GM1G1
MCID: GM1004
MIFTS: 59

Gm1-Gangliosidosis, Type I (GM1G1)

Categories: Bone diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Gm1-Gangliosidosis, Type I

MalaCards integrated aliases for Gm1-Gangliosidosis, Type I:

Name: Gm1-Gangliosidosis, Type I 57 13
Gm1 Gangliosidosis Type 1 12 20 58 15
Beta-Galactosidase-1 Deficiency 57 20 72
Infantile Gm1 Gangliosidosis 58 29 6
Gangliosidosis, Generalized Gm1, Type 1 57 70
Gangliosidosis Generalized Gm1 Type 1 20 72
Glb1 Deficiency 57 72
Gangliosidosis, Generalized Gm1, Infantile Form 57
Gangliosidosis Generalized Gm1 Infantile Form 20
Gangliosidosis Generalized Gm1 Infantile Type 72
Gangliosidosis, Generalized Gm1, Type I 57
Beta Galactosidase Deficiency Type 1 20
Beta-Galactosidase Deficiency 70
Gm1-Gangliosidosis Infantile 72
Gangliosidosis Gm1 Infantile 54
Gangliosidosis, Gm1, Type I 39
Norman-Landing Disease 58
Glb Deficiency Type 1 20
Gm1-Gangliosidosis 1 72
Gangliosidosis Gm1 70
Gm1g1 72

Characteristics:

Orphanet epidemiological data:

58
gm1 gangliosidosis type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
death in infancy
allelic to mucopolysaccharidosis ivb

Inheritance:
autosomal recessive


HPO:

31
gm1-gangliosidosis, type i:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism


Summaries for Gm1-Gangliosidosis, Type I

OMIM® : 57 GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows 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. Type II, or late-infantile/juvenile form (230600), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (230650), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001). See also Morquio B disease (253010), an allelic disorder with skeletal anomalies and no neurologic involvement. The GM2-gangliosidoses include Tay-Sachs disease (272800) and Sandhoff disease (268800). (230500) (Updated 05-Apr-2021)

MalaCards based summary : Gm1-Gangliosidosis, Type I, also known as gm1 gangliosidosis type 1, is related to gm1-gangliosidosis, type ii and mucopolysaccharidosis, type ivb, and has symptoms including joint stiffness An important gene associated with Gm1-Gangliosidosis, Type I is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Miglustat and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and heart, and related phenotypes are cherry red spot of the macula and intellectual disability

Disease Ontology : 12 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.

GARD : 20 GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile ( type 1 ); juvenile ( type 2 ); and adult onset or chronic ( type 3 ). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.

UniProtKB/Swiss-Prot : 72 GM1-gangliosidosis 1: An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life.

Related Diseases for Gm1-Gangliosidosis, Type I

Diseases in the Gangliosidosis family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii Gm2-Gangliosidosis, Ab Variant
Gm2 Gangliosidosis Gm1 Gangliosidosis
Gm2 Gangliosidosis, 0 Variant Gm2-Gangliosidosis, B, B1, Ab Variant

