Version: 8.0.0Date: Tue Jan 28 2025
Disease
Disease
Source: DOID:0080489
Definition: A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.
Genes: GLB1 (Hsa)...glb1 (Dre)...glb1.L (Xla)...Glb1 (Mmu)...Glb1 (Rno)
Source: DOID:0111392
Definition: A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.
Genes: GLB1 (Hsa)...glb1 (Dre)...glb1.L (Xla)...Glb1 (Rno)...Glb1 (Mmu)
Disease
Source: DOID:0080501
Definition: A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.
Genes: GLB1 (Hsa)...glb1 (Dre)...Glb1 (Rno)...Glb1 (Mmu)...glb1l (Xtr)
Disease
Source: DOID:3322
Definition: A gangliosidosis that 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 (GLB1) resulting in build up of GM1 ganglioside.
Genes: GLB1 (Hsa)...glb1 (Dre)...Glb1 (Mmu)...Glb1 (Rno)...glb1l (Xtr)
Alleles: Glb1
Disease
Source: DOID:0080502
Definition: A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.
Genes: GLB1 (Hsa)...glb1 (Dre)...glb1.L (Xla)...Glb1 (Mmu)...Glb1 (Rno)
Disease
Source: DOID:12804
Definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
Genes: glb1.L (Xla)...Glb1 (Mmu)...Glb1 (Rno)...GLB1 (Hsa)...glb1 (Dre)