eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| 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) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (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) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1423 |
|---|---|
| Disease | gangliosidosis gm1 |
| Case | (Waiting for update.) |