MCID: GM1007
MIFTS: 65

Gm1 Gangliosidosis

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

Aliases & Classifications for Gm1 Gangliosidosis

MalaCards integrated aliases for Gm1 Gangliosidosis:

Name: Gm1 Gangliosidosis 12 20 43 58 36 29 6 15
Beta-Galactosidase Deficiency 12 6 70
Gangliosidosis Gm1 12 54 70
Beta-Galactosidase-1 Deficiency 43
Deficiency of Beta-Galactosidase 12
Beta-Galactosidase-1 Deficiency 58
Beta Galactosidase 1 Deficiency 20
Beta-Galactosidosis 20
Gangliosidosis, Gm1 44
Glb 1 Deficiency 20
Glb1 Deficiency 58
Landing Disease 58

Characteristics:

Orphanet epidemiological data:

58
gm1 gangliosidosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-5/10000 (Malta),1-9/100000 (Brazil),1-9/1000000 (Sweden); Age of onset: Childhood; Age of death: any age;

Classifications:

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


Summaries for Gm1 Gangliosidosis

MedlinePlus Genetics : 43 GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.The signs and symptoms of the most severe form of GM1 gangliosidosis, called type I or the infantile form, usually become apparent by the age of 6 months. Infants with this form of the disorder typically appear normal until their development slows and muscles used for movement weaken. Affected infants eventually lose the skills they had previously acquired (developmentally regress) and may develop an exaggerated startle reaction to loud noises. As the disease progresses, children with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly), skeletal abnormalities, seizures, profound intellectual disability, and clouding of the clear outer covering of the eye (the cornea). Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. In some cases, affected individuals have distinctive facial features that are described as "coarse," enlarged gums (gingival hypertrophy), and an enlarged and weakened heart muscle (cardiomyopathy). Individuals with GM1 gangliosidosis type I usually do not survive past early childhood.Type II GM1 gangliosidosis consists of intermediate forms of the condition, also known as the late infantile and juvenile forms. Children with GM1 gangliosidosis type II have normal early development, but they begin to develop signs and symptoms of the condition around the age of 18 months (late infantile form) or 5 years (juvenile form). Individuals with GM1 gangliosidosis type II experience developmental regression but usually do not have cherry-red spots, distinctive facial features, or enlarged organs. Type II usually progresses more slowly than type I, but still causes a shortened life expectancy. People with the late infantile form typically survive into mid-childhood, while those with the juvenile form may live into early adulthood.The third type of GM1 gangliosidosis is known as the adult or chronic form, and it represents the mildest end of the disease spectrum. The age at which symptoms first appear varies in GM1 gangliosidosis type III, although most affected individuals develop signs and symptoms in their teens. The characteristic features of this type include involuntary tensing of various muscles (dystonia) and abnormalities of the spinal bones (vertebrae). Life expectancy varies among people with GM1 gangliosidosis type III.

MalaCards based summary : Gm1 Gangliosidosis, also known as beta-galactosidase deficiency, is related to gm1-gangliosidosis, type iii and gm1-gangliosidosis, type ii. An important gene associated with Gm1 Gangliosidosis is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Other glycan degradation and Glycosaminoglycan degradation. The drugs Miglustat and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are hyperreflexia and nystagmus

Disease Ontology : 12 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.

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.

KEGG : 36 GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues and a highly variable storage of keratan sulfate and glycopeptides in visceral and skeletal tissues. There are three main clinical variants, infantile (type I), juvenile (type II), and adult (type III), categorized by severity of symptoms and variable residual enzymatic activity of beta-galactosidase.

