{"orpha":199302,"name":"Isolated cleft lip","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199302/","orphanet_url":"https://www.orpha.net/en/disease/detail/199302","names":{"fr":{"name":"Fente labiale isolée","definition":"La fente labiale isolée est une embryopathie de type fissuraire qui atteint la lèvre supérieure et le seuil nasal."},"de":{"name":"Lippenspalte, isolierte","definition":"Die Isolierte Lippenspalte ist eine Embryopathie mit einer Fissur, die von der Oberlippe bis zur Basis der Nase reicht."},"es":{"name":"Labio leporino aislado","definition":"El labio leporino aislado es una embriopatía de tipo fisura que se extiende desde el labio superior a la base de la nariz."},"it":{"name":"Labioschisi isolata","definition":"La labioschisi isolata è un'embriopatia che consiste in una fissurazione, che si estende dal labbro superiore alla base del naso."},"nl":{"name":"Geïsoleerde gespleten lip","definition":"Geïsoleerde gespleten lip is een fissuren-embryopathie die zich uitstrekt van de bovenlip tot de neusbasis."},"pt":{"name":"Fenda do lábio isolada","definition":"A fenda do lábio isolada é uma embriopatia do tipo fissura que se estende desde o lábio superior até à base nasal."},"pl":{"name":"Izolowany rozszczep wargi"},"cs":{"name":"Izolovaný rozštěp patra"},"uk":{"name":"Ізольована розщілина губи","definition":"Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base."},"zh":{"name":"单独唇裂","definition":"孤立性唇裂是一种从上唇延伸到鼻基底的裂隙型胚胎病。"},"tr":{"name":"İzole yarık dudak"}},"xrefs":[{"source":"OMIM","code":"119530","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"129400","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"225060","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600757","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"602966","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"608371","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"608874","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610361","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"612858","qualifier":"ND","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q36.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q36.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q36.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"172183323"},{"source":"MONDO","code":"0016043","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837217","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10009259","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1991,"name":"Cleft lip with or without cleft palate","classifications":[147,209]}],"children":[],"genes":[{"symbol":"TAF11","name":"TATA-box binding protein associated factor 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39727181[PMID]","hgnc":"11544","ensembl":null,"omim":null,"loci":["6p21.31"]},{"symbol":"IRF6","name":"interferon regulatory factor 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"17438386[PMID]","hgnc":"6121","ensembl":"ENSG00000117595","omim":"607199","loci":["1q32.2"]},{"symbol":"MSX1","name":"msh homeobox 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12807959[PMID]","hgnc":"7391","ensembl":"ENSG00000163132","omim":"142983","loci":["4p16.2"]},{"symbol":"NECTIN1","name":"nectin cell adhesion molecule 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"16674562[PMID]","hgnc":"9706","ensembl":"ENSG00000110400","omim":"600644","loci":["11q23.3"]},{"symbol":"TP63","name":"tumor protein p63","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"16740912[PMID]_21567929[PMID]","hgnc":"15979","ensembl":"ENSG00000073282","omim":"603273","loci":["3q28"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"Pr Marie-Paule VAZQUEZ[EXPERT]_Dr Eva GALLIANI[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-01","source":"19747722[PMID]_20796225[PMID]_22889852[PMID]_26709327[PMID]_27943390[PMID]_30406510[PMID]_26857758[PMID]_30859050[PMID]_26153759[PMID]","terms":[{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040115","label":"Abnormality of the Eustachian tube","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100336","label":"Bilateral cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031469","label":"Low self esteem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011438","label":"Maternal teratogenic exposure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006332","label":"Supernumerary maxillary incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000220","label":"Velopharyngeal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null}]}}