Niemann-pick type c

Since Niemann-Pick disease type C (including types C1 and C2) is a genetic condition, the gene changes (“mutations”) that cause it can be passed down from one family member to the next. This means that if someone in the family is diagnosed with Niemann-Pick disease type C, other blood relatives have a chance of having one of the same gene changes identified in the affected person. Any blood relative can be tested to see if they have one of the same changes. This is called "carrier testing". The closer related you are to a person with Niemann-Pick disease type C, the higher your chances of being a carrier. For example, this means that the sister of a person with Niemann-Pick disease type C has a greater chance of being a carrier than a cousin. It is important to know that being a carrier for a genetic condition does not mean you will develop the disease. It only means you are at a higher chance for having an affected child if your partner is also a carrier for the same disease.

To find a genetic counselor near you who can discuss carrier testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

Niemann-Pick disease type C1 is much more common than type C2. Type C1 accounts for about 95% of cases of Niemann-Pick disease type C. Only about 20 people have been reported to have type C2.

You can start finding other people with Niemann-Pick disease type C by contacting the support organizations for this condition:

A doctor should consider Niemann-Pick disease type C if the patient has a combination of the following symptoms:

Niemann-Pick disease type C is abbreviated as NPC. Type C1 is abbreviated as NPC1 and type C2 as NPC2.

Niemann-Pick disease types C1 and D are the same condition. Originally, type D was used to described the condition in a group of people from Nova Scotia, but it was later determined to be the same condition as type C1 and not a unique subtype.

Niemann-Pick disease type C (including types C1 and C2) is a genetic condition that affects many of the organs in the body. It is caused by a buildup of fats (especially cholesterol) inside the cells in the body, which then cause damage to the body’s organs. Specifically, the cell is not able to move fats around to the proper places, and so the cell doesn’t work properly. Niemann-Pick disease type C1 is caused by changes ("mutations") in the NPC1 gene. Niemann-Pick disease type C2 is caused by changes ("mutations") in the NPC2 gene. The main symptoms of this condition include muscle and movement problems, liver disease, lung disease, and brain issues (which can lead to a decrease in intellectual abilities, seizures, and/or psychiatric illness).

Health problems associated with Niemann-Pick disease type C (including types C1 and C2) are:

Niemann-Pick disease type C1 is caused by changes ("mutations") in the NPC1 gene. Niemann-Pick disease type C2 is caused by changes ("mutations") in the NPC2 gene. When there are mutations in the NPC1 or NPC2 gene, it stops the body from making a protein that is needed to help move fats around inside the cells. This causes fats, like cholesterol, to build up in the wrong places in the cell. This prevents the cell from doing many of its normal jobs because the parts of the cell that really need those fats cannot get them when they are in the wrong place. The fat build-up in the wrong places eventually leads to the death of that cell. When lots of cells are dying, the organs are damaged and symptoms of Niemann-Pick disease type C start to show.

Niemann-Pick disease type C1 is caused by changes ("mutations") in the NPC1 gene. Niemann-Pick disease type C2 is caused by changes ("mutations") in the NPC2 gene. Although some mutations have been found in multiple families, most people with NPC1 have mutations that are unique to their family. This is mainly true for NPC2 also, although the E20X mutation is seen in 34% of mutant NPC2 genes.

The genes in our body are like recipes that tell the body how to make things. Sometimes, there are spelling mistakes in these genes. Some spelling mistakes are known to cause the gene to not work properly, while other spelling mistakes do not affect the gene at all (or only a little bit). A "variant of unknown signficance" is a genetic spelling difference that has never been seen before or is not understood very well. Which is why they are often called a "variant of uncertain significance". If you have inherited a "variant of uncertain significance" in the NPC1 or NPC2 gene, it means that there is a difference in how your gene is spelled, but that we don’t yet know if this difference makes the gene work less or if it is just the way your gene is normally spelled.

Since the Niemann-Pick disease type C is caused by spelling changes in both copies of a gene, it is possible to see someone who has one variant and one known mutation, or even someone with 2 variants. If this person is having symptoms of Niemann-Pick disease type C, it makes it more likely that the variants are spelling differences that make the gene work less and are possibly mutations (disease causing). If they are not having symptoms, it makes it more likely that this is just a normal spelling difference and is benign (not causing disease).

