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Niemann–Pick disease, SMPD1-associated : ウィキペディア英語版 | Niemann–Pick disease, SMPD1-associated
Niemann–Pick disease, SMPD1-associated refers to two different types of Niemann–Pick disease which are associated with the SMPD1 gene. There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form. Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B. ==Type A== Niemann–Pick Type A, the most common type, occurs in infants and is characterized by jaundice, an enlarged liver, failure to thrive, progressive deterioration of the nervous system and profound brain damage. Children affected by Niemann Pick Type A rarely live beyond 18 months. Niemann–Pick Type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in other ethnicities. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is 1 in 250,000 people.
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