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Results 1 - 5 of 5 for "Sphingomyelin/cholesterol" lipidosis
  1. Niemann-Pick disease 
    ... Neuronal cholesterol lipidosis Neuronal lipidosis NPD Sphingomyelin lipidosis Sphingomyelin/cholesterol lipidosis Sphingomyelinase deficiency Genetic Testing Registry: Niemann-Pick disease, ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  2. NPC2 gene 
    ... the NPC2 gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease is characterized by a buildup of fat within ... feeding problems. The NPC2 gene mutations that cause Niemann-Pick disease type C2 reduce or eliminate NPC2 protein activity, ...
    https://medlineplus.gov/genetics/gene/npc2 - Genetics
  3. NPC1 gene 
    ... the NPC1 gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized by a buildup of fat within ... causing the tissue and organ damage seen in Niemann-Pick disease type C1. More About This Health Condition Niemann- ...
    https://medlineplus.gov/genetics/gene/npc1 - Genetics
  4. SMPD1 gene 
    ... the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann-Pick disease are characterized by a buildup of fat within ...
    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?: ... 
    ... disease , also called neuronal ceroid lipofuscinosis ( PPT1 -related) Niemann-Pick disease Nijmegen breakage syndrome Nonsyndromic hearing loss Pendred syndrome ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics