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Disease Profile

Niemann-Pick disease type A

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Sphingomyelin lipidosis; Sphingomyelinase deficiency


Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;


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]


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.

Medical Terms Other Names
Learn More:
30%-79% of people have these symptoms
Cherry red spot of the macula
Percent of people who have these symptoms is not available through HPO
Involuntary writhing movements in fingers, hands, toes, and feet
Autosomal recessive inheritance
Bone-marrow foam cells
Diffuse reticular or finely nodular infiltrations
Failure to thrive
Faltering weight
Weight faltering

[ more ]

Feeding difficulties in infancy
Foam cells with lamellar inclusion bodies
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

Global developmental delay
Enlarged liver
Decreased reflex response
Decreased reflexes

[ more ]

Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific

[ more ]

Swollen lymph nodes
Microcytic anemia
Muscle weakness
Muscular weakness
Muscular hypotonia
Low or weak muscle tone
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

Psychomotor retardation
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

Muscle rigidity
Sea-blue histiocytosis
Short stature
Decreased body height
Small stature

[ more ]

Involuntary muscle stiffness, contraction, or spasm
Increased spleen size
Throwing up
Yellow bumps of fatty deposits on skin


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.


    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

      Learn more

      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

      • The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • MedlinePlus Genetics contains information on Niemann-Pick disease type A. This website is maintained by the National Library of Medicine.
      • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        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.


          1. Niemann-Pick disease. MedlinePlus Genetics. January 2008; https://medlineplus.gov/genetics/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; https://www.ninds.nih.gov/disorders/niemann/niemann.htm. Accessed 4/17/2014.
          3. Niemann Pick Disease. National Organization for Rare Disorders (NORD). 2006; https://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.. https://www.nnpdf.org/npdisease_07.html. Accessed 4/17/2014.

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