{"Name":"Polyglandular autoimmune syndrome, type 2","DiseaseID__c":"GARD:0007611","id":7611,"encodedName":"polyglandular-autoimmune-syndrome-type-2","IsDeleted":false,"Disease_Name_Full__c":"Polyglandular autoimmune syndrome, type 2","Xref_IDs__c":"83728000; C0085860; C129728; DOID:0050168; MEDGEN:39126; MONDO:0010012; OMIM:269200; ORPHA:3143","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010012","Disease_Description__c":"Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.","GARD_Name__c":"Polyglandular autoimmune syndrome, type 2","GARD_Synonym__c":"addison's disease with struma lymphomatosa; aps ii; aps type 2; aps2; autoimmune polyendocrine syndrome type 2; autoimmune polyendocrine syndrome type ii; autoimmune polyendocrine syndrome, type ii; autoimmune polyendocrinopathy type 2; autoimmune polyglandular syndrome type 2; autoimmune thyroid disease and/or type 1 diabetes-addison disease syndrome; diabetes mellitus, addison disease, myxedema; diabetes mellitus, addison's disease and myxedema; pga - polyglandular autoimmune syndrome - type ii; pga ii; polyglandular autoimmune syndrome - type ii; polyglandular type ii autoimmune syndrome; primary hypothyroidism and adrenocortical insufficiency; schmidt syndrome; schmidt's syndrome; type 2 polyendocrine autoimmunity syndrome","Curated_Disease_Description_Source__c":"GARD:0007611","Curated_Disease_Description__c":"Autoimmune polyendocrinopathy type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands. It is characterized by the presence of Addison's disease along with autoimmune thyroid disease and/or type 1 diabetes. Affected individuals may also have problems with other endocrine glands and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyendocrinopathy type 2 is diagnosed in adulthood. The cause of Autoimmune polyendocrinopathy type 2 is unknown, although it may involve a combination of genetic and environmental factors. This condition occurs more often in women than men. Currently, there are no unique tests to detect Autoimmune polyendocrinopathy type 2, but testing for autoantibodies may be helpful in assessing disease risk, since the relevant autoantibodies (such as antibodies to thyroid peroxidase in autoimmune thyroid disease, or to glutamic acid decarboxylase in type 1 diabetes) are frequently detectable years before disease onset.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:3143","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010012","ORPHANET_ID__c":"ORPHA:3143","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poliendocrinopatía autoinmune tipo 2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"poliendocrinopatía autoinmune tipo 2","Spanish_GARD_Synonym__c":"aps tipo 2; aps2; enfermedad tiroidea autoinmune y/o diabetes tipo 1-enfermedad de addison; síndrome de schmidt; síndrome poliendocrino autoinmune tipo 2; síndrome poliglandular autoinmune tipo 2","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":"Autoimmune polyendocrinopathy type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands. It is characterized by the presence of Addison's disease along with autoimmune thyroid disease and/or type 1 diabetes. Affected individuals may also have problems with other endocrine glands and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyendocrinopathy type 2 is diagnosed in adulthood. The cause of Autoimmune polyendocrinopathy type 2 is unknown, although it may involve a combination of genetic and environmental factors. This condition occurs more often in women than men. Currently, there are no unique tests to detect Autoimmune polyendocrinopathy type 2, but testing for autoantibodies may be helpful in assessing disease risk, since the relevant autoantibodies (such as antibodies to thyroid peroxidase in autoimmune thyroid disease, or to glutamic acid decarboxylase in type 1 diabetes) are frequently detectable years before disease onset.","Curated_Disease_Description_Source__c":"GARD:0007611","GARD_Synonym__c":"addison's disease with struma lymphomatosa; aps ii; aps type 2; aps2; autoimmune polyendocrine syndrome type 2; autoimmune polyendocrine syndrome type ii; autoimmune polyendocrine syndrome, type ii; autoimmune polyendocrinopathy type 2; autoimmune polyglandular syndrome type 2; autoimmune thyroid disease and/or type 1 diabetes-addison disease syndrome; diabetes mellitus, addison disease, myxedema; diabetes mellitus, addison's disease and myxedema; pga - polyglandular autoimmune syndrome - type ii; pga ii; polyglandular autoimmune syndrome - type ii; polyglandular type ii autoimmune syndrome; primary hypothyroidism and adrenocortical insufficiency; schmidt syndrome; schmidt's syndrome; type 2 polyendocrine autoimmunity syndrome","Name":"Polyglandular autoimmune syndrome, type 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.