{"orpha":494444,"name":"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DIAPH1-related sensorineural deafness-thrombocytopenia syndrome"],"definition":"A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494444/","orphanet_url":"https://www.orpha.net/en/disease/detail/494444","names":{"fr":{"name":"Syndrome de surdité neurosensorielle-thrombocytopénie associé à DIAPH1","definition":"Maladie génétique rare caractérisée par une perte auditive neurosensorielle progressive et sévère, apparaissant au cours de la première décennie de la vie, associée à une thrombocytopénie légère, souvent accompagnée d'une augmentation du nombre de plaquettes. La plupart des patients ne présentent pas de tendance significative aux saignements."},"de":{"name":"Sensorineuraler Hörverlust-Thrombozytopenie-Syndrom, DIAPH1-assoziiertes","synonyms":["Sensorineurale Schwerhörigkeit-Thrombozytopenie-Syndrom, DIAPH1-assoziiertes"],"definition":"Eine seltene genetische Erkrankung, die durch eine fortschreitende und schwere Schallempfindungsschwerhörigkeit gekennzeichnet ist, die im ersten Lebensjahrzehnt auftritt und mit einer leichten Thrombozytopenie, häufig mit vergrößerten Blutplättchen, einhergeht. Die meisten Patienten zeigen keine signifikante Blutungsneigung."},"es":{"name":"Síndrome de hipoacusia neurosensorial-trombocitopenia asociado al gen DIAPH1","synonyms":["Síndrome de sordera neurosensorial-trombocitopenia asociado al gen DIAPH1"],"definition":"Enfermedad de base genética poco frecuente, caracterizada por hipoacusia neurosensorial severa y progresiva de inicio en la primera década de la vida, asociada a trombocitopenia leve, a menudo con aumento del volumen plaquetario. La mayoría de pacientes no presenta una tendencia hemorrágica significativa."},"it":{"name":"Sordità neurosensoriale e trombocitopenia correlata a DIAPH1","definition":"Si tratta di una malattia genetica rara caratterizzata da sordità neurosensoriale progressiva e grave ad esordio nella prima decade di vita, associata a trombocitopenia lieve, spesso con ingrossamento delle piastrine. La maggior parte dei pazienti non presenta una tendenza significativa alle emorragie."},"nl":{"name":"DIAPH1-gerelateerd sensorineuraal gehoorverlies - trombocytopenie-syndroom","synonyms":["DIAPH1-gerelateerde sensorineurale doofheid - trombocytopenie-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door progressief en ernstig sensorineuraal gehoorverlies met aanvang in het eerste levensdecennium, geassocieerd met milde trombocytopenie, vaak met vergrote trombocyten. De meeste patiënten vertonen geen significante bloedingsneiging."},"pt":{"name":"Síndrome de perda auditiva neurossensorial-trombocitopenia DIAPH1-relacionada"},"pl":{"name":"Zespół niedosłuchu czuciowo-nerwowego i małopłytkowości związany z DIAPH1","synonyms":["DIAPH1-related sensorineural deafness-thrombocytopenia syndrome"]},"cs":{"name":"Syndrom zahrnující DIAPH1-vázanou senzorineurální ztrátu sluchu a trombocytopenii","synonyms":["Syndrom zahrnující DIAPH1-vázanou senzorineurální hluchotu a trombocytopenii"]},"uk":{"name":"Повязаний з DIAPH1 синдром сенсоневральної втрати слуху - тромбоцитопенії","synonyms":["Синдром сенсоневральної глухоти і тромбоцитопенії, повязаний з DIAPH1"],"definition":"A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency."},"zh":{"name":"DIAPH1相关的感觉神经性听力减退-血小板减少综合征","synonyms":["DIAPH1相关的感觉神经性耳聋-血小板减少综合征"]},"tr":{"name":"DIAPH1-ilişkili sensörinöral işitme kaybı-trombositopeni sendromu","synonyms":["DIAPH1-ilişkili sensörinöral sağırlık-trombositopeni sendromu"]}},"xrefs":[{"source":"OMIM","code":"124900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0044635","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565121","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852282","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"DIAPH1","name":"diaphanous related formin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26912466[PMID]_27808407[PMID]","hgnc":"2876","ensembl":"ENSG00000131504","omim":"602121","loci":["5q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"27808407[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27808407[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-12-23","source":"28815995[PMID]_27808407[PMID]_26912466[PMID]_34223798[PMID]_32594080[PMID]","terms":[{"hpo":"HP:0011877","label":"Increased mean platelet volume","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006285","label":"Enamel hypomineralization","frequency":"Occasional (29-5%)","criteria":null}]}}