{"orpha":619363,"name":"NOCARH syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome","Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome"],"definition":"A rare unclassified autoinflammatory syndrome characterized by neonatal onset pancytopenia, type&nbsp;I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and hemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-619363/","orphanet_url":"https://www.orpha.net/en/disease/detail/619363","names":{"fr":{"name":"Syndrome NOCARH","synonyms":["Syndrome de cytopénie-autoinflammation-éruption cutanée-épisodes HLH à début néonatal","Syndrome de cytopénie-autoinflammation-éruption cutanée-épisodes de hémophagocytose lymphohistiocytaire à début néonatal","Syndrome de cytopénie-autoinflammation-éruption cutanée-épisodes de lymphohistiocytose hémophagocytaire à début néonatal"],"definition":"Syndrome auto-inflammatoire rare et non classifié, caractérisé par une pancytopénie d'apparition néonatale, une interféronopathie type&nbsp;I, des éruptions cutanées douloureuses de fréquence variable et une lymphohistiocytose hémophagocytaire. D'autres signes cliniques, à savoir retard de croissance, fièvre, infections gastro-intestinales et des voies respiratoires supérieures, entérocolite, hépatosplénomégalie, myélofibrose et retard du neurodéveloppement, sont courants. Une dysmorphie faciale, à type de macrocéphalie, de front légèrement proéminent, de cheveux clairsemés, d'hypertélorisme discret et de pont nasal déprimé, peut être présente."},"de":{"name":"NOCARH-Syndrom","synonyms":["Autoinflammation-Zytopenie-Gesichtsdysmorphie-Syndrom des Neugeborenen","Neonatales Auftreten von Panzytopenie mit Autoinflammation und Rash-Episoden des HLH-Syndroms"],"definition":"Ein seltenes autoinflammatorisches Syndrom, das durch eine bei Neugeborenen auftretende Panzytopenie, eine Typ-I-Interferon-abhängige multisystemische Autoinflammation, schmerzhafte Hautausschläge mit unterschiedlicher Häufigkeit und hämophagozytische Lymphohistiozytose gekennzeichnet ist. Weitere häufige klinische Merkmale sind Gedeihstörungen, Fieber, Infektionen des Magen-Darm-Trakts/der oberen Atemwege, Enterokolitis, Hepatosplenomegalie, Myelofibrose und eine neurologische Entwicklungsverzögerung. Gesichtsdysmorphien wie Makrozephalie, leicht vorgewölbte Stirn, schütteres Haar, leichter Hypertelorismus und eine flache Nasenwurzel wurden beobachtet."},"es":{"name":"Síndrome NOCARH","synonyms":["Síndrome de citopenia-autoinflamación-erupción-episodios de LHH de inicio neonatal","Síndrome de citopenia-autoinflamación-erupción-episodios de linfohistiocitosis hemofagocítica de inicio neonatal"],"definition":"Es un síndrome autoinflamatorio no clasificado poco frecuente caracterizado por pancitopenia de inicio neonatal, autoinflamación multisistémica mediada por interferón tipo I, exantema doloroso de frecuencia variable y linfohistiocitosis hemofagocítica. Otras características clínicas comunes son fallo de medro, fiebre, infecciones gastrointestinales y de las vías respiratorias superiores, enterocolitis, hepatoesplenomegalia, mielofibrosis y retraso en el desarrollo neurológico. Los pacientes pueden presentar dismorfia facial, que incluye macrocefalia, prominencia frontal leve, cabello escaso, hipertelorismo leve y depresión del puente nasal."},"it":{"name":"Sindrome di NOCARH","synonyms":["Sindrome citopenia ad esordio neonatale-autoinfiammazione-eruzione-episodi di HLH","Malattia autoinfiammatoria multisistemica grave ad esordio neonatale con aumento dell’interleuchina 18","Sindrome citopenia a esordio neonatale-autoinfiammazione-eruzione-episodi di HLH","Sindrome citopenia a esordio neonatale-autoinfiammazione-eruzione-episodi di linfoistiocitosi emofagocitica"]},"nl":{"name":"NOCARH-syndroom","synonyms":["Neonataal optredend cytopenie - auto-inflammatie - episodes van huiduitslag van HLH-syndroom","Neonataal optredend cytopenie - auto-inflammatie - episodes van huiduitslag van hemofagocytaire lymfohistiocytose-syndroom"],"definition":"Een zeldzaam niet-geclassificeerd auto-inflammatoir syndroom, gekenmerkt door neonataal aanvangende pancytopenie, type I interferon-afhankelijke multisystemische auto-inflammatie, pijnlijke huiduitslag met variabele frequenties en hemofagocytaire lymfohistiocytose. Niet-gedijen, koorts, gastro-intestinale infecties/infecties van bovenste luchtwegen, enterocolitis, hepatosplenomegalie, myelofibrose en neurologische ontwikkelingsachterstand zijn andere gangbare klinische kenmerken. Faciale dysmorfie, met onder meer macrocefalie, mild boller voorhoofd, schaars haar, mild hypertelorisme en ingezakte neusbrug, kan aanwezig zijn."},"pt":{"name":"Síndrome NOCARH","synonyms":["Síndrome de citopenia com início neonatal-rash autoinflamatório episódios de linfohistiocitose hemofagocítica","Síndrome de citopenia com início neonatal-rash autoinflamatório-episódios de HLH"]},"pl":{"name":"Ciężka wieloukładowa choroba autozapalna z podwyższonym poziomem IL18 o początku w okresie noworodkowym","synonyms":["Zespół NOCARH"],"definition":"Rzadki, niesklasyfikowany zespół autozapalny, charakteryzujący się noworodkową pancytopenią, wielonarządowym stanem zapalnym zależnym od interferonu typu I, bolesną wysypką o zmiennej częstości występowania i limfohistiocytozą hemofagocytarną. Inne częste objawy kliniczne to brak prawidłowego rozwoju, gorączka, infekcje przewodu pokarmowego/górnych dróg oddechowych, zapalenie jelit, hepatosplenomegalia, mielofibroza i opóźnienie neurorozwojowe. Może wystąpić dysmorfia twarzy, wielkogłowie, łagodne uwypuklenie kości czołowej, rzadkie owłosienie, łagodny hiperteloryzm i obniżony grzbiet nosa."},"cs":{"name":"Novorozenecké těžké multisystémové autoinflamatorní onemocnění se zvýšeným IL18","synonyms":["Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome","Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome"]},"uk":{"name":"Синдром NOCARH","synonyms":["Неонатальна цитопенія - аутозапалення - висип - епізоди синдрому гемофагоцитарного лімфогістіоцитозу","Неонатальна цитопенія - аутозапалення - епізоди висипу - синдром ГЛГ"]}},"xrefs":[{"source":"ICD-10","code":"D76.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.23","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0850065","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925147","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":664482,"name":"Primary hemophagocytic lymphohistiocytosis without hypopigmentation","classifications":[156,195,233]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]},{"orpha":717871,"name":"Rare systemic or rheumatologic disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":324936,"name":"Unclassified autoinflammatory syndrome","classifications":[196]}],"children":[],"genes":[{"symbol":"CDC42","name":"cell division cycle 42","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31271789[PMID]","hgnc":"1736","ensembl":"ENSG00000070831","omim":"116952","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"31271789[PMID]_37741518[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31271789[PMID]_37741518[PMID]_ORPHANET"}],"phenotypes":null}