{"Name":"Lowe-Kohn-Cohen syndrome","DiseaseID__c":"GARD:0001695","id":1695,"encodedName":"lowe-kohn-cohen-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lowe-Kohn-Cohen syndrome","Xref_IDs__c":"766249007; C4707726; C535996; MEDGEN:1646729; MONDO:0016568; ORPHA:2408","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016568","Disease_Description__c":"Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.","GARD_Name__c":"Lowe-Kohn-Cohen syndrome","GARD_Synonym__c":"deafness-nephritis-ano-rectal malformation syndrome; deafness, nephritis, anorectal malformation syndrome; hearing loss-nephritis-ano-rectal malformation syndrome; lowe kohn cohen syndrome","Curated_Disease_Description_Source__c":"MONDO:0016568","Curated_Disease_Description__c":"Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.","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:2408","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016568","ORPHANET_ID__c":"ORPHA:2408","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de lowe kohn cohen","Spanish_Description_Source__c":"ORPHA:2408","Spanish_Description__c":"Es un síndrome malformativo anorrectal extremadamente poco frecuente caracterizado por ano imperforado, fístula ano-perineal cerrada, apéndices preauriculares y ausencia de anomalías renales y malformaciones preaxiales de las extremidades. No ha habido más casos descritos en la literatura desde 1983.","Spanish_Disease_Name__c":"síndrome de lowe kohn cohen","Spanish_GARD_Synonym__c":"síndrome de hipoacusia-nefritis-malformación anorrectal; síndrome de sordera-nefritis-malformación anorrectal","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":"Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.","Curated_Disease_Description_Source__c":"MONDO:0016568","GARD_Synonym__c":"deafness-nephritis-ano-rectal malformation syndrome; deafness, nephritis, anorectal malformation syndrome; hearing loss-nephritis-ano-rectal malformation syndrome; lowe kohn cohen syndrome","Name":"Lowe-Kohn-Cohen syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2408"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2408"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535996","Source__c":"MONDO:0016568","Xref__c":"C535996"},{"URL__c":"https://www.orpha.net/en/disease/detail/2408","Source__c":"C4707726; MONDO:0016568; ORPHA:2408","Xref__c":"ORPHA:2408"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766249007","Source__c":"C4707726; MONDO:0016568","Xref__c":"766249007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707726","Source__c":"C4707726","Xref__c":"C4707726"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1646729","Source__c":"C4707726","Xref__c":"MEDGEN:1646729"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016568","Source__c":"GARD:0001695","Xref__c":"MONDO:0016568"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the anus or rectum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012732","HPO_Name__c":"Anorectal anomaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000384","HPO_Synonym__c":"Ear tag; Periauricular skin tag; Preauricular acrochordon; Preauricular fibroepithelial polyp; Preauricular skin tags; Preauricular tag; Preauricular tags","HPO_Name__c":"Preauricular skin tag","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Otolaryngology","Pediatrics"]},"synonyms":["deafness-nephritis-ano-rectal malformation syndrome"," deafness, nephritis, anorectal malformation syndrome"," hearing loss-nephritis-ano-rectal malformation syndrome"," lowe kohn cohen syndrome"]}