MCID: HYP780
MIFTS: 61

Hypoadrenocorticism, Familial

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Hypoadrenocorticism, Familial

MalaCards integrated aliases for Hypoadrenocorticism, Familial:

Name: Hypoadrenocorticism, Familial 57 12
Addison Disease 57 12 20 58 36 42 44 70
Addison's Disease 12 73 20 29 6 15
Adrenal Hypoplasia 57 73 20 29
Primary Adrenocortical Insufficiency 12 32
Adrenal Gland Hypofunction 20 70
Adrenal Aplasia 57 20
Addison Disease, Chronic Adrenal Insufficiency 12
Autoimmune Primary Adrenal Insufficiency 70
Addison's Disease Due to Autoimmunity 70
Addison Disease, Susceptibility to 6
Hypoadrenocorticism Familial 20
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
hypoadrenocorticism, familial:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Hypoadrenocorticism, Familial

GARD : 20 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 life-threatening 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. Treatment is focused on managing the symptoms and includes daily medications that replace the adrenal hormones. Treatment for an adrenal crisis may include intravenous hydrocortisone, fluids, and electrolytes, as well as drugs that normalize blood pressure.

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 adrenal hypoplasia, congenital. 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, cortex and adrenal cortex, and related phenotypes are decreased circulating cortisol level and failure to thrive

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 : 73 Addison's disease, also known as primary adrenal insufficiency and hypocortisolism, is a rare 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 589)
# Related Disease Score Top Affiliating Genes
1 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 33.0 NR5A1 NR0B1 MC2R CYP11A1
2 adrenal hypoplasia, congenital 32.9 STAR POMC NR5A1 NR0B1 MC2R IL1RAPL1
3 autoimmune polyendocrine syndrome, type ii 32.6 PTPN22 AIRE
4 nr0b1-related adrenal hypoplasia congenita 32.3 NR0B1 IL1RAPL1
5 achalasia-addisonianism-alacrima syndrome 32.2 STAR POMC NR0B1 MC2R
6 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.1 TPH1 DDC CYP21A2 CYP17A1 CYP11A1 AIRE
7 chromosome xp21 deletion syndrome 32.1 NR0B1 IL1RAPL1
8 glycerol kinase deficiency 32.0 NR5A1 NR0B1 IL1RAPL1
9 vitiligo-associated multiple autoimmune disease susceptibility 1 31.4 TPO PTPN22 POMC DDC CTLA4 AIRE
10 graves disease 1 30.9 TPO TG POMC
11 premature ovarian failure 7 30.9 NR5A1 ABCD1
12 hyperthyroidism 30.9 TPO TG POMC CTLA4
13 pernicious anemia 30.8 TPO TG PTPN22 AIRE
14 graves' disease 30.8 TPO TG PTPN22 CTLA4 AIRE
15 premature menopause 30.6 TPO TG STAR POMC NR5A1 NR0B1
16 hypoaldosteronism 30.5 REN POMC
17 46,xy sex reversal 2 30.4 STAR NR5A1 NR0B1 MC2R CYP21A2 CYP17A1
18 autoimmune hepatitis 30.4 TPO DDC CTLA4 AIRE
19 celiac disease 1 30.3 TPO TG PTPN22 CYP21A2 CTLA4 AIRE
20 autoimmune polyendocrine syndrome type 1 30.3 TPH1 DDC CYP21A2 AIRE
21 polyendocrinopathy 30.3 CYP11A1 AIRE
22 acute adrenal insufficiency 30.3 REN POMC CYP21A2 CYP11A1
23 adrenal gland disease 30.3 STAR REN POMC NR5A1 NR0B1 MC2R
24 thyroid crisis 30.3 TPO TG POMC
25 alopecia areata 30.2 TPO PTPN22 CTLA4 AIRE
26 autoimmune polyendocrine syndrome 30.2 TPO TPH1 TG DDC CYP21A2 CYP11A1
27 type 1 diabetes mellitus 12 30.2 PTPN22 CTLA4
28 precocious puberty, male-limited 30.1 POMC NR0B1 CYP21A2
29 hypospadias 30.1 NR5A1 CYP17A1 CYP11A1
30 inappropriate adh syndrome 30.1 REN POMC CRH
31 hypoparathyroidism 30.1 TPO CTLA4 AIRE
32 cryptorchidism, unilateral or bilateral 30.1 STAR POMC NR5A1 NR0B1 CYP17A1 CYP11A1
33 myxedema 30.1 TPO TG POMC CTLA4
34 autoimmune disease 30.1 TPO TG PTPN22 CTLA4 AIRE
35 pituitary-dependent cushing's disease 30.1 POMC CRH
36 hypothalamic disease 30.0 POMC CRH
37 type 1 diabetes mellitus 30.0 TPO TG REN PTPN22 CTLA4 AP4B1-AS1
38 nelson syndrome 30.0 POMC CRH
39 gangliocytoma 29.9 POMC CRH
40 glucocorticoid deficiency 1 29.9 POMC MC2R
41 hyperandrogenism 29.9 POMC CYP21A2 CYP17A1 CYP11A1
42 hypokalemia 29.9 REN POMC CYP17A1 CRH
43 ovarian disease 29.9 STAR REN POMC CYP17A1 CYP11A1
44 endogenous depression 29.9 TPH1 POMC CRH
45 diabetes insipidus 29.9 REN POMC CRH
46 thyroiditis 29.8 TPO TG PTPN22 CTLA4 AIRE
47 thyroid gland disease 29.8 TPO TG POMC CTLA4
48 amenorrhea 29.8 POMC NR5A1 CYP17A1 CRH
49 turner syndrome 29.8 TPO TG PTPN22 NR0B1 CYP21A2
50 pseudohermaphroditism 29.7 STAR POMC NR5A1 NR0B1 CYP21A2 CYP17A1

