{"orpha":352723,"name":"Attenuated Chédiak-Higashi syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Atypical Chédiak-Higashi syndrome"],"definition":"A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352723/","orphanet_url":"https://www.orpha.net/en/disease/detail/352723","names":{"fr":{"name":"Syndrome de Chédiak-Higashi atténué","synonyms":["Syndrome de Chédiak-Higashi atypique"],"definition":"Forme très rare et atypique du syndrome de Chédiak-Higashi (SCH), une maladie génétique caractérisée par un albinisme oculocutané partiel, une immunodéficience sévère, des épisodes hémorragiques d'intensité légère, des troubles neurologiques et une maladie lymphoproliférative."},"de":{"name":"Chédiak-Higashi-Syndrom, attenuiertes","synonyms":["Chédiak-Higashi-Syndrom, atypisches"]},"es":{"name":"Síndrome de Chédiak-Higashi atenuado","synonyms":["Síndrome de Chédiak-Higashi atípico"],"definition":"Es una forma muy poco frecuente y atípica del síndrome de Chédiak-Higashi (SCH), un trastorno genético caracterizado por albinismo oculocutáneo parcial, inmunodeficiencia grave, sangrado leve, disfunción neurológica y trastorno linfoproliferativo."},"it":{"name":"Sindrome di Chédiak-Higashi attenuata","synonyms":["Sindrome di Chédiak-Higashi atipica"]},"nl":{"name":"Verzwakt syndroom van Chédiak-Higashi","synonyms":["Atypisch syndroom van Chédiak-Higashi"],"definition":"Een zeer zeldzame en atypische vorm van CHS, een genetische stoornis gekarakteriseerd door partieel oculocutaan albinisme, ernstige immuundeficiëntie, milde bloedingen, neurologische disfunctie en lymfoproliferatieve stoornis."},"pt":{"name":"Síndrome Chédiak-Higashi ligeiro","synonyms":["Síndrome Chédiak-Higashi atípico"]},"pl":{"name":"Atenuowany zespół Chédiaka i Higashiego","synonyms":["Atypowy zespół Chédiaka i Higashiego"]},"cs":{"name":"Atenuovaný Chédiakův-Higashiho syndrom","synonyms":["Atypický Chédiakův-Higashiho syndrom","Atenuovaný Chédiak-Higashiho syndrom","Atypický Chédiak-Higashiho syndrom"]},"uk":{"name":"Полегшений синдром Чедіака-Хігаші","synonyms":["Атиповий синдром Чедіака-Хігаші"],"definition":"A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder."},"zh":{"name":"轻型ChÚdiak-Higashi综合征","synonyms":["非典型ChÚdiak-Higashi综合征"],"definition":"本病是一种非常罕见的非典型形式的ChÚdiak-Higashi综合征。本遗传病以部分眼皮肤白化、严重免疫缺陷、轻度出血、神经功能障碍和淋巴增殖性疾病为特征。"},"tr":{"name":"Zayıflatılmış Chèdiak-Higashi sendromu","synonyms":["Atipik Chédiak-Higashi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018133","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304022","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":207015,"name":"Rare hereditary disease with peripheral neuropathy","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"LYST","name":"lysosomal trafficking regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23521865[PMID]","hgnc":"1968","ensembl":"ENSG00000143669","omim":"606897","loci":["1q42.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Occasional (29-5%)","criteria":null}]}}