{"orpha":77293,"name":"Chronic visceral acid sphingomyelinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chronic visceral ASMD","NPD-B","Niemann-Pick disease type B"],"definition":"A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77293/","orphanet_url":"https://www.orpha.net/en/disease/detail/77293","names":{"fr":{"name":"Déficit en sphingomyélinase acide, forme viscérale chronique","synonyms":["ASMD viscérale chronique","Maladie de Niemann-Pick type B"],"definition":"Déficit rare en sphingomyélinase acide à transmission autosomique récessive caractérisé sur le plan clinique par l'apparition, pendant l'enfance, d'une hépatosplénomégalie, d'un retard de croissance, d'une pneumopathie interstitielle, en l'absence de troubles neurodégénératifs."},"de":{"name":"Saure Sphingomyelinase-Mangel, chronisch-viszerale Form","synonyms":["Chronische viszerale ASMD","NPD-B","Niemann-Pick-Krankheit Typ B"],"definition":"Eine seltene autosomal-rezessiv vererbte chronische lysosomale Krankheit durch Mangel an Saurer Sphingomyelinase. Sie manifestiert im Kindesalter mit Hepatosplenomegalie, Wachstumsverzögerung und interstitieller Lungenerkrankung. Neurodegenerativen Störungen sind typischerweise nicht assoziiert."},"es":{"name":"Deficiencia de esfingomielinasa ácida visceral crónica","synonyms":["ASMD visceral crónica","Enfermedad de Niemann-Pick tipo B"],"definition":"Es una deficiencia autosómica recesiva poco frecuente de esfingomielinasa ácida caracterizada clínicamente por un inicio en la infancia con hepatoesplenomegalia, retraso del crecimiento, enfermedad pulmonar intersticial y ausencia de trastornos neurodegenerativos ."},"it":{"name":"Deficit cronico di sfingomielinasi acida viscerale","synonyms":["ASMD viscerale cronico","Malattia di Niemann-Pick tipo B","NPD-B"],"definition":"La malattia di Niemann-Pick tipo B (NPD-B) è un deficit cronico raro di sfingomielinasi acida, a trasmissione autosomica recessiva, che esordisce durante l'infanzia con epatosplenomegalia, ritardo della crescita e pneumopatia interstiziale,La malattia di Niemann-Pick tipo B (NPD-B) è un deficit cronico raro di sfingomielinasi acida, a trasmissione autosomica recessiva, che esordisce durante l'infanzia con epatosplenomegalia, ritardo della crescita e pneumopatia interstiziale, in assenza di malattie neurodegenerative. in assenza di malattie neurodegenerative."},"nl":{"name":"Chronische viscerale deficiëntie van zure sfingomyelinase","synonyms":["Chronische viscerale ASMD","NPD-B","Ziekte van Niemann-Pick type B"],"definition":"Een zeldzame autosomaal recessieve, chronische deficiëntie van zure sfingomyelinase, klinisch gekenmerkt door aanvang in de kindertijd van hepatosplenomegalie, groeiretardatie, interstitiële longziekte, en afwezigheid van neurodegeneratieve aandoeningen."},"pt":{"name":"Deficiência de esfingomielinase ácida visceral crónica","synonyms":["ASMD visceral crónica","Doença de Niemann-Pick tipo B"]},"pl":{"name":"Choroba Niemanna i Picka typu B","synonyms":["Przewlekły niedobór kwaśnej sfingomielinazy trzewnej"]},"cs":{"name":"Chronický viscerální deficit kyselé sfingomyelinázy","synonyms":["Niemann-Pickova choroba, typ B"]},"uk":{"name":"Хронічний дефіцит вісцеральної кислої сфінгомієлінази","synonyms":["Хронічний вісцеральний ASMD","Хвороба Німана-Піка, тип В","NPD-B"],"definition":"A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders."},"zh":{"name":"尼曼-匹克病B型"},"tr":{"name":"Niemann-Pick hastalığı tip B"}},"xrefs":[{"source":"OMIM","code":"607616","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"327269975"},{"source":"MONDO","code":"0011871","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D052537","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268243","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10729","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99022,"name":"OBSOLETE: Niemann-Pick disease type E","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":618899,"name":"Acid sphingomyelinase deficiency","classifications":[150,156,183,184,233]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":477811,"name":"Rare hypercholesterolemia","classifications":[150,156,193]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SMPD1","name":"sphingomyelin phosphodiesterase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19405096[PMID]","hgnc":"11120","ensembl":"ENSG00000166311","omim":"607608","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Not yet validated","source":"23412609[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-06","source":"20301544[PMID]_23412609[PMID]","terms":[{"hpo":"HP:0012415","label":"Abnormal blood gas level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003141","label":"Increased LDL cholesterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006515","label":"Interstitial pneumonitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006520","label":"Progressive pulmonary function impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004836","label":"Acute promyelocytic leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Very rare (<4-1%)","criteria":null}]}}