Niemann-Pick Disease, Type C2
Albert Niemann, a German pediatrician, and Ludwig Pick, a German pathologist, described this neurodegenerative disorder caused by defects in lipid (fat) metabolism.
Niemann-Pick disease
Alternate Names : Sphingomyelinase deficiency
Definition ...
Niemann-Pick Disease
Home
Niemann-Pick Disease
The more you know about your health, the better prepared you are to make informed healthcare decisions. Our health library gives you the information you need to take charge of your health.
NINDS Niemann-Pick Disease Information Page
Skip secondary menu
Home
Disorders A - Z ...
What is Niemann-Pick disease?
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body.
Niemann-Pick disease is inherited. It is an autosomal recessive trait, which means that both parents must carry the abnormal gene for their child to inherit the disease. The exact cause depends on the type of Niemann-Pick disease.
Types A and B ...
Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E).
Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells.
Niemann-Pick disease is hereditary and follows an autosomal recessive pattern.
Niemann-Pick disease
nocardiosis
non-insulin-dependent diabetes mellitus
O ...
National Niemann-Pick Disease Foundation, Inc. - Support Group
National Niemann-Pick Disease Foundation, Inc. - Niemann Pick Type C - Support Group
National Organization for Rare Disorders - Support Group ...
DAF syndrome see Niemann-Pick disease
Dancing Eye syndrome
Dandy-Walker Cysts see Dandy-Walker syndrome
Dandy-Walker syndrome
Darier disease
DDH see Congenital Dislocation and Developmental Dysplasia of the Hip ...
Niemann-Pick disease
Night blindness
Nocturnal amblyopia
Nocturnal leg cramps
Nocturnal muscle cramps
Nominal aphasia
Non-cardiogenic pulmonary edema
Non-Hodgkin's lymphoma in adults
Non-insulin dependent diabetes
Non-mechanical bowel obstruction ...
Recruitment (Audiology), Diacetate, beta-Aminoethylisothiuronium, Disk, Choked, Earth (Planet), Echocardiography, Four-Dimensional, Gegenhalten, Gymnastics, Hydrogel, K1900, KWD2019, Methylomonadaceae, Neoplasms, Mediastinum, Niemann-Pick Disease, ...
Metabolic disease (tyrosinemia, Gaucherdisease type I, Niemann-Pick disease type B, glycogen storage diseasetype IV, Wolman disease, cholesterol ester disease)
Jaundice
Disorders causing hepatomegaly and jaundiceare discussed in Chap.
‡For Ashkenazi Jews, some experts also recommend screening for Gaucher's disease, Niemann-Pick disease type A, Fanconi syndrome group C, Bloom syndrome, and mucolipidosis IV.
The sphingolipidoses include six specific diseases: Niemann-Pick disease, Gaucher disease, Krabbe disease (globoid cell...
The Top Five Questions From Parents ...
Niemann-Pick disease
Primary biliary cirrhosis
Reye syndrome
Sarcoidosis
Sclerosing cholangitis
Steatosis (fat in the liver from metabolic problems such as diabetes, obesity, and high triglycerides)
Tumor metastases ...
Some test only for Tay-Sachs and Canavan diseases; other panels may include disorders such as Gaucher disease, Bloom syndrome, Fanconi anemia, Niemann-Pick disease, hereditary deafness and familial dysautonomia.
Uncommonly, Niemann-Pick Disease Type C (NPC) and Gaucher Disease type 2 can present with hydrops fetalis.
Turner Syndrome
Tumors,[3] the most common type of fetal tumor being teratoma, particularly a sacrococcygeal teratoma.
Histiocytosis, lipid: A form of histiocytosis that affects lipid (fat) storage. Also known as Niemann-Pick disease, Erdheim-Chester disease. There have been approximately 200 cases recorded.
Cancers that spread to the marrow from another location include breast, prostate, lung, and thyroid. Other causes of bone marrow invasion include fungal infections, rare lipid disorders (e.g., Gaucher's or Niemann-Pick disease), ...
These include Parkinson's disease, Wilson's disease and Ataxia telangiectasia. Examples of metabolic disorders causing secondary dystonia are Lesch-Nehan syndrome, Niemann-Pick disease and Leigh's disease. All of these causes are rare.
intolerance, galactosemia, pyruvate metabolism disorders, von Gierke’s disease, McArdle disease, Pompe’s disease, and Forbes’ disease
Fatty acid oxidation defects; examples include Gaucher’s disease, Niemann-Pick disease, ...
Various types of hemolytic anemia — a condition characterized by premature destruction of red blood cells
Blood cancers, such as leukemia and Hodgkin's disease
Metabolic disorders, such as Gaucher's disease and Niemann-Pick disease ...
Intraventricular hemorrhage (as seen in very premature infants)
Other inherited disorders -- Tay-Sachs disease, Aicardi syndrome, Niemann-Pick disease.
Environmental or toxins -- lead poisoning, methyl mercury exposure (Minamata disease) ...
 See also: Symptom, Cancer, Lymphoma, Cholesterol, Deficiency
  
|
RSS
