{"Name":"Polyglandular autoimmune syndrome, type 1","DiseaseID__c":"GARD:0008466","id":8466,"encodedName":"polyglandular-autoimmune-syndrome-type-1","IsDeleted":false,"Disease_Name_Full__c":"Polyglandular autoimmune syndrome, type 1","Xref_IDs__c":"11244009; C0085859; C129727; DOID:0050167; MEDGEN:39125; MONDO:0009411; OMIM:240300; ORPHA:3453","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":9,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009411","Disease_Description__c":"A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.","GARD_Name__c":"Polyglandular autoimmune syndrome, type 1","GARD_Synonym__c":"aire autoimmune polyendocrinopathy; apeced - autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; apeced syndrome; aps i; aps type 1; aps1; autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome; autoimmune polyendocrine syndrome type 1; autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia; autoimmune polyendocrinopathy caused by mutation in aire; autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia; autoimmune polyendocrinopathy syndrome type 1; autoimmune polyendocrinopathy syndrome, type i; autoimmune polyendocrinopathy type 1; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy; autoimmune polyglandular syndrome i; autoimmune polyglandular syndrome type 1; candidiasis-endocrinopathy syndrome; ham syndrome; hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; hypoadrenocorticism, hypoparathyroidism and superficial moniliasis; hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome; hypoparathyroidism, addison's disease and moniliasis; juvenile familial endocrinopathy; medac syndrome; multiple endocrine deficiency-addison disease-candidiasis syndrome; pga i; polyglandular autoimmune syndrome - type 1; polyglandular autoimmune syndrome type 1; polyglandular deficiency associated with mucocutaneous candidiasis; type 1 polyendocrine autoimmunity syndrome; whitaker syndrom; whitaker syndrome","Curated_Disease_Description_Source__c":"GARD:0008466","Curated_Disease_Description__c":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's own tissues and organs by mistake. In most cases, the signs and symptoms of APECED begin in childhood or adolescence. This condition commonly involves three characteristic features: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal gland insufficiency.  Affected individuals typically have at least two of these features, and many have all three. CMC is a tendency to develop infections of the skin, the nails, and the moist lining of body cavities (mucous membranes) caused by a type of fungus called Candida. These infections, which are commonly known as yeast infections, are chronic, which means they recur and can last a long time. CMC is usually the first of the three characteristic features of APECED to become apparent in people with this disorder. Almost all affected individuals develop infections of the oral cavity (known as thrush). Infections of the tube that carries food from the mouth to the stomach (the esophagus) are also common, while the skin and nails are affected less often. In women, vaginal infections frequently occur. Other features of APECED result from the body's immune system attacking the network of hormone-producing glands (the endocrine system). The second characteristic feature of the disorder is hypoparathyroidism, which is a malfunction of the parathyroid glands.  These glands secrete a hormone that regulates the body's use of calcium and phosphorus. Damage to the parathyroid glands leads to reduced parathyroid hormone production (hypoparathyroidism). Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. Serious effects of hypoparathyroidism, such spasms of the voicebox (larynx) leading to breathing problems and seizures, can be life-threatening. Damage to the small hormone-producing glands on top of each kidney (adrenal glands) results in a third major feature of APECED, adrenal gland insufficiency (autoimmune Addison disease). Reduced hormone production by the adrenal glands leads to signs and symptoms that can include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. Other endocrine problems that can occur in APECED include type 1 diabetes resulting from impaired production of the hormone insulin; a shortage of growth hormone leading to short stature; problems affecting the internal reproductive organs (ovaries or testes) that can cause inability to conceive children (infertility); and dysfunction of the thyroid gland (a butterfly-shaped tissue in the lower neck), which can result in many symptoms including weight gain and fatigue. Autoimmune problems affecting non-endocrine tissues can lead to a variety of additional signs and symptoms in people with APECED. These features occur more often in North American populations than in European populations. Rashes that resemble hives (urticarial eruptions) are common and often occur in infancy and early childhood. Other early signs and symptoms may include thin enamel on the teeth (enamel hypoplasia) and chronic diarrhea or constipation associated with difficulty in absorbing nutrients from food. Additional features that occur in people with APECED, many of which can lead to permanent organ and tissue damage if left untreated, include stomach irritation (gastritis), liver inflammation (hepatitis), lung irritation (pneumonitis), dry mouth and dry eyes (Sjogren-like syndrome), inflammation of the eyes (keratitis), kidney problems (nephritis), vitamin B12 deficiency, hair loss (alopecia), loss of skin color in blotches (vitiligo), high blood pressure (hypertension), or a small (atrophic) or absent spleen (asplenia).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:3453","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009411","ORPHANET_ID__c":"ORPHA:3453","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poliendocrinopatía autoinmune tipo 1","Spanish_Description_Source__c":"ORPHA:3453","Spanish_Description__c":"Es una enfermedad de origen genético poco frecuente que se manifiesta durante la infancia o la adolescencia temprana, con una combinación de candidiasis crónica mucocutánea, hipoparatiroidismo e insuficiencia suprarrenal autoinmune.","Spanish_Disease_Name__c":"poliendocrinopatía autoinmune tipo 1","Spanish_GARD_Synonym__c":"aps tipo 1; aps1; síndrome apeced; síndrome de deficiencia endocrina múltiple-enfermedad de addison-candidiasis; síndrome de hipoparatiroidismo autoinmune-candidiasis crónica-enfermedad de addison; síndrome de hipoparatiroidismo-enfermedad de addison-candidiasis mucocutánea; síndrome de poliendocrinopatía autoinmune-candidiasis-distrofia ectodérmica; síndrome ham; síndrome medac; síndrome poliendocrino autoinmune tipo 1; síndrome poliglandular autoinmune tipo 1","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-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's own tissues and organs by mistake. In most cases, the signs and symptoms of APECED begin in childhood or adolescence. This condition commonly involves three characteristic features: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal gland insufficiency.  