{"orpha":2377,"name":"Laurence-Moon syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["LMS"],"definition":"A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2377/","orphanet_url":"https://www.orpha.net/en/disease/detail/2377","names":{"fr":{"name":"Syndrome de Laurence-Moon","definition":"Maladie génétique très rare avec atteinte multisystémique caractérisée par des manifestations neurologiques, ophtalmologiques et endocriniennes progressives à l'origine d'un handicap sévère."},"de":{"name":"Laurence-Moon-Syndrom","synonyms":["LMS"],"definition":"Eine sehr seltene genetische Multisystemerkrankung, die durch fortschreitende neurologische, ophthalmologische und endokrine Symptome gekennzeichnet ist und zu schweren Behinderungen führt."},"es":{"name":"Síndrome de Laurence-Moon","definition":"Es un trastorno genético multisistémico muy infrecuente caracterizado por manifestaciones neurológicas, oftalmológicas y endocrinas progresivas que conducen a una discapacidad grave."},"it":{"name":"Sindrome di Laurence-Moon","synonyms":["LMS"],"definition":"La sindrome di Laurence-Moon (LMS) è una malattia genetica multisistemica molto rara, caratterizzata da disfunzione ipofisaria, atassia, neuropatia periferica, paraplegia spastica e distrofia corioretinica."},"nl":{"name":"Syndroom van Laurence-Moon","synonyms":["LMS"],"definition":"Een zeer zeldzame, genetische multisystemische aandoening, gekenmerkt door progressieve neurologische, oftalmologische en endocriene manifestaties die leiden tot ernstige invaliditeit."},"pt":{"name":"Síndrome Laurence-Moon","synonyms":["LMS"],"definition":"Doença genética multissistémica muito rara, caracterizada por manifestações neurológicas, oftalmológicas e endócrinas progressivas, levando a manifestações clínicas graves."},"pl":{"name":"Zespół Laurence'a i Moona","synonyms":["LMS"]},"cs":{"name":"Laurenceův-Moonův syndrom","synonyms":["Laurence-Moonův syndrom"]},"uk":{"name":"Синдром Лоуренса-Муна","synonyms":["LMS"],"definition":"A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap."},"zh":{"name":"劳伦斯-穆恩综合征"},"tr":{"name":"Laurence-Moon sendromu"}},"xrefs":[{"source":"OMIM","code":"245800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"458834940"},{"source":"MONDO","code":"0009514","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007849","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023138","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12635","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056710","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]},{"orpha":156183,"name":"Retinal ciliopathy due to mutation in Bardet-Biedl gene","classifications":[156]}],"children":[],"genes":[{"symbol":"PNPLA6","name":"patatin like domain 6, lysophospholipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25480986[PMID]","hgnc":"16268","ensembl":"ENSG00000032444","omim":"603197","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009896","label":"Abnormality of the antitragus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}