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Disease Profile

Niemann-Pick disease type B

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.

1-9 / 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)

Niemann Pick disease type B


Congenital and Genetic Diseases; Lung Diseases; Metabolic disorders;


Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain.[1][2] Signs and symptoms typically develop in the pre-teen years and may include enlarged liver and spleen (hepatosplenomegaly), short stature, problems with lung function including frequent lung infections, and a low number of platelets in the blood (thrombocytopenia).[1][2][3] Niemann-Pick disease type B is caused by changes (mutations or variants) in the SMPD1 gene. It is inherited in an autosomal recessive fashion.[1] Treatment is aimed at addressing the symptoms present in each individual. Bone marrow transplantation has been attempted in a few individuals. Researchers are working to develop additional options for treatment, including enzyme replacement and gene therapy.[2][3]


The age of onset and rate of disease progression varies greatly among people with Niemann-Pick disease type B (NPD type B), but survival into adulthood is common.[4] Signs and symptoms usually begin in early childhood but sometimes do not appear until adulthood. Signs and symptoms may include:[4][5]

  • An enlarged liver and spleen (hepatosplenomegaly) This is the most common first sign of the disease, and enlargement may be mild or profound. The spleen may become progressively overactive (hypersplenism), and rarely, liver failure requires liver transplantation. 
  • Lipid abnormalities Triglycerides and LDL cholesterol are often elevated, while HDL cholesterol is often low. This may cause early coronary artery disease.
  • Thrombocytopenia (low blood platelet count) and leukopenia (low white blood cell count) These typically worsen over time.
  • Gradual worsening of lung function Some people do not have impaired lung function while others are oxygen-dependent and have severe activity restrictions. 
  • Growth restriction and delayed bone age, which can result in significant short stature in adulthood
  • Bone and joint pain
  • Osteopenia (low bone mass) or osteoporosis, which can lead to an increased risk for fractures
  • Delayed onset of puberty (often by several years)
  • Tiredness (fatigue)
  • A reddish-brown "halo" surrounding the macula in the eyes or a distinct cherry red spot identified on an eye exam

People with NPD type B usually do not have neurologic symptoms. However, some people with a more severe variant have greater severity of the symptoms above, as well as neurologic features such as ataxia, gross motor delays, learning difficulties, intellectual disabilities, psychiatric disorders, and/or nystagmus. When present, it is uncommon for neurologic features to be progressive or severe.[4][5]

Of note, NPD type B differs significantly from NPD type A (a more severe, early-onset form of NPD), in which symptoms appear in early infancy, development does not progress beyond the 12-month level, and survival beyond age three is uncommon.[5]

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
Abnormal blood gas level
Abnormal pulmonary Interstitial morphology
Abnormality in area between air sacs in lung
Cherry red spot of the macula
Decreased HDL cholesterol concentration
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol

[ more ]

Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

Enlarged liver
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides

[ more ]

Increased LDL cholesterol concentration
Increased circulating LDL level
Increased LDL cholesterol

[ more ]

Progressive pulmonary function impairment
Short stature
Decreased body height
Small stature

[ more ]

Increased spleen size
5%-29% of people have these symptoms
Decreased serum insulin-like growth factor 1
Delayed gross motor development
Delayed motor skills
Peripheral neuropathy
Respiratory failure requiring assisted ventilation
1%-4% of people have these symptoms
Abnormal bleeding
Bleeding tendency
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly

[ more ]

Abnormal heart valve morphology
Acute promyelocytic leukemia
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

Autoimmune thrombocytopenia
Bipolar affective disorder
Bipolar disorder
Scar tissue replaces healthy tissue in the liver
Coronary artery atherosclerosis
Plaque build-up in arteries supplying blood to heart
Generalized non-motor (absence) seizure
Brief seizures with staring spells
Hepatic failure
Liver failure
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific

[ more ]

Neoplasm of the liver
Liver cancer
Liver tumor

[ more ]

Involuntary, rapid, rhythmic eye movements
Pathologic fracture
Spontaneous fracture
Specific learning disability
Systemic lupus erythematosus
Percent of people who have these symptoms is not available through HPO
Abnormal macular morphology
Autosomal recessive inheritance
Bone-marrow foam cells
Diffuse reticular or finely nodular infiltrations
Trouble breathing
Foam cells with lamellar inclusion bodies
Juvenile onset
Signs and symptoms begin before 15 years of age
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

Sea-blue histiocytosis


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.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    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.


      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

        • 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 B. 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.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
          • 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 B. Click on the link to view a sample search on this topic.

            Selected Full-Text Journal Articles


              1. Niemann-Pick disease. MedlinePlus Genetics. January 2016; https://medlineplus.gov/genetics/condition/niemann-pick-disease/.
              2. Haldeman-Englert C, Zieve D. Niemann-Pick disease. MedlinePlus. November 25, 2014; https://medlineplus.gov/ency/article/001207.htm.
              3. NINDS Niemann-Pick Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 22, 2016; https://www.ninds.nih.gov/disorders/niemann/niemann.htm.
              4. Desnick RJ, Schuchman EH. Types A and B Niemann-Pick Disease. Mol Genet Metab. January-February, 2017; 120(1-2):27-33. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347465/.
              5. Wasserstein MP, Schuchman EH. Acid Sphingomyelinase Deficiency. GeneReviews. June 18, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1370/.

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