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 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
4 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
5 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
6 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
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 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
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 premature ovarian insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008209
28 hashimoto thyroiditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000872
29 vitiligo 58 31 occasional (7.5%) Occasional (29-5%) HP:0001045
30 celiac disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0002608
31 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
32 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
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 hypotension 58 Very frequent (99-80%)
48 feeding difficulties in infancy 31 HP:0008872
49 vomiting 31 HP:0002013
50 abnormality of the cardiovascular system 31 HP:0001626

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hypoadrenocorticism, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 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 10.28 AIRE CRH CYP11A1 CYP17A1 CYP21A2 DDC
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 10.07 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 9.32 ABCD1 AIRE CYP11A1 CYP17A1 DDC NR0B1

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
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Cosyntropin Approved Phase 4 16960-16-0 16129617
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Cortisone Experimental Phase 4 53-06-5 222786
6 Gastrointestinal Agents Phase 4
7 Antiemetics Phase 4
8 Hormone Antagonists Phase 4
9 Antineoplastic Agents, Hormonal Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Hydrocortisone-17-butyrate Phase 4
12
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 3 53-43-0 5881
13 insulin Phase 2, Phase 3
14 Insulin, Globin Zinc Phase 2, Phase 3
15 Immunologic Factors Phase 3
16 DHEA (Dehydroepiandrosterone) Phase 3
17 Adjuvants, Immunologic Phase 3
18
glycyrrhizin Approved, Experimental 1405-86-3 3495
19
Licorice Approved
20
Epinephrine Approved, Vet_approved 51-43-4 5816
21
Racepinephrine Approved 329-65-7 838
22
Hydrocortisone acetate Approved, Vet_approved 50-03-3
23
Hydrocortisone Approved, Vet_approved 50-23-7 5754
24 Grapefruit Seed Extract
25 Pharmaceutical Solutions
26 Corticotropin-Releasing Hormone
27 Epinephryl borate
28 glucocorticoids
29 Hormones
30 Hydrocortisone hemisuccinate
31 Hydrocortisone 17-butyrate 21-propionate
32 Adrenocorticotropic Hormone
33 Melanocyte-Stimulating Hormones
34 beta-Endorphin