Related Diseases for Gm1 Gangliosidosis

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 gm1-gangliosidosis, type iii 33.5 TMPPE GLB1
2 gm1-gangliosidosis, type ii 33.4 TMPPE GM2A GLB1 CTSA
3 gm1-gangliosidosis, type i 32.8 TMPPE PSAP NPC2 NPC1 GLB1 GALC
4 gangliosidosis 31.5 UGCG TMPPE PSAP NEU1 HEXA GM2A
5 morquio syndrome 31.1 TMPPE NEU1 GLB1 GALNS CTSA
6 mucopolysaccharidosis, type ivb 31.0 TMPPE IDUA GLB1L3 GLB1 GLA GALNS
7 fabry disease 30.7 UGCG PSAP GLA CHIT1 ARSA
8 mucopolysaccharidosis iv 30.6 TMPPE IDUA GLB1L3 GLB1 GLA GALNS
9 galactosialidosis 30.6 PSAP NEU1 IDUA GLB1 GALNS CTSA
10 lysosomal disease 30.5 NEU1 GALC
11 neuronal ceroid lipofuscinosis 30.4 PSAP NPC2 NPC1 CLN3
12 mucolipidosis ii alpha/beta 30.4 PSAP NPC1 IDUA GM2A GALNS
13 angiokeratoma 30.4 UGCG NEU1 GLA CTSA
14 cerebral lipidosis 30.4 UGCG NPC1 GLB1 CHIT1
15 fucosidosis 30.3 IDUA GLB1 GALNS CHIT1 ARSB
16 glycoproteinosis 30.3 PSAP NEU1 GLB1 GALNS CTSA CLN3
17 lysosomal acid lipase deficiency 30.3 NPC2 NPC1 CHIT1
18 leukodystrophy 30.2 PSAP IDUA GALC ARSB ARSA
19 inherited metabolic disorder 30.2 NPC2 NPC1 IDUA GLA CLN3
20 niemann-pick disease, type c1 30.1 UGCG PSAP NPC2 NPC1 ARSA
21 hurler syndrome 30.0 NEU1 IDUA GLB1 GALNS CTSA ARSB
22 sandhoff disease 29.8 UGCG PSAP NPC2 NPC1 HEXA GM2A
23 gaucher's disease 29.8 UGCG PSAP NPC2 NPC1 IDUA HEXA
24 mucopolysaccharidosis, type ii 29.7 IDUA GLB1 GLA GALNS GALC ARSB
25 gm2 gangliosidosis 29.7 UGCG PSAP NPC2 NPC1 NEU1 HEXA
26 mucopolysaccharidosis, type iva 29.7 IDUA GLB1 GLA GALNS GALC CTSA
27 niemann-pick disease 29.7 UGCG PSAP NPC2 NPC1 GM2A GLA
28 lysosomal storage disease 29.6 PSAP NPC2 NPC1 NEU1 IDUA HEXA
29 krabbe disease 29.5 UGCG PSAP NPC2 NPC1 IDUA GLB1
30 mucolipidosis 29.4 PSAP NPC2 NPC1 NEU1 IDUA HEXA
31 tay-sachs disease 29.3 UGCG PSAP NPC2 NPC1 NEU1 IDUA
32 sphingolipidosis 28.9 UGCG PSAP NPC2 NPC1 IDUA HEXA
33 mucopolysaccharidosis-plus syndrome 28.8 NPC2 NPC1 NEU1 IDUA HEXA GM2A
34 generalized gangliosidoses 11.4
35 dystonia 10.6
36 glb1-related disorders 10.6
37 dysostosis 10.5
38 myoclonus 10.5
39 ataxia and polyneuropathy, adult-onset 10.4
40 lysosomal storage disease with skeletal involvement 10.4
41 metachromatic leukodystrophy, late infantile form 10.4 PSAP ARSA
42 metachromatic leukodystrophy, adult form 10.4 PSAP ARSA
43 hypotonia 10.4
44 tremor 10.4
45 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC2 NPC1
46 niemann-pick disease type c, adult neurologic onset 10.3 NPC2 NPC1
47 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC2 NPC1
48 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC2 NPC1
49 niemann-pick disease type c, severe perinatal form 10.3 NPC2 NPC1
50 neuraminidase deficiency 10.3

