{"orpha":167,"name":"Chédiak-Higashi syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chédiak-Higashi disease","Chédiak-Higashi-Steinbrink syndrome"],"definition":"Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-167/","orphanet_url":"https://www.orpha.net/en/disease/detail/167","names":{"fr":{"name":"Syndrome de Chédiak-Higashi","synonyms":["Maladie de Chédiak-Higashi","Syndrome de Chédiak-Higashi-Steinbrinck"],"definition":"Maladie génétique rare et grave, généralement caractérisée par un albinisme oculocutané partiel (AOC), une immunodéficience sévère, des épisodes hémorragiques de faible intensité, des troubles neurologiques et une maladie lymphoproliférative. Une forme classique à début précoce et une forme atténuée à début tardif (SCH atypique) ont été décrites."},"de":{"name":"Chédiak-Higashi-Syndrom","synonyms":["Chédiak-Higashi-Krankheit","Chédiak-Higashi-Steinbrink-Syndrom"]},"es":{"name":"Síndrome de Chédiak-Higashi","synonyms":["Enfermedad de Chédiak-Higashi","Síndrome de Chédiak-Higashi-Steinbrink"],"definition":"Es un trastorno genético grave y poco frecuente caracterizado generalmente por albinismo oculocutáneo (AOC) parcial, inmunodeficiencia grave, hemorragia leve, disfunción neurológica y trastorno linfoproliferativo. Se han descrito una forma clásica de aparición temprana y una forma atenuada de aparición tardía (SCH atípico)."},"it":{"name":"Sindrome di Chédiak-Higashi","synonyms":["Malattia di Chédiak-Higashi disease","Sindrome di Chédiak-Higashi-Steinbrink"]},"nl":{"name":"Syndroom van Chédiak-Higashi","synonyms":["Syndroom van Chédiak-Higashi-Steinbrink","Ziekte van Chédiak-Higashi"],"definition":"Chédiak-Higashi syndroom (CHS) is een zeldzame ernstige genetische ziekte die doorgaans wordt gekenmerkt door gedeeltelijk oculocutaan albinisme (OCA, zie deze term), ernstige immuundeficiëntie, milde bloedingen, neurologische stoornissen en lymfoproliferatieve aandoening. Een klassieke vroeg beginnende vorm en een zwakkere later beginnende vorm (Atypische CHS; zie deze term) werden beschreven."},"pt":{"name":"Síndrome Chediak-Higashi"},"pl":{"name":"Zespół Chédiaka i Higashiego","synonyms":["Choroba Chédiaka i Higashiego","Zespół Chédiaka, Higashiego i Steinbrinka"],"definition":"Zespół Chédiaka-Higashiego to rzadka, ciężka choroba genetyczna charakteryzująca się częściowym albinizmem oczno-skórnym (OCA, sprawdź to hasło), ciężkim niedoborem odporności, łagodnymi krwawieniami, dysfunkcją neurologiczną i chorobą limfoproliferacyjną. Opisano klasyczną postać o wczesnym początku i postać łagodniejszą, o późniejszym początku (atypowy zespół Chediaka-Higasiego, zobacz to hasło)."},"cs":{"name":"Chédiakův-Higashiho syndrom","synonyms":["Chédiakova-Higashiho nemoc","Chédiakův-Steinbrinkův-Higashiho syndrom","Chédiak-Higashiho syndrom","Chédiak-Higashiho nemoc","Chédiak-Steinbrink-Higashiho syndrom"]},"uk":{"name":"Синдром Чедіака-Хігаші","synonyms":["Хвороба Чедіака-Хігаші","Синдром Чедіака-Хігаші-Штейнбринка"],"definition":"Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described."},"zh":{"name":"ChÚdiak-Higashi综合征","synonyms":["Chédiak-Higashi-Steinbrink综合征"]},"tr":{"name":"Chediak-Higashi sendromu","synonyms":["Chédiak-Higashi hastalığı","Chédiak-Higashi-Steinbrink sendromu"]}},"xrefs":[{"source":"OMIM","code":"214500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EC23.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"880927849"},{"source":"MONDO","code":"0008963","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D002609","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0007965","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6035","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008415","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":98456,"name":"Dense granule disease","classifications":[156,194]},{"orpha":309340,"name":"Disorder of lysosomal-related organelles","classifications":[150,156]},{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":331249,"name":"Primary hemophagocytic lymphohistiocytosis with hypopigmentation","classifications":[156,195,233]},{"orpha":207015,"name":"Rare hereditary disease with peripheral neuropathy","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":284811,"name":"Syndromic oculocutaneous albinism","classifications":[156,187,189]}],"children":[],"genes":[{"symbol":"LYST","name":"lysosomal trafficking regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20368792[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":500.0,"area":"Worldwide","status":"Validated","source":"23541537[PMID]_10527680[PMID]_18043242[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":"2020-03-23","source":"24521565[PMID]_25129365[PMID]_18043242[PMID]_29939658[PMID]","terms":[{"hpo":"HP:0001881","label":"Abnormal leukocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012145","label":"Abnormality of multiple cell lineages in the bone marrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012156","label":"Hemophagocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031408","label":"Increased proportion of CD25+ mast cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001922","label":"Vacuolated lymphocytes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012176","label":"Abnormal natural killer cell morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011869","label":"Abnormal platelet function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011990","label":"Abnormality of neutrophil physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004527","label":"Large clumps of pigment irregularly distributed along hair shaft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007499","label":"Recurrent staphylococcal infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020096","label":"Recurrent streptococcal infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001583","label":"Rotary nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006308","label":"Atrophy of alveolar ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005585","label":"Spotty hyperpigmentation","frequency":"Very rare (<4-1%)","criteria":null}]}}