Niemann-Pick Disease Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), http://www.ncbi.nlm.nih.gov/disease/NP.html
Extractions: Today, there are three separate diseases that carry the name Niemann-Pick: Type A is the acute infantile form, Type B is a less common, chronic, non-neurological form, while Type C is a biochemically and genetically distinct form of the disease. Recently, the major locus responsible for Niemann-Pick type C (NP-C) was cloned from chromosome 18, and found to be similar to proteins that play a role in cholesterol homeostasis. Usually, cellular cholesterol is imported into lysosomes - 'bags of enzymes' in the cell - for processing, after which it is released. Cells taken from NP-C patients have been shown to be defective in releasing cholesterol from lysosomes. This leads to an excessive build-up of cholesterol inside lysosomes, causing processing errors. NPC1 was found to have known sterol-sensing regions similar to those in other proteins, which suggests it plays a role in regulating cholesterol traffic.
Jim Lambright Niemann-Pick Foundation For more information about the Jim Lambright niemannpick Foundation, please call (206)221-2959 or e-mail help@lambrightfoundation.org. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Niemann-Pick Disease Niemann Pick disease In 1914, German pediatrician Albert Niemann Recently, the major locus responsible for Niemann Pick type C (NPC) was cloned from http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect
Three Longhorns Ineligible Notre Dame football coach Ara Parseghian, whose family raised millions of dollars to pay for research on niemannpick disease, has died of the http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Niemann-Pick Disease / Family Village Library National niemannpick Disease Foundation (NNPDF) gives emotional support, A mailing list for persons with niemann-pick Type B, their family, http://www.familyvillage.wisc.edu/lib_np.htm
Extractions: Web: http://www.nnpdf.org/ National Niemann-Pick Disease Foundation (NNPDF) gives emotional support, provides assistance through a crisis, shares resources and ideas about such issues as doctors, clinics, insurance companies and other health and human service programs. They provide practical suggestions about day-to-day care of the children, and establish relationships with others who, on a personal level, understand both the anguish and the recovery of being a parent of a dying child. NNPDF provides parent-to-parent matching through membership, families are listed in a directory which is distributed annually. There is a new family packet that includes brochures, fact sheets, and family "care" information. There is also a list of organizations that can be helpful resources. NPD publishes the Niemann-Pick Newsletter , three times a year that is included in the annual membership.
Niemann-Pick - Die Niemann Pick Selbsthilfegruppe E.V. Wir ber uns. Was bedeutet NP? Anzeichen Symptome. Diagnose. Therapie. Kontaktaufnahme Die Niemann Pick Selbsthilfegruppe e.V. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: April 12, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: NPD, acid sphingomyelinase deficiency, sphingomyelinase, enzyme deficiencies, neurodegenerative disease, failure to thrive, hepatosplenomegaly, sphingomyelin accumulation, lipid storage disorder, defective cholesterol metabolism, Niemann-Pick cells, NPD type A, NPD type B AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Margaret McGovern, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics , and American Society of Human Genetics Editor(s): James Bowman, MD
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Last Updated: March 30, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: NPD, Crocker's syndrome, Crocker syndrome, Crocker-Farber syndrome, Niemann's disease, Niemann disease, Pick's disease, Pick disease, essential lipoid histiocytosis, lipid histiocytosis, phosphatidolipoidosis, phosphatidosis sphingomyelin lipidosis, sphingomyelinosis, sphingomyelin reticuloendotheliosis AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Santiago A Centurion, MD , Staff Physician, Department of Dermatology, UMDNJ-New Jersey Medical School Coauthor(s): Danielle Lann, MD , Staff Physician, Dermatology, UMDNJ-New Jersey Medical School Naomi Bartnoff, MS , Genetics Counselor, Obstetrics and Gynecology, UMDNJ-New Jersey Medical School Robert A Schwartz, MD, MPH
Niemann-Pick Disease - Wikipedia, The Free Encyclopedia niemannpick disease is an inherited condition involving lipid metabolism Type A niemann-pick disease begins during infancy and is characterized by an http://en.wikipedia.org/wiki/Niemann-Pick_disease
Extractions: You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen liver lungs bone marrow , and brain Autosomal recessive inheritence There are four variants of Nieman-Pick disease based on the genetic cause and the symptoms exhibited by the patient. All variants are inherited in a autosomal recessive pattern. Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen ( hepatosplenomegaly ), failure to thrive, and progressive deterioration of the nervous system . Children affected by this condition generally do not survive past early childhood. Niemann-Pick disease, type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is unknown.
Niemann-Pick Disease National niemannpick Disease Foundation, Inc. niemann-pick Disease Foundation niemann-pick Disease Group, United Kingdom http://www.kumc.edu/gec/support/niemann.html
Extractions: N1590 Fairview Lane Ft. Atkinson, WI 53538 Phone: 920.563.8677 URL: http://www.nnpdf.org/ E-mail: webmaster@nnpdf.org Niemann-Pick Disease Group , United Kingdom Aide Aux Familles Niemann-Pick , France Niemann-Pick Selbsthilfegruppe , Germany National organizations , genetic conditions or birth defects resources National Organization for Rare Disorders, Inc. disease information Ara Parseghian Medical Research Foundation (former Notre Dame Coach), foundation for Niemann-Pick Type C Disease International Center for Types A and B Niemann-Pick Disease , Mount Sinai School of Medicine, New York National Foundation for Jewish Genetic Diseases , United States Jim Lambright Medical Research Foundation Niemann-Pick Type A and B Families , National Niemann-Pick Disease Foundation Help Kevin Jacob's Reach Aide aux Familles Niemann-Pick France Fight for Jessica Liscum Lab Niemann-Pick Pages LLiscum Niemann-Pick Description of NP and other disorders Niemann-Pick Types A and B OMIM database Niemann-Pick Type C , Online Mendelian Inheritance in Man (OMIM) Niemann-Pick Type D , Online Mendelian Inheritance in Man (OMIM) Niemann-Pick page , National Tay-Sachs and Allied Disease Association Inc.
HONselect - Niemann-Pick Diseases ENFERMEDAD DE niemannpick - OFTALMOPLEJIA SUPRAOPTICA VERTICAL DOENCA DE niemann-pick - OFTALMOPLEGIA SUPRAOPTICA VERTICAL http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.475.600.600.html
Niemann-Pick Disease (Ludwig Pick) (www.whonamedit.com) niemannpick disease (Ludwig Pick) A disturbance of sphingolipid metabolism characterised by enlargement of liver and spleen, anaemia, cherry red spot of http://www.whonamedit.com/synd.cfm/1029.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A hereditary, congenital syndrome with onset in early infancy. A disturbance of sphingolipid metabolism characterised by enlargement of liver and spleen, anaemia, cherry red spot of the macula with progressive blindness, lymphadenopathy, and progressive mental and physical deterioration. Death usually occurs before the third year.
Extractions: helpful? yes no There are a number of types of Niemann-Pick disease all of which are characterised by an accumulation of fats in the liver, spleen and bone marrow. Most types of Niemann-Pick disease involve progressive neurological deterioration. Both sexes are equally affected. The main types of Niemann-Pick disease are: Niemann-Pick Type A This acute form has an onset at one to two months and involves learning difficulties and failure to thrive. Life expectancy does not usually exceed 3 years. 40 per cent of those affected individuals are Ashkenazi Jews. Niemann-Pick Type B Onset of the condition manifests itself later. Enlargement of the spleen is usually a first sign of the condition with enlargement of the liver taking place later. Respiratory infections are common. Central nervous system disease is not associated with this form Niemann-Pick Type C Usually there is normal development until the age of about two, but often much later. Enlargement of the spleen is accompanied by progressive loss of speech and ataxia. A characteristic visual movement disorder - vertical supranuclear gaze palsy (VSGP) - is seen, and cataplexy and grand mal seizures may occur. Learning difficulties are progressive with a very varied life expectancy of between five and forty years before dementia leads to death. In about one third of patients significant neonatal liver disease occurs. This is often diagnosed as neonatal hepatitis (see entry
Extractions: Niemann-Pick Disease (NPD) refers to a group of inherited diseases. The three most commonly recognized forms are called Types A, B and C. The name Niemann-Pick derives from two German pediatricians - Albert Niemann, the first doctor to identify the Type A form of the disease in 1914, and Ludwick Pick, who first identified the Type B form of the disease in 1927. Types A and B NPD are both caused by the deficient activity of acid sphingomyelinase (ASM). This enzyme is ordinarily found in special compartments within cells called lysosomes and is required to metabolize a special lipid called sphingomyelin . If ASM is absent or not functioning properly, this lipid cannot be metabolized properly and is accumulated within the cell, eventually causing cell and organ system abnormalities. Although Types A and B NPD are both caused by the same enzyme deficiency and are variants of the same disease, the clinical prognosis for these two groups of patients is very different (see Signs and Symptoms The gene that makes ASM is located on human chromosome 11. Many ASM genes from NPD patients have been studied, and the abnormalities (i.e., mutations) that lead to NPD have been identified. Most patients with Types A and B NPD have unique mutations that occur only in their own family. Knowledge of these mutations helps to confirm the enzymatic diagnosis of NPD and permits accurate carrier detection in other family members. In some ethnic groups, several mutations have been found that occur in more than one family (i.e., "common" mutations). For example, among Ashkenazic Jewish individuals, three mutations called "L302P," "fsP330," and "R496L" account for ~90% of all of the mutations occurring in the ASM genes of Type A NPD patients. Another mutation, called "delta R608," has occurred in several unrelated families with Type B NPD from different ethnic backgrounds. This mutation has never occurred in a family with Type A NPD, and it is a good indicator of Type B NPD.
Jim Lambright Niemann-Pick Foundation niemannpick, Type C Disease is a genetic disorder that prohibits the metabolism of The Jim Lambright niemann-pick Foundation thanks you for being http://www.lambrightfoundation.com/home.html
Extractions: Your help throughout the past years has been immeasurable. Your support has helped us raise awareness about this disease and to guarantee that research can and will be done for the Niemann-Pick as well as all of its other more well-known sister-diseases; Alzheimer's, Lou Gehrig's, Parkinson's, Huntington's, and heart disease at the University of Washington.
Niemann-Pick Disease a CHORUS notecard document about niemannpick disease. http://chorus.rad.mcw.edu/doc/00647.html
Niemann-Pick Disease niemannpick disease. very rare abnormality of lipid metabolism; autosomal recessive, 50% in Ashkenazi Jews. Erlenmeyer flask deformity http://chorus.rad.mcw.edu/to-go/00647.html
