{"orpha":3214,"name":"Deaf blind hypopigmentation syndrome, Yemenite type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Warburg-Thomsen syndrome","Yemenite deaf-blind hypopigmentation syndrome"],"definition":"Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3214/","orphanet_url":"https://www.orpha.net/en/disease/detail/3214","names":{"fr":{"name":"Surdité-cécité-hypopigmentation","synonyms":["Syndrome de Warburg-Thomsen"],"definition":"La surdité-cécité-hypopigmentation est une maladie génétique extrêmement rare caractérisée par des anomalies de pigmentation cutanée, des troubles oculaires et une surdité."},"de":{"name":"Hörverlust-Blindheit-Hypopigmentierung-Syndrom, jemenitischer Typ","synonyms":["Warburg-Thomsen-Syndrom"],"definition":"Eine sehr seltene genetische Störung, die durch Anomalien der Hautpigmentierung, Augenanomalien und frühen Hörverlust gekennzeichnet ist."},"es":{"name":"Síndrome de hipopigmentación con sordera y ceguera, tipo yemení","definition":"Es un trastorno genético extremadamente infrecuente caracterizado por anomalías de la pigmentación cutánea, trastornos oculares y pérdida auditiva."},"it":{"name":"Sindrome da sordità, cecità e ipopigmentazione tipo yemenita","synonyms":["Sindrome di Warburg-Thomsen"],"definition":"La sindrome che associa sordità, cecità e ipopigmentazione tipo yemenita è una malattia genetica molto rara, caratterizzata da anomalie della pigmentazione della cute, disturbi oculari e sordità."},"nl":{"name":"Doofheid - blindheid - hypopigmentatie-syndroom, Jemenitisch type","synonyms":["Syndroom van Warburg-Thomsen"],"definition":"Doofheid - blindheid - hypopigmentatie-syndroom, Jemenitisch type, is een uitzonderlijk zeldzame genetische stoornis die gekarakteriseerd wordt door anomalieën van de huidpigmentatie, oculaire stoornissen en gehoorverlies."},"pt":{"name":"Síndrome de surdez-cegueira-hipopigmentação, tipo Yemenite","synonyms":["Síndrome Warburg-Thomsen","Síndrome de surdez-cegueira-hipopigmentação de Yemenite"]},"pl":{"name":"Zespół głuchoty, ślepoty i hipopigmentacji Jemenitów","synonyms":["Zespół Warburga i Thomsena"]},"cs":{"name":"Syndrom hluchoslepoty s hypopigmentací, jemenský typ","synonyms":["Jemenský syndrom hluchoslepoty s hypopigmentací","Warburgův-Thomsenův syndrom","Warburg-Thomsenův syndrom"]},"uk":{"name":"Синдром глухоти-сліпоти з гіпопігментацією, єменський тип","synonyms":["Синдром Варбурга-Томсена","Синдром глухонімої гіпопігментації у єменців"],"definition":"Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss."},"zh":{"name":"耳聋目盲色素沉着不足综合征Yemenite亚型","synonyms":["也门聋盲性色素减退综合征"]},"tr":{"name":"Sağır kör hipopigmentasyon sendromu, Yemenit tipi","synonyms":["Warburg-Thomsen sendromu","Yemenli sağır-kör hipopigmentasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"601706","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2090985024"},{"source":"MONDO","code":"0011133","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536771","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866425","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5535","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2280978[PMID]"},{"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":"2017-10-11","source":null,"terms":[{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011483","label":"Anterior synechiae of the anterior chamber","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200007","label":"Abnormal size of the palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Occasional (29-5%)","criteria":null}]}}