{"orpha":1008,"name":"Alopecia-epilepsy-pyorrhea-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Shokeir syndrome"],"definition":"A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1008/","orphanet_url":"https://www.orpha.net/en/disease/detail/1008","names":{"fr":{"name":"Syndrome d'alopécie-épilepsie-pyorrhée-déficience intellectuelle","synonyms":["Syndrome de Shokeir"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique qui se caractérise par une alopécie congénitale universalis, une déficience intellectuelle, une épilepsie psychomotrice et une parodontite (pyorrhée). L'alopécie permanente totale et la pyorrhée sont toujours concomitantes, tandis que la déficience intellectuelle et l'épilepsie psychomotrice sont observées chez la plupart des patients. Aucune autre anomalie des ongles ou de la peau (hormis l'absence des cheveux et de la pilosité) n'a été rapportée. La transmission est autosomique dominante."},"de":{"name":"Alopezie-Epilepsie-Pyorrhoe-Intelligenzminderung-Syndrom","synonyms":["Shokeir-Syndrom"],"definition":"Das Alopezie-Epilepsie-Pyorrhoe-Intelligenzminderung-Syndrom ist durch kongenitale permanente Alopezia universalis, Intelligenzminderung, psychomotorische Epilepsie und Paradontitis (Pyorrhoe) gekennzeichnet. Eine vollständige, permanente Alopezie und Pyorrhoe treten bei allen Patienten auf, wohingegen Intelligenzminderung und psychomotorische Epilepsie bei den meisten Patienten beobachtet werden. Abgesehen vom Fehlen der Haare sind keine weiteren Auffälligkeiten der Nägel oder Haut beschrieben. Die Vererbung ist autosomal-dominant."},"es":{"name":"Síndrome de alopecia-epilepsia-piorrea-discapacidad intelectual","synonyms":["Síndrome de Shokeir"],"definition":"Es un síndrome poco frecuente de origen genético caracterizado por alopecia congénita universal permanente, discapacidad intelectual, epilepsia psicomotora y periodontitis (piorrea). La alopecia total permanente y la piorrea son invariablemente concomitantes, mientras que la discapacidad intelectual y la epilepsia psicomotora se observan en la mayoría de los pacientes. No se ha descrito ninguna otra anomalía ungueal o cutánea (al margen de la alopecia). El patrón de transmisión es autosómico dominante."},"it":{"name":"Sindrome alopecia-epilessia-piorrea-disabilità intellettiva","synonyms":["Sindrome di Shokeir"],"definition":"La sindrome alopecia-epilessia-piorrea-disabilità intellettiva è caratterizzata da alopecia universale permanente congenita, disabilità intellettiva, epilessia con ritardo psicomotorio e parodontite (piorrea). L'alopecia completa permanente e la piorrea sono costanti, mentre la disabilità intellettiva e l'epilessia con ritardo psicomotorio sono presenti nella maggior parte dei pazienti. Non si osservano altre anomalie delle unghie o della cute (ad eccezione dell'assenza di capelli). La trasmissione è autosomica dominante."},"nl":{"name":"Alopecie - epilepsie - pyorroe - intellectuele achterstand-syndroom","synonyms":["Syndroom van Shokeir"],"definition":"Een zeldzame, genetische, syndromale intellectuele achterstand, gekarakteriseerd door congenitale permanente alopecia universalis, intellectuele achterstand, psychomotorische epilepsie en parodontitis (pyorroe). Volledige permanente alopecie en pyorroe komen steeds samen voor, terwijl intellectuele achterstand en psychomotorische epilepsie bij de meeste patiënten wordt waargenomen. Er werd geen andere afwijking van nagels of huid (behalve afwezigheid van haar) gerapporteerd. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Síndrome de alopecia-epilepsia-piorreia-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Shokeir"]},"pl":{"name":"Zespół łysienia, padaczki, ropotoku i niepełnosprawności intelektualnej","synonyms":["Zespół Shokeira"]},"cs":{"name":"Syndrom zahrnující alopecii, epilepsii, pyorrheu a mentální retardaci","synonyms":["Shokeirův syndrom"]},"uk":{"name":"Синдром алопеції-епілепсії-піореї-інтелектуальної недостатності","synonyms":["Синдром Шокера"],"definition":"A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant."},"zh":{"name":"脱发-癫痫-脓溢-智力障碍综合征","synonyms":["Shokeir综合征"]},"tr":{"name":"Alopesi-epilepsi-pyorrhea-zihinsel yetersizlik sendromu","synonyms":["Shokeir sendromu"]}},"xrefs":[{"source":"OMIM","code":"104130","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"175543154"},{"source":"MONDO","code":"0007085","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537057","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863090","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"607","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002289","label":"Alopecia universalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null}]}}