Affected individuals typically have at least two of these features, and many have all three. CMC is a tendency to develop infections of the skin, the nails, and the moist lining of body cavities (mucous membranes) caused by a type of fungus called Candida. These infections, which are commonly known as yeast infections, are chronic, which means they recur and can last a long time. CMC is usually the first of the three characteristic features of APECED to become apparent in people with this disorder. Almost all affected individuals develop infections of the oral cavity (known as thrush). Infections of the tube that carries food from the mouth to the stomach (the esophagus) are also common, while the skin and nails are affected less often. In women, vaginal infections frequently occur. Other features of APECED result from the body's immune system attacking the network of hormone-producing glands (the endocrine system). The second characteristic feature of the disorder is hypoparathyroidism, which is a malfunction of the parathyroid glands.  These glands secrete a hormone that regulates the body's use of calcium and phosphorus. Damage to the parathyroid glands leads to reduced parathyroid hormone production (hypoparathyroidism). Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. Serious effects of hypoparathyroidism, such spasms of the voicebox (larynx) leading to breathing problems and seizures, can be life-threatening. Damage to the small hormone-producing glands on top of each kidney (adrenal glands) results in a third major feature of APECED, adrenal gland insufficiency (autoimmune Addison disease). Reduced hormone production by the adrenal glands leads to signs and symptoms that can include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. Other endocrine problems that can occur in APECED include type 1 diabetes resulting from impaired production of the hormone insulin; a shortage of growth hormone leading to short stature; problems affecting the internal reproductive organs (ovaries or testes) that can cause inability to conceive children (infertility); and dysfunction of the thyroid gland (a butterfly-shaped tissue in the lower neck), which can result in many symptoms including weight gain and fatigue. Autoimmune problems affecting non-endocrine tissues can lead to a variety of additional signs and symptoms in people with APECED. These features occur more often in North American populations than in European populations. Rashes that resemble hives (urticarial eruptions) are common and often occur in infancy and early childhood. Other early signs and symptoms may include thin enamel on the teeth (enamel hypoplasia) and chronic diarrhea or constipation associated with difficulty in absorbing nutrients from food. Additional features that occur in people with APECED, many of which can lead to permanent organ and tissue damage if left untreated, include stomach irritation (gastritis), liver inflammation (hepatitis), lung irritation (pneumonitis), dry mouth and dry eyes (Sjogren-like syndrome), inflammation of the eyes (keratitis), kidney problems (nephritis), vitamin B12 deficiency, hair loss (alopecia), loss of skin color in blotches (vitiligo), high blood pressure (hypertension), or a small (atrophic) or absent spleen (asplenia).","Curated_Disease_Description_Source__c":"GARD:0008466","GARD_Synonym__c":"aire autoimmune polyendocrinopathy; apeced - autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; apeced syndrome; aps i; aps type 1; aps1; autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome; autoimmune polyendocrine syndrome type 1; autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia; autoimmune polyendocrinopathy caused by mutation in aire; autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia; autoimmune polyendocrinopathy syndrome type 1; autoimmune polyendocrinopathy syndrome, type i; autoimmune polyendocrinopathy type 1; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy; autoimmune polyglandular syndrome i; autoimmune polyglandular syndrome type 1; candidiasis-endocrinopathy syndrome; ham syndrome; hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; hypoadrenocorticism, hypoparathyroidism and superficial moniliasis; hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome; hypoparathyroidism, addison's disease and moniliasis; juvenile familial endocrinopathy; medac syndrome; multiple endocrine deficiency-addison disease-candidiasis syndrome; pga i; polyglandular autoimmune syndrome - type 1; polyglandular autoimmune syndrome type 1; polyglandular deficiency associated with mucocutaneous candidiasis; type 1 polyendocrine autoimmunity syndrome; whitaker syndrom; whitaker syndrome","Name":"Polyglandular autoimmune syndrome, type 1","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.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":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"Parathyroid UK","Website__c":"https://parathyroiduk.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":"APS Type 1 Foundation","Website__c":"https://apstype1.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:3453"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3453"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0085859"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008466","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050167","Source__c":"MONDO:0009411","Xref__c":"DOID:0050167"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=11244009","Source__c":"C0085859; MONDO:0009411","Xref__c":"11244009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=39125","Source__c":"C0085859","Xref__c":"MEDGEN:39125"},{"URL__c":"https://www.orpha.net/en/disease/detail/3453","Source__c":"C0085859; MONDO:0009411; ORPHA:3453","Xref__c":"ORPHA:3453"},{"URL__c":"https://www.omim.org/entry/240300","Source__c":"C0085859; MONDO:0009411; ORPHA:3453","Xref__c":"OMIM:240300"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085859","Source__c":"C0085859","Xref__c":"C0085859"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129727","Source__c":"C0085859; MONDO:0009411","Xref__c":"C129727"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009411","Source__c":"GARD:0008466","Xref__c":"MONDO:0009411"},{"URL__c":"https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy","Source__c":"GARD:0008466","Xref__c":"https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AIRE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aire","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100530","HPO_Synonym__c":"Abnormal