0 Chromosome 14

  • Alpha 1 antitrypsin deficiency
  • Familial HOCM
  • Krabbe disease
  • Niemann pick type C (NPC2 gene) (5% cases of type C)


Niemann pick disease

Type A - Chromosome 11
Type B - Chromosome 11
Type C 
  • NPC1 - Chromosome 18
  • NPC2 - Chromosome 14
Approximately 95% of Niemann–Pick Type C cases are caused by genetic mutations in the NPC1 gene, referred to as type C1;
5% are caused by mutations in the NPC2 gene, referred to as type C2.

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