Niemann-Pick disease type B
MeSH: D052537ORPHA: 77293
Overview
a Niemann-Pick disease characterized by visceral involvement only and survival into adulthood: material basis in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Niemann-Pick disease type B, sourced from HPO and Orphanet clinical annotations.
Delayed pubertyOsteopeniaOsteoporosisDecreased liver functionSplenomegalyThrombocytopeniaHypersplenismHypertriglyceridemiaHepatomegalyDelayed skeletal maturationHyperlipidemiaAbnormal circulating lipid concentrationIncreased LDL cholesterol concentrationDecreased HDL cholesterol concentrationShort statureInterstitial pneumonitisProgressive pulmonary function impairmentAbnormal pulmonary interstitial morphologyCherry red spot of the maculaAbnormal blood gas levelAbnormality of the nervous systemDelayed gross motor developmentRespiratory failure requiring assisted ventilationPeripheral neuropathyDecreased circulating serum insulin-like growth factor 1 concentrationNystagmusAtypical behaviorDepressionCholelithiasisIntellectual disabilityAtaxiaAbnormal cerebellum morphologySpecific learning disabilityCirrhosisHepatic failureAbnormal heart valve morphologyCoronary artery atherosclerosisAbnormal bleedingAutoimmune thrombocytopeniaGeneralized non-motor (absence) seizureApraxiaSystemic lupus erythematosusPathologic fractureNeoplasm of the liverAcute promyelocytic leukemiaAttention deficit hyperactivity disorderBipolar affective disorder
Classification & Codes
MeSH Code
D052537Orphanet Code
ORPHA:77293Niemann-Pick disease type B
| MeSH | D052537 |
| Orphanet | ORPHA:77293 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO