{"orpha":477,"name":"KID syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ichthyosis hystrix Rheydt type","KID/HID syndrome","Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome","Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome","Senter syndrome"],"definition":"A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477/","orphanet_url":"https://www.orpha.net/en/disease/detail/477","names":{"fr":{"name":"Syndrome KID","synonyms":["Ichtyose de Rheydt","Syndrome KID/HID","Syndrome de Senter","Syndrome de kératite-ichtyose-surdité/Ichtyose hystrix-like-surdité"],"definition":"Le syndrome kératite (et hystrix-like) ichtyose surdité (KID/HID) est une maladie ectodermique congénitale rare caractérisée par une kératite vascularisée, des lésions cutanées hyperkératosiques et une surdité."},"de":{"name":"KID-Syndrom","synonyms":["Ichthyosis hystrix Typ Rheydt","KID/HID-Syndrom","Keratitis-Ichthyose-Schwerhörigkeit-Syndrom","Keratitis-Ichthyosis-Hörverlust/Hystrixartige Ichthyosis-Hörverlust-Syndrom","Senter-Syndrom"],"definition":"Eine seltene angeborene ektodermale Erkrankung, die durch vaskularisierende Keratitis, hyperkeratotische Hautläsionen und Hörverlust gekennzeichnet ist."},"es":{"name":"Síndrome KID","synonyms":["Ictiosis hystrix tipo Rheydt","Síndrome KID/HID","Síndrome de Senter","Síndrome de queratitis-ictiosis-hipoacusia / ictiosis similar a hystrix-hipoacusia","Síndrome de queratitis-ictiosis-sordera / ictiosis similar a hystrix-sordera"],"definition":"Es una enfermedad ectodérmica congénita poco frecuente caracterizada por una queratitis vascularizante, lesiones cutáneas hiperqueratósicas y sordera."},"it":{"name":"Sindrome KID","synonyms":["Ittiosi istrice tipo Rheydt","Ittiosi istrice-simile - sordità - cheratite","Sindrome KID/HID","Sindrome cheratite-ittiosi-perdita dell'udito/ittiosi simil-istrice-perdita dell'udito","Sindrome cheratite-ittiosi-sordità/ittiosi simil-istrice-sordità","Sindrome di Senter"]},"nl":{"name":"KID-syndroom","synonyms":["Ichthyosis hystrix, Rheydt-type","KID/HID-syndroom","Keratitis - ichthyosis - doofheid/Hystrix-achtige ichthyosis - doofheid-syndroom","Keratitis - ichthyosis - gehoorverlies/Hystrix-achtige ichthyosis - gehoorverlies-syndroom","Syndroom van Senter"],"definition":"Een zeldzame, congenitale, ectodermale aandoening, gekarakteriseerd door vasculariserende keratitis, hyperkeratotische huidletsels en gehoorverlies."},"pt":{"name":"Síndrome KID","synonyms":["Ictiose histrix tipo Rheydt","Síndrome KID/HID","Síndrome Senter","Síndrome de queratite-ictiose-surdez/ictiose histrix-like-perda auditiva","Síndrome de queratite-ictiose-surdez/ictiose histrix-like-surdez"],"definition":"A síndrome de queratose(tipo hystrix)-ictiose-surdez (KID/HID) é uma doença ectodérmica congénita rara caracterizada por queratite vascularizante, lesões cutâneas hiperqueratóticas e surdez."},"pl":{"name":"Zespół KID","synonyms":["Zapalenie rogówki-rybia łuska-głuchota/Kolczasta rybia łuska-głuchota","Zespół KID/HID","Zespół Senter"]},"cs":{"name":"KID syndrom","synonyms":["KID/HID syndrom","Syndrom zahrnující keratitidu, ichtyózu a hluchotu/Hystrix-like ichtióza s hluchotou","Senterův syndrom"]},"uk":{"name":"Синдром КІD","synonyms":["Ichthyosis hystrix типу Rheydt","Кератит-іхтіоз-глухота/Синдром іхтіозу-глухоти, схожий на гістрікс","Кератит-іхтіоз-втрата слуху/Синдром гістрікс-подібного іхтіозу-втрати слуху","Синдром KID/HID","Синдром Сентера"],"definition":"A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss."},"zh":{"name":"角膜炎-鱼鳞病-耳聋综合征","synonyms":["角膜炎-鱼鳞病-听力丧失/豪猪状鱼鳞病-听力丧失综合征"]},"tr":{"name":"KID sendromu","synonyms":["Senter sendromu","KID / HID sendromu","İktiyoz histriks Rheydt tipi","Keratit-iktiyoz-sağırlık / Histriks benzeri iktiyoz-sağırlık sendromu","Keratit-iktiyoz-işitme kaybı / Histriks benzeri iktiyoz-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"148210","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"242150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602540","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1152535279"},{"source":"MONDO","code":"0018781","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536168","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265336","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3113","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048786","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":522566,"name":"Rare genetic inflammatory/autoimmune corneal disorder","classifications":[156]},{"orpha":519290,"name":"Rare inflammatory/autoimmune corneal disorder","classifications":[189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"GJB2","name":"gap junction protein beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4284","ensembl":"ENSG00000165474","omim":"121011","loci":["13q12.11"]},{"symbol":"GJB6","name":"gap junction protein beta 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15140211[PMID]","hgnc":"4288","ensembl":"ENSG00000121742","omim":"604418","loci":["13q12.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ISBN:0723436657[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ISBN:0723436657[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-03","source":"32367610[PMID]_32733727[PMID]_31421982[PMID]_33614714[PMID]","terms":[{"hpo":"HP:0011496","label":"Corneal neovascularization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007431","label":"Congenital ichthyosiform erythroderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032107","label":"Limbal stem cell deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000399","label":"Prelingual sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011859","label":"Punctate keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008625","label":"Severe sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030318","label":"Angular cheilitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008038","label":"Aplastic/hypoplastic lacrimal glands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025084","label":"Folliculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001805","label":"Onychogryphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025610","label":"Posterior blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011370","label":"Recurrent cutaneous fungal infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040154","label":"Acne inversa","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008788","label":"Delayed pubic bone ossification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008138","label":"Equinus calcaneus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031250","label":"Lip fissure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100648","label":"Neoplasm of the tongue","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100838","label":"Recurrent cutaneous abscess formation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012844","label":"Trichilemmoma","frequency":"Very rare (<4-1%)","criteria":null}]}}