{"Name":"Idiopathic chronic eosinophilic pneumonia","DiseaseID__c":"GARD:0001130","id":1130,"encodedName":"idiopathic-chronic-eosinophilic-pneumonia","IsDeleted":false,"Disease_Name_Full__c":"Idiopathic chronic eosinophilic pneumonia","Xref_IDs__c":"C2930941; C535590; MEDGEN:443938; MONDO:0017363; ORPHA:2902","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017363","Disease_Description__c":"A rare, severe, interstitial lung disease characterized by insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss) and a history of asthma (up to half of patients). Eosinophilia is present in most cases, usually in excess of 1000 cells/mm3.","GARD_Name__c":"Idiopathic chronic eosinophilic pneumonia","GARD_Synonym__c":"idiopathic chronic eosinophilic pneumonitis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Idiopathic chronic eosinophilic pneumonia is a rare and serious lung disease. It starts slowly and can cause breathing problems, coughing, and wheezing. People with this condition may also feel tired, lose weight, and have a general feeling of being unwell. People with a history of asthma may be more likely to develop this disease. Most people with this disease have too many eosinophils, a type of white blood cell, in their blood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2902","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017363","ORPHANET_ID__c":"ORPHA:2902","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neumonía eosinofílica crónica idiopática","Spanish_Description_Source__c":"ORPHA:2902","Spanish_Description__c":"Es una enfermedad pulmonar intersticial grave y poco frecuente caracterizada por un inicio insidioso con manifestaciones respiratorias subagudas o crónicas inespecíficas (disnea, tos, sibilancias) a menudo asociadas a manifestaciones sistémicas (cansancio, malestar, pérdida de peso) y a antecedentes de asma (hasta el 50% de los pacientes). La eosinofilia está presente en la mayoría de los casos, normalmente por encima de 1000 células/mm3.","Spanish_Disease_Name__c":"neumonía eosinofílica crónica idiopática","Spanish_GARD_Synonym__c":"neci; síndrome de carrington","Category_Linearization__c":"ORPHA:97955","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":"Idiopathic chronic eosinophilic pneumonia is a rare and serious lung disease. It starts slowly and can cause breathing problems, coughing, and wheezing. People with this condition may also feel tired, lose weight, and have a general feeling of being unwell. People with a history of asthma may be more likely to develop this disease. Most people with this disease have too many eosinophils, a type of white blood cell, in their blood.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"idiopathic chronic eosinophilic pneumonitis","Name":"Idiopathic chronic eosinophilic pneumonia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Allergy & Asthma Network Mothers of Asthmatics","Website__c":"https://allergyasthmanetwork.org/"},{"Account_Name__c":"Children's Interstitial Lung Disease Foundation","Website__c":"https://child-foundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2902"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2930941","Source__c":"C2930941","Xref__c":"C2930941"},{"URL__c":"https://www.orpha.net/en/disease/detail/2902","Source__c":"C2930941; MONDO:0017363; ORPHA:2902","Xref__c":"ORPHA:2902"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=443938","Source__c":"C2930941","Xref__c":"MEDGEN:443938"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535590","Source__c":"MONDO:0017363","Xref__c":"C535590"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017363","Source__c":"GARD:0001130","Xref__c":"MONDO:0017363"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724500003","Source__c":"C2930941","Xref__c":"724500003"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A high-pitched whistling sound associated with labored breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030828","HPO_Synonym__c":"Wheezing","HPO_Name__c":"Wheezing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe increase in circulating eosinophils, usually characterized as more than 1500 eosinophils per microlitre.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032061","HPO_Synonym__c":"Hypereosinophilia","HPO_Name__c":"Severely increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","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:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003565","HPO_Synonym__c":"Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR; Increased erythrocyte sedimentation rate; Raised erythrocyte sedimentation rate","HPO_Name__c":"Elevated erythrocyte sedimentation rate","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally low level of blood oxygen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012418","HPO_Synonym__c":"Low blood oxygen level","HPO_Name__c":"Hypoxemia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031983","HPO_Synonym__c":"Abnormal chest radiograph finding (lung)","HPO_Name__c":"Abnormal pulmonary thoracic imaging finding","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Collapse of part of a lung associated with absence of inflation (air) of that part.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100750","HPO_Synonym__c":"Partial or complete collapse of part or entire lung; Pulmonary atelectasis","HPO_Name__c":"Atelectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001047","HPO_Synonym__c":"Allergic eczema; Atopic dermatitis, chronic; Atopic eczema; Dermatitis, Atopic; Infantile eczema; Neurodermatitis; Prurigo Besnier","HPO_Name__c":"Atopic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025406","HPO_Synonym__c":"Lack of energy and strength; Weakness","HPO_Name__c":"Asthenia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011024","HPO_Synonym__c":"Abnormality of the gastrointestinal tract; Abnormality of the GI tract","HPO_Name__c":"Abnormality of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032177","HPO_Name__c":"Parenchymal consolidation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030830","HPO_Synonym__c":"Crepitations; Rales","HPO_Name__c":"Crackles","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006516","HPO_Name__c":"Hypersensitivity pneumonitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased proportion of eosinophils in sputum in the differentiated cell count.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032017","HPO_Name__c":"Sputum eosinophilia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Occurrence of excessive sweating during sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030166","HPO_Synonym__c":"Night sweats; Nocturnal hyperhidrosis","HPO_Name__c":"Night sweats","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cough that does not produce phlegm or mucus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031246","HPO_Synonym__c":"Dry cough; Dry coughing","HPO_Name__c":"Nonproductive cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin that is not localized to any one particular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011354","HPO_Synonym__c":"Generalised abnormality of skin; Generalized abnormality of skin","HPO_Name__c":"Generalized abnormality of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Immunology","Pediatrics"]},"synonyms":["idiopathic chronic eosinophilic pneumonitis"]}