Diseases related to Gm1-Gangliosidosis, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 gm1-gangliosidosis, type ii 32.2 TMPPE GLB1 CSNK1G1 CCDC33
2 mucopolysaccharidosis, type ivb 31.0 TMPPE GLB1
3 mucopolysaccharidosis iv 30.6 TMPPE SMPD1 GLB1 GALC
4 gm1-gangliosidosis, type iii 30.6 TMPPE GLB1
5 gm1 gangliosidosis 30.6 TMPPE SMPD1 PSAP NPC2 NPC1 GLB1
6 morquio syndrome 30.6 TMPPE GLB1
7 gangliosidosis 30.6 TMPPE PSAP GLB1 ELN CHIT1
8 glycoproteinosis 30.4 PSAP GLB1
9 pick disease of brain 29.8 SMPD1 NPC2 NPC1
10 gm2 gangliosidosis 29.5 SMPD1 PSAP NPC2 NPC1 GLB1
11 tay-sachs disease 29.2 SMPD1 PSAP NPC2 NPC1 GLB1 CHIT1
12 lysosomal storage disease 29.0 SMPD1 PSAP NPC2 NPC1 GLB1 GALC
13 sphingolipidosis 29.0 SMPD1 PSAP NPC2 NPC1 GLB1 GALC
14 mucopolysaccharidosis-plus syndrome 28.9 SMPD1 NPC2 NPC1 GLB1 GALC ELN
15 generalized gangliosidoses 11.4
16 3-methylglutaconic aciduria, type iii 10.3
17 infantile krabbe disease 10.2 PSAP GALC
18 pontocerebellar hypoplasia type 1 10.2 EXOSC9 EXOSC8
19 combined saposin deficiency 10.2 PSAP GALC
20 pontocerebellar hypoplasia, type 1b 10.2 EXOSC9 EXOSC8
21 x-linked nephrolithiasis type i 10.2 EXOSC9 EXOSC8
22 dysostosis 10.1
23 hypertonia 10.1
24 hypotonia 10.1
25 lysosomal storage disease with skeletal involvement 10.1
26 nephrosialidosis 10.1
27 neuraminidase deficiency 10.1
28 telangiectasis 10.1
29 angiokeratoma 10.1
30 niemann-pick disease type c, juvenile neurologic onset 10.1 NPC2 NPC1
31 niemann-pick disease type c, adult neurologic onset 10.1 NPC2 NPC1
32 gm2-gangliosidosis, ab variant 10.1 PSAP GLB1
33 niemann-pick disease type c, severe early infantile neurologic onset 10.1 NPC2 NPC1
34 niemann-pick disease type c, late infantile neurologic onset 10.1 NPC2 NPC1
35 niemann-pick disease type c, severe perinatal form 10.1 NPC2 NPC1
36 hydrops fetalis, nonimmune 10.1
37 lymphatic malformation 7 10.1
38 respiratory failure 10.1
39 glb1-related disorders 10.1
40 cerebral atrophy 10.1
41 posttransplant acute limbic encephalitis 10.1
42 rare neurodegenerative disease 10.1
43 gaucher disease, type ii 10.1 PSAP CHIT1
44 aortic valve prolapse 10.1 EXOSC9 EXOSC8 CSNK1G1 CCDC33
45 galactosialidosis 10.0 PSAP GLB1 CHIT1
46 nephrotic syndrome, type 14 10.0 SMPD1 GALC
47 acid sphingomyelinase deficiency 10.0 SMPD1 NPC1
48 hyperoxaluria, primary, type iii 10.0 EXOSC9 EXOSC8
49 spinal muscular atrophy with progressive myoclonic epilepsy 10.0 SMPD1 GALC
50 fucosidosis 9.9 GLB1 CHIT1

Graphical network of the top 20 diseases related to Gm1-Gangliosidosis, Type I:



Diseases related to Gm1-Gangliosidosis, Type I

Symptoms & Phenotypes for Gm1-Gangliosidosis, Type I

Human phenotypes related to Gm1-Gangliosidosis, Type I:

58 31 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cherry red spot of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0010729
2 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
3 frontal bossing 58 31 Occasional (29-5%) HP:0002007
4 gingival overgrowth 58 31 Occasional (29-5%) HP:0000212
5 hypoplastic vertebral bodies 58 31 Occasional (29-5%) HP:0008479
6 decreased beta-galactosidase activity 58 31 Obligate (100%) HP:0008166
7 seizures 58 Occasional (29-5%)
8 spasticity 58 Frequent (79-30%)
9 scoliosis 31 HP:0002650
10 kyphosis 31 HP:0002808
11 short neck 31 HP:0000470
12 developmental regression 58 Very frequent (99-80%)
13 macroglossia 58 Occasional (29-5%)
14 coarse facial features 31 HP:0000280
15 hearing impairment 58 Very frequent (99-80%)
16 splenomegaly 31 HP:0001744
17 hepatomegaly 31 HP:0002240
18 skeletal dysplasia 58 Frequent (79-30%)
19 depressed nasal bridge 58 Occasional (29-5%)
20 inguinal hernia 31 HP:0000023
21 hypertelorism 31 HP:0000316
22 macrotia 58 Occasional (29-5%)
23 pectus carinatum 58 Occasional (29-5%)
24 joint stiffness 31 HP:0001387
25 abnormal facial shape 58 Very frequent (99-80%)
26 thickened calvaria 58 Occasional (29-5%)
27 beaking of vertebral bodies 31 HP:0004568
28 blindness 58 Very frequent (99-80%)
29 dysostosis multiplex 58 Frequent (79-30%)
30 abnormal heart valve morphology 31 HP:0001654
31 congestive heart failure 31 HP:0001635
32 hydrops fetalis 58 Occasional (29-5%)
33 intrauterine growth retardation 58 Very rare (<4-1%)
34 low-set ears 58 Occasional (29-5%)
35 abnormality of the skeletal system 58 Very frequent (99-80%)
36 hypertrophic cardiomyopathy 31 HP:0001639
37 dilated cardiomyopathy 31 HP:0001644
38 depressed nasal ridge 31 HP:0000457
39 long philtrum 58 Occasional (29-5%)
40 platyspondyly 58 Occasional (29-5%)
41 abnormality of extrapyramidal motor function 58 Excluded (0%)
42 abnormality of the urinary system 31 HP:0000079
43 dystonia 58 Excluded (0%)
44 abnormality of the nervous system 58 Very frequent (99-80%)
45 thickened skin 58 Occasional (29-5%)
46 feeding difficulties 58 Occasional (29-5%)
47 cardiomyopathy 58 Frequent (79-30%)
48 psychomotor retardation 58 Very frequent (99-80%)
49 severe short stature 31 HP:0003510
50 aspiration pneumonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
hypoplastic vertebral bodies
beaked vertebral bodies

Abdomen Spleen:
splenomegaly

Abdomen External Features:
inguinal hernia

Skeletal Limbs:
joint stiffness

Skin Nails Hair Hair:
hypertrichosis

Neurologic Central Nervous System:
cerebral degeneration
mental retardation

Growth Height:
dwarfism

Cardiovascular Heart:
dilated cardiomyopathy (in a subset of patients)
hypertrophic cardiomyopathy (in a subset of patients)
congestive heart failure (in a subset of patients)
valvular heart disease (in a subset of patients)

Genitourinary Kidneys:
glomerular epithelial cytoplasmic vacuolization

Head And Neck Neck:
short neck

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
hypertelorism
clear cornea
cherry-red spot in half the patients

Skin Nails Hair Skin:
angiokeratoma corporis diffusum
dermal melanocytosis

Immunology:
vacuolated lymphocytes

Head And Neck Face:
coarse facies
flat nose
full forehead

Head And Neck Mouth:
gingival hyperplasia

Chest Ribs Sternum Clavicles And Scapulae:
thick ribs

Metabolic Features:
no mucopolysacchariduria
beta-galactosidase-1 deficiency

Clinical features from OMIM®:

230500 (Updated 05-Apr-2021)

UMLS symptoms related to Gm1-Gangliosidosis, Type I:


joint stiffness

MGI Mouse Phenotypes related to Gm1-Gangliosidosis, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.85 BBS4 EXOSC9 GALC GLB1 MAF NCR1
2 immune system MP:0005387 9.65 BBS4 CHIT1 GALC GLB1 MAF NCR1
3 liver/biliary system MP:0005370 9.23 BBS4 GALC GLB1 MAF NPC1 NPC2

