Chromosome 14

CHROMOSOME 14 :

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

Note: 

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.