{"orpha":618891,"name":"Chronic neurovisceral acid sphingomyelinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chronic neurovisceral ASMD","NPD-A/B","Niemann-Pick disease type A/B"],"definition":"A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-618891/","orphanet_url":"https://www.orpha.net/en/disease/detail/618891","names":{"fr":{"name":"Déficit en sphingomyélinase acide, forme neuro-viscérale chronique","synonyms":["ASMD neuro-viscérale chronique","Maladie de Niemann-Pick type A/B"],"definition":"Déficit rare en sphingomyélinase acide caractérisé par une hépatosplénomégalie légère à importante, un hypersplénisme entraînant une thrombocytopénie, une pneumopathie interstitielle, une dyslipidémie et une atteinte du système nerveux central (à type de retard de développement, de déficience intellectuelle et d'ataxie). Des traits faciaux grossiers peuvent être observés chez certains patients."},"de":{"name":"Chronisch neuroviszerale saure Sphingomyelinase-Mangel","synonyms":["Chronisch neuroviszerale ASMD","NPD-A/B","Niemann-Pick-Krankheit Typ A/B"],"definition":"Ein seltener Säuresphingomyelinase-Mangel, der durch leichte bis massive Hepatosplenomegalie, Hypersplenismus mit Thrombozytopenie, interstitielle Lungenerkrankung, Dyslipidämie und Manifestationen des Zentralnervensystems (einschließlich Entwicklungsverzögerung, Intelligenzminderung und Ataxie) gekennzeichnet ist. Einige Betroffene können grobe Gesichtszüge aufweisen."},"es":{"name":"Deficiencia crónica de esfingomielinasa ácida neurovisceral","synonyms":["ASMD crónica neurovisceral","Enfermedad de Niemann-Pick tipo A/B"],"definition":"Es una deficiencia poco frecuente de esfingomielinasa ácida caracterizada por hepatoesplenomegalia de leve a grave, hiperesplenismo que provoca trombocitopenia, enfermedad pulmonar intersticial, dislipidemia y afectación del sistema nervioso central (incluyendo retraso en el desarrollo, discapacidad intelectual y ataxia). Algunos pacientes pueden presentar rasgos faciales toscos."},"it":{"name":"Deficit cronico di sfingomielinasi acida neuroviscerale","synonyms":["ASMD neuroviscerale cronico","Malattia di Niemann-Pick tipo A/B","NPD-A/B"]},"nl":{"name":"Chronische neuroviscerale deficiëntie van zure sfingomyelinase","synonyms":["Chronische neuroviscerale ASMD","NPD-A/B","Ziekte van Niemann-Pick type A/B"],"definition":"Een zeldzame deficiëntie van zure sfingomyelinase, gekenmerkt door milde tot ernstige hepatosplenomegalie, hypersplenisme die leidt tot trombocytopenie, interstitiële longziekte, dyslipidemie en manifestaties van centraal zenuwstelsel (waaronder ontwikkelingsachterstand, intellectuele achterstand en ataxie). Sommige getroffen individuen kunnen grove gelaatskenmerken vertonen."},"pt":{"name":"Deficiência de esfingomielinase ácida neurovisceral crónica","synonyms":["ASMD neurovisceral crónica","Doença Niemann-Pick tipo A/B","NPD-A/B"]},"pl":{"name":"Przewlekły niedobór kwaśnej sfingomielinazy nerwowo-trzewnej","synonyms":["Chronic neurovisceral ASMD","NPD-A/B","Niemann-Pick disease type A/B"],"definition":"Rzadki niedobór kwaśnej sfingomielinazy, charakteryzujący się łagodną lub masywną hepatosplenomegalią, hipersplenizmem prowadzącym do trombocytopenii, śródmiąższową chorobą płuc, dyslipidemią i objawami ze strony ośrodkowego układu nerwowego (w tym opóźnieniem rozwoju, niepełnosprawnością intelektualną i ataksją). U niektórych chorych obserwuje się pogrubienie rysów twarzy."},"cs":{"name":"Chronický neuroviscerální deficit kyselé sfingomyelinázy","synonyms":["Chronic neurovisceral ASMD","NPD-A/B","Niemann-Pick disease type A/B"]},"uk":{"name":"Хронічний нейровісцеральний дефіцит кислої сфінгомієлінази","synonyms":["Хронічний нейровісцеральний АСМД","Хвороба Німана-Піка, тип A/B","NPD-A/B"]}},"xrefs":[{"source":"OMIM","code":"257200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607616","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0850058","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5539139","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":[181]},{"orpha":477811,"name":"Rare hypercholesterolemia","classifications":[150,156,193]},{"orpha":371442,"name":"Sphingolipidosis with epilepsy","classifications":[181]}],"children":[],"genes":[{"symbol":"SMPD1","name":"sphingomyelin phosphodiesterase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15877209[PMID]_28406489[PMID]","hgnc":"11120","ensembl":"ENSG00000166311","omim":"607608","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"20301544[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-03-09","source":"27198631[PMID]_41208004[PMID]_20301544[PMID]","terms":[{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034300","label":"Decreased acid sphingomyelinase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003141","label":"Increased LDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}