{"orpha":2850,"name":"Alopecia-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Perniola-Krajewska-Carnevale syndrome"],"definition":"An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2850/","orphanet_url":"https://www.orpha.net/en/disease/detail/2850","names":{"fr":{"name":"Syndrome de Perniola-Krajewska-Carnevale","synonyms":["Syndrome d'alopécie-déficience intellectuelle"],"definition":"Le syndrome de Perniola-Krajewska-Carnevale est un syndrome extrêmement rare décrit chez moins de 20 familles jusqu'à présent, et caractérisé par une alopécie totale ou partielle associée à une déficience intellectuelle. Le syndrome peut être associé à d'autres anomalies telles que des convulsions, une surdité neurosensorielle, un retard de développement psychomoteur et /ou une hypertonie."},"de":{"name":"Alopezie-Intelligenzminderung-Syndrom","synonyms":["Perniola-Krajewska-Carnevale-Syndrom"],"definition":"Eine extrem seltene genetische syndromale Form der Intelligenzminderung, die bisher in weniger als 20 Familien beschrieben wurde und durch totale oder partielle Alopezie in Verbindung mit einem intellektuellen Defizit gekennzeichnet ist. Das Syndrom kann mit anderen Anomalien wie Krampfanfällen, sensorineuraler Schwerhörigkeit, verzögerter psychomotorischer Entwicklung und/oder Hypertonie einhergehen."},"es":{"name":"Síndrome de alopecia-discapacidad intelectual","synonyms":["Síndrome de Perniola-Krajewska-Carnevale"],"definition":"Es un síndrome extremadamente infrecuente, descrito en menos de 20 familias hasta la fecha, caracterizado por alopecia total o parcial asociada con discapacidad intelectual. El síndrome puede estar asociado con otras anomalías como convulsiones, pérdida de audición neurosensorial, retraso en el desarrollo psicomotor, y/o hipertonía."},"it":{"name":"Sindrome alopecia-disabilità intellettiva","synonyms":["Sindrome di Perniola-Krajewska-Carnevale"],"definition":"La sindrome alopecia-deficit cognitivo è una sindrome estremamente rara descritta finora in meno di 20 famiglie. È caratterizzata dall'alopecia parziale o totale e dal deficit cognitivo. La sindrome può associarsi ad altre anomalie, come le convulsioni, la sordità neurosensoriale, il ritardo dello sviluppo psicomotorio e/o l'ipertonia."},"nl":{"name":"Alopecie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Perniola-Krajewska-Carnevale"],"definition":"Een uiterst zeldzame, genetische, syndromale intellectuele achterstand, tot op heden beschreven bij minder dan 20 families en gekarakteriseerd door volledige of gedeeltelijke alopecie geassocieerd met intellectuele achterstand. Het syndroom kan geassocieerd zijn met andere anomalieën zoals insulten, sensorineuraal gehoorverlies, psychomotorische ontwikkelingsachterstand, en/of hypertonie."},"pt":{"name":"Síndrome de alopecia-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Perniola-Krajewska-Carnevale"]},"pl":{"name":"Zespół łysienie - niepełnosprawność intelektualna","synonyms":["Zespół Perniola, Krajewskiej i Carnevale"]},"cs":{"name":"Syndrom zahrnující alopecii a mentální retardaci","synonyms":["Perniolův-Krajewské-Carnevaleův syndrom","Perniola-Krajewska-Carnevaleův syndrom"]},"uk":{"name":"Синдром алопеції та інтелектуальної недостатності","synonyms":["Синдром Перніоли-Краєвської-Карневале"],"definition":"An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia."},"zh":{"name":"脱发-智力障碍综合征","synonyms":["Perniola-Krajewska-Carnevale综合征"]},"tr":{"name":"Alopesi-zihinsel yetersizlik sendromu","synonyms":["Perniola-Krajewska-Carnevale sendromu"]}},"xrefs":[{"source":"OMIM","code":"203650","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"610422","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613930","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618840","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008756","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536660","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931280","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"612","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2574,"name":"Moynahan syndrome","status":"inactive"}],"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":[{"symbol":"AHSG","name":"alpha 2-HS glycoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28054173[PMID]","hgnc":"349","ensembl":"ENSG00000145192","omim":"138680","loci":["3q27.3"]},{"symbol":"ITGB6","name":"integrin subunit beta 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26695873[PMID]","hgnc":"6161","ensembl":"ENSG00000115221","omim":"147558","loci":["2q24.2"]},{"symbol":"LSS","name":"lanosterol synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30723320[PMID]","hgnc":"6708","ensembl":"ENSG00000160285","omim":"600909","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28054173[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"18616779[PMID]_28054173[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","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:0011842","label":"Abnormality of skeletal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200012","label":"Short corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}