in patients with Addison disease. ( 8273983 )
1994
25
[Complications after cesarean section in untreated Addison disease]. ( 8330717 )
1993

Variations for Hypoadrenocorticism, Familial

ClinVar genetic disease variations for Hypoadrenocorticism, Familial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN22 NM_015967.6(PTPN22): c.1858C> T (p.Arg620Trp) single nucleotide variant risk factor rs2476601 GRCh37 Chromosome 1, 114377568: 114377568
2 PTPN22 NM_015967.6(PTPN22): c.1858C> T (p.Arg620Trp) single nucleotide variant risk factor rs2476601 GRCh38 Chromosome 1, 113834946: 113834946
3 ABCD1 NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu) single nucleotide variant Pathogenic rs128624225 GRCh37 Chromosome X, 153008477: 153008477
4 ABCD1 NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu) single nucleotide variant Pathogenic rs128624225 GRCh38 Chromosome X, 153743023: 153743023
5 ABCD1 ABCD1, 1-BP DEL, 2204G deletion Pathogenic

Copy number variations for Hypoadrenocorticism, Familial from CNVD:

7
# CNVD ID Chromosom 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 CRH CYP11A1 CYP21A2 MC2R POMC STAR
3 11.71 CRH MC2R POMC
4
Show member pathways
11.47 CYP11A1 MC2R POMC
5
Show member pathways
11.4 CYP11A1 CYP21A2 POMC STAR
6
Show member pathways
11.03 DDC TPO
7 10.99 CRH CYP11A1 CYP21A2 POMC STAR
8 10.1 CRH POMC

GO Terms for Hypoadrenocorticism, Familial

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.61 CRH CYP11A1 CYP21A2
2 negative regulation of tumor necrosis factor production GO:0032720 9.52 POMC PTPN22
3 cellular response to dexamethasone stimulus GO:0071549 9.51 CRH STAR
4 sterol metabolic process GO:0016125 9.49 CYP11A1 CYP21A2
5 response to immobilization stress GO:0035902 9.48 CRH NR0B1
6 adrenal gland development GO:0030325 9.46 CRH NR0B1
7 response to corticosterone GO:0051412 9.4 CRH STAR
8 hypothalamus development GO:0021854 9.37 CRH NR0B1
9 C21-steroid hormone biosynthetic process GO:0006700 9.32 CYP11A1 STAR
10 cellular response to alkaloid GO:0071312 9.26 DDC STAR
11 steroid biosynthetic process GO:0006694 9.26 CYP11A1 CYP21A2 NR0B1 STAR
12 diterpenoid metabolic process GO:0016101 9.16 CRH STAR
13 glucocorticoid biosynthetic process GO:0006704 8.8 CRH CYP11A1 CYP21A2

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 8.96 CRH POMC
2 heme binding GO:0020037 8.8 CYP11A1 CYP21A2 TPO

Sources for Hypoadrenocorticism, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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