People with Niemann-Pick disease type C (including types C1 and C2) usually have problems coordinating their movement (also known as ataxia), difficulty moving their eyes up and down, muscle problems (dystonia), liver disease, and lung disease. They also have problems with speaking and swallowing, so eating can become difficult for these people over time. Most people with Niemann-Pick disease type C will have a progressive decline in their intellectual abilities and may have seizures, dementia, and psychiatric disorders.

The usual symptoms in newborns are a fluid buildup in the belly (known as ascites), severe liver disease, and breathing problems. Sometimes, the first symptoms in a baby might be low muscle tone (hypotonia) and developmental delays.

If a child is starting to have symptoms of Niemann-Pick disease type C, the usual symptoms are difficulties coordinating movement (ataxia), difficulty moving eyes up and down, and trouble remembering things. They usually also have differences in the muscle tone (dystonia), seizures, difficulty speaking, and difficulty swallowing.

If an adult is starting to have symptoms of Niemann-Pick disease type C, the usual symptoms are difficulty remembering things (dementia) and psychiatric symptoms (such as major depression or schizophrenia).

Niemann-Pick disease type C (including types C1 and C2) has complete penetrance, which means that everyone with changes (“mutations”) in the NPC1 or NPC2 genes will have some symptoms. However, this disease has variable expression, which means that different people with the disease can have very different symptoms. This is why some people with Niemann-Pick develop serious symptoms early in life, while some people don’t have any symptoms until adulthood.

There is no cure for Niemann-Pick disease type C (either type C1 or C2). However, there are ways to treat the symptoms as they show up to help patients have the best life possible:

If a pregnancy is known to be at an increased risk of having Niemann-Pick disease type C (NPC), prenatal testing can be done. This is usually done when there is a family history of the condition and genetic testing has already identified the specific changes in the NPC1 or NPC2 gene in the family. Prenatal testing can be done on a placental sample (from a procedure called a chorionic villus sampling) or a sample of the amniotic fluid (from a procedure called an amniocentesis). Preimplantation genetic diagnosis (PGD) in which embryos can be genetically tested is also available.

To find a genetic counselor near you who can discuss prenatal and preconceptual testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

Newborn screening is a state run program that screens babies at birth for certain serious medical conditions. Although there is newborn screening for Niemann-Pick disease types A and B in a few states, there is currently no newborn screening for Niemann-Pick disease type C.

There is more than one way to have genetic testing to help diagnose Niemann-Pick disease type C. The different types include:

There is a lot of ongoing clinical research on Niemann-Pick disease type C. This research is looking into things like treatment of symptoms, preventing further deterioration, and reversing symptoms that have already started.

If you would like to participate in clinical research or learn more about what new research is being done, a good place to start is by visiting www.clinicaltrials.gov and searching for Niemann-Pick disease type C.

Niemann-Pick disease type C is more common in people from Nova Scotia, Canada who also have French-Acadian ancestry. It is also more common in Hispanic people from parts of Colorado and New Mexico, as well as a Bedouin group in Israel.

Changes ("mutations") in the NPC1 or NPC2 gene cause Niemann-Pick disease type C1 and C2, respectively. People with mutations in these genes will have some symptoms of Niemann-Pick disease type C, although the symptoms can be very different in each person with the disease.

If you have Niemann-Pick disease type C (including types C1 and C2), your doctor should continue to evaluate:

Every child of a person with Niemann-Pick Disease type C will be an affected carrier for an NPC1 or NPC2 gene change ("mutation"). If the other parent is a carrier of an NPC1 or NPC2 gene change, then there is a 50% chance that each child will also have Niemann-Pick disease type C. If the other parent also has Niemann-Pick disease type C, then all children will have Niemann-Pick disease.

If the same parents of a child with Niemann-Pick disease type C are having another child, there is a 25% (1 in 4) chance that the child will have Niemann-Pick disease type C. There is a 50% (1 in 2) chance that the child will be a carrier for Niemann-Pick disease type C and a 25% (1 in 4) chance that the child will not have Niemann-Pick disease type C nor be a carrier. These chances are the chances for each and every pregnancy a couple has. In other words, this does not mean that 1 out of 4 of their children will have Niemann-Pick disease type C, but that each child who is born to the couple has a 1 in 4 chance of having Niemann-Pick disease type C.