Drugs & Therapeutics for Gm1-Gangliosidosis, Type I

Drugs for Gm1-Gangliosidosis, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2 Anti-Infective Agents Phase 4
3 Glycoside Hydrolase Inhibitors Phase 4
4 Anti-Retroviral Agents Phase 4
5 Antiviral Agents Phase 4
6 Anti-HIV Agents Phase 4
7 Hypoglycemic Agents Phase 4
8 Cardiac Glycosides Phase 4
9
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
11
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
12
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
13
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
15
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Alkylating Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Antirheumatic Agents Phase 2, Phase 3
20 Immunologic Factors Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Antilymphocyte Serum Phase 2, Phase 3
23
Hydroxyurea Approved Phase 2 127-07-1 3657
24
Melphalan Approved Phase 2 148-82-3 4053 460612
25
tannic acid Approved Phase 2 1401-55-4
26
alemtuzumab Approved, Investigational Phase 2 216503-57-0
27
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
28
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
29
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
30
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
31
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
32
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
33
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
34
Chlorhexidine Approved, Vet_approved Phase 1, Phase 2 55-56-1 2713 9552079
35
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
36
Lysine Approved, Nutraceutical Phase 1, Phase 2 56-87-1 5962
37 Cyclosporins Phase 2
38 Dermatologic Agents Phase 2
39 Antimetabolites Phase 2
40 Calcineurin Inhibitors Phase 2
41 Antineoplastic Agents, Immunological Phase 1, Phase 2
42 Antifungal Agents Phase 1, Phase 2
43 Antibiotics, Antitubercular Phase 1, Phase 2
44 Neuroprotective Agents Phase 1, Phase 2
45 Gastrointestinal Agents Phase 1, Phase 2
46 Chlorhexidine gluconate Phase 1, Phase 2
47 Antiemetics Phase 1, Phase 2
48 Anesthetics Phase 1, Phase 2
49 Hormone Antagonists Phase 1, Phase 2
50 glucocorticoids Phase 1, Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) Recruiting NCT02030015 Phase 4 miglustat
2 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 Ganglioside-Monosialic Acid Prophylaxis for Cognitive Dysfunction Related to Whole Brain Radiotherapy in Breast Cancer Patients With Brain Metastases ,a Multi-center,Randomized,Single Blind,Phase III Clinical Trail Recruiting NCT04395339 Phase 3 Monosialotetrahexosyl ganglioside (GM1);Control
4 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
5 Phase 1/2 Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of PBGM01 Delivered Into the Cisterna Magna of Subjects With Type 1 (Early Onset) and Type 2a (Late Onset) Infantile GM1 Gangliosidosis Recruiting NCT04713475 Phase 1, Phase 2
6 A Phase 1/2 Study of Intravenous Gene Transfer With An AAV9 Vector Expressing Human <=-Galactosidase in Type II GM1 Gangliosidosis. Recruiting NCT03952637 Phase 1, Phase 2 Rituximab;Sirolimus;Methylprednisolone;Prednisone
7 An Open-Label Adaptive-Design Study of Intracisternal Adenoassociated Viral Vector Serotype rh.10 Carrying the Human β-Galactosidase cDNA for Treatment of GM1 Gangliosidosis Not yet recruiting NCT04273269 Phase 1, Phase 2
8 Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients Recruiting NCT04041102
9 Natural History Study Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1) Recruiting NCT04310163
10 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
11 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
12 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Recruiting NCT04470713
13 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
14 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329

Search NIH Clinical Center for Gm1-Gangliosidosis, Type I

Genetic Tests for Gm1-Gangliosidosis, Type I

Genetic tests related to Gm1-Gangliosidosis, Type I:

# Genetic test Affiliating Genes
1 Infantile Gm1 Gangliosidosis 29 GLB1

Anatomical Context for Gm1-Gangliosidosis, Type I

MalaCards organs/tissues related to Gm1-Gangliosidosis, Type I:

40
Eye, Spinal Cord, Heart, Bone, Brain, Bone Marrow, Liver

Publications for Gm1-Gangliosidosis, Type I

Articles related to Gm1-Gangliosidosis, Type I:

