MCID: HYP780
MIFTS: 63

Hypoadrenocorticism, Familial

Categories: Endocrine diseases, Rare diseases
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Aliases & Classifications for Hypoadrenocorticism, Familial

MalaCards integrated aliases for Hypoadrenocorticism, Familial:

Name: Hypoadrenocorticism, Familial 57 11
Addison Disease 57 11 19 58 41 43 71
Primary Adrenocortical Insufficiency 11 28 5 31
Adrenal Gland Hypofunction 19 75 5 71
Addison's Disease 11 19 75 14
Adrenal Hypoplasia 57 19 75
Adrenal Aplasia 57 19
Addison Disease, Chronic Adrenal Insufficiency 11
Autoimmune Primary Adrenal Insufficiency 71
Addison's Disease Due to Autoimmunity 71
Addison Disease, Susceptibility to 5
Hypoadrenocorticism Familial 19
Autoimmune Addison Disease 58
Classic Addison Disease 58
Primary Addison Disease 58
Primary Hypoadrenalism 11
Autoimmune Adrenalitis 58
Addisons Disease 53

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Addison Disease: 1-5/10000 (Specific population, Europe, Norway) 1-9/100000 (United Kingdom) 58

Age Of Onset:

Addison Disease: All ages 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Hypoadrenocorticism, Familial

MedlinePlus: 41 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

MalaCards based summary: Hypoadrenocorticism, Familial, also known as addison disease, is related to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and autoimmune polyendocrine syndrome, type ii. An important gene associated with Hypoadrenocorticism, Familial is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Racepinephrine and Tetracosactide have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, adrenal cortex and cortex, and related phenotypes are decreased circulating cortisol level and failure to thrive

GARD: 19 Addison's disease occurs when the adrenal glands do not produce enough (or any) of the hormones, cortisol and aldosterone. These adrenal gland hormones are necessary for balancing water and energy in the body. Symptoms usually develop slowly over time, and may include fatigue, loss of appetite, abdominal pain, and dark patches of skin. Sometimes symptoms occur suddenly causing a condition called acute adrenal failure, also known as an acute adrenal crisis. Symptoms of an acute adrenal crisis include sudden weakness, pain, and fainting. The most common cause of Addison's disease is an abnormal response of the body's immune system. Injury to the adrenal gland can also cause Addison's disease. Diagnosis is based on the the symptoms, blood and urine tests that evaluate adrenal function, and imaging studies.

Orphanet: 58 A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).

Disease Ontology: 11 An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.

Wikipedia 75 Addison's disease: Addison's disease, also known as primary adrenal insufficiency, is a rare long-term endocrine disorder... more...

Adrenal gland hypofunction: Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of... more...

