Mannosidosis, Beta malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Mannosidosis, Beta:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Czech Republic),1-9/1000000 (Netherlands),1-9/1000000 (Portugal); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases, Eye diseases
Rare neurological diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:68 Mannosidosis, beta A, lysosomal: An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes.
MalaCards based summary: Mannosidosis, Beta, also known as beta-mannosidosis, is related to malignant gastric germ cell tumor and marginal zone b-cell lymphoma, and has symptoms including hearing impairment, seizures and abnormal facial shape. An important gene associated with Mannosidosis, Beta is MANBA (Mannosidase Beta), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Other glycan degradation. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.
Disease Ontology:11 A lysosomal storage disease that has material basis in deficiency of the beta-a-manosidase enzyme resulting in the disruption of n-linked glycoprotein oligosaccharide catabolism.
Genetics Home Reference:24 Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
OMIM:50 Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency... (248510) more...
HPO human phenotypes related to Mannosidosis, Beta:(show all 19)
MalaCards organs/tissues related to Mannosidosis, Beta:34
MGI Mouse Phenotypes related to Mannosidosis, Beta:39
Clinvar genetic disease variations for Mannosidosis, Beta:5
Search GEO for disease gene expression data for Mannosidosis, Beta.
Pathways related to Mannosidosis, Beta according to GeneCards Suite gene sharing:
Cellular components related to Mannosidosis, Beta according to GeneCards Suite gene sharing:
Biological processes related to Mannosidosis, Beta according to GeneCards Suite gene sharing:
Molecular functions related to Mannosidosis, Beta according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet