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Results 1 - 10 of 11 for Pick disease
  1. Niemann-Pick disease 
    Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  2. NPC2 gene 
    ... 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 ... 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 
    ... 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 ... 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 
    ... 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. Frontotemporal dementia with parkinsonism-17 
    ... disorder. DDPAC Disinhibition-dementia-parkinsonism-amytrophy complex Familial Pick's disease FTDP-17 Wilhelmsen-Lynch disease Genetic Testing Registry: ...
    https://medlineplus.gov/...ntotemporal-dementia-with-parkinsonism-17 - Genetics
  6. MAPT gene 
    The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) ...
    https://medlineplus.gov/genetics/gene/mapt - Genetics
  7. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... also called neuronal ceroid lipofuscinosis ( PPT1 -related) Niemann-Pick disease Nijmegen breakage syndrome Nonsyndromic hearing loss Pendred syndrome ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  8. Metachromatic leukodystrophy 
    ... that are described as metachromatic, which means they pick up color differently than surrounding cellular material when ... of the condition. ARSA deficiency Arylsulfatase A deficiency disease Cerebral sclerosis, diffuse, metachromatic form Cerebroside sulphatase deficiency ...
    https://medlineplus.gov/.../condition/metachromatic-leukodystrophy - Genetics
  9. LDLR gene 
    ... surface of many types of cells, where they pick up LDLs circulating in the bloodstream and transport ... are recycled back to the cell surface to pick up more LDLs.Low-density lipoprotein receptors play ...
    https://medlineplus.gov/genetics/gene/ldlr - Genetics
  10. HBA2 gene 
    ... molecules are necessary for red blood cells to pick up oxygen in the lungs and deliver it ... thalassemia tend to be more severe when the disease results from variants in the alpha-globin genes ...
    https://medlineplus.gov/genetics/gene/hba2 - Genetics
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