{"Name":"Idiopathic pulmonary hemosiderosis","DiseaseID__c":"GARD:0006763","id":6763,"encodedName":"idiopathic-pulmonary-hemosiderosis","IsDeleted":false,"Disease_Name_Full__c":"Idiopathic pulmonary hemosiderosis","Xref_IDs__c":"40527005; C0020807; D012806; DOID:10328; DOID:12118; J84.03; MEDGEN:9403; MONDO:0008346; OMIM:178550; ORPHA:99931","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008346","Disease_Description__c":"Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.","GARD_Name__c":"Idiopathic pulmonary hemosiderosis","GARD_Synonym__c":"alveolar hypoventilation syndrome; brown induration; brown induration of lung; brown lung; iph - idiopathic pulmonary hemosiderosis; pulmonary hemosiderosis; pulmonary siderosis","Curated_Disease_Description_Source__c":"GARD:0006763","Curated_Disease_Description__c":"Idiopathic pulmonary hemosiderosis is a rare disease characterized by repeated episodes of bleeding into the lungs, which can cause anemia and lung disease. The body is able to remove most of the blood from the lungs, but a large amount of iron is left behind. Over time, this iron can cause permanent damage to the lungs (fibrosis). Symptoms can resemble pneumonia and include coughing, coughing up blood (hemoptysis), difficulty breathing, and wheezing. The cause of Idiopathic pulmonary hemosiderosis is unknown. Diagnosis is based on ruling out other kinds of pulmonary hemosiderosis, and tests may include imaging, laboratory tests, and a lung biopsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:99931","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008346","ORPHANET_ID__c":"ORPHA:99931","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemosiderosis pulmonar idiopática","Spanish_Description_Source__c":"ORPHA:99931","Spanish_Description__c":"La hemosiderosis pulmonar idiopática es una enfermedad respiratoria debida a episodios repetidos de hemorragia alveolar difusa sin una causa subyacente aparente, y afecta principalmente a niños. La mayoría de pacientes presenta anemia, tos e infiltrados pulmonares en radiografías torácicas.","Spanish_Disease_Name__c":"hemosiderosis pulmonar idiopática","Spanish_GARD_Synonym__c":null,"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 pulmonary hemosiderosis is a rare disease characterized by repeated episodes of bleeding into the lungs, which can cause anemia and lung disease. The body is able to remove most of the blood from the lungs, but a large amount of iron is left behind. Over time, this iron can cause permanent damage to the lungs (fibrosis). Symptoms can resemble pneumonia and include coughing, coughing up blood (hemoptysis), difficulty breathing, and wheezing. The cause of Idiopathic pulmonary hemosiderosis is unknown. Diagnosis is based on ruling out other kinds of pulmonary hemosiderosis, and tests may include imaging, laboratory tests, and a lung biopsy.","Curated_Disease_Description_Source__c":"GARD:0006763","GARD_Synonym__c":"alveolar hypoventilation syndrome; brown induration; brown induration of lung; brown lung; iph - idiopathic pulmonary hemosiderosis; pulmonary hemosiderosis; pulmonary siderosis","Name":"Idiopathic pulmonary hemosiderosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pulmonary Fibrosis Foundation","Website__c":"https://www.pulmonaryfibrosis.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99931"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9403","Source__c":"C0020807","Xref__c":"MEDGEN:9403"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020807","Source__c":"C0020807","Xref__c":"C0020807"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12118","Source__c":"MONDO:0008346","Xref__c":"DOID:12118"},{"URL__c":"https://www.orpha.net/en/disease/detail/99931","Source__c":"C0020807; MONDO:0008346; ORPHA:99931","Xref__c":"ORPHA:99931"},{"URL__c":"https://www.omim.org/entry/178550","Source__c":"C0020807; MONDO:0008346; ORPHA:99931","Xref__c":"OMIM:178550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012806","Source__c":"MONDO:0008346","Xref__c":"D012806"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A10328","Source__c":"MONDO:0008346","Xref__c":"DOID:10328"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=40527005","Source__c":"C0020807; MONDO:0008346","Xref__c":"40527005"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/J84.03","Source__c":"MONDO:0008346","Xref__c":"J84.03"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008346","Source__c":"GARD:0006763","Xref__c":"MONDO:0008346"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","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:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence in the serum of an autoantibody directed against the Fc portion of IgG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002923","HPO_Name__c":"Rheumatoid factor positive","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","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:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002105","HPO_Synonym__c":"Coughing up blood","HPO_Name__c":"Hemoptysis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","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:99931","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002113","HPO_Synonym__c":"Lung infiltrates; Pulmonic infiltration","HPO_Name__c":"Pulmonary infiltrates","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025420","HPO_Name__c":"Diffuse alveolar hemorrhage","Feature_System__c":"Cardiovascular System; Respiratory system; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","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:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the serum that react against nuclei or nuclear components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003493","HPO_Synonym__c":"Antinuclear antibodies; Antinuclear antibody positive; Elevated antinuclear antibody; Serum antinuclear antibody","HPO_Name__c":"Antinuclear antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypersensitivity in form of an adverse immune reaction against cow milk protein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100327","HPO_Synonym__c":"Cow milk allergy; IgE-mediated cow milk allergy; Immunoglobulin E-mediated cow milk allergy; Milk allergy","HPO_Name__c":"Cow milk allergy","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030148","HPO_Synonym__c":"Cardiac murmur; Cardiac murmurs; Heart murmur; Heart murmurs","HPO_Name__c":"Heart murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An allergy is an immune response or reaction to substances that are usually not harmful.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012393","HPO_Synonym__c":"Allergy","HPO_Name__c":"Allergy","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025390","HPO_Name__c":"Reticular pattern on pulmonary HRCT","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Frequent (30-79%)","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:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence in serum of antibodies against smooth muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003262","HPO_Synonym__c":"Anti-smooth muscle antibody positivity; Smooth muscle antibody positive; Smooth muscle antibody positivity","HPO_Name__c":"Anti-smooth muscle antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025392","HPO_Name__c":"Nodular pattern on pulmonary HRCT","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the renal glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000099","HPO_Synonym__c":"Glomerular nephritis","HPO_Name__c":"Glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the serum that react against neutrophils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003453","HPO_Synonym__c":"Antineutrophil antibodies; Neutrophil antibody positive","HPO_Name__c":"Antineutrophil antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025179","HPO_Synonym__c":"GGO; Ground glass opacities","HPO_Name__c":"Ground-glass opacification","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:99931","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Pediatrics"]},"synonyms":["alveolar hypoventilation syndrome"," brown induration"," brown induration of lung"," brown lung"," iph - idiopathic pulmonary hemosiderosis"," pulmonary hemosiderosis"," pulmonary siderosis"]}