Graphical network of the top 20 diseases related to Gm1 Gangliosidosis:



Diseases related to Gm1 Gangliosidosis

Symptoms & Phenotypes for Gm1 Gangliosidosis

Human phenotypes related to Gm1 Gangliosidosis:

58 31 (show top 50) (show all 92)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 encephalitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002383
4 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
5 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
6 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
7 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
8 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
9 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
10 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
11 abnormal diaphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000940
12 brain imaging abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0410263
13 decreased beta-galactosidase activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0008166
14 ganglioside accumulation 31 hallmark (90%) HP:0004345
15 coarse metaphyseal trabecularization 31 hallmark (90%) HP:0100670
16 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
17 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
18 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
19 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
20 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
21 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
22 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
23 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
24 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
25 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
26 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
27 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
28 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
29 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
30 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
31 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
32 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
33 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
34 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
35 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
36 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
37 generalized dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0007325
38 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
39 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
40 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
41 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
42 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
43 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
44 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
45 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
46 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
47 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
48 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
49 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
50 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618

MGI Mouse Phenotypes related to Gm1 Gangliosidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 ARSA ARSB CLN3 CTSA GALC GLA
2 cellular MP:0005384 10.27 ARSB CLN3 CTSA GALC GALNS GLA
3 growth/size/body region MP:0005378 10.25 ARSB CLN3 CTSA GALC GLA GLB1
4 homeostasis/metabolism MP:0005376 10.24 ARSA ARSB CLN3 CTSA GALC GALNS
5 hematopoietic system MP:0005397 10.14 ARSA ARSB CLN3 CTSA GALC GLB1
6 immune system MP:0005387 10.1 ARSA CHIT1 CLN3 CTSA GALC GLA
7 liver/biliary system MP:0005370 10 CLN3 CTSA GALC GLA GLB1 HEXA
8 nervous system MP:0003631 10 ARSA ARSB CLN3 GALC GLA GLB1
9 renal/urinary system MP:0005367 9.73 ARSB CLN3 CTSA GALC GALNS GLA
10 vision/eye MP:0005391 9.32 ARSB CLN3 GALC GALNS GLA HEXA

Drugs & Therapeutics for Gm1 Gangliosidosis

Drugs for Gm1 Gangliosidosis (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 Hypoglycemic Agents Phase 4
4 Anti-Retroviral Agents Phase 4
5 Anti-HIV Agents Phase 4
6 Antiviral Agents Phase 4
7 Glycoside Hydrolase Inhibitors Phase 4
8 Cardiac Glycosides Phase 4
9
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
10
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
11
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
12
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
13
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
14
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
15
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Antirheumatic Agents Phase 2, Phase 3
18 Methylprednisolone Acetate Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Immunologic Factors Phase 2, Phase 3
21 Alkylating Agents Phase 2, Phase 3
22 Antilymphocyte Serum Phase 2, Phase 3
23
tannic acid Approved Phase 2 1401-55-4
24
Hydroxyurea Approved Phase 2 127-07-1 3657
25
Melphalan Approved Phase 2 148-82-3 4053 460612
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
Chlorhexidine Approved, Vet_approved Phase 1, Phase 2 55-56-1 9552079 2713
30
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
31
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
32
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
33
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
34
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
35
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
36
Lysine Approved, Nutraceutical Phase 1, Phase 2 56-87-1 5962
37 Calcineurin Inhibitors Phase 2
38 Cyclosporins Phase 2
39 Antimetabolites Phase 2
40 Dermatologic Agents Phase 2
41 Gastrointestinal Agents Phase 1, Phase 2
42 Antineoplastic Agents, Immunological Phase 1, Phase 2
43 Antiemetics Phase 1, Phase 2
44 Hormones Phase 1, Phase 2
45 Anesthetics Phase 1, Phase 2
46 Anti-Bacterial Agents Phase 1, Phase 2
47 Antibiotics, Antitