Disease Information for Mannosidosis

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Clinical Manifestations
Signs & Symptoms
Mental Deficiency Child
Psychomotor retardation
Coarsened facial features
Short stature
Short stature Child
Disease Progression
Course/Chronic only
Onset childhood/young adult/twenties
Onset infancy/worst variant
Onset/Age 9 to 19 months
Onset/Age one
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Dysostosis multiplex findings
Associated Diseases & Rule outs
Associated Disease & Complications
Dysostosis multiplex
Mental retardation
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 19cen-q12
Pathophysiology/Gene locus 4q22-q25
Pathophysiology/Gene locus 5q21-q22
Pathophysiology/Gene locus chromosome 19
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene locus/Chromosome 4
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Chemotaxis failure/phagocytes/effect
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Disease with two subtypes
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
Deficiency Disease Mannosidase, Deficiency Diseases Mannosidase, Deficiency Syndrome Mannosidase, Deficiency Syndromes Mannosidase, Diseases Mannosidase Deficiency, MANNOSIDASE DEFIC DIS, MANNOSIDASE DEFIC SYNDROMES, mannosidase deficiency, Mannosidase Deficiency Disease, Mannosidase Deficiency Diseases, Mannosidase Deficiency Syndrome, Mannosidase Deficiency Syndromes, Mannosidoses, mannosidosis, Mannosidosis (disorder), Synonym/Alpha Mannosidase B deficiency
Definition

Inborn error of metabolism marked by a defect in alpha-mannosidase activity that results in lysosomal accumulation of mannose-rich substrates; Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex; It is thought to be an autosomal recessive disorder----------------------------------Alpha-Mannosidosis; Alpha-Mannosidase B Deficiency ; Lysosomal Alpha-D-Mannosidase Deficiency; Mannosidase, Alpha B, Lysosomal Mannosidosis; Mannosidosis, Alpha B, Lysosomal;

Alpha-mannosidosis is one of a group of very rare inherited disorders known as glycoprotein and related storage diseases; These disorders are caused by a defect in the breakdown of complex molecules in the cells, as a result of an enzyme deficiency; The enzyme that is lacking is known as alpha-D-mannosidase; The molecules that are not broken down are stored in the small components within cells known as lysosomes; The approximately 50 diseases in which this occurs are known as lysosomal storage diseases; In addition to alpha mannosidosis and a related disorder, beta mannosidosis, the lysosomal storage disorders include Fabry disease, Gaucher disease, cystinosis, aspartylglycosaminuria, the mucopolysaccharidoses, the mucolipidoses, and others; There are two types of alpha-mannosidosis: type I and type II; Type I is much less common; Its symptoms may begin within the first year of life; Type II, the milder form, may begin during the juvenile or adult years-------------[NORD 2005]-------------

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External Links Related to Mannosidosis
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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