{"orpha":244,"name":"Primary ciliary dyskinesia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PCD"],"definition":"A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-244/","orphanet_url":"https://www.orpha.net/en/disease/detail/244","names":{"fr":{"name":"Dyskinésie ciliaire primitive","synonyms":["DCP"],"definition":"Maladie rare, génétiquement hétérogène, principalement respiratoire, caractérisée par une maladie chronique des voies respiratoires supérieures et inférieures. Environ la moitié des patients présentent une anomalie de latéralité des organes (situs inversus total ou situs ambiguus/hétérotaxie)."},"de":{"name":"Zilien-Dyskinesie, primäre","synonyms":["PCD","Primäre ziliäre Dyskinesie","Syndrom der immotilen Zilien"],"definition":"Eine seltene, genetisch heterogene, primär respiratorische Erkrankung, die durch eine chronische Erkrankung der oberen und unteren Atemwege gekennzeichnet ist. Etwa die Hälfte der Patienten weist einen Lateralisationsdefekt der Organe auf (Situs inversus totalis oder Situs ambiguus/Heterotaxie)."},"es":{"name":"Discinesia ciliar primaria","definition":"Es un trastorno fundamentalmente respiratorio, poco frecuente y genéticamente heterogéneo, caracterizado por una enfermedad crónica del tracto respiratorio superior e inferior. Aproximadamente la mitad de los pacientes con DCP presenta un defecto de lateralidad orgánica (<i>situs inversus totalis</i> o <i>situs ambiguus</i>/ heterotaxia)."},"it":{"name":"Discinesia ciliare primitiva","synonyms":["PCD"],"definition":"La discinesia ciliare primitiva (PCD) è una malattia respiratoria primitiva rara, eterogenea dal punto di vista genetico, caratterizzata dall'interessamento cronico delle vie aeree superiori e inferiori. Circa la metà dei pazienti presenta un'anomalia della lateralità di un organo (situs inverso totale o situs ambiguus/eterotassia)."},"nl":{"name":"Primaire ciliaire dyskinesie","synonyms":["PCD"],"definition":"Een zeldzame, genetisch heterogene, voornamelijk respiratoire aandoening, gekarakteriseerd door chronische ziekte van bovenste en onderste luchtwegen. Ongeveer de helft van de patiënten vertoont een defecte lateralisatie van een orgaan (situs inversus totalis of situs ambiguus/heterotaxie)."},"pt":{"name":"Discinesia ciliar primária","definition":"A discinesia ciliar primária (PCD) é uma doença respiratória rara caracterizada por broncorreia crónica com bronquiectasias e sinusite crónica."},"pl":{"name":"Pierwotna dyskinezja rzęsek","synonyms":["PCD"],"definition":"Pierwotna dyskineza rzęsek (PCD – primary ciliary dyskinesia) to rzadkie, genetycznie heterogenne, pierwotne zaburzenie układu oddechowego charakteryzujące się przewlekłą chorobą górnych i dolnych dróg oddechowych. U około połowy pacjentów występuje nieprawidłowe ułożenie narządów (całkowite odwrócenie trzewi lub niecałkowite odwrócenie trzewi/heterotaksja; sprawdź te terminy)."},"cs":{"name":"Primární ciliární dyskineze","synonyms":["PCD"],"definition":"Primární ciliární dyskineze (PCD) je vzácné, geneticky heterogenní, zejména respirační onemocnění charakterizované chronickým onemocněním horních a dolních cest dýchacích způsobené poruchou funkce řasinek (latinsky cilia). U přibližně poloviny pacientů s PCD se navíc vyskytují poruchy laterality (stranová orientace či umístění) vnitřních orgánů."},"uk":{"name":"Первинна циліарна дискінезія","synonyms":["PCD"],"definition":"A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)."},"zh":{"name":"原发性纤毛运动障碍","synonyms":["PCD"]},"tr":{"name":"Primer siliyer 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CD-10","code":"Q34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA75.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1713839459"},{"source":"MONDO","code":"0016575","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551720","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4484","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069713","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred 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in","status":"Assessed","source":"26073779[PMID]","hgnc":"21054","ensembl":"ENSG00000130363","omim":"615876","loci":["6q25.3"]},{"symbol":"RSPH4A","name":"radial spoke head component 4A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301301[PMID]","hgnc":"21558","ensembl":"ENSG00000111834","omim":"612647","loci":["6q22.1"]},{"symbol":"RSPH9","name":"radial spoke head component 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301301[PMID]","hgnc":"21057","ensembl":"ENSG00000172426","omim":"612648","loci":["6p21.1"]},{"symbol":"SPAG1","name":"sperm associated antigen 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24055112[PMID]","hgnc":"11212","ensembl":"ENSG00000104450","omim":"603395","loci":["8q22.2"]},{"symbol":"SPEF2","name":"sperm flagellar and cilia associated 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31545650[PMID]","hgnc":"26293","ensembl":"ENSG00000152582","omim":"610172","loci":["5p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":44.0,"area":"Pakistan","status":"Validated","source":"19720631[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"23871404[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-10","source":"20301301[PMID]_28250080[PMID]","terms":[{"hpo":"HP:0012206","label":"Abnormal sperm motility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032016","label":"Abnormal sputum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002257","label":"Chronic rhinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011109","label":"Chronic sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001742","label":"Nasal congestion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100582","label":"Nasal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031245","label":"Productive cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005425","label":"Recurrent sinopulmonary infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031456","label":"Ectopic pregnancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008222","label":"Female infertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032543","label":"Lithoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025177","label":"Peribronchovascular interstitial thickening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011617","label":"Pulmonary situs ambiguus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011274","label":"Recurrent mycobacterial infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011535","label":"Abnormal atrial arrangement","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025576","label":"Abnormal inferior vena cava morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011539","label":"Atrial situs ambiguous","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001748","label":"Polysplenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}