{"Name":"Rutland ciliary disorientation syndrome","DiseaseID__c":"GARD:0001360","id":1360,"encodedName":"rutland-ciliary-disorientation-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Rutland ciliary disorientation syndrome","Xref_IDs__c":"233667003; C0340038; C562757; MEDGEN:83299; MONDO:0008984; OMIM:215518","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:215518","Disease_Description__c":"In a 12-year-old boy whose parents had immigrated to Australia from Lebanon, {4:Rutland and de Iongh (1990)} described a history of pulmonary problems dating from the first weeks of life. With quantitative methods for measuring ciliary orientation ({1:de Iongh and Rutland, 1989}), they showed that the orientation of the cilia was random as compared to parallel in patients with recurrent respiratory tract infections and in normal subjects. {4:Rutland and de Iongh (1990)} considered the orientation to be a primary defect. They suggested that this patient might be fertile since the orientation of sperm tails in relation to each other would not be expected to have an effect on fertility. They pointed out that normal ciliary ultrastructure has been reported in patients with Kartagener syndrome ({3:Herzon and Murphy, 1980}; {2:Greenstone et al., 1983}) and they suggested that random ciliary orientation could be the defect in some of these patients. Parental consanguinity was not commented on; there were no indications of abnormalities in the parents or sibs.","GARD_Name__c":"Rutland ciliary disorientation syndrome","GARD_Synonym__c":"ciliary discoordination due to random ciliary orientation","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Ciliary discoordination due to random ciliary orientation is a condition that affects the tiny hairs called cilia in the respiratory tract. These hairs help to move mucus and other substances out of the lungs. In patients with this condition, the cilia are not oriented in the same direction, which can lead to recurrent respiratory tract infections. A case study of ciliary discoordination appeared to reveal that the condition is present from birth and may not affect fertility.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:215518","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008984","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Ciliary discoordination due to random ciliary orientation is a condition that affects the tiny hairs called cilia in the respiratory tract. These hairs help to move mucus and other substances out of the lungs. In patients with this condition, the cilia are not oriented in the same direction, which can lead to recurrent respiratory tract infections. A case study of ciliary discoordination appeared to reveal that the condition is present from birth and may not affect fertility.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"ciliary discoordination due to random ciliary orientation","Name":"Rutland ciliary disorientation syndrome","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340038","Source__c":"C0340038","Xref__c":"C0340038"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83299","Source__c":"C0340038","Xref__c":"MEDGEN:83299"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233667003","Source__c":"C0340038; MONDO:0008984","Xref__c":"233667003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562757","Source__c":"MONDO:0008984","Xref__c":"C562757"},{"URL__c":"https://www.omim.org/entry/215518","Source__c":"C0340038; MONDO:0008984","Xref__c":"OMIM:215518"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008984","Source__c":"GARD:0001360","Xref__c":"MONDO:0008984"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:215518","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:215518","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["ciliary discoordination due to random ciliary orientation"]}