Gaucher's disease

Jump to: navigation, search


Gaucher's disease
MRI: H-shaped vertebral bodies in a patient with Gaucher's disease. (Image courtesy of RadsWiki)
ICD-10	E 75.2 (ILDS E75.220)
ICD-9	272.7
OMIM	230800 230900 231000
DiseasesDB	5124
MedlinePlus	000564
MeSH	D005776


Gaucher's disease Microchapters
Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Differentiating Gaucher's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Chest X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Gaucher's disease On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Gaucher's disease All Images X-rays Echo & Ultrasound CT Images MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Gaucher's disease

CDC on Gaucher's disease

Gaucher's disease in the news

Blogs on Gaucher's disease</small>

Directions to Hospitals Treating Gaucher's disease

Risk calculators and risk factors for Gaucher's disease

For patient information click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Synonyms and related keywords: Cerebroside lipidosis syndrome, Gauchers disease, Gaucher splenomegaly, Gaucher syndrome, GD, Glucocerebrosidase deficiency, Glucocerebrosidosis, Glucosylceramidase deficiency, Glucosylceramide beta-glucosidase deficiency, Glucosylceramide lipidosis, Glucosyl cerebroside lipidosis, Kerasin histiocytosis, Kerasin lipoidosis, Kerasin thesaurismosis, Lipoid histiocytosis (kerasin type)

Overview

Historical Perspective

Classification

Pathophysiology

Differentiating Gaucher's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

Case #1

v • d • e Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Amino acid	Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storage	Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipid	Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO₄³⁻ Hypophosphatemia/Hypophosphatasia - Mg²⁺ Hypermagnesemia/Hypomagnesemia - Ca²⁺ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na⁺ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H₂O Dehydration/Hypervolemia - K⁺ Hypokalemia/Hyperkalemia - Cl⁻ Hyperchloremia/Hypochloremia
Purine and pyrimidine	Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
Porphyrin	Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
Bilirubin	Unconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
Glycosaminoglycan	Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
Glycoprotein	Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia