Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 5 of 5 for "Niemann-Pick" "disease," type A
  1. NPC2 gene 
    ... the NPC2 gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease is ... feeding problems. The NPC2 gene mutations that cause Niemann-Pick disease type C2 reduce or eliminate NPC2 protein activity, which ...
    https://medlineplus.gov/genetics/gene/npc2 - Genetics
  2. NPC1 gene 
    ... the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is ... causing the tissue and organ damage seen in Niemann-Pick disease type C1. More About This Health Condition Niemann-Pick ...
    https://medlineplus.gov/genetics/gene/npc1 - Genetics
  3. Niemann-Pick disease 
    ... signs and symptoms of the condition.Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen ( ... mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  4. SMPD1 gene 
    ... the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann-Pick ... complete loss of enzyme function tend to cause Niemann-Pick disease type A. In the Ashkenazi (eastern and central European) ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  5. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... called MCAD deficiency Maple syrup urine disease Mucolipidosis type IV CLN5 disease , also called neuronal ceroid lipofuscinosis ( CLN5 -related) CLN1 disease , also called neuronal ceroid lipofuscinosis ( PPT1 -related) Niemann-Pick disease Nijmegen breakage syndrome Nonsyndromic hearing loss Pendred ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics