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47 Possible Causes for Mutation in the Beta Galactosidase Gene

  • Gangliosidosis GM1

    […] is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1[] […] cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.[] Etiology The disorder is caused by mutations in the GLB1 gene (3p22.3) coding for beta-galactosidase. To date, more than 165 mutations have been identified.[]

  • Gangliosidosis

    To date, up to 102 mutations distributed along the beta-galactosidase gene (GLB1) have been reported.[] Abstract Allelic mutations of the lysosomal beta-galactosidase gene cause heterogeneous clinical phenotypes, such as GM1 gangliosidosis and Morquio B disease, the former being[] […] is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1[]

  • Fabry Disease

    BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations.[] Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta. There are many reports on efficacy and safety of ERT.[]

  • Congenital Nephrotic Syndrome

    Congenital nephrotic syndrome of the Finnish type ( NPHS1 ) is caused by mutations in a novel NPHS1 gene, which encodes for a cell adhesion protein, nephrin [16].[] Biological context of NPHS1 A 186-bp fragment from the human NPHS1 promoter is capable of directing podocyte-specific expression of a beta-galactosidase transgene when placed[]

  • Mucopolysaccharidosis

    (c.438_440delTCT and c.817_818TG CT mutations in the GLB1 gene).[] We confirmed the diagnosis of MPS IVB by identifying decreased beta-galactosidase activity in isolated leukocytes (6 nmol/h/mg; controls 95-272) and by molecular genetic analyses[]

  • Mucopolysaccharidosis 4

    Morquio B disease is caused by very particular mutations in the gene encoding for the beta galactosidase enzyme (GLB1 gene) , which leads to a progressive accumulation of[] Morquio type B - MPS IV B is caused by a mutated gene that manufactures the enzyme, beta-galactosidase.[] The genes coding for both enzymes have been located and cloned ( GALNS on 16q24 and GLB1 on 3p) and mutations have been identified (118 for GALNS ).[]

  • Gaucher Disease

    MPS IV A results from mutations in the gene encoding galactosamine-6-sulfatase (GALNS), located at 16q24.3. MPS IV B is due to beta-galactosidase deficiency.[]

  • Baller-Gerold Syndrome

    The mutations in the beta-galactosidase-1 gene result in intracellular accumulation of GM1 ganglioside, keratan sulfate, and oligosaccharides.[] Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. Hum Mutat 13:401-9. 2. Santamaria R et al.[] J Biol Chem271:28359-65 1996 PubMed ID: 8910459 Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y , Human beta-galactosidase gene mutations in morquio B disease[]

  • Globoid Cell Leukodystrophy

    Krabbe’s disease or globoid-cell leukodystrophy is an autosomal recessive disorder caused by a mutation of the galactocerebroside beta-galactosidase gene located at chromosome[] (PMID: 17579360) Lissens W … Fiumara A (Human mutation 2007) 3 4 22 58 Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations[] , frameshift Additional Variant Information for GALC Gene Human Gene Mutation Database (HGMD) GALC SNPedia medical, phenotypic, and genealogical associations of SNPs for GALC[]

  • Funnel Chest

    Degenerative disease of the brain and spinal cord due to an inherited deficiency of the enzyme beta-galactosidase.[] GANGLIOSIDOSIS GM1 Type: lethal, behaves as autosomal recessive Breeds: Siamese, Korat and other breeds A lysosomal storage disease caused by mutated GLB1 gene.[]

Further symptoms