Type | OMIM | Gene (chromosome); all are autosomal recessive | Clinical features |
Niemann-Pick disease type A | 257200 | SMPD1 (11p15.4-p15.1) | Onset in first months of life; hepatosplenomegaly, interstitial lung disease, feeding difficulty, loss of early motor skills, rapidly progressive loss of neurologic function, peripheral neuropathy, macular cherry red spot. Death, typically from respiratory failure, occurs by age two or three years. Diagnosis confirmed when residual acid sphingomyelinase activity is <10% of control. |
Niemann-Pick disease type B | 607616 | SMPD1 (11p15.4-p15.1) | Onset in infancy or childhood; hepatosplenomegaly, thrombocytopenia, short stature with delayed skeletal maturation, interstitial lung disease, hyperlipidemia, ocular abnormalities. Neurologic abnormalities (cerebellar signs, nystagmus, extrapyramidal involvement, intellectual disability, psychiatric disorders, and peripheral neuropathy) occur in about 30%. Generally less severe than NPD-A, with most affected patients surviving into adulthood. Diagnosis confirmed when residual acid sphingomyelinase activity is <10% of control. |
Niemann-Pick disease type C | 257220 607625 | NPC1 (18q11-q12) NPC2 (14q24.3) | Wide phenotypic spectrum. Onset ranges from in utero to infancy, childhood, or adulthood.
Diagnosis confirmed by impaired LDL cholesterol esterification and positive filipin staining in cultured skin fibroblasts. |
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