{"orpha":2690,"name":"Neutropenia-monocytopenia-deafness syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Neutropenia-monocytopenia-hearing loss syndrome"],"definition":"A rare syndrome characterized by congenital neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. Patients present with severe recurrent bacterial infections that may lead to bacterial septicemia. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2690/","orphanet_url":"https://www.orpha.net/en/disease/detail/2690","names":{"fr":{"name":"Syndrome de neutropénie-monocytopénie-surdité","definition":"Syndrome rare caractérisé par une neutropénie congénitale associée à une hypoplasie médullaire myéloïde, une monocytopénie et une surdité congénitale. Les patients présentent des infections bactériennes récurrentes graves pouvant conduire à une septicémie. Aucun nouveau cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Neutropenie-Monozytopenie-Schwerhörigkeit-Syndrom","definition":"Ein seltenes Syndrom, das durch kongenitale Neutropenie mit Hypoplasie des myeloischen Knochenmarks, Monozytopenie und kongenitale Taubheit gekennzeichnet ist. Die Patienten leiden unter schweren wiederkehrenden bakteriellen Infektionen, die zu einer bakteriellen Septikämie führen können. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de neutropenia-monocitopenia-sordera","synonyms":["Síndrome de neutropenia-monocitopenia-hipoacusia"],"definition":"Es un síndrome poco frecuente caracterizado por neutropenia congénita con hipoplasia mieloide de médula ósea, monocitopenia y sordera congénita. Los pacientes presentan infecciones bacterianas graves y recurrentes que pueden derivar en septicemia bacteriana. No se han descrito más casos en la literatura desde 1983."},"it":{"name":"Neutropenia - monocitopenia - sordità"},"nl":{"name":"Neutropenie - monocytopenie - doofheid-syndroom","synonyms":["Neutropenie - monocytopenie - gehoorverlies-syndroom"],"definition":"Een zeldzaam syndroom, gekenmerkt door congenitale neutropenie met myeloïde hypoplasie van beenmerg, monocytopenie, en congenitale doofheid. Patiënten presenteren zich met ernstige recidiverende bacteriële infecties die kunnen leiden tot bacteriële sepsis. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de neutropenia-monocitopenia-surdez"},"pl":{"name":"Neutropenia - monocytopenia - głuchota","synonyms":["Neutropenia-monocytopenia-hearing loss syndrome"]},"cs":{"name":"Syndrom zahrnující neutropenii, monocytopenii a hluchotu","synonyms":["Neutropenia-monocytopenia-hearing loss syndrome"]},"uk":{"name":"Синдром нейтропенії-моноцитопенії-глухоти","synonyms":["Синдром нейтропенії-моноцитопенії-глухоти"],"definition":"Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections."},"zh":{"name":"中性粒细胞减少-单核细胞减少-耳聋综合征","synonyms":["中性粒细胞减少-单核细胞减少-听力丧失综合征"]},"tr":{"name":"Nötropeni-monositopeni-sağırlık sendromu","synonyms":["Nötropeni-monositopeni-işitme kaybı sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"790636314"},{"source":"MONDO","code":"0017100","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518430","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6604450[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6604450[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004311","label":"Abnormal macrophage morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Frequent (79-30%)","criteria":null}]}}