{"Name":"Familial spontaneous pneumothorax","DiseaseID__c":"GARD:0004997","id":4997,"encodedName":"familial-spontaneous-pneumothorax","IsDeleted":false,"Disease_Name_Full__c":"Familial spontaneous pneumothorax","Xref_IDs__c":"715219001; C1868193; C566795; DOID:0080218; MEDGEN:357445; MONDO:0008259; OMIM:173600; ORPHA:2903","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008259","Disease_Description__c":"Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.","GARD_Name__c":"Familial spontaneous pneumothorax","GARD_Synonym__c":"primary spontaneous pneumothorax; psp","Curated_Disease_Description_Source__c":"GARD:0004997","Curated_Disease_Description__c":"Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath. Blebs may be present on an individual's lung (or lungs) for a long time before they rupture. Many things can cause a bleb to rupture, such as changes in air pressure or a very sudden deep breath. Often, people who experience a primary spontaneous pneumothorax have no prior sign of illness; the blebs themselves typically do not cause any symptoms and are visible only on medical imaging. Affected individuals may have one bleb to more than thirty blebs. Once a bleb ruptures and causes a pneumothorax, there is an estimated 13 to 60 percent chance that the condition will recur.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:2903","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008259","ORPHANET_ID__c":"ORPHA:2903","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neumotórax espontáneo familiar","Spanish_Description_Source__c":"ORPHA:2903","Spanish_Description__c":"Es una enfermedad pulmonar genética poco frecuente, caracterizada por la acumulación, uni- o bilateral, de aire en la cavidad pleural de personas con antecedentes familiares positivos y sin enfermedad pulmonar subyacente o trauma torácico previo. Por lo general, los afectados presentan disnea asociada con un intenso dolor torácico pleutírico constante, de inicio agudo y gravedad variable (que se resuelve en 24 h, aunque el neumotórax aún siga presente). Se puede observar taquicardia refleja y/o compromiso respiratorio o circulatorio. Pueden estar asociados otros síndromes, como por ejemplo, los síndromes de Birt-Hogg-Dube, Marfan o Ehlers-Danlos.","Spanish_Disease_Name__c":"neumotórax espontáneo familiar","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":"Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath. Blebs may be present on an individual's lung (or lungs) for a long time before they rupture. Many things can cause a bleb to rupture, such as changes in air pressure or a very sudden deep breath. Often, people who experience a primary spontaneous pneumothorax have no prior sign of illness; the blebs themselves typically do not cause any symptoms and are visible only on medical imaging. Affected individuals may have one bleb to more than thirty blebs. Once a bleb ruptures and causes a pneumothorax, there is an estimated 13 to 60 percent chance that the condition will recur.","Curated_Disease_Description_Source__c":"GARD:0004997","GARD_Synonym__c":"primary spontaneous pneumothorax; psp","Name":"Familial spontaneous pneumothorax","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"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":"Adolescent","Provided_By__c":"ORPHA:2903"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2903"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1868193"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004997","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080218","Source__c":"MONDO:0008259","Xref__c":"DOID:0080218"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715219001","Source__c":"MONDO:0008259","Xref__c":"715219001"},{"URL__c":"https://www.omim.org/entry/173600","Source__c":"C1868193; MONDO:0008259; ORPHA:2903","Xref__c":"OMIM:173600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357445","Source__c":"C1868193","Xref__c":"MEDGEN:357445"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566795","Source__c":"MONDO:0008259","Xref__c":"C566795"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868193","Source__c":"C1868193","Xref__c":"C1868193"},{"URL__c":"https://www.orpha.net/en/disease/detail/2903","Source__c":"C1868193; MONDO:0008259","Xref__c":"ORPHA:2903"},{"URL__c":"https://medlineplus.gov/genetics/condition/primary-spontaneous-pneumothorax","Source__c":"GARD:0004997","Xref__c":"https://medlineplus.gov/genetics/condition/primary-spontaneous-pneumothorax"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008259","Source__c":"GARD:0004997","Xref__c":"MONDO:0008259"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1366433008","Source__c":"C1868193","Xref__c":"1366433008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FLCN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/flcn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2903","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002086","HPO_Synonym__c":"Respiratory abnormality","HPO_Name__c":"Abnormality of the respiratory system","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2903","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002107","HPO_Synonym__c":"Collapsed lung","HPO_Name__c":"Pneumothorax","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2903","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002103","HPO_Synonym__c":"Abnormality of the pleura","HPO_Name__c":"Abnormal pleura morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["primary spontaneous pneumothorax"," psp"]}