{"orpha":664511,"name":"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Early-onset severe Hermansky-Pudlak syndrome with deafness","Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency","Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency","HPS10","Hermansky-Pudlak syndrome type 10"],"definition":null,"note":"This disease is described under Hermansky-Pudlak syndrome due to AP-3 deficiency","url":"https://raremap.alftech.space/d/ORPHA-664511/","orphanet_url":"https://www.orpha.net/en/disease/detail/664511","names":{"fr":{"name":"Syndrome de Hermansky-Pudlak sévère à début précoce avec surdité par déficit en AP3D1","synonyms":["HPS10","SHP10","Syndrome de Hermansky-Pudlak avec neutropénie et surdité par déficit en AP3D1","Syndrome de Hermansky-Pudlak sévère à début précoce avec surdité par déficit en protéine adaptator-related protein complex 3 subunit delta1"]},"de":{"name":"Früh einsetzendes schweres Hermansky-Pudlak-Syndrom mit Hörverlust durch AP3D1-Genmutation","synonyms":["Früh einsetzendes schweres Hermansky-Pudlak-Syndrom mit Neutropenie und Hörverlust durch AP3D1-Genmutation","Früh einsetzendes schweres Hermansky-Pudlak-Syndrom mit Schwerhörigkeit","HSP10","Hermansky-Pudlak-Syndrom Typ 10","Hermansky-Pudlak-Syndrom aufgrund eines Mangels der delta 1-Untereinheit des Adaptorprotein-Komplex 3"]},"es":{"name":"Síndrome de Hermansky-Pudlak grave de inicio precoz con hipoacusia por deficiencia de AP3D1","synonyms":["HSP10","Síndrome de Hermansky-Pudlak grave de inicio precoz con hipoacusia por deficiencia de la subunidad delta 1 del complejo adaptador 3","Síndrome de Hermansky-Pudlak grave de inicio precoz con neutropenia e hipoacusia por deficiencia de AP3D1","Síndrome de Hermansky-Pudlak grave de inicio precoz con sordera","Síndrome de Hermansky-Pudlak tipo 10"]},"it":{"name":"Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità da deficit di AP3D1","synonyms":["Sindrome di Hermansky-Pudlak grave ad esordio precoce con neutropenia e sordità da deficit di AP3D1","Sindrome di Hermansky-Pudlak grave ad esordio precoce con sorditÃ","Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità da deficit della subunità delta 1 del complesso 3 della proteina correlata all'adattatore","SHP10","Sindrome di Hermansky-Pudlak grave ad esordio precoce con neutropenia e sordità da deficit di AP3D1","Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità","Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità da deficit della subunità delta 1 del complesso 3 della proteina correlata all'adattatore","Sindrome di Hermansky-Pudlak tipo 10"]},"nl":{"name":"Vroeg optredend ernstig syndroom van Hermansky-Pudlak met gehoorverlies door AP3D1-deficiëntie","synonyms":["HSP10","Syndroom van Hermansky-Pudlak type 10","Vroeg optredend ernstig syndroom van Hermansky-Pudlak met doofheid","Vroeg optredend ernstig syndroom van Hermansky-Pudlak met gehoorverlies door deficiëntie van adaptatorgerelateerd proteïnecomplex 3 subeenheid delta 1","Vroeg optredend ernstig syndroom van Hermansky-Pudlak met neutropenie en gehoorverlies door AP3D1-deficiëntie"]},"pt":{"name":"Síndrome Hermansky-Pudlak grave de início precoce com perda auditiva, devido a deficiência AP3D1","synonyms":["Síndrome Hermansky-Pudlak grave de início precoce com neutropenia e perda auditiva por deficiência AP3D1","Síndrome Hermansky-Pudlak grave de início precoce com perda auditiva devido ao adaptador relacionado com a subunidade beta1 do complexo proteico 3","Síndrome Hermansky-Pudlak grave de início precoce com surdez","Síndrome Hermansky-Pudlak tipo 10","HSP10"]},"pl":{"name":"Ciężki zespół Hermansky'ego-Pudlaka o wczesnym początku z utratą słuchu spowodowany niedoborem AP3D1","synonyms":["Early-onset severe Hermansky-Pudlak syndrome with deafness","Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency","Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency","HPS10","Hermansky-Pudlak syndrome type 10"]},"cs":{"name":"Závažná forma Heřmanského-Pudlákova syndromu s časným nástupem a se ztrátou sluchu způsobená deficitem AP3D1","synonyms":["Early-onset severe Hermansky-Pudlak syndrome with deafness","Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency","Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency","HPS10","Hermansky-Pudlak syndrome type 10"]},"uk":{"name":"Синдром Германського-Пудлака з раннім початком і втратою слуху, зумовлений дефіцитом AP3D1","synonyms":["Синдром Германського-Пудлака з глухотою, що починається на ранніх стадіях і супроводжується глухотою","Ранній початок тяжкого синдрому Германського-Пудлака з втратою слуху внаслідок дефіциту адаптерного білкового комплексу 3 субодиниці дельта 1","Ранній важкий синдром Германського-Пудлака з нейтропенією та втратою слуху внаслідок дефіциту AP3D1","Синдром Германського-Пудлака, тип 10","HPS10"]}},"xrefs":[{"source":"MONDO","code":"0014885","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310746","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183678,"name":"Hermansky-Pudlak syndrome due to AP-3 deficiency","classifications":[150,152,156,187,189,194,195,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AP3D1","name":"adaptor related protein complex 3 subunit delta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36445457[PMID]","hgnc":"568","ensembl":"ENSG00000065000","omim":"607246","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}