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Disease Profile
Niemann-Pick disease
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.
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Age of onset
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ICD-10
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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.
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Summary
Niemann-Pick disease (NPD) is a group of
Niemann-Pick disease is divided into four main types according to the altered (
- Type A, caused by mutations in the SMPD1 gene. It is the most severe form, occurs in early infancy and is seen primarily in Jewish families.
- Type B , caused by mutations in the SMPD1 gene. Usually occurs in children, and affects the liver, spleen and lungs (visceral form), but generally does not affect the brain.
- Type C1, caused by mutations in the NPC1 gene. May occur at any age and affect the brain and the viscera.
- Type C2, caused by
homozygous mutation in the NPC2 gene. Similar to type C1, but more severe, and mostly affecting the lungs.
Some classify type A and B as "acid sphingomyelinase (ASM) deficiency".[4] NP type D is now considered as type C (when affected people are from Nova Scotia, Canada); other rarer types have being described.[3][2]
There is currently no effective treatment for type A.
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.
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.
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.
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
References
- NINDS Niemann-Pick Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Niemann-Pick-Disease-Information-Page.
- Porter FD, Dang Do AN. Niemann Pick Disease Type C. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/niemann-pick-disease-type-c/.
- Niemann-Pick disease. MedlinePlus Genetics. 2015; https://medlineplus.gov/genetics/condition/niemann-pick-disease/.
- Wasserstein MP & Schuchman EH. Acid Sphingomyelinase Deficiency:. GeneReviews. 2015; https://www.ncbi.nlm.nih.gov/books/NBK1370/.
- Evans WRH, Hendriksz CJ. Niemann–Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bulletin. 2017; 41(2):109-114. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376728/.
- Niemann-Pick disease. MedlinePlus. 2016; https://www.nlm.nih.gov/medlineplus/ency/article/001207.htm.