(show top 50) (show all 167)
# Title Authors PMID Year
1
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. 6 57
10841810 2000
2
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 6 57
10737981 2000
3
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. 57 6
1909089 1991
4
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. 6 57
1907800 1991
5
Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. 57 61
12873889 2003
6
Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. 57 61
2504516 1989
7
The Clinical and Molecular Spectrum of GM1 Gangliosidosis. 6
31761138 2019
8
Clinical implementation of gene panel testing for lysosomal storage diseases. 6
30548430 2019
9
[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis]. 6
30675867 2019
10
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. 6
30267299 2018
11
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. 6
30555092 2018
12
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. 6
29439846 2018
13
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. 6
28976722 2018
14
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. 6
29352662 2018
15
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 6
29451896 2018
16
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. 6
29160035 2018
17
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene. 6
28716012 2017
18
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
19
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. 6
27750150 2017
20
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 6
27679996 2016
21
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 6
26646981 2016
22
Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons. 6
26169295 2015
23
Recurrent and novel GLB1 mutations in India. 6
25936995 2015
24
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 6
25443580 2015
25
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 6
25600812 2015
26
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 6
25557439 2015
27
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 6
26108645 2015
28
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
29
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
30
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. 6
24777551 2014
31
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 6
24767253 2014
32
GLB1-Related Disorders 6
24156116 2013
33
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. 6
23831247 2013
34
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 6
23337983 2013
35
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE. 6
23430803 2013
36
β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype. 6
23430499 2013
37
Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. 6
23151865 2012
38
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. 6
22675082 2012
39
Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis. 6
22234367 2012
40
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. 6
21214877 2012
41
A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene. 6
22371915 2012
42
Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 6
22128166 2012
43
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 6
21520340 2011
44
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 6
21497194 2011
45
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 6
20175788 2010
46
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. 6
20920281 2010
47
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts. 6
20409738 2010
48
Structural bases of GM1 gangliosidosis and Morquio B disease. 6
19644515 2009
49
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 6
19472408 2009
50
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. 6
18571950 2009

Variations for Gm1-Gangliosidosis, Type I

ClinVar genetic disease variations for Gm1-Gangliosidosis, Type I:

6 (show top 50) (show all 321)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLB1 NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) SNV Pathogenic 923 rs72555358 GRCh37: 3:33114136-33114136
GRCh38: 3:33072644-33072644
2 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
3 GLB1 NM_000404.2(GLB1):c.1069_1233dup Duplication Pathogenic 927 GRCh37:
GRCh38:
4 GLB1 NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) SNV Pathogenic 929 rs72555361 GRCh37: 3:33093258-33093258
GRCh38: 3:33051766-33051766
5 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 GRCh37: 3:33058235-33058235
GRCh38: 3:33016743-33016743
6 GLB1 NM_000404.4(GLB1):c.256_278dup (p.Gln95fs) Duplication Pathogenic 934 rs587776524 GRCh37: 3:33110429-33110430
GRCh38: 3:33068937-33068938
7 GLB1 NM_000404.4(GLB1):c.1188dup (p.Pro397fs) Duplication Pathogenic 100725 rs587779403 GRCh37: 3:33063102-33063103
GRCh38: 3:33021610-33021611
8 GLB1 NM_000404.2:c.672_673delAT Deletion Pathogenic 100726 GRCh37:
GRCh38:
9 GLB1 NM_000404.4(GLB1):c.922T>C (p.Phe308Leu) SNV Pathogenic 100727 rs587779404 GRCh37: 3:33093283-33093283
GRCh38: 3:33051791-33051791
10 GLB1 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) SNV Pathogenic 194596 rs794727165 GRCh37: 3:33038803-33038803
GRCh38: 3:32997311-32997311
11 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
12 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 GRCh37: 3:33058235-33058235
GRCh38: 3:33016743-33016743
13 GLB1 NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) SNV Pathogenic 528328 rs564428355 GRCh37: 3:33059962-33059962
GRCh38: 3:33018470-33018470
14 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
15 GLB1 NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) SNV Pathogenic 926 rs72555390 GRCh37: 3:33114129-33114129
GRCh38: 3:33072637-33072637
16 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 GRCh37: 3:33093443-33093443
GRCh38: 3:33051951-33051951
17 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
18 GLB1 NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) SNV Pathogenic 284172 rs376663785 GRCh37: 3:33093481-33093481
GRCh38: 3:33051989-33051989
19 GLB1 NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) Indel Pathogenic 568792 rs1559401428 GRCh37: 3:33093471-33093472
GRCh38: 3:33051979-33051980
20 GLB1 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) SNV Pathogenic 194596 rs794727165 GRCh37: 3:33038803-33038803
GRCh38: 3:32997311-32997311
21 GLB1 NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) SNV Pathogenic 923 rs72555358 GRCh37: 3:33114136-33114136
GRCh38: 3:33072644-33072644
22 GLB1 NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) SNV Pathogenic 944 rs72555370 GRCh37: 3:33114079-33114079
GRCh38: 3:33072587-33072587
23 GLB1 NM_000404.4(GLB1):c.553-1G>C SNV Pathogenic 639100 rs1575459735 GRCh37: 3:33099762-33099762
GRCh38: 3:33058270-33058270
24 GLB1 NM_000404.4(GLB1):c.163del (p.Ile55fs) Deletion Pathogenic 657106 rs1575475703 GRCh37: 3:33114118-33114118
GRCh38: 3:33072626-33072626
25 GLB1 NM_000404.4(GLB1):c.1697C>A (p.Pro566His) SNV Pathogenic 645125 rs1575410340 GRCh37: 3:33055585-33055585
GRCh38: 3:33014093-33014093
26 GLB1 NM_000404.4(GLB1):c.1318C>T (p.His440Tyr) SNV Pathogenic 827672 rs1575414831 GRCh37: 3:33059969-33059969
GRCh38: 3:33018477-33018477
27 GLB1 NC_000003.12:g.(?_33097001)_(33097095_?)del Deletion Pathogenic 832564 GRCh37: 3:33138493-33138587
GRCh38:
28 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 GRCh37: 3:33058235-33058235
GRCh38: 3:33016743-33016743
29 GLB1 NM_000404.4(GLB1):c.1077del (p.Val360fs) Deletion Pathogenic 167146 rs727503952 GRCh37: 3:33065809-33065809
GRCh38: 3:33024317-33024317
30 GLB1 NM_000404.4(GLB1):c.531_534del (p.Gly178fs) Deletion Pathogenic 837229 GRCh37: 3:33106973-33106976
GRCh38: 3:33065481-33065484
31 GLB1 NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) SNV Pathogenic 942 rs72555368 GRCh37: 3:33055784-33055784
GRCh38: 3:33014292-33014292
32 GLB1 NM_000404.4(GLB1):c.1292_1293CT[3] (p.Ser433fs) Microsatellite Pathogenic 842879 GRCh37: 3:33059988-33059989
GRCh38: 3:33018496-33018497
33 GLB1 NM_000404.4(GLB1):c.694dup (p.Ala232fs) Duplication Pathogenic 552535 rs1553611025 GRCh37: 3:33099619-33099620
GRCh38: 3:33058127-33058128
34 GLB1 NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) SNV Pathogenic 551496 rs780724173 GRCh37: 3:33059966-33059966
GRCh38: 3:33018474-33018474
35 GLB1 NM_000404.4(GLB1):c.1480-2A>G SNV Pathogenic 946 rs587776526 GRCh37: 3:33055804-33055804
GRCh38: 3:33014312-33014312
36 GLB1 NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) SNV Pathogenic 496895 rs756878418 GRCh37: 3:33114106-33114106
GRCh38: 3:33072614-33072614
37 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
38 GLB1 NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) SNV Pathogenic 854615 GRCh37: 3:33093274-33093274
GRCh38: 3:33051782-33051782
39 GLB1 NM_000404.4(GLB1):c.1144-2A>G SNV Pathogenic 557226 rs1553607014 GRCh37: 3:33063149-33063149
GRCh38: 3:33021657-33021657
40 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
41 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 GRCh37: 3:33093443-33093443
GRCh38: 3:33051951-33051951
42 GLB1 NM_000404.4(GLB1):c.733+1G>A SNV Pathogenic 553125 rs1041204916 GRCh37: 3:33099580-33099580
GRCh38: 3:33058088-33058088
43 GLB1 NM_000404.4(GLB1):c.495_497del (p.Leu166del) Deletion Pathogenic 684406 rs754077128 GRCh37: 3:33107010-33107012
GRCh38: 3:33065518-33065520
44 GLB1 NM_000404.4(GLB1):c.734-2A>G SNV Pathogenic 946866 GRCh37: 3:33095043-33095043
GRCh38: 3:33053551-33053551
45 GLB1 NM_000404.4(GLB1):c.900_903dup (p.Ser302fs) Duplication Pathogenic 948954 GRCh37: 3:33093385-33093386
GRCh38: 3:33051893-33051894
46 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
47 GLB1 NM_000404.4(GLB1):c.699del (p.Gln234fs) Deletion Pathogenic 928700 GRCh37: 3:33099615-33099615
GRCh38: 3:33058123-33058123
48 GLB1 NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) SNV Pathogenic 553205 rs778700089 GRCh37: 3:33109733-33109733
GRCh38: 3:33068241-33068241
49 GLB1 NM_000404.4(GLB1):c.1480-2A>G SNV Pathogenic 946 rs587776526 GRCh37: 3:33055804-33055804
GRCh38: 3:33014312-33014312
50 GLB1 NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) SNV Pathogenic 928 rs28934274 GRCh37: 3:33110341-33110341
GRCh38: 3:33068849-33068849

UniProtKB/Swiss-Prot genetic disease variations for Gm1-Gangliosidosis, Type I:

72 (show all 50)
# Symbol AA change Variation ID SNP ID
1 GLB1 p.Arg49Cys VAR_003329 rs72555358
2 GLB1 p.Gly123Arg VAR_003331 rs28934274
3 GLB1 p.Arg201Cys VAR_003332 rs72555360
4 GLB1 p.Tyr316Cys VAR_003334 rs72555361
5 GLB1 p.Arg482His VAR_003336 rs72555391
6 GLB1 p.Arg59His VAR_008672 rs72555392
7 GLB1 p.Arg121Ser VAR_008675 rs879050821
8 GLB1 p.Arg208Cys VAR_008676 rs72555366
9 GLB1 p.Val240Met VAR_008677
10 GLB1 p.Asp491Asn VAR_008679 rs780232995
11 GLB1 p.Lys578Arg VAR_008682 rs371582179
12 GLB1 p.Tyr591Cys VAR_008684 rs72555371
13 GLB1 p.Tyr591Asn VAR_008685 rs72555373
14 GLB1 p.Arg148Ser VAR_013541 rs192732174
15 GLB1 p.Arg201His VAR_013542 rs189115557
16 GLB1 p.Val216Ala VAR_013544 rs886042815
17 GLB1 p.His281Tyr VAR_013548 rs745386663
18 GLB1 p.Asp332Asn VAR_013549 rs781658798
19 GLB1 p.Gly494Cys VAR_013553 rs131262620
20 GLB1 p.Gly579Asp VAR_013555 rs746350513
21 GLB1 p.Arg59Cys VAR_026129 rs756878418
22 GLB1 p.Arg68Trp VAR_026130 rs72555370
23 GLB1 p.Asp151Tyr VAR_026131
24 GLB1 p.Thr239Met VAR_026132 rs746766232
25 GLB1 p.Gly134Val VAR_037937 rs773562141
26 GLB1 p.Leu162Ser VAR_037940
27 GLB1 p.Asp491Tyr VAR_037943
28 GLB1 p.Pro549Leu VAR_037944 rs776327443
29 GLB1 p.Arg590Cys VAR_037946 rs794727165
30 GLB1 p.Gly272Asp VAR_038346
31 GLB1 p.Met132Thr VAR_062344 rs155361218
32 GLB1 p.Pro136Ser VAR_062345 rs747305905
33 GLB1 p.Asp151Val VAR_062348
34 GLB1 p.Leu173Pro VAR_062349 rs397515617
35 GLB1 p.Gln184Arg VAR_062350
36 GLB1 p.Gly190Asp VAR_062351 rs756575833
37 GLB1 p.Tyr199Cys VAR_062353
38 GLB1 p.Gln255His VAR_062354 rs155361055
39 GLB1 p.Thr329Ile VAR_062357
40 GLB1 p.Asp332Glu VAR_062358
41 GLB1 p.Lys346Asn VAR_062360 rs749980306
42 GLB1 p.Tyr347Cys VAR_062361
43 GLB1 p.Thr420Pro VAR_062364 rs200181401
44 GLB1 p.Leu422Arg VAR_062365 rs758203004
45 GLB1 p.Asp441Asn VAR_062366 rs780724173
46 GLB1 p.Arg442Gln VAR_062367 rs564428355
47 GLB1 p.Pro597Ser VAR_062370
48 GLB1 p.Leu236Pro VAR_074056
49 GLB1 p.Leu337Pro VAR_074061 rs752177002
50 GLB1 p.Leu514Pro VAR_074064

