gangliosidosis gm1 |
Disease ID | 1423 |
---|---|
Disease | gangliosidosis gm1 |
Definition | form of gangliosidosis characterized by accumulation of G(M1) ganglioside and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme beta-galactosidase (type A1); three phenotypes of this disorder are infantile (generalized), juvenile, and adult; the infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities; the juvenile form features hyperacusis, seizures, and psychomotor retardation; the adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity. |
Synonym | beta galactosidase 1 defic beta galactosidase 1 deficiency disease beta galactosidosis beta-galactosidase isoenzyme deficiency beta-galactosidase-1 deficiency beta-galactosidase-1 deficiency disease beta-galactosidosis g(m1) gangliosidosis gangliosidosis g(m1) gangliosidosis gm 01 gangliosidosis, gm1 gangliosidosis, gm1 [disease/finding] glb1 deficiency gm gangliosidosis 01 gm1 gangliosidosis gm1 gangliosidosis (disorder) gm1 gangliosidosis, nos gm1 gangliosidosis gm1 gangliosidosis (disorder) gm1 gangliosidosis, nos gm>1< gangliosidosis gm>1< gangliosidosis (disorder) gm>1< gangliosidosis, nos landing syndrome |
Orphanet | |
OMIM | |
DOID | |
UMLS | C0085131 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
Locus | (Waiting for update.) |
Disease ID | 1423 |
---|---|
Disease | gangliosidosis gm1 |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
Disease ID | 1423 |
---|---|
Disease | gangliosidosis gm1 |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
---|
(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
All Snps(Total Genotypes:6) | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs28934886 | 1353343 | 2720 | GLB1 | umls:C0085131 | BeFree | The 51Ile----Thr mutant allele expressed a significant amount of beta-galactosidase activity, whereas the 457Arg----Gln mutant allele expressed extremely low activity in human GM1 gangliosidosis fibroblasts. | 0.149355448 | 1992 | GLB1 | 3 | 33016818 | C | T |
rs34421970 | 12644936 | 2720 | GLB1 | umls:C0085131 | BeFree | We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. | 0.149355448 | 2003 | GLB1 | 3 | 33018489 | G | A |
rs72555390 | 1353343 | 2720 | GLB1 | umls:C0085131 | BeFree | The 51Ile----Thr mutant allele expressed a significant amount of beta-galactosidase activity, whereas the 457Arg----Gln mutant allele expressed extremely low activity in human GM1 gangliosidosis fibroblasts. | 0.149355448 | 1992 | GLB1 | 3 | 33072637 | A | G |
rs72555390 | 24737316 | 2720 | GLB1 | umls:C0085131 | BeFree | In this report, we describe the enzymological properties of purified recombinant human β-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, β-Gal(R201C) and β-Gal(I51T). | 0.149355448 | 2014 | GLB1 | 3 | 33072637 | A | G |
rs72555391 | 15943552 | 2720 | GLB1 | umls:C0085131 | BeFree | The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village. | 0.149355448 | 2005 | GLB1 | 3 | 33016743 | C | T |
rs72555392 | 16941474 | 2720 | GLB1 | umls:C0085131 | BeFree | Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. | 0.149355448 | 2006 | GLB1 | 3 | 33072613 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
---|
(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
---|
(Waiting for update.) |
Disease ID | 1423 |
---|---|
Disease | gangliosidosis gm1 |
Case | (Waiting for update.) |