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 A Dose-response Study of Markers of Glucocorticoid Effects (DOSCORT): A Single-blinded, Randomized, 2-dose, Cross-over Study Unknown status NCT03210545 Phase 4 Dexamethasone
2 Revival of Autochthonous Adrenocortical Stem Cells in Autoimmune Addison's Disease Completed NCT01371526 Phase 4 depot tetracosactide
3 Dexamethasone-suppression-test Predicts Later Development of Adrenal Insufficiency After a 14 Days' Course of Prednisone in Healthy Volunteers Completed NCT00975078 Phase 4 prednisone
4 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
5 Glucocorticoid Treatment in Addison's Disease Completed NCT01063569 Phase 2, Phase 3 Solu-Cortef (hydrocortisone);Cortef (hydrocortisone)
6 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3 dehydroepiandrosterone
7 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
8 Effect of Cortisol on Physical Exertion in Patients With Primary Adrenal Unknown status NCT01847690 Phase 2 Hydrocortisone
9 Vaginal Prednisone Administration for Prevention of Adrenal Crisis - a Bioequivalence Study Completed NCT02689960 Phase 2 100mg prednisone suppository
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 Effect of Hydrocortisone Stress Dose on Exercise Capacity and Post-exercise Recovery in Patients With Addison's Disease Unknown status NCT01657123
13 Use of Liquorice and Grapefruit in Patients With Addison's Disease Completed NCT01271296
14 Counterregulatory Hormone Production and Cognitive Function in Patients With Adrenal Insufficiency and Diabetes Mellitus Type I Completed NCT01452893
15 Prospective Evaluation of Adrenal Function After Living Donor Nephrectomy With or Without Ligation of the Adrenal Vein Completed NCT00251836
16 Protein/Metabolite Biomarker(s) for Glucocorticoid Action; an Experimental Trial in Patients With Adrenal Insufficiency Completed NCT02152553 Hydrocortisone;Placebo
17 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)
18 Survey in Patients With Chronic Adrenal Insufficiency in Germany Completed NCT00444119
19 Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Completed NCT03941184
20 Cortisol, Central Obesity, and Insulin Resistance: Long Term Studies in Addison's Patients Completed NCT00688987 Hydrocortisone
21 Residual Secretion of Adrenal Steroid Hormones in Addison's Disease Recruiting NCT03793114
22 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Clinical Study on Circadian Genes Dysregulation in Patients With Glucocorticoid Disorders Recruiting NCT04374721
24 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
25 Growing up With the Young Endocrine Support System (YESS!): Innovative E-technology to Improve Transition From Paediatric to Adult Care Not yet recruiting NCT04252001
26 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 70 / NDF-RT 51 :


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, Cortex, Adrenal Cortex, Bone, Pituitary, Skin, Thyroid

Publications for Hypoadrenocorticism, Familial

Articles related to Hypoadrenocorticism, Familial:

