Hypoadrenocorticism, Familial

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OMIM 57 240200 Disease Ontology 12 DOID:13774 ICD10 33 E27.1 MeSH 44 D000224 NCIt 50 C26689 SNOMED-CT 68 68588005 Orphanet 59 ORPHA85138

MESH via Orphanet 45 D000224 UMLS via Orphanet 74 C0001403 C0271737 ICD10 via Orphanet 34 E27.1 MedGen 42 C1868690 KEGG 37 H01598 SNOMED-CT via HPO 69 258211005 123526007 400003000 36976004 237774001 111563005 237785004 386584007 21983002 4830009 49765009 16386004 119419001 3415004 56727007 128613002 246545002 313307000 84757009 91175000 28651003 26544005 36440009 432788009 49601007 161832001 262285001 89362005 300980002 237630007 271327008 302866003 249497008 300359004 422400008 267060006 62315008 16932000 14760008 225595004 21522001 79890006 1023001 248583008 35885006 14140009 166689004 238142003 271789005 399090003 399153001 404640003 396331005 57676002 89627008 166702002 66931009 60086000 12907000 373717006 38825009 370997001 48723006 12286000 10649000 54781007 91632005 248274002 84229001 128856005 444231005 46635009 more UMLS 73 C0001403 C2103602 C0001623 C0271737 more

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 Cushing syndrome. Affiliated tissues include adrenal gland, skin and testes, and related phenotypes are seizures and muscle weakness

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

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

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

Description from OMIM: 240200

Clinical features from OMIM:

240200

#	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	ABCD1 CYP21A2 MC2R NR0B1 POMC STAR

Search Clinical Trials , NIH Clinical Center for Hypoadrenocorticism, Familial

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

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