{"Name":"Familial congenital nasolacrimal duct obstruction","DiseaseID__c":"GARD:0017784","id":17784,"encodedName":"familial-congenital-nasolacrimal-duct-obstruction","IsDeleted":false,"Disease_Name_Full__c":"Familial congenital nasolacrimal duct obstruction","Xref_IDs__c":"C1835612; C566703; MEDGEN:332018; MONDO:0007871; OMIM:149700; ORPHA:451612","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:451612","Disease_Description__c":"A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal draingage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.","GARD_Name__c":"Familial congenital nasolacrimal duct obstruction","GARD_Synonym__c":"lacrimal duct defect; lacrimal puncta, absence of","Curated_Disease_Description_Source__c":"ORPHA:451612","Curated_Disease_Description__c":"A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:451612","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007871","ORPHANET_ID__c":"ORPHA:451612","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Obstrucción congénita familiar del conducto nasolagrimal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"obstrucción congénita familiar del conducto nasolagrimal","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":"A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.","Curated_Disease_Description_Source__c":"ORPHA:451612","GARD_Synonym__c":"lacrimal duct defect; lacrimal puncta, absence of","Name":"Familial congenital nasolacrimal duct obstruction","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:451612"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:451612"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835612","Source__c":"C1835612","Xref__c":"C1835612"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332018","Source__c":"C1835612","Xref__c":"MEDGEN:332018"},{"URL__c":"https://www.omim.org/entry/149700","Source__c":"C1835612; MONDO:0007871; ORPHA:451612","Xref__c":"OMIM:149700"},{"URL__c":"https://www.orpha.net/en/disease/detail/451612","Source__c":"C1835612; MONDO:0007871","Xref__c":"ORPHA:451612"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566703","Source__c":"MONDO:0007871","Xref__c":"C566703"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007871","Source__c":"GARD:0017784","Xref__c":"MONDO:0007871"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IGSF3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:149700","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the nasolacrimal sac.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000620","HPO_Synonym__c":"Dacrocystitis; Infection of the lacrimal sac","HPO_Name__c":"Dacryocystitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:149700","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000509","HPO_Synonym__c":"Pink eye","HPO_Name__c":"Conjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:149700","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Edema affecting the region situated around the orbit of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100539","HPO_Synonym__c":"Periorbital cellulitis","HPO_Name__c":"Periorbital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:149700","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000246","HPO_Synonym__c":"Sinus inflammation","HPO_Name__c":"Sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:149700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:149700","Feature__r":{"HPO_Description__c":"A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030752","HPO_Synonym__c":"Timo cyst","HPO_Name__c":"Dacryocystocele","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:149700","Feature__r":{"HPO_Description__c":"A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000564","HPO_Synonym__c":"Imperforate nasolacrimal ducts; Nasolacrimal duct atresia; Unopened tear duct","HPO_Name__c":"Lacrimal duct atresia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Otolaryngology","Pediatrics"]},"synonyms":["lacrimal duct defect"," lacrimal puncta, absence of"]}