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":"Juvenile Diabetes Research Foundation International","Website__c":"https://www.jdrf.org/"},{"Account_Name__c":"Pituitary Network Association","Website__c":"https://pituitary.org/"},{"Account_Name__c":"American Thyroid Association","Website__c":"https://www.thyroid.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.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"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:3143"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=39126","Source__c":"C0085860","Xref__c":"MEDGEN:39126"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=83728000","Source__c":"C0085860; MONDO:0010012","Xref__c":"83728000"},{"URL__c":"https://www.omim.org/entry/269200","Source__c":"C0085860; MONDO:0010012; ORPHA:3143","Xref__c":"OMIM:269200"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085860","Source__c":"C0085860","Xref__c":"C0085860"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129728","Source__c":"C0085860; MONDO:0010012","Xref__c":"C129728"},{"URL__c":"https://www.orpha.net/en/disease/detail/3143","Source__c":"C0085860; MONDO:0010012; ORPHA:3143","Xref__c":"ORPHA:3143"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050168","Source__c":"MONDO:0010012","Xref__c":"DOID:0050168"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010012","Source__c":"GARD:0007611","Xref__c":"MONDO:0010012"}],"Inheritance__c":["Non-Mendelian inheritance","Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3143","HPO_Frequency__c":"Very frequent (80-99%)","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:3143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased functionality of the gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000135","HPO_Synonym__c":"Decreased activity of gonads","HPO_Name__c":"Hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3143","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000820","HPO_Synonym__c":"Abnormality of the thyroid gland; Thyroid abnormality","HPO_Name__c":"Abnormality of the thyroid gland","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3143","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100647","HPO_Synonym__c":"Morbus Basedow","HPO_Name__c":"Graves disease","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3143","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:3143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000829","HPO_Synonym__c":"Decreased parathyroid hormone secretion; Low parathyroid hormone","HPO_Name__c":"Hypoparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality originating in one or more muscles, i.e., of the set of muscles of body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003011","HPO_Synonym__c":"Muscular abnormality","HPO_Name__c":"Abnormality of the musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3143","HPO_Frequency__c":"Very frequent (80-99%)","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; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3143","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008207","HPO_Synonym__c":"Adrenocortical insufficiency; Primary adrenocortical failure","HPO_Name__c":"Primary adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3143","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology"],"Account":["Infertility"]},"synonyms":["addison's disease with struma lymphomatosa"," aps ii"," aps type 2"," aps2"," autoimmune polyendocrine syndrome type 2"," autoimmune polyendocrine syndrome type ii"," autoimmune polyendocrine syndrome, type ii"," autoimmune polyendocrinopathy type 2"," autoimmune polyglandular syndrome type 2"," autoimmune thyroid disease and/or type 1 diabetes-addison disease syndrome"," diabetes mellitus, addison disease, myxedema"," diabetes mellitus, addison's disease and myxedema"," pga - polyglandular autoimmune syndrome - type ii"," pga ii"," polyglandular autoimmune syndrome - type ii"," polyglandular type ii autoimmune syndrome"," primary hypothyroidism and adrenocortical insufficiency"," schmidt syndrome"," schmidt's syndrome"," type 2 polyendocrine autoimmunity syndrome"],"spanishId":13507,"spanishName":"sindrome-poliglandular-autoinmune-tipo-2"}