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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
Age of onset
Childhood
ICD-10
E75.2
Inheritance
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.
X-linked
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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
Categories
Congenital and Genetic Diseases; Lung Diseases; Metabolic disorders;
Summary
Niemann-Pick disease type B is an
Symptoms
- 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 bloodplatelet count) and leukopenia (lowwhite 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
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:
HPO ID
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal blood gas level | 0012415 | |
| Abnormal pulmonary Interstitial morphology |
Abnormality in area between air sacs in lung
|
0006530 |
| 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 |
| 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 |
| 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) |
Brief seizures with staring spells
|
0002121 |
| Hepatic failure |
Liver failure
|
0001399 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
|
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 | |
| 0000007 | ||
| Bone-marrow foam |
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 | |
Diagnosis
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.
Organizations
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
-
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org -
National Niemann-Pick Disease Foundation, Inc.
P.O. Box 49
401 Madison Avenue, Suite B
Ft. Atkinson, WI 53538
Toll-free: 877-CURE-NPC (287-3672)
Telephone: 920-563-0930
Fax: 920-563-0931
E-mail: nnpdf@nnpdf.org
Website: https://www.nnpdf.org
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
- McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics. 2008 Aug;122(2):e341-9. Epub 2008 Jul 14.
- Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R, Mengel E, Cox GF, McGovern MM. Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology. 2006 Jan;238(1):339-45. Epub 2005 Nov 22.
- Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics. 2004 Dec;114(6):e672-7.
References
- Niemann-Pick disease. MedlinePlus Genetics. January 2016; https://medlineplus.gov/genetics/condition/niemann-pick-disease/.
- Haldeman-Englert C, Zieve D. Niemann-Pick disease. MedlinePlus. November 25, 2014; https://medlineplus.gov/ency/article/001207.htm.
- 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.
- 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/.
- Wasserstein MP, Schuchman EH. Acid Sphingomyelinase Deficiency. GeneReviews. June 18, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1370/.
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