{"orpha":77292,"name":"Infantile neurovisceral acid sphingomyelinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Infantile neurovisceral ASMD","NPD-A","Niemann-Pick disease type A"],"definition":"A rare, autosomal recessive, acid sphingomyelinase deficiency characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, interstitial lung disease and rapidly progressive neurodegenerative disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77292/","orphanet_url":"https://www.orpha.net/en/disease/detail/77292","names":{"fr":{"name":"Déficit en sphingomyélinase acide, forme neuroviscérale infantile","synonyms":["ASMD neuroviscérale infantile","Maladie de Niemann-Pick type A"],"definition":"Déficit rare en sphingomyélinase acide à transmission autosomique récessive caractérisé sur le plan clinique par l'apparition, pendant la petite enfance ou l'enfance, d'un retard de croissance, d'une hépatosplénomégalie, d'une pneumopathie interstitielle et de troubles neurodégénératifs de progression rapide."},"de":{"name":"Saure Sphingomyelinase-Mangel, infantile Form","synonyms":["Infantile neuroviszerale ASMD","NPD-A","Niemann-Pick-Krankheit Typ A"],"definition":"Eine seltene autosomal-rezessiv vererbte lysosomale Krankheit durch Mangel an Saurer Sphingomyelinase. Sie manifestiert im Säuglings- oder Kleinkindalter mit Gedeihstörung, Hepatosplenomegalie, interstitieller Lungenerkrankung und schnell progredienten neurodegenerativen Störungen."},"es":{"name":"Deficiencia de esfingomielinasa ácida neurovisceral infantil","synonyms":["ASMD neurovisceral infantil","Enfermedad de Niemann-Pick tipo A"],"definition":"Es una deficiencia de esfingomielinasa ácida, poco frecuente y de herencia autosómica recesiva caracterizada clínicamente por un inicio en la lactancia o en la infancia temprana de retraso del crecimiento, hepatoesplenomegalia, enfermedad pulmonar intersticial y trastornos neurodegenerativos rápidamente progresivos."},"it":{"name":"Deficit di sfingomielinasi acida neuroviscerale infantile","synonyms":["ASMD neuroviscerale infantile","Malattia di Niemann-Pick tipo A","NPD-A"],"definition":"La malattia di Niemann-Pick tipo A (NPD-A) è un deficit raro di sfingomielinasi acida, a trasmissione autosomica recessiva, che esordisce in epoca neonatale o nella prima infanzia con ritardo della crescita, epatosplenomegalia, pneumopatia interstiziale e malattie neurodegenerative a progressione rapida."},"nl":{"name":"Infantiele neuroviscerale deficiëntie van zure sfingomyelinase","synonyms":["Infantiele neuroviscerale ASMD","NPD-A","Ziekte van Niemann-Pick type A"],"definition":"Een zeldzame autosomaal recessieve, chronische deficiëntie van zure sfingomyelinase, klinisch gekenmerkt door aanvang in de zuigelingentijd of vroege kindertijd van niet-gedijen, hepatosplenomegalie, interstitiële longziekte, en snel progressieve neurodegeneratieve aandoeningen."},"pt":{"name":"Deficiência de esfingomielinase ácida neurovisceral da infância","synonyms":["ASMD neurovisceral da infância","Doença de Niemann-Pick tipo A"]},"pl":{"name":"Choroba Niemanna i Picka typu A","synonyms":["Niemowlęcy niedobór kwaśnej sfingomielinazy nerwowo-trzewnej"]},"cs":{"name":"Infantilní neuroviscerální deficit kyselé sfingomyelinázy","synonyms":["Niemann-Pickova choroba, typ A"]},"uk":{"name":"Дефіцит нейровісцеральної кислої сфінгомієлінази у новонароджених","synonyms":["Інфантильний нейровісцеральний ASMD","Хвороба Німана-Піка, тип А","NPD-A"],"definition":"A rare, autosomal recessive, acid sphingomyelinase deficiency characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, interstitial lung disease and rapidly progressive neurodegenerative disorders."},"zh":{"name":"尼曼-匹克病A型"},"tr":{"name":"Niemann-Pick hastalığı tip A"}},"xrefs":[{"source":"OMIM","code":"257200","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":"530611243"},{"source":"MONDO","code":"0009756","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D052536","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268242","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7206","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":618899,"name":"Acid sphingomyelinase deficiency","classifications":[150,156,183,184,233]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":371442,"name":"Sphingolipidosis with epilepsy","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":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-03-06","source":"20301544[PMID]_40414757[PMID]_32714837[PMID]","terms":[{"hpo":"HP:0034300","label":"Decreased acid sphingomyelinase activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:6000292","label":"Elevated tissue sphingomyelin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007281","label":"Developmental stagnation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006583","label":"Fatal liver failure in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003609","label":"Foam cells with lamellar inclusion bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}