National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Niemann-Pick disease type A


Other Names:
Sphingomyelin lipidosis; Sphingomyelinase deficiency
Categories:
This disease is grouped under:
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type.[1] There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood.[1][2] Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern.[1] 
Last updated: 4/17/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 30 |
Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Cherry red spot of the macula 0010729
Percent of people who have these symptoms is not available through HPO
Athetosis
Involuntary writhing movements in fingers, hands, toes, and feet
0002305
Autosomal recessive inheritance 0000007
Bone-marrow foam cells 0004333
Constipation 0002019
Diffuse reticular or finely nodular infiltrations 0002207
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Feeding difficulties in infancy 0008872
Foam cells with lamellar inclusion bodies 0003609
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
Hepatomegaly
Enlarged liver
0002240
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Lymphadenopathy
Swollen lymph nodes
0002716
Microcytic anemia 0001935
Muscle weakness
Muscular weakness
0001324
Muscular hypotonia
Low or weak muscle tone
0001252
Osteoporosis 0000939
Protuberant abdomen
Belly sticks out
Extended belly
[ more ] 		0001538
Psychomotor retardation 0025356
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Rigidity
Muscle rigidity
0002063
Sea-blue histiocytosis 0001982
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Splenomegaly
Increased spleen size
0001744
Vomiting
Throwing up
0002013
Xanthomatosis
Yellow bumps of fatty deposits on skin
0000991
Showing of 30 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Newborn Screening

  • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

There is no specific treatment for this disease. Supportive care from the following specialists may be helpful for managing the symptoms:[3][4] 

  • A pulmonologist for respiratory problems
  • A cardiologist for heart problems
  • Liver and spleen specialists
  • Nutritionists
  • Physical therapists
  • A gastroenterologist
  • Learning specialists

You can learn more about ongoing research efforts to better understand the natural history of this condition and identify treatment options in the Research section of our web page.



Last updated: 4/17/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Niemann-Pick disease type A. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Niemann-Pick disease type A. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Niemann-Pick disease type A:
    International Niemann-Pick Disease Registry (INPDR)
     
  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Niemann-Pick disease type A. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My son has been diagnosed with Niemann-Pick disease type A. I would like to know if there is any treatment available for this disease. See answer


  1. Niemann-Pick disease. Genetics Home Reference (GHR). January 2008; http://ghr.nlm.nih.gov/condition/niemann-pick-disease. Accessed 4/17/2014.
  2. NINDS Niemann-Pick Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). October 6, 2011; http://www.ninds.nih.gov/disorders/niemann/niemann.htm. Accessed 4/17/2014.
  3. Niemann Pick Disease. National Organization for Rare Disorders (NORD). 2006; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/93/viewAbstract. Accessed 4/17/2014.
  4. Treatment Options for NPA. National Niemann-Pick Disease Foundation, Inc.. http://www.nnpdf.org/npdisease_07.html. Accessed 4/17/2014.