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 B

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]
Last updated: 7/19/2016
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]
Last updated: 1/24/2019

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.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal blood gas level 0012415
Cherry red spot of the macula 0010729
Decreased HDL cholesterol concentration
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ] 		0003233
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Hepatomegaly
Enlarged liver
0002240
Hypersplenism 0001971
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] 		0002155
Increased LDL cholesterol concentration
Increased circulating LDL level
Increased LDL cholesterol
[ more ] 		0003141
Interstitial pulmonary abnormality
Abnormality in area between air sacs in lung
0006530
Osteopenia 0000938
Osteoporosis 0000939
Progressive pulmonary function impairment 0006520
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Decreased serum insulin-like growth factor 1 0030353
Delayed gross motor development
Delayed motor skills
0002194
Peripheral neuropathy 0009830
Respiratory failure requiring assisted ventilation 0004887
1%-4% of people have these symptoms
Abnormal bleeding
Bleeding tendency
0001892
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] 		0001317
Abnormal heart valve morphology 0001654
Acute promyelocytic leukemia 0004836
Apraxia 0002186
Ataxia 0001251
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Autoimmune thrombocytopenia 0001973
Bipolar affective disorder
Bipolar disorder
0007302
Cholelithiasis
Gallstones
0001081
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Coronary artery atherosclerosis
Plaque build-up in arteries supplying blood to heart
0001677
Depressivity
Depression
0000716
Generalized non-motor (absence) seizure
Brief seizures with staring spells
0002121
Hepatic failure
Liver failure
0001399
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Neoplasm of the liver
Liver cancer
Liver tumor
[ more ] 		0002896
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Pathologic fracture
Spontaneous fracture
0002756
Specific learning disability 0001328
Systemic lupus erythematosus 0002725
Percent of people who have these symptoms is not available through HPO
Abnormal macular morphology 0001103
Autosomal recessive inheritance 0000007
Bone-marrow foam cells 0004333
Diffuse reticular or finely nodular infiltrations 0002207
Dyspnea
Trouble breathing
0002094
Foam cells with lamellar inclusion bodies 0003609
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Sea-blue histiocytosis 0001982
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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.

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.

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 B. 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.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

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 B. 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 B:
    International Niemann-Pick Disease Registry (INPDR)
     

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

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

  • Genetics Home Reference (GHR) contains information on Niemann-Pick disease type B. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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

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

  • I have Niemann-Pick disease type B. I have always had trouble with cellulite, even in childhood. Are these conditions related? See answer


  1. Niemann-Pick disease. Genetics Home Reference. January 2016; http://www.ghr.nlm.nih.gov/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; http://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/.