{"orpha":377,"name":"Gorlin syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Basal cell nevus syndrome","Gorlin-Goltz syndrome","NBCCS","Nevoid basal cell carcinoma syndrome"],"definition":"A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-377/","orphanet_url":"https://www.orpha.net/en/disease/detail/377","names":{"fr":{"name":"Syndrome de Gorlin","synonyms":["NBCCS","Naevomatose basocellulaire","Syndrome de Gorlin-Goltz"],"definition":"Maladie héréditaire rare due à une transmission autosomique dominante avec hamartose caractérisée par de multiples carcinomes basocellulaires (BCC) à apparition précoce, de multiples kératokystes de la mâchoire et des anomalies du développement osseux."},"de":{"name":"Gorlin-Syndrom","synonyms":["Basalzell-Naevus-Syndrom","Gorlin-Goltz-Syndrom","NBCCS","Naevoides Basalzellkarzinom-Syndrom"],"definition":"Eine seltene, autosomal-dominant vererbte Erbkrankheit mit Hamartose, die durch multiple, früh auftretende Basalzellkarzinome (BCC), multiple Kieferkeratozysten und Skelettanomalien gekennzeichnet ist."},"es":{"name":"Síndrome de Gorlin","synonyms":["NBCCS","Síndrome de Gorlin-Goltz","Síndrome de carcinoma nevoide de células basales","Síndrome de nevo de células basales","Síndrome del carcinoma nevoide de células basales","Síndrome del nevo de células basales"],"definition":"Es un trastorno hereditario poco frecuente de transmisión autosómica dominante con hamartosis caracterizado por múltiples carcinomas basocelulares (CBC) de aparición temprana, múltiples queratoquistes mandibulares y anomalías esqueléticas."},"it":{"name":"Sindrome di Gorlin","synonyms":["NBCCS","Sindrome da carcinoma nevoide delle cellule basali","Sindrome del nevo basocellulare","Sindrome di Gorlin-Goltz"],"definition":"La sindrome di Gorlin (GS) con amartosi è una malattia ereditaria rara, a trasmissione autosomica dominante, caratterizzata da carcinomi basocellulari (BCC) multipli ad esordio precoce, cheratocisti multiple della mascella ed anomalie scheletriche."},"nl":{"name":"Syndroom van Gorlin","synonyms":["Basaalcelnaevus-syndroom","NBCCS","Nevoïd basaalcelcarcinoom-syndroom","Syndroom van Gorlin-Goltz"],"definition":"Een zeldzame, erfelijke stoornis door autosomaal dominante transmissie met hamartose, gekarakteriseerd door multipele, vroeg aanvangende basaalcelcarcinomen (BCC), meervoudige keratocysten in de kaak, en skeletafwijkingen."},"pt":{"name":"Síndrome Gorlin","synonyms":["Carcinoma das células basais nevóides"]},"pl":{"name":"Zespół Gorlina","synonyms":["NBCCS","Zespół Gorlina i Goltza","Zespół nabłoniaków znamionowych","Zespół znamion podstawnokomórkowych"],"definition":"Rzadka dziedziczna choroba z hamartozą, dziedziczona w sposób autosomalny dominujący, charakteryzująca się mnogimi ogniskami raka podstawnokomórkowego o wczesnym początku, mnogimi torbielami rogowaciejącymi (keratocystami) żuchwy oraz nieprawidłowościami szkieletowymi."},"cs":{"name":"Gorlinův syndrom","synonyms":["NBCCS","Syndrom névoidních bazaliomů","Syndrom Gorlinův-Goltzův","Syndrom Gorlin-Goltzův"]},"uk":{"name":"Синдром Горліна","synonyms":["Синдром базальноклітинного невусу","Синдром Горліна-Гольца","NBCCS","Синдром невульгарної базальноклітинної карциноми"],"definition":"A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities."},"zh":{"name":"Gorlin综合征","synonyms":["痣样基底细胞癌综合征"]},"tr":{"name":"Gorlin sendromu","synonyms":["NBCCS","Gorlin-Goltz sendromu","Bazal hücreli nevüs sendromu","Nevoid bazal hücreli karsinom sendromu"]}},"xrefs":[{"source":"OMIM","code":"109400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620343","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C44.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1012745138"},{"source":"MONDO","code":"0007187","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001478","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0004779","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7166","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062804","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2081,"name":"Cerebral gigantism-jaw cysts syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[{"symbol":"PTCH1","name":"patched 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301330[PMID]_19032739[PMID]","hgnc":"9585","ensembl":"ENSG00000185920","omim":"601309","loci":["9q22.32"]},{"symbol":"SUFU","name":"SUFU negative regulator of hedgehog signaling","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25403219[PMID]_19533801[PMID]_22829011[PMID]","hgnc":"16466","ensembl":"ENSG00000107882","omim":"607035","loci":["10q24.32"]},{"symbol":"PTCH2","name":"patched 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18285427[PMID]_23479190[PMID]","hgnc":"9586","ensembl":"ENSG00000117425","omim":"603673","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.3,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.39,"area":"Italy","status":"Validated","source":"10066029[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.61,"area":"Australia","status":"Validated","source":"8042673[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.007,"area":"Korea, Republic of","status":"Validated","source":"15183409[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Worldwide","status":"Validated","source":"24403894[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-25","source":"25131638[PMID]_29373110[PMID]","terms":[{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010610","label":"Palmar pits","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010612","label":"Plantar pits","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000907","label":"Anterior rib cupping","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000892","label":"Bifid ribs","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005462","label":"Calcification of falx cerebri","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010603","label":"Odontogenic keratocysts of the jaw","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008422","label":"Vertebral wedging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005449","label":"Bridged sella turcica","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010618","label":"Ovarian fibroma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010617","label":"Cardiac fibroma","frequency":"Very rare (<4-1%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002885","label":"Medulloblastoma","frequency":"Very rare (<4-1%)","criteria":"Diagnostic criterion"}]}}