(show top 50) (show all 513)
# Title Authors PMID Year
1
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. 57 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. 57 54
10523017 1999
4
Residual Corticosteroid Production in Autoimmune Addison Disease. 61 42
32392298 2020
5
The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. 6
21841778 2011
6
Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis. 6
19898480 2009
7
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 6
19430480 2009
8
Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. 6
19265110 2009
9
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 6
18978792 2008
10
Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. 6
17878369 2007
11
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 6
17554300 2007
12
Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. 6
17436241 2007
13
Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. 6
17170052 2007
14
Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. 6
16339849 2006
15
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
16
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. 6
15719322 2005
17
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
18
The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. 6
15580548 2005
19
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. 6
15273934 2004
20
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. 6
15208781 2004
21
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. 6
15004560 2004
22
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. 6
8040304 1994
23
Familial congenital adrenal hypoplasia. 57
5702233 1968
24
Adrenal Cortical Hypoplasia in Siblings. 57
21032374 1960
25
Addison's disease in two brothers. 57
13654502 1959
26
Congenital adrenal hypoplasia in siblings. 57
13632060 1959
27
Familial occurrence of Addison's disease. 57
13381433 1956
28
Addison's disease: familial incidence and occurence in association with pernicious anemia. 57
13007404 1952
29
MANAGEMENT OF ENDOCRINE DISEASE: Residual adrenal function in Addison's disease. 42
33306039 2021
30
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. 42
33574239 2021
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. 61 54
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. 61 54
10851284 2000
36
Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure. 61 54
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. 54 61
7717396 1995
39
Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases. 54 61
7882511 1995
40
Improved Urinary Cortisol Metabolome in Addison Disease: A Prospective Trial of Dual-Release Hydrocortisone. 61
33236103 2021
41
A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess. 61
33284251 2021
42
Nonsevere Diabetic Ketoacidosis and Adrenal Insufficiency: Exploring the Impact of Glucocorticoid Replacement on Metabolic Outcomes and ICU Length of Stay. 61
33196048 2020
43
Coeliac disease is a risk factor for the development of seronegative arthritis in patients with autoimmune thyroid disease. 61
33197262 2020
44
Association of Vitamin D Pathway Gene CYP27B1 and CYP2R1 Polymorphisms with Autoimmune Endocrine Disorders: A Meta-Analysis. 61
32915988 2020
45
A Case of Critical Lower-Limb Ischemia in a 29-Year-Old Man with Autoimmune Polyglandular Syndrome Type 1 (APS-1). 61
33068390 2020
46
SEVERE HYPERCALCEMIA SECONDARY TO PARAFFIN OIL INJECTIONS IN A BODYBUILDER WITH SIGNIFICANT FINDINGS ON SCINTIGRAPHY. 61
32984528 2020
47
Acute coronary syndrome with ST segment elevation in a patient with Addison disease: Case report and brief review of physiopathological mechanisms: A case study. 61
32742359 2020
48
Current Management and Outcome of Pregnancies in Women With Adrenal Insufficiency: Experience from a Multicenter Survey. 61
32424397 2020
49
Natural History of Adrenal Steroidogenesis in Autoimmune Addison's Disease Following Diagnosis and Treatment. 61
32300791 2020
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Risk of incident autoimmune diseases in patients with thymectomy. 61
32478484 2020

Variations for Hypoadrenocorticism, Familial

ClinVar genetic disease variations for Hypoadrenocorticism, Familial:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCD1 ABCD1, 1-BP DEL, 2204G Deletion Pathogenic 11311 GRCh37:
GRCh38:
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_015967.7(PTPN22):c.1858C>T (p.Arg620Trp) SNV risk factor 8909 rs2476601 GRCh37: 1:114377568-114377568
GRCh38: 1:113834946-113834946

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 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
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
11.26 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 9.71 TPH1 STAR DDC
2 steroid metabolic process GO:0008202 9.71 CYP21A2 CYP17A1 CYP11A1 CRH
3 male gonad development GO:0008584 9.62 STAR REN NR5A1 NR0B1
4 response to corticosterone GO:0051412 9.59 STAR CRH
5 adrenal gland development GO:0030325 9.58 NR5A1 NR0B1
6 multicellular organism aging GO:0010259 9.58 NR5A1 DDC
7 thyroid hormone generation GO:0006590 9.57 TPO TG
8 hypothalamus development GO:0021854 9.56 NR0B1 CRH
9 steroid biosynthetic process GO:0006694 9.56 STAR CYP21A2 CYP17A1 CYP11A1
10 C21-steroid hormone biosynthetic process GO:0006700 9.55 STAR CYP11A1
11 regulation of steroid biosynthetic process GO:0050810 9.52 STAR NR5A1
12 male sex determination GO:0030238 9.51 NR5A1 NR0B1
13 cellular response to alkaloid GO:0071312 9.49 STAR DDC
14 sex determination GO:0007530 9.48 NR5A1 NR0B1
15 indolalkylamine biosynthetic process GO:0046219 9.46 TPH1 DDC
16 diterpenoid metabolic process GO:0016101 9.43 STAR CRH
17 serotonin biosynthetic process GO:0042427 9.37 TPH1 DDC
18 hormone biosynthetic process GO:0042446 9.33 TPO TG CYP17A1
19 glucocorticoid biosynthetic process GO:0006704 9.13 CYP21A2 CYP17A1 CYP11A1
20 response to immobilization stress GO:0035902 8.92 TPH1 REN NR0B1 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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