{"orpha":3474,"name":"CHIME syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome","Congenital disorder of glycosylation due to PIGL deficiency","Neuroectodermal dysplasia, CHIME type","Neuroectodermal syndrome, Zunich type","PIGL-CDG","Zunich-Kaye syndrome"],"definition":"CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3474/","orphanet_url":"https://www.orpha.net/en/disease/detail/3474","names":{"fr":{"name":"Syndrome CHIME","synonyms":["Anomalie congénitale de la glycosylation par déficit en PIGL","Dysplasie neuroectodermique type CHIME","PIGL-CDG","Syndrome colobome-maladie cardiaque congénitale-dermatose ichtyosiforme-déficience intellectuelle-anomalie des oreilles","Syndrome de Zunich-Kaye","Syndrome neuroectodermique type Zunich"],"definition":"Le syndrome CHIME est une dysplasie ectodermique rare caractérisée par des colobomes oculaires, des anomalies cardiaques, une dermatose ichtyosiforme, un déficit intellectuel, une surdité de conduction et une épilepsie."},"de":{"name":"CHIME-Syndrom","synonyms":["Dysplasie, neuroektodermale, Typ CHIME","Kohlenhydrat-defizientes Glykoprotein-Syndrom durch PIGL-Mangel","Kolobom-kongenitale Herzkrankheit-ichthyosiforme Dermatose-Intelligenzminderung-Ohrenanomalien","Neuroektodermales Syndrom Typ Zunich","PIGL-CDG","Zunich-Kaye-Syndrom"],"definition":"Das Zunich-Kaye-Syndrom ist ein seltenes Ektodermale-Dysplasie-Syndrom mit okulären Kolobomen, Herzfehlern, ichthyosiformer Dermatose, intellektueller Behinderung, Schallleitungs-Schwerhörigkeit und Epilepsie."},"es":{"name":"Síndrome CHIME","synonyms":["Displasia neuroectodérmica tipo CHIME","Displasia neuroectodérmica tipo Zunich","PIGL-CDG","Síndrome de Zunich-Kaye","Síndrome de coloboma-cardiopatía congénita-dermatosis ictiosiforme-discapacidad intelectual-anomalías de las orejas","Trastorno congénito de la glicosilación por deficiencia de PIGL"],"definition":"El síndrome de Zunich-Kaye es una displasia ectodérmica rara caracterizada por colobomas oculares, defectos cardiacos, dermatosis ictiosiforme, discapacidad intelectual, pérdida conductiva de audición y epilepsia."},"it":{"name":"Sindrome CHIME","synonyms":["Displasia neuroectodermica, tipo CHIME","Disturbo congenito della glicosilazione da deficiti di PIGL","PIGL-CDG","Sindrome coloboma-cardiopatia-dermatosi ittiosiforme-deficit cognitivo-orecchie anomale","Sindrome di Zunich-Kaye","Sindrome neuroectodermica, tipo Zunich"],"definition":"La sindrome di Zunich-Kaye è una sindrome rara da displasia ectodermica caratterizzata da colobomi oculari, cardiopatie, dermatite ittiosiforme, deficit cognitivo, sordità conduttiva ed epilessia."},"nl":{"name":"CHIME-syndroom","synonyms":["Coloboom - congenitale hartziekte - ichthyosiforme dermatose - intellectuele achterstand - ooranomalieën-syndroom","Congenitale stoornis van de glycosylatie door PIGL-deficiëntie","Neuro-ectodermaal syndroom, Zunich-type","Neuro-ectodermale dysplasie, CHIME-type","PIGL-CDG","Syndroom van Zunich-Kaye"],"definition":"Zunich-Kayesyndroom is een zeldzaam, ectodermale dysplasiesyndroom, gekenmerkt door oculaire colobomen, hartafwijkingen, ichthyosiforme dermatose, intellectuele achterstand, conductief gehoorverlies en epilepsie."},"pt":{"name":"Síndrome CHIME","synonyms":["Displasia neuroectodérmica, tipo CHIME","PIGL-CDG","Síndrome Zunich-Kaye","Síndrome neuroectodérmica, tipo Zunich"]},"pl":{"name":"Zespół CHIME","synonyms":["Dysplazja neuroektodermalna, typu CHIME","PIGL-CDG","Wrodzone zaburzenie glikozylacji z powodu niedoboru PIGL","Zespół neuroektodermalny, typu Zunicha","Zespół szczelina oka-wrodzona choroba serca-dermatoza w typie rybiej łuski-niepełnosprawność intelektualna-wady uszu","Zespół Zunicha i Kaye'a"]},"cs":{"name":"CHIME syndrom","synonyms":["Neuroektodermální dysplázie, typ CHIME","Neuroektodermální syndrom, typ Zunichové","PIGL-CDG","Zunichové-Kayeové syndrom","Syndrom zahrnující kolobom, vrozené srdeční onemocnění, ichtyoziformní dermatózu, mentální postižení a anomálie ucha","Vrozená porucha glykosylace způsobená deficitem PIGL","Zunich-Kayeové syndrom"]},"uk":{"name":"Синдром CHIME","synonyms":["Синдром колобоми - вродженої вади серця - іхтіозиформного дерматозу - розумової відсталості - вушних аномалій","Вроджене порушення глікозилювання внаслідок дефіциту PIGL","Нейроектодермальна дисплазія, тип CHIME","Нейроектодермальний синдром, тип Зуніха","PIGL-CDG","Синдром Зуніча-Кейє"],"definition":"CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy."},"zh":{"name":"CHIME综合征","synonyms":["眼缺损-先天性心脏病-鱼鳞病样皮肤病-智力障碍-耳畸形综合征"]},"tr":{"name":"CHIME sendromu","synonyms":["PIGL-CDG","Zunich-Kaye sendromu","Nöroektodermal displazi, CHIME tipi","Nöroektodermal sendrom, Zunich tipi","PIGL eksikliğine bağlı Doğumsal glikosilasyon bozukluğu","Koloboma-doğumsal kalp hastalığı-iktiyoziform dermatoz-zihinsel yetersizlik-kulak anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"280000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"920396015"},{"source":"MONDO","code":"0010221","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848392","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"310","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371183,"name":"Congenital disorder of glycosylation with cardiac malformation as a major feature","classifications":[147,148,156]},{"orpha":371212,"name":"Congenital disorder of glycosylation with deafness as a major feature","classifications":[147,156,200]},{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":371200,"name":"Congenital disorder of glycosylation with skin involvement","classifications":[156,187]},{"orpha":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","classifications":[150,156]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"PIGL","name":"phosphatidylinositol glycan anchor biosynthesis class L","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22444671[PMID]","hgnc":"8966","ensembl":"ENSG00000108474","omim":"605947","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"22444671[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22444671[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-01","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009767","label":"Aplasia/Hypoplasia of the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010173","label":"Aplasia/Hypoplasia of the phalanges of the toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010882","label":"Pulmonary valve atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}