Most likely you are a carrier. Since Niemann-Pick disease type C is inherited in an autosomal recessive manner, your child likely inherited a change in both copies of the NPC1 or NPC2 gene. That is, both mom’s copy and dad’s copy of the gene have a change. Therefore, both parents of the child are carriers for Niemann-Pick disease type C. There are rare exceptions to this (for example, a change could happen sporadically in the child or the child could have a random mistake that led to the gene to go missing), but these are very uncommon events.

Testing parts of the body other than the blood and skin is not usually needed. Doctors used to test bone marrow, spleen and liver samples to diagnose the condition. However, since the test on skin fibroblasts was discovered, these tests are rarely needed.

People with Niemann-Pick disease type C (including types C1 and C2) who start having symptoms as a child usually pass away around the age of 20. If the person does not have symptoms until adulthood, they can survive much longer.

Niemann-Pick disease type C includes both types C1 and C2 and each is associated with a different gene. Changes/mutations in the NPC1 or NPC2 gene cause Niemann-Pick disease type C1 and C2, respectively. We each typically have 2 copies of both the NPC1 and NPC2 genes, one from our mother and one from our father. We only need 1 copy of both the NPC1 and NPC2 genes to work in order for our cells to work properly. In order to have Niemann-Pick disease type C, both copies of either the NPC1 or NPC2 gene need to have changes or mutations that make that gene not work properly. This is called "autosomal recessive" inheritance. The changes in the two copies of the NPC1 or NPC2 gene can be the same change or different. As long as both changes make the gene work less or not at all, the person will have Niemann-Pick disease type C1 or type C2. Someone who only has 1 change is known as a "carrier". Therefore, the parents of a person with Niemann-Pick disease type C are both carriers of a change in the NPC1 or NPC2 gene.

The genetic testing for Niemann-Pick disease type C is very good at finding changes ("mutations") in the NPC1 and NPC2 genes. Currently, it is able to find about 94% of these changes.

To help support research for Niemann-Pick disease type C, you can consider donating money to one of the multiple support organizations, who fund research, including:

Usually, testing for Niemann-Pick disease type C (including types C1 and C2) is done by looking at how the body can handle fats. This testing is done on fibroblasts, which are a specific type of cell found all over the body. The best way to get fibroblasts for testing is by taking a small piece of the skin. Genetic testing can also be done to look for changes (“mutations”) in the NPC1 or NPC2 genes.

To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website ([link url="” target=”_blank”>www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: [link url="” target=”_blank”>www.nsgc.org.

If you would like to participate in clinical research or learn more about what new research is being done, a good place to start is by visiting www.clinicaltrials.gov and searching for Niemann-Pick disease type C.

The National Niemann-Pick Disease Foundation (http://www.nnpdf.org/) has a list of organizations that are very active in research and treatment of Niemann-Pick disease type C. Visit their website to get started finding a center of excellence near you.

Niemann-Pick disease type C occurs in about 1 in 90,000 to 1 in 150,000 people. Most of these cases are for type C1, as only about 20 cases of type C2 have been reported.

It depends upon which test is being performed. For genetic testing, a blood or saliva test is used. However, the biochemical testing for Niemann-Pick disease type C needs to be performed on a sample of fibroblasts, which usually means a skin biopsy is needed.

While nothing is known that can make Niemann-Pick disease type C (including types C1 and C2) progress faster, there are certain things that can make some symptoms worse, including:

Other names for Niemann-Pick disease type C (including types C1 and C2) are listed:

No, all forms of Niemann-Pick disease type C (includes type C1 and C2) are genetic. They are caused by genetic mutations in either the NPC1 or NPC2 genes.

Niemann-Pick disease type C can present at various times during the person’s life. Some people will start having symptoms shortly after birth, while others won’t have symptoms until mid to late childhood. The typical age of onset is in mid to late childhood. Other people will not have symptoms until they are adults.

There are multiple other diseases that look a lot like Niemann-Pick disease type C, including:

There are multiple support organizations that can be helpful for people with Niemann-Pick disease, including:

One symptoms of Niemann-Pick disease type C that is very characteristic of the condition is having difficulty looking up and down.