Alpha Mannosidosis

Common Name(s)

Alpha Mannosidosis

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alpha Mannosidosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alpha Mannosidosis" returned 30 free, full-text research articles on human participants. First 3 results:

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
 

Author(s): Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, Flemming Wibrand, Helle Bagterp Klenow, Michael Beck, Yasmina Amraoui, Laila Arash, Jens Fogh, Øivind Nilssen, Christine I Dali, Allan Meldgaard Lund

Journal:

 

Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities.

Last Updated: 13 Jun 2015

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Natural history of alpha mannosidosis a longitudinal study.
 

Author(s): Michael Beck, Klaus J Olsen, James E Wraith, Jiri Zeman, Jean-Claude Michalski, Paul Saftig, Jens Fogh, Dag Malm

Journal:

 

Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities and mental retardation. In order to characterize the clinical features and ...

Last Updated: 26 Jun 2013

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Human α-mannosidase produced in transgenic tobacco plants is processed in human α-mannosidosis cell lines.
 

Author(s): Francesca De Marchis, Chiara Balducci, Andrea Pompa, Hilde M F Riise Stensland, Marco Guaragno, Rita Pagiotti, Anna R Menghini, Emanuele Persichetti, Tommaso Beccari, Michele Bellucci

Journal: Plant Biotechnol. J.. 2011 Dec;9(9):1061-73.

 

Deficiency in human lysosomal α-mannosidase (MAN2B1) results in α-mannosidosis, a lysosomal storage disorder; patients present a wide range of neurological, immunological, and skeletal symptoms caused by a multisystemic accumulation of mannose-containing oligosaccharides. Here, ...

Last Updated: 9 Nov 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alpha Mannosidosis" returned 2 free, full-text review articles on human participants. First 3 results:

Alpha-mannosidosis.
 

Author(s): Dag Malm, Øivind Nilssen

Journal:

 

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, ...

Last Updated: 13 Aug 2008

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Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 

Author(s): J C Michalski, A Klein

Journal: Biochim. Biophys. Acta. 1999 Oct;1455(2-3):69-84.

 

Glycoproteinoses belong to the lysosomal storage disorders group. The common feature of these diseases is the deficiency of a lysosomal protein that is part of glycan catabolism. Most of the lysosomal enzymes involved in the hydrolysis of glycoprotein carbohydrate chains are exo-glycosidases, ...

Last Updated: 8 Dec 1999

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Biomarkers in Alpha-mannosidosis
 

Status: Recruiting

Condition Summary: Alpha-Mannosidosis

 

Last Updated: 20 Jul 2016

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Longitudinal Studies of the Glycoproteinoses
 

Status: Recruiting

Condition Summary: Aspartylglucosaminuria; Fucosidosis; Galactosialidosis; Alpha Mannosidosis; Beta Mannosidosis; Mucolipidosis II; Mucolipidosis III; Schindler Disease; Sialidosis

 

Last Updated: 9 Sep 2014

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MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 22 Jan 2016

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