MCID: GLB016
MIFTS: 13

Glb1-Related Disorders

Aliases & Classifications for Glb1-Related Disorders

MalaCards integrated aliases for Glb1-Related Disorders:

Name: Glb1-Related Disorders 25 29 6

Summaries for Glb1-Related Disorders

MalaCards based summary : Glb1-Related Disorders is related to parkinson disease, late-onset and gm1-gangliosidosis, type i. An important gene associated with Glb1-Related Disorders is GLB1 (Galactosidase Beta 1). Affiliated tissues include heart and bone marrow.

GeneReviews: NBK164500

Related Diseases for Glb1-Related Disorders

Diseases related to Glb1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 10.0
2 gm1-gangliosidosis, type i 10.0
3 mucopolysaccharidosis, type ivb 10.0
4 yemenite deaf-blind hypopigmentation syndrome 10.0
5 branchiootic syndrome 1 10.0
6 mucopolysaccharidosis-plus syndrome 10.0
7 sleep apnea 10.0
8 infective endocarditis 10.0
9 scoliosis 10.0
10 urinary tract infection 10.0
11 gm1 gangliosidosis 10.0
12 heart valve disease 10.0
13 gangliosidosis 10.0
14 spasticity 10.0

Graphical network of the top 20 diseases related to Glb1-Related Disorders:



Diseases related to Glb1-Related Disorders

Symptoms & Phenotypes for Glb1-Related Disorders

Drugs & Therapeutics for Glb1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Glb1-Related Disorders

Genetic Tests for Glb1-Related Disorders

Genetic tests related to Glb1-Related Disorders:

# Genetic test Affiliating Genes
1 Glb1-Related Disorders 29

Anatomical Context for Glb1-Related Disorders

MalaCards organs/tissues related to Glb1-Related Disorders:

40
Heart, Bone Marrow

Publications for Glb1-Related Disorders

Articles related to Glb1-Related Disorders:

(show all 39)
# Title Authors PMID Year
1
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling. 25
31367523 2019
2
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression. 25
28577204 2017
3
Infantile gangliosidoses: Mapping a timeline of clinical changes. 25
28476546 2017
4
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 25
26646981 2016
5
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 25
23337983 2013
6
Diagnosing mucopolysaccharidosis IVA. 25
23371450 2013
7
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. 25
22358740 2013
8
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. 25
23385297 2013
9
Anaesthesia and airway management in mucopolysaccharidosis. 25
23197104 2013
10
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. 25
23046582 2013
11
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease. 25
22033734 2012
12
Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 25
22128166 2012
13
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 25
21497194 2011
14
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 25
21520340 2011
15
Respiratory manifestations in mucopolysaccharidoses. 25
21458742 2011
16
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. 25
21506915 2011
17
Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. 25
21118106 2010
18
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. 25
20881161 2010
19
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 25
20175788 2010
20
Skeletal dysplasias: evaluation with impulse oscillometry and thoracoabdominal motion analysis. 25
20575094 2010
21
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. 25
18524657 2008
22
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis. 25
18387328 2008
23
Growth charts for patients affected with Morquio A disease. 25
18412124 2008
24
Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. 25
17545263 2007
25
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. 25
17347914 2007
26
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 25
17309651 2007
27
Neuroimaging findings in infantile GM1 gangliosidosis. 25
17052929 2006
28
Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment. 25
16966555 2006
29
Dystonia and parkinsonism in GM1 type 3 gangliosidosis. 25
15986423 2005
30
Cumulative incidence rates of the mucopolysaccharidoses in Germany. 25
16435194 2005
31
Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis. 25
16151914 2005
32
Morquio's syndrome and its anaesthetic considerations. 25
12358664 2002
33
Anti-GM1 ganglioside antibodies: their role in the diagnosis and pathogenesis of immune-mediated motor neuropathies. 25
10833614 2000
34
Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme. 25
10744681 2000
35
The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein. 25
9497360 1998
36
The mucopolysaccharidoses: a clinical review and guide to management. 25
7741581 1995
37
Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein. 25
2511208 1989
38
Mild manifestations of the Morquio syndrome. 25
6431819 1984
39
GLB1-Related Disorders 61
24156116 2013

Variations for Glb1-Related Disorders

ClinVar genetic disease variations for Glb1-Related Disorders:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLB1 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) Duplication Pathogenic 202191 rs794729217 GRCh37: 3:33055704-33055705
GRCh38: 3:33014212-33014213

Expression for Glb1-Related Disorders

Search GEO for disease gene expression data for Glb1-Related Disorders.

Pathways for Glb1-Related Disorders

GO Terms for Glb1-Related Disorders

Sources for Glb1-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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