{"Name":"Primary pulmonary hypoplasia","DiseaseID__c":"GARD:0016591","id":16591,"encodedName":"primary-pulmonary-hypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Primary pulmonary hypoplasia","Xref_IDs__c":"277656005; C0456891; MEDGEN:141589; MONDO:0009936; OMIM:265430; ORPHA:2257","USA_Estimate__c":null,"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":null,"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:0009936","Disease_Description__c":"Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.","GARD_Name__c":"Primary pulmonary hypoplasia","GARD_Synonym__c":"familial primary pulmonary hypoplasia; idiopathic pulmonary hypoplasia","Curated_Disease_Description_Source__c":"MONDO:0009936","Curated_Disease_Description__c":"Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2257","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009936","ORPHANET_ID__c":"ORPHA:2257","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia pulmonar primaria","Spanish_Description_Source__c":"ORPHA:2257","Spanish_Description__c":"Es un defecto genético, aislado y poco frecuente del desarrollo durante la embriogénesis, caracterizada por la malformación congénita del parénquima pulmonar en ausencia de otras anomalías. Al nacimiento, los afectados presentan disminución de ruidos respiratorios, volumen pulmonar pequeño y grave distress respiratorio que no responde a tratamientos agresivos (incluida la instilación de surfactante/soporte respiratorio mecánico). Por lo general, no es compatible con la vida.","Spanish_Disease_Name__c":"hipoplasia pulmonar primaria","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.","Curated_Disease_Description_Source__c":"MONDO:0009936","GARD_Synonym__c":"familial primary pulmonary hypoplasia; idiopathic pulmonary hypoplasia","Name":"Primary pulmonary hypoplasia","estimateUsa":""}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2257"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2257","Source__c":"C0456891; MONDO:0009936; ORPHA:2257","Xref__c":"ORPHA:2257"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=277656005","Source__c":"C0456891; MONDO:0009936","Xref__c":"277656005"},{"URL__c":"https://www.omim.org/entry/265430","Source__c":"C0456891; MONDO:0009936; ORPHA:2257","Xref__c":"OMIM:265430"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0456891","Source__c":"C0456891","Xref__c":"C0456891"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=141589","Source__c":"C0456891","Xref__c":"MEDGEN:141589"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009936","Source__c":"GARD:0016591","Xref__c":"MONDO:0009936"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The concentration of surfactant protein in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032094","HPO_Synonym__c":"Increased serum surfactant protein level","HPO_Name__c":"Elevated circulating surfactant protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2257","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:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomalous (adventitious) sound produced by the breathing process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030829","HPO_Synonym__c":"Abnormal lung auscultation finding","HPO_Name__c":"Abnormal breath sound","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Uncommon (<1-4%)","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:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040045","HPO_Synonym__c":"Abnormality of the hemidiaphragms","HPO_Name__c":"Abnormal hemidiaphragm morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Frequent (30-79%)","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:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002778","HPO_Synonym__c":"Abnormal trachea morphology; Abnormality of the trachea","HPO_Name__c":"Abnormal tracheal morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","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:2257","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","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:2257","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a stenotic, i.e., constricted ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000071","HPO_Synonym__c":"Narrowing of the ureter; Ureteric stenosis","HPO_Name__c":"Ureteral stenosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \\\"mirror reflection\\\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001651","HPO_Synonym__c":"Heart tip and four chambers point towards right side of body; Thoracic situs inversus","HPO_Name__c":"Dextrocardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003065","HPO_Synonym__c":"Hypoplastic patellae; Small kneecap; Small patella; Small patellae; Underdeveloped kneecap","HPO_Name__c":"Patellar hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001684","HPO_Synonym__c":"Atrial septal defect, ostium secundum type; Ostium secundum atrial septal defect; Patent ostium secundum","HPO_Name__c":"Secundum atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the structure of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030966","HPO_Name__c":"Abnormal pulmonary artery morphology","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2257","HPO_Frequency__c":"Uncommon (<1-4%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["familial primary pulmonary hypoplasia"," idiopathic pulmonary hypoplasia"]}