{"orpha":1946,"name":"Amelocerebrohypohidrotic syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Epilepsy-dementia-amelogenesis imperfecta syndrome","Kohlschütter-Tönz syndrome"],"definition":"A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1946/","orphanet_url":"https://www.orpha.net/en/disease/detail/1946","names":{"fr":{"name":"Syndrome amélocérébrohypohidrotique","synonyms":["Syndrome d'épilepsie-démence-amélogenèse imparfaite","Syndrome de Kohlschütter-Tönz"],"definition":"Syndrome autosomique récessif génétiquement hétérogène caractérisé par la triade associant amélogenèse imparfaite, épilepsie infantile et déficience intellectuelle avec ou sans régression et démence."},"de":{"name":"Amelo-zerebro-hypohidrotisches Syndrom","synonyms":["Epilepsie - Demenz - Amelogenesis imperfecta","Kohlschütter-Tonz-Syndrom"],"definition":"Ein genetisch heterogenes autosomal-rezessives Syndrom, das durch die Trias Amelogenesis imperfecta, Epilepsie mit Beginn im Kindesalter, Intelligenzminderung mit oder ohne Regression und Demenz gekennzeichnet ist."},"es":{"name":"Síndrome amelo-cerebro-hipohidrótico","synonyms":["Síndrome de Kohlschütter-Tonz"],"definition":"Es un síndrome autosómico recesivo genéticamente heterogéneo caracterizado por la tríada de amelogénesis imperfecta, epilepsia de inicio en el lactante, discapacidad intelectual con o sin regresión y demencia."},"it":{"name":"Sindrome amelo-cerebro-ipoidrotica","synonyms":["Epilessia - demenza - amelogenesi imperfetta","Sindrome di Kohlschutter-Tonz"],"definition":"La sindrome di Kohlschütter-Tönz (KTS) è una malattia eterogenea dal punto di vista genetico, a trasmissione autosomica recessiva. È caratterizzata dalla triade amelogenesi imperfetta, epilessia ad esordio neonatale, disabilità intellettiva con o senza regressione e demenza."},"nl":{"name":"Amelo-cerebro-hypohidrotisch syndroom","synonyms":["Epilepsie - dementie - amelogenesis imperfecta-syndroom","Syndroom van Kohlschutter-Tonz"],"definition":"Een genetisch heterogeen, autosomaal recessief syndroom, gekenmerkt door de triade van amelogenesis imperfecta, epilepsie met infantiele aanvang, intellectuele achterstand met of zonder regressie en dementie."},"pt":{"name":"Síndrome amelo-cerebro-hipohidrótico","synonyms":["Síndrome Kohlschutter-Tonz","Síndrome de epilepsia-demência-amelogénese imperfeita"]},"pl":{"name":"Zespół szkliwno-mózgowo-niepotliwy","synonyms":["Padaczka - otępienie - amelogenesis imperfecta","Zespół Kohlschuttera i Tonza"],"definition":"Genetycznie heterogenny zespół o dziedziczeniu autosomalnym recesywnym, który charakteryzuje się triadą objawów: niedoskonała amelogeneza, padaczka o początku w okresie niemowlęcym, niepełnosprawność intelektualna z/bez regresu z otępieniem."},"cs":{"name":"Amelocerebrohypohidrotický syndrom","synonyms":["Syndrom zahrnující epilepsii, demenci a amelogenesis imperfecta","Kohlschutterův-Tonzův syndrom","Kohlschutter-Tonzův syndrom"]},"uk":{"name":"Амелоцереброгіпогідротичний синдром","synonyms":["Синдром недосконалого амелогенезу з епілепсією та деменцією","Синдром Кольшюттера-Тенца"],"definition":"A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia."},"zh":{"name":"釉质形成-脑-少汗综合征","synonyms":["癫痫-痴呆-牙釉质形成不良综合征"]},"tr":{"name":"Ameloserebrohipohidrotik sendromu","synonyms":["Kohlschütter-Tönz sendromu","Epilepsi-demans-amelogenezis imperfekta sendromu"]}},"xrefs":[{"source":"OMIM","code":"226750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"803642820"},{"source":"MONDO","code":"0009185","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537213","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406740","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3128","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ROGDI","name":"rogdi atypical leucine zipper","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22424600[PMID]","hgnc":"29478","ensembl":"ENSG00000067836","omim":"614574","loci":["16p13.3"]},{"symbol":"SLC13A5","name":"solute carrier family 13 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27600704[PMID]","hgnc":"23089","ensembl":"ENSG00000141485","omim":"608305","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000705","label":"Amelogenesis imperfecta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006286","label":"Yellow-brown discoloration of the teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}