Expression for Gm1-Gangliosidosis, Type I

Search GEO for disease gene expression data for Gm1-Gangliosidosis, Type I.

Pathways for Gm1-Gangliosidosis, Type I

Pathways related to Gm1-Gangliosidosis, Type I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 SMPD1 PSAP GLB1 GALC
2 11.21 SMPD1 PSAP NPC2 NPC1 GLB1 GALC
3
Show member pathways
10.3 NPC2 NPC1

GO Terms for Gm1-Gangliosidosis, Type I

Cellular components related to Gm1-Gangliosidosis, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.5 SMPD1 PSAP NPC2 NPC1 GLB1 GALC
2 exosome (RNase complex) GO:0000178 9.32 EXOSC9 EXOSC8
3 nuclear exosome (RNase complex) GO:0000176 9.26 EXOSC9 EXOSC8
4 cytoplasmic exosome (RNase complex) GO:0000177 9.16 EXOSC9 EXOSC8
5 lysosomal lumen GO:0043202 9.02 SMPD1 PSAP NPC2 GLB1 GALC

Biological processes related to Gm1-Gangliosidosis, Type I according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.73 PSAP NPC2 NPC1
2 cholesterol metabolic process GO:0008203 9.7 SMPD1 NPC2 NPC1
3 metabolic process GO:0008152 9.62 SMPD1 GLB1 GALC CHIT1
4 cholesterol efflux GO:0033344 9.58 NPC2 NPC1
5 low-density lipoprotein particle clearance GO:0034383 9.58 NPC2 NPC1
6 cholesterol transport GO:0030301 9.57 NPC2 NPC1
7 lysosomal transport GO:0007041 9.55 PSAP NPC1
8 rRNA catabolic process GO:0016075 9.54 EXOSC9 EXOSC8
9 intracellular cholesterol transport GO:0032367 9.51 NPC2 NPC1
10 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' GO:0034427 9.49 EXOSC9 EXOSC8
11 nuclear mRNA surveillance GO:0071028 9.48 EXOSC9 EXOSC8
12 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000467 9.46 EXOSC9 EXOSC8
13 U4 snRNA 3'-end processing GO:0034475 9.43 EXOSC9 EXOSC8
14 nuclear polyadenylation-dependent tRNA catabolic process GO:0071038 9.4 EXOSC9 EXOSC8
15 nuclear polyadenylation-dependent rRNA catabolic process GO:0071035 9.37 EXOSC9 EXOSC8
16 nuclear polyadenylation-dependent mRNA catabolic process GO:0071042 9.26 EXOSC9 EXOSC8
17 U5 snRNA 3'-end processing GO:0034476 9.16 EXOSC9 EXOSC8
18 U1 snRNA 3'-end processing GO:0034473 8.96 EXOSC9 EXOSC8
19 glycosphingolipid metabolic process GO:0006687 8.92 SMPD1 PSAP GLB1 GALC

Molecular functions related to Gm1-Gangliosidosis, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR AU-rich region binding GO:0035925 9.26 EXOSC9 EXOSC8
2 exoribonuclease activity GO:0004532 9.16 EXOSC9 EXOSC8
3 beta-galactosidase activity GO:0004565 8.96 PSAP GLB1
4 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 SMPD1 GLB1 GALC CHIT1

Sources for Gm1-Gangliosidosis, Type I

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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