Ca-PHOS regulating hormone level; Abnormal Ca2+ PO4 regulating hormone level","HPO_Name__c":"Abnormal circulating calcium-phosphate regulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034055","HPO_Synonym__c":"Anti-P450scc","HPO_Name__c":"Anti-side-chain cleavage enzyme antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","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:3453","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002728","HPO_Synonym__c":"Chronic candidiasis of mucosa, skin and nails; Mucocutaneous candidiasis","HPO_Name__c":"Chronic mucocutaneous candidiasis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003118","HPO_Synonym__c":"Cushing syndrome; Hypercortisolism; Increased circulating cortisol level; Increased cortisol production","HPO_Name__c":"Increased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034071","HPO_Synonym__c":"Anti-P450c21","HPO_Name__c":"Anti-21-hydroxylase antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the cerebral blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100659","HPO_Synonym__c":"Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature","HPO_Name__c":"Abnormal cerebral vascular morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","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:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement of the adrenal gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008221","HPO_Synonym__c":"Enlarged adrenal glands","HPO_Name__c":"Adrenal hyperplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","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:3453","HPO_Frequency__c":"Very frequent (80-99%)","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:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007759","HPO_Synonym__c":"Cloudy cornea; Corneal stromal opacity","HPO_Name__c":"Opacification of the corneal stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","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:3453","HPO_Frequency__c":"Very frequent (80-99%)","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:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006515","HPO_Name__c":"Interstitial pneumonitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","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:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; 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Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. 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:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence (aplasia) of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001746","HPO_Synonym__c":"Absent spleen","HPO_Name__c":"Asplenia","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008720","HPO_Name__c":"Primary testicular failure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100502","HPO_Synonym__c":"Vitamin B12 deficiency","HPO_Name__c":"Decreased circulating vitamin B12 concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3453","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; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002582","HPO_Synonym__c":"Chronic atrophic gastritis","HPO_Name__c":"Atrophic gastritis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of one or all portions of the uveal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000554","HPO_Name__c":"Uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation affecting the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000123","HPO_Synonym__c":"Kidney inflammation","HPO_Name__c":"Nephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Frequent (30-79%)","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:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea and conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001096","HPO_Name__c":"Keratoconjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","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:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000968","HPO_Name__c":"Ectodermal dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012804","HPO_Synonym__c":"Corneal ulcer; Corneal ulcerations","HPO_Name__c":"Corneal ulceration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3453","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Ophthalmology","Immunology","Endocrine","Gastroenterology","Obstetrics / Gynecology","Anterior segment of Eye","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Gastroenterology","Urogenital Disorders"],"Account":["Primary Immune Deficiencies","Infertility"]},"synonyms":["aire autoimmune polyendocrinopathy"," apeced - autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy"," apeced syndrome"," aps i"," aps type 1"," aps1"," autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome"," autoimmune polyendocrine syndrome type 1"," autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia"," autoimmune polyendocrinopathy caused by mutation in aire"," autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia"," autoimmune polyendocrinopathy syndrome type 1"," autoimmune polyendocrinopathy syndrome, type i"," autoimmune polyendocrinopathy type 1"," autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy"," autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome"," autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy"," autoimmune polyglandular syndrome i"," autoimmune polyglandular syndrome type 1"," candidiasis-endocrinopathy syndrome"," ham syndrome"," hypoadrenocorticism with hypoparathyroidism and superficial moniliasis"," hypoadrenocorticism, hypoparathyroidism and superficial moniliasis"," hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome"," hypoparathyroidism, addison's disease and moniliasis"," juvenile familial endocrinopathy"," medac syndrome"," multiple endocrine deficiency-addison disease-candidiasis syndrome"," pga i"," polyglandular autoimmune syndrome - type 1"," polyglandular autoimmune syndrome type 1"," polyglandular deficiency associated with mucocutaneous candidiasis"," type 1 polyendocrine autoimmunity syndrome"," whitaker syndrom"," whitaker syndrome"],"spanishId":13506,"spanishName":"sindrome-poliglandular-autoinmune-tipo-1"}