{"Name":"Autoimmune primary adrenal insufficiency","DiseaseID__c":"GARD:0005740","id":5740,"encodedName":"autoimmune-primary-adrenal-insufficiency","IsDeleted":false,"Disease_Name_Full__c":"Autoimmune primary adrenal insufficiency","Xref_IDs__c":"C0271737; C113814; MEDGEN:543526; MONDO:0100480; ORPHA:85138","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0100480","Disease_Description__c":"Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.","GARD_Name__c":"Autoimmune primary adrenal insufficiency","GARD_Synonym__c":"addison disease due to autoimmunity; addison's disease due to autoimmunity; autoimmune addison disease; autoimmune addison's disease; autoimmune adrenal atrophy; autoimmune adrenalitis; classic addison disease; classic addison's disease; primary addison disease; primary addison's disease","Curated_Disease_Description_Source__c":"GARD:0005740","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:85138","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100480","ORPHANET_ID__c":"ORPHA:85138","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de addison","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de addison","Spanish_GARD_Synonym__c":"adrenalitis autoinmune; enfermedad de addison autoinmune; enfermedad de addison clásica; enfermedad de addison primaria","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"GARD:0005740","GARD_Synonym__c":"addison disease due to autoimmunity; addison's disease due to autoimmunity; autoimmune addison disease; autoimmune addison's disease; autoimmune adrenal atrophy; autoimmune adrenalitis; classic addison disease; classic addison's disease; primary addison disease; primary addison's disease","Name":"Autoimmune primary adrenal insufficiency","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ben's Friends","Website__c":"https://www.bensfriends.org/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Nacional de Addison y otras Enfermedades Endocrinas","Website__c":"https://adisen.es/"},{"Account_Name__c":"Pituitary Network Association","Website__c":"https://pituitary.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"},{"Account_Name__c":"Adrenal Insufficiency United","Website__c":"https://aiunited.org/"},{"Account_Name__c":"National Adrenal Diseases Foundation","Website__c":"https://www.nadf.us"},{"Account_Name__c":"Addison's Disease Self Help Group","Website__c":"https://www.addisonsdisease.org.uk"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:85138"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0001403"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=543526","Source__c":"C0271737","Xref__c":"MEDGEN:543526"},{"URL__c":"https://www.orpha.net/en/disease/detail/85138","Source__c":"C0271737; MONDO:0100480","Xref__c":"ORPHA:85138"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C113814","Source__c":"C0271737; MONDO:0100480","Xref__c":"C113814"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271737","Source__c":"C0271737","Xref__c":"C0271737"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100480","Source__c":"GARD:0005740","Xref__c":"MONDO:0100480"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=76715008","Source__c":"C0271737","Xref__c":"76715008"},{"URL__c":"https://medlineplus.gov/genetics/condition/autoimmune-addison-disease","Source__c":"GARD:0005740","Xref__c":"https://medlineplus.gov/genetics/condition/autoimmune-addison-disease"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001045","HPO_Synonym__c":"Blotchy loss of skin color","HPO_Name__c":"Vitiligo","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diminished sexual desire in female.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030018","HPO_Synonym__c":"Decreased female sex drive","HPO_Name__c":"Decreased female libido","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002608","HPO_Synonym__c":"Celiac disease; Celiac sprue","HPO_Name__c":"Celiac disease","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Calcification within the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010512","HPO_Name__c":"Adrenal calcification","Feature_System__c":"Musculoskeletal System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic, autoimmune type of thyroiditis associated with hypothyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000872","HPO_Synonym__c":"Chronic lymphocytic thyroiditis; Hashimoto's thyroiditis","HPO_Name__c":"Hashimoto thyroiditis","Feature_System__c":"Endocrine System; 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It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008209","HPO_Synonym__c":"Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause; Premature ovarian failure; Primary ovarian insufficiency","HPO_Name__c":"Premature ovarian insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced number or density of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002215","HPO_Synonym__c":"Limited armpit hair; Little underarm hair; sparse to absent axillary hair","HPO_Name__c":"Sparse axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally reduced levels of aldosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004319","HPO_Synonym__c":"Decreased aldosterone; Decreased aldosterone production; Decreased serum aldosterone; Hypoaldosteronism; Low blood aldosterone level; Mineralocorticoid insufficiency","HPO_Name__c":"Decreased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005976","HPO_Name__c":"Hyperkalemic metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034061","HPO_Synonym__c":"Anti-P450C17","HPO_Name__c":"Anti-steroid 17alpha-hydroxylase antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized decrease in bone mineral density.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006462","HPO_Name__c":"Generalized bone demineralization","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100651","HPO_Synonym__c":"Diabetes mellitus Type I; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes","HPO_Name__c":"Type I diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85138","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001278","HPO_Synonym__c":"Decrease in blood pressure upon standing up; Postural hypotension","HPO_Name__c":"Orthostatic hypotension","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Endocrine"],"Specialist":["Endocrine","Pediatrics"]},"synonyms":["addison disease due to autoimmunity"," addison's disease due to autoimmunity"," autoimmune addison disease"," autoimmune addison's disease"," autoimmune adrenal atrophy"," autoimmune adrenalitis"," classic addison disease"," classic addison's disease"," primary addison disease"," primary addison's disease"],"spanishId":13685,"spanishName":"enfermedad-de-addison"}