Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases
Aliases & Descriptions for Galactosialidosis:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: All ages
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
OMIM:50 Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase (611458)... (256540) more...
MalaCards based summary: Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is related to shprintzen-goldberg syndrome and neuroblastoma, and has symptoms including coarse facial features, hearing impairment and abnormality of the macula. An important gene associated with Galactosialidosis is CTSA (Cathepsin A), and among its related pathways are Lysosome and Other glycan degradation. Affiliated tissues include bone, bone marrow and skin.
Genetics Home Reference:24 Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.
NIH Rare Diseases:46 Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the ctsa gene. it is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. there are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. the three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. last updated: 5/16/2011
UniProtKB/Swiss-Prot:68 Galactosialidosis: A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival.
Wikipedia:69 Galactosialidosis is a lysosomal storage disease. more...
Symptoms by clinical synopsis from OMIM:256540
Clinical features from OMIM:256540
Symptoms:52 (show all 9)
HPO human phenotypes related to Galactosialidosis:(show all 20)
Interventional clinical trials:
Search NIH Clinical Center for Galactosialidosis
MalaCards organs/tissues related to Galactosialidosis:34
Bone, Bone marrow, Skin, Eye, Brain, Placenta, Retina
Articles related to Galactosialidosis:(show top 50) (show all 92)
UniProtKB/Swiss-Prot genetic disease variations for Galactosialidosis:68 (show all 12)
Clinvar genetic disease variations for Galactosialidosis:5
Search GEO for disease gene expression data for Galactosialidosis.
Pathways related to Galactosialidosis according to GeneCards Suite gene sharing:
Cellular components related to Galactosialidosis according to GeneCards Suite gene sharing:
Biological processes related to Galactosialidosis according to GeneCards Suite gene sharing:
Molecular functions related to Galactosialidosis 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