Adrenal hypoplasia: X-linked adrenal hypoplasia congenita is a genetic disorder that mainly affects males. It involves many... 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 715)
# Related Disease Score Top Affiliating Genes
1 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 32.8 NR5A1 NR0B1 MC2R GK CYP11A1
2 autoimmune polyendocrine syndrome, type ii 32.8 PTPN22 POMC AIRE
3 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.6 DDC CYP21A2 CYP17A1 CYP11A1 AIRE
4 adrenal hypoplasia, congenital 32.5 STAR POMC NR5A1 NR0B1 MC2R HSD3B2
5 chromosome xp21 deletion syndrome 32.3 NR0B1 GK
6 glycerol kinase deficiency 32.1 POMC NR5A1 NR0B1 GK
7 pernicious anemia 32.0 TPO TG PTPN22 AIRE
8 premature ovarian failure 7 31.6 POMC NR5A1 CRH
9 vitiligo-associated multiple autoimmune disease susceptibility 1 31.4 TPO TG PTPN22 POMC DDC CTLA4
10 acute adrenal insufficiency 31.1 POMC CYP21A2 CYP11A1
11 hypogonadotropic hypogonadism 30.9 STAR POMC NR5A1 NR0B1 HSD3B2 CYP21A2
12 pituitary-dependent cushing's disease 30.9 POMC MC2R CRH
13 premature menopause 30.8 TPO TG STAR REN POMC NR5A1
14 hyperthyroidism 30.8 TPO TG REN POMC CTLA4
15 nelson syndrome 30.6 POMC CRH
16 turner syndrome 30.6 TPO TG PTPN22 NR0B1 CYP21A2
17 graves disease 1 30.5 TPO TG POMC
18 hypoaldosteronism 30.5 REN POMC
19 type 1 diabetes mellitus 30.5 TPO TG PTPN22 CTLA4 AP4B1-AS1 AIRE
20 temporal arteritis 30.5 PTPN22 POMC CTLA4
21 adrenal gland disease 30.5 STAR REN POMC NR5A1 NR0B1 MC2R
22 inappropriate adh syndrome 30.5 REN POMC CRH
23 46,xy sex reversal 2 30.4 STAR NR5A1 NR0B1 MC2R HSD3B2 CYP21A2
24 hypoparathyroidism 30.4 TPO CTLA4 AIRE
25 graves ophthalmopathy 30.4 TG CTLA4
26 sheehan syndrome 30.4 POMC CRH
27 thyroid crisis 30.3 TPO TG POMC
28 autoimmune disease 30.3 TPO TG PTPN22 DDC CTLA4 AIRE
29 hypokalemia 30.3 REN POMC CYP17A1 CRH
30 autoimmune hepatitis 30.3 TPO PTPN22 DDC CTLA4 AIRE
31 graves' disease 30.3 TPO TG PTPN22 CTLA4 AIRE
32 pure autonomic failure 30.3 REN DDC
33 alopecia areata 30.2 TPO PTPN22 CTLA4 AIRE
34 thyroiditis 30.2 TPO TG PTPN22 CTLA4 AIRE
35 myxedema 30.2 TPO TG POMC CTLA4
36 hypothyroidism 30.1 TPO TG REN PTPN22 POMC CTLA4
37 myasthenia gravis 30.1 PTPN22 CTLA4 AIRE
38 central pontine myelinolysis 30.1 REN POMC
39 hypothalamic disease 30.1 POMC CRH
40 hashimoto thyroiditis 30.1 TPO TG PTPN22 CTLA4 AP4B1-AS1 AIRE
41 melancholia 30.1 POMC CRH
42 celiac disease 1 30.1 TPO TG PTPN22 CYP21A2 CTLA4 AIRE
43 hypospadias 30.0 NR5A1 HSD3B2 CYP17A1 CYP11A1
44 autoimmune polyendocrine syndrome 30.0 TG PTPN22 CYP11A1 AIRE
45 achalasia-addisonianism-alacrima syndrome 30.0 POMC NR0B1 MC2R CYP11A1
46 adult syndrome 30.0 REN POMC CRH
47 cryptorchidism, unilateral or bilateral 29.9 STAR POMC NR5A1 NR0B1 HSD3B2 CYP21A2
48 amenorrhea 29.9 POMC NR5A1 CYP17A1 CRH
49 acne 29.9 POMC CYP21A2 CYP17A1 CRH
50 acth deficiency, isolated 29.9 POMC CRH

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:

30 58 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased circulating cortisol level 30 Obligate (100%) HP:0008163
2 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
3 nausea and vomiting 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002017
4 constipation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002019
5 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001324
6 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012378
7 abdominal pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002027
8 anorexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002039
9 weight loss 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001824
10 diarrhea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002014
11 hyperpigmentation of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000953
12 increased circulating acth level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003154
13 hyperuricemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002149
14 hyponatremia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002902
15 hyperkalemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002153
16 decreased circulating aldosterone level 58 30 Frequent (33%) Frequent (79-30%)
HP:0004319
17 normocytic anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001897
18 renal salt wasting 58 30 Frequent (33%) Frequent (79-30%)
HP:0000127
19 increased circulating renin level 58 30 Frequent (33%) Frequent (79-30%)
HP:0000848
20 decreased urinary potassium 58 30 Frequent (33%) Frequent (79-30%)
HP:0012364
21 hyperkalemic metabolic acidosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0005976
22 androgen insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0008226
23 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
24 delayed puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000823
25 type i diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100651
26 hypoglycemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001943
27 dry skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000958
28 premature ovarian insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008209
29 hashimoto thyroiditis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000872
30 vitiligo 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001045
31 celiac disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002608
32 vertigo 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002321
33 arthralgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002829
34 hypoparathyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000829
35 hypercalcemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003072
36 orthostatic hypotension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001278
37 sparse axillary hair 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002215
38 adrenal hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000835
39 adrenal calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010512
40 decreased female libido 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030018
41 salt craving 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030083
42 generalized bone demineralization 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006462
43 thymoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100522
44 thiamine-responsive megaloblastic anemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004860
45 primary testicular failure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008720
46 hypotension 58 Very frequent (99-80%)
47 feeding difficulties in infancy 30 HP:0008872
48 vomiting 30 HP:0002013
49 abnormality of the cardiovascular system 30 HP:0001626
50 autoimmunity 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Gastrointestinal:
vomiting
feeding difficulties

Endocrine Features:
adrenal hypoplasia
adrenal insufficiency
adrenal aplasia

Skin Nails Hair Skin:
neonatal cyanosis
pigmentation

Respiratory:
neonatal episodic apnea

Laboratory Abnormalities:
hypoglycemia
hyponatremia
hyperkalemia

Neurologic Central Nervous System:
seizures

Cardiovascular Vascular:
vascular collapse

Clinical features from OMIM®:

240200 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 ABCD1 CYP21A2 HSD3B2 MC2R NR0B1 POMC

MGI Mouse Phenotypes related to Hypoadrenocorticism, Familial:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 ABCD1 AIRE CRH CTLA4 CYP11A1 CYP17A1
2 growth/size/body region MP:0005378 10.28 AIRE CRH CYP11A1 CYP17A1 CYP21A2 DDC
3 endocrine/exocrine gland MP:0005379 10.21 ABCD1 AIRE CRH CTLA4 CYP11A1 GK
4 nervous system MP:0003631 10.2 ABCD1 AIRE CRH CYP11A1 DDC GK
5 behavior/neurological MP:0005386 10.17 ABCD1 AIRE CRH CYP11A1 CYP17A1 CYP21A2
6 immune system MP:0005387 10.07 ABCD1 AIRE CRH CTLA4 CYP11A1 CYP21A2
7 reproductive system MP:0005389 9.9 ABCD1 AIRE CYP11A1 CYP17A1 DDC GK
8 hematopoietic system MP:0005397 9.77 ABCD1 AIRE CRH CTLA4 CYP11A1 CYP21A2
9 mortality/aging MP:0010768 9.5 ABCD1 AIRE CTLA4 CYP11A1 CYP17A1 CYP21A2

Drugs & Therapeutics for Hypoadrenocorticism, Familial

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
2
Tetracosactide Approved Phase 4 16960-16-0 16133802 16129617
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
5
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
6
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
7
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
8
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
9
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
10
Cortisone Experimental Phase 4 53-06-5 222786
11 Epinephryl borate Phase 4
12 Hormones Phase 4
13 Hormone Antagonists Phase 4
14 Antineoplastic Agents, Hormonal Phase 4
15 Anti-Inflammatory Agents Phase 4
16 Hydrocortisone-17-butyrate Phase 4
17 Hydrocortisone 17-butyrate 21-propionate Phase 4
18 glucocorticoids Phase 4
19 Anti-Asthmatic Agents Phase 4
20 Respiratory System Agents Phase 4
21
Prasterone Approved, Investigational, Nutraceutical Phase 3 53-43-0 5881
22 Insulin, Globin Zinc Phase 2, Phase 3
23
Insulin Phase 2, Phase 3
24 DHEA (Dehydroepiandrosterone) Phase 3
25 Adjuvants, Immunologic Phase 3
26 Immunologic Factors Phase 3
27
Licorice Approved
28
Glycyrrhizic acid Approved, Experimental 1405-86-3 3495 14982
29 Pharmaceutical Solutions
30 Grapefruit Seed Extract
31 Corticotropin-Releasing Hormone
32 Melanocyte-Stimulating Hormones
33 Adrenocorticotropic Hormone
34
beta-Endorphin

Interventional clinical trials:

(show all 28)
# 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 Dexamethasone-suppression-test Predicts Later Development of Adrenal Insufficiency After a 14 Days' Course of Prednisone in Healthy Volunteers Completed NCT00975078 Phase 4 prednisone
3 Revival of Autochthonous Adrenocortical Stem Cells in Autoimmune Addison's Disease Completed NCT01371526 Phase 4 depot tetracosactide
4 A Dose-response Study of Markers of Glucocorticoid Effects (DOSCORT): A Double-blinded, Randomized, 2-dose, Cross-over Study Recruiting NCT03210545 Phase 4 Betamethasone
5 An Open Label Pilot Study to Investigate the Effects of Two Preparations of Hydrocortisone (Hydrocortisone 100mg/ml and Solu-Cortef) Injected Intramuscularly Into the Deltoid and Upper Thigh Muscle During the State of Hypocortisolaemia Recruiting NCT05350020 Phase 4 Solu-Cortef 100 MG Injection;Hydrocortisone 100mg/ml
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 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
9 Effect of Cortisol on Physical Exertion in Patients With Primary Adrenal Unknown status NCT01847690 Phase 2 Hydrocortisone
10 Continuous Subcutaneous Hydrocortisone Infusion In Addison's Disease and Type 1 Diabetes Completed NCT01840189 Phase 2
11 Pharmacokinetics of Hydrocortisone After Subcutaneous Administration Compared With Intramuscular Injection in Chronic Adrenal Insufficiency Completed NCT01450930 Phase 2 Hydrocortisone intramuscular first;Hydrocortisone subcutaneously first
12 A Double-Blind, Double-Dummy, Two-Way Cross-Over, Randomised, Phase II Study of Efficacy, Safety and Tolerability of Modified-Release Hydrocortisones: Chronocort® Versus Plenadren®, in Adrenal Insufficiency Recruiting NCT05222152 Phase 2 Chronocort;Plenadren
13 Effect of Hydrocortisone Stress Dose on Exercise Capacity and Post-exercise Recovery in Patients With Addison's Disease Unknown status NCT01657123
14 Prospective Evaluation of Adrenal Function After Living Donor Nephrectomy With or Without Ligation of the Adrenal Vein Completed NCT00251836
15 Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Completed NCT03941184
16 Protein/Metabolite Biomarker(s) for Glucocorticoid Action; an Experimental Trial in Patients With Adrenal Insufficiency Completed NCT02152553 Hydrocortisone;Placebo
17 Use of Liquorice and Grapefruit in Patients With Addison's Disease Completed NCT01271296
18 Survey in Patients With Chronic Adrenal Insufficiency in Germany Completed NCT00444119
19 Cortisol, Central Obesity, and Insulin Resistance: Long Term Studies in Addison's Patients Completed NCT00688987 Hydrocortisone
20 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)
21 Counterregulatory Hormone Production and Cognitive Function in Patients With Adrenal Insufficiency and Diabetes Mellitus Type I Completed NCT01452893
22 Does Relative Hypoglycaemia &/or Sleep Disturbance Contribute to the Lethargy Observed in Addison's Disease Recruiting NCT05515055
23 Clinical Study on Circadian Genes Dysregulation in Patients With Glucocorticoid Disorders Recruiting NCT04374721
24 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
25 Residual Secretion of Adrenal Steroid Hormones in Addison's Disease Active, not recruiting NCT03793114
26 Additional Autoimmune Diseases With Type 1 Diabetes in Children and Adolescents at Diabetes Diagnostic and During Follow-up : a Monocentric Study in France Enrolling by invitation NCT04789993
27 Growing up With the Young Endocrine Support System (YESS!): Innovative E-technology to Improve Transition From Paediatric to Adult Care Not yet recruiting NCT04252001
28 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 Primary Adrenocortical Insufficiency 28

Anatomical Context for Hypoadrenocorticism, Familial

Organs/tissues related to Hypoadrenocorticism, Familial:

MalaCards : Adrenal Gland, Adrenal Cortex, Cortex, Skin, Kidney, Bone, Pituitary

Publications for Hypoadrenocorticism, Familial

Articles related to Hypoadrenocorticism, Familial:

(show top 50) (show all 4563)
# Title Authors PMID Year
1
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. 53 62 57 5
18301444 2008
2
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. 53 62 5
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. 53 62 57
10523017 1999
4
Familial congenital adrenal hypoplasia. 62 57
5702233 1968
5
Addison's disease in two brothers. 62 57
13654502 1959
6
Congenital adrenal hypoplasia in siblings. 62 57
13632060 1959
7
Familial occurrence of Addison's disease. 62 57
13381433 1956
8
Addison's disease: familial incidence and occurence in association with pernicious anemia. 62 57
13007404 1952
9
Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene. 62 41
36443461 2022
10
Repeatability assessment of sodium (23Na) MRI at 7.0 T in healthy human calf muscle and preliminary results on tissue sodium concentrations in subjects with Addison's disease. 62 41
36266679 2022
11
The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. 5
21841778 2011
12
Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis. 5
19898480 2009
13
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 5
19430480 2009
14
Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. 5
19265110 2009
15
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 5
18978792 2008
16
Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. 5
17878369 2007
17
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 5
17554300 2007
18
Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. 5
17436241 2007
19
Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. 5
17170052 2007
20
Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. 5
16339849 2006
21
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. 5
16470599 2006
22
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. 5
15719322 2005
23
Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. 5
15744042 2005
24
The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. 5
15580548 2005
25
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. 5
15273934 2004
26
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. 5
15208781 2004
27
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. 5
15004560 2004
28
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. 5
8040304 1994
29
Adrenal Cortical Hypoplasia in Siblings. 57
21032374 1960
30
Clinical manifestations and associated factors in acquired hypoaldosteronism in endocrinological practice. 41
36303866 2022
31
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. 53 62
19508677 2010
32
Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies. 53 62
19884265 2010
33
Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. 53 62
19903795 2010
34
Homozygosity of the polymorphism MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetes. 53 62
19820007 2009
35
X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene. 53 62
19773398 2009
36
A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis. 53 62
19672728 2009
37
Immunology of Addison's disease and premature ovarian failure. 53 62
19328418 2009
38
Pathogenesis of primary adrenal insufficiency. 53 62
19500759 2009
39
Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis. 53 62
19188450 2009
40
The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease. 53 62
18710467 2009
41
Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene. 53 62
18607630 2009
42
[A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal congenital hypoplasia]. 53 62
19199243 2009
43
X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene. 53 62
19129717 2009
44
A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation. 53 62
19339795 2009
45
Plasma alpha-melanocyte-stimulating hormone: sex differences and correlations with obesity. 53 62
19059526 2009
46
Novel homozygous AIRE mutation in a German patient with severe APECED. 53 62
19209622 2008
47
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. 53 62
18762570 2008
48
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. 53 62
18426830 2008
49
Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene. 53 62
18380948 2008
50
Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity. 53 62
18202527 2008

Variations for Hypoadrenocorticism, Familial

ClinVar genetic disease variations for Hypoadrenocorticism, Familial:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCD1 NM_000033.4(ABCD1):c.1820del (p.Gly607fs) DEL Pathogenic
11311 GRCh37: X:153008478-153008478
GRCh38: X:153743024-153743024
2 ABCD1 NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) SNV Pathogenic
11310 rs128624225 GRCh37: X:153008477-153008477
GRCh38: X:153743023-153743023
3 AP4B1-AS1, PTPN22 NM_015967.8(PTPN22):c.1858= (p.Trp620=) SNV Risk Factor
8909 rs2476601 GRCh37: 1:114377568-114377568
GRCh38: 1:113834946-113834946
4 TBX19 NM_005149.3(TBX19):c.477G>C (p.Leu159Phe) SNV Uncertain Significance
633476 rs1558190989 GRCh37: 1:168262390-168262390
GRCh38: 1:168293152-168293152
5 TBX19 NM_005149.3(TBX19):c.210G>T (p.Met70Ile) SNV Uncertain Significance
633477 rs1558190316 GRCh37: 1:168260404-168260404
GRCh38: 1:168291166-168291166

Copy number variations for Hypoadrenocorticism, Familial from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 17293 1 142400000 148000000 Deletion FCGR1CP 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
13.52 TPO STAR POMC HSD3B2 GK DDC
2
Show member pathways
12.45 POMC MC2R CYP21A2 CYP17A1 CYP11A1
3
Show member pathways
12.29 STAR POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
4
Show member pathways
11.42 STAR POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
5 11.06 STAR POMC HSD3B2 CYP21A2 CYP11A1 CRH
6 11.03 CYP11A1 CYP17A1 CYP21A2
7 10.8 TPO TG
8 10.73 PTPN22 CTLA4
9 10.5 STAR HSD3B2 CYP17A1 CYP11A1
10
Show member pathways
10.36 HSD3B2 CYP11A1
11 10.28 POMC CRH

GO Terms for Hypoadrenocorticism, Familial

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

# Name GO ID Score Top Affiliating Genes
1 regulation of steroid biosynthetic process GO:0050810 9.76 STAR NR5A1
2 androgen biosynthetic process GO:0006702 9.73 HSD3B2 CYP17A1
3 adrenal gland development GO:0030325 9.73 CRH NR0B1 NR5A1
4 Sertoli cell differentiation GO:0060008 9.71 NR5A1 NR0B1
5 hormone biosynthetic process GO:0042446 9.63 TPO TG CYP17A1
6 steroid biosynthetic process GO:0006694 9.61 STAR HSD3B2 CYP21A2 CYP17A1 CYP11A1
7 sex determination GO:0007530 9.54 NR5A1 NR0B1
8 C21-steroid hormone metabolic process GO:0008207 9.5 HSD3B2 CYP11A1
9 glucocorticoid biosynthetic process GO:0006704 9.23 CYP21A2 CYP17A1 CYP11A1 CRH

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.56 TPO CYP21A2 CYP17A1 CYP11A1
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.8 CYP21A2 CYP17A1 CYP11A1

Sources for Hypoadrenocorticism, Familial

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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