{"Name":"Surfactant metabolism dysfunction, pulmonary, 1","DiseaseID__c":"GARD:0017126","id":17126,"encodedName":"surfactant-metabolism-dysfunction-pulmonary-1","IsDeleted":false,"Disease_Name_Full__c":"Surfactant metabolism dysfunction, pulmonary, 1","Xref_IDs__c":"C1968602; C566882; C99068; MEDGEN:368844; MONDO:0009929; OMIM:265120; ORPHA:217563","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:217563","Disease_Description__c":"A rare genetic interstitial lung disease characterized by progressive, life-threatening, refractory respiratory distress in full-term neonates associated with surfactant protein B deficiency. In most cases, the disease is fatal within the first months of life. Lung biopsy reveals changes characteristic of pulmonary alveolar proteinosis with interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.","GARD_Name__c":"Surfactant metabolism dysfunction, pulmonary, 1","GARD_Synonym__c":"interstitial lung disease due to sp-b dysfunction; interstitial lung disease due to surfactant protein b deficiency; interstitial lung disease, nonspecific, due to surfactant protein b deficiency; neonatal acute respiratory distress due to sp-b deficiency; neonatal acute respiratory distress due to surfactant protein b deficiency; pulmonary alveolar proteinosis, congenital, 1; pulmonary surfactant protein b, deficiency of; smdp1; surfactant metabolism dysfunction, pulmonary, type 1","Curated_Disease_Description_Source__c":"ORPHA:217563","Curated_Disease_Description__c":"A rare genetic interstitial lung disease characterized by progressive and life-threatening refractory respiratory distress caused by surfactant deficiency which is particularly prevalent in immature lungs. It is primarily observed in preterm infants but can also affect full-term neonates. In most cases, it is fatal within the first months of life. Lung biopsy reveals changes that are characteristic of pulmonary alveolar proteinosis including interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:217563","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009929","ORPHANET_ID__c":"ORPHA:217563","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de dificultad respiratoria aguda neonatal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de dificultad respiratoria aguda neonatal","Spanish_GARD_Synonym__c":"dificultad respiratoria aguda neonatal por deficiencia de proteína surfactante; enfermedad de la membrana hialina; sdr neonatal; síndrome de distrés respiratorio agudo neonatal","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":"A rare genetic interstitial lung disease characterized by progressive and life-threatening refractory respiratory distress caused by surfactant deficiency which is particularly prevalent in immature lungs. It is primarily observed in preterm infants but can also affect full-term neonates. In most cases, it is fatal within the first months of life. Lung biopsy reveals changes that are characteristic of pulmonary alveolar proteinosis including interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.","Curated_Disease_Description_Source__c":"ORPHA:217563","GARD_Synonym__c":"interstitial lung disease due to sp-b dysfunction; interstitial lung disease due to surfactant protein b deficiency; interstitial lung disease, nonspecific, due to surfactant protein b deficiency; neonatal acute respiratory distress due to sp-b deficiency; neonatal acute respiratory distress due to surfactant protein b deficiency; pulmonary alveolar proteinosis, congenital, 1; pulmonary surfactant protein b, deficiency of; smdp1; surfactant metabolism dysfunction, pulmonary, type 1","Name":"Surfactant metabolism dysfunction, pulmonary, 1","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Interstitial Lung Disease Foundation","Website__c":"https://child-foundation.org/"}],"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":"Neonatal","Provided_By__c":"ORPHA:217563"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/265120","Source__c":"C1968602; MONDO:0009929","Xref__c":"OMIM:265120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566882","Source__c":"MONDO:0009929","Xref__c":"C566882"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=368844","Source__c":"C1968602","Xref__c":"MEDGEN:368844"},{"URL__c":"https://www.orpha.net/en/disease/detail/217563","Source__c":"C1968602; MONDO:0009929; ORPHA:217563","Xref__c":"ORPHA:217563"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1968602","Source__c":"C1968602","Xref__c":"C1968602"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009929","Source__c":"GARD:0017126","Xref__c":"MONDO:0009929"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99068","Source__c":"C1968602","Xref__c":"C99068"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SFTPB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sftpb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:217563","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031457","HPO_Name__c":"Pulmonary opacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:217563","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:217563","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pneumothorax occurring neonatally without traumatic injury to the chest or lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004876","HPO_Synonym__c":"Neonatal pneumothorax","HPO_Name__c":"Spontaneous neonatal pneumothorax","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006530","HPO_Synonym__c":"Abnormal lung parenchyma morphology; Abnormality in area between air sacs in lung; Interstitial lung disease; Interstitial pulmonary disease","HPO_Name__c":"Abnormal pulmonary interstitial morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217563","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001667","HPO_Synonym__c":"Heart right ventricle hypertrophy","HPO_Name__c":"Right ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217563","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:217563","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006517","HPO_Synonym__c":"Alveolar proteinosis; Detection of PAS-positive extracellular material in broncho-alveolar lavage; Pulmonary alveolar proteinosis","HPO_Name__c":"Intraalveolar phospholipid accumulation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217563","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006528","HPO_Synonym__c":"Chronic lung disease","HPO_Name__c":"Chronic lung disease","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["interstitial lung disease due to sp-b dysfunction"," interstitial lung disease due to surfactant protein b deficiency"," interstitial lung disease, nonspecific, due to surfactant protein b deficiency"," neonatal acute respiratory distress due to sp-b deficiency"," neonatal acute respiratory distress due to surfactant protein b deficiency"," pulmonary alveolar proteinosis, congenital, 1"," pulmonary surfactant protein b, deficiency of"," smdp1"," surfactant metabolism dysfunction, pulmonary, type 1"]}