Mannosidosis, Beta malady
Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases categories
OMIM:45 Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency... (248510) more...
MalaCards based summary: Mannosidosis, Beta, also known as beta-mannosidosis, is related to lysosomal storage disease and mannosidosis, and has symptoms including hearing impairment, seizures and abnormal facial shape. An important gene associated with Mannosidosis, Beta is MANBA (mannosidase, beta A, lysosomal). Affiliated tissues include bone.
Disease Ontology:9 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:21 Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
Mannosidosis, Beta, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
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
Characteristics (Orphanet epidemiological data):47
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
Diseases in the Mannosidosis family:
Diseases related to Mannosidosis, Beta via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Mannosidosis, Beta:
Symptoms by clinical synopsis from OMIM:248510
Clinical features from OMIM:248510
Symptoms:47 (show all 7)
HPO human phenotypes related to Mannosidosis, Beta:(show all 21)
MalaCards organs/tissues related to Mannosidosis, Beta:31
Clinvar genetic disease variations for Mannosidosis, Beta:6
Search GEO for disease gene expression data for Mannosidosis, Beta.
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet