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Niemann Pick Disease Type C

Important
It is possible that the main title of the report Niemann Pick Disease Type C is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • NPC
  • NPD-C

Disorder Subdivisions

  • None

General Discussion

Summary
Niemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue. The accumulation of these substances damages the affected areas. NPC is highly variable and the age of onset and specific symptoms can vary from one person to another, sometimes even among members of the same family. NPC can range from a fatal disorder within the first few months after birth (neonatal period) to a late onset, chronic progressive disorder that remains undiagnosed well into adulthood. Most cases are detected during childhood and progress to cause life-threatening complications by the second or third decade of life. NPC is caused by mutations in the NPC1 gene (NPC type 1C) or the NPC2 gene (NPC type 2C) and is inherited in an autosomal recessive manner.

Introduction
NPC belongs to a larger group of more than 50 disorders known as lysosomal storage disorders. Lysosomes are membrane-bound compartments within cells. They contain enzymes that break down large molecules such as proteins, carbohydrates and fats into their building blocks. Abnormal functioning of a transport protein leads to the accumulation of cholesterol and other fatty substances in various tissues of the body, including brain tissue. NPC used to be grouped together with two other disorders, named Niemann-Pick disease type A and Niemann-Pick disease type B. However, researchers have determined that the underlying defect in types A and B involves mutations in the SMPD1 gene and deficiency of the enzyme acid sphingomyelinase, which does not occur in NPC. Niemann-Pick disease types A and B are now considered a distinct disorder called acid sphingomyelinase deficiency. NORD has a separate report in the Rare Disease Database on this disorder.

Niemann-Pick disease type D is an obsolete term for a condition in a group of individuals in Nova Scotia, Canada who have NPC due to a specific founder mutation of the NPC1 gene. This form is clinically indistinguishable from NPC. Additional terms have been used in the past to describe NPC including DAF syndrome, juvenile dystonic lipidosis, lipid histiocytosis, and sea blue histiocyte disease. These terms are now considered obsolete.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy, 91300
France
Tel: 0169754030
Fax: 0160111583
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
204
Brookline, MA 02146-4227
USA
Tel: (617)277-4463
Fax: (617)277-0134
Tel: (800)906-8723
Email: info@ntsad.org
Internet: http://www.NTSAD.org

National Niemann-Pick Disease Foundation, Inc.
401 Madison Avenue
Suite B
PO Box 49
Fort Atkinson, WI 53538-0049
Tel: (920)563-0930
Fax: (920)563-0931
Tel: (877)287-3672
Email: nnpdf@nnpdf.com
Internet: http://www.nnpdf.org

NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Internet: http://www.ninds.nih.gov/

Ara Parseghian Medical Research Foundation
4729 E Sunrise Dr.
Suite 327
Tucson, AZ 85718-4535
USA
Tel: (520)577-5106
Fax: (520)577-5212
Email: victory@parseghian.org
Internet: http://www.parseghian.org

Niemann-Pick Disease Group (UK)
Suite 2, Vermont House
Concord
Washington
Tyne and Wear, NE37 2SQ
United Kingdom
Tel: 004401914150693
Email: niemann-pick@zetnet.co.uk
Internet: http://www.niemannpick.org.uk

GOLD, Global Organisation For Lysosomal Diseases
3 Albion Rd
Chalfont St Giles
Buckinghamshire, HP8 4EW
United Kingdom
Tel: 441494870708
Email: enquiries@goldinfo.org
Internet: http://www.goldinfo.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Bogota,
Colombia
Tel: 5713208320
Email: abarrera@javeriana.edu.co
Internet: http://www.javeriana.edu.co/ieim/programas_ieim.htm

Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Internet: http://www.hideandseek.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 10/15/2014
Copyright 1986, 1988, 1990, 1993, 1997, 1999, 2000, 2003, 2004, 2005, 2006, 2014 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization for Rare Disorders

Last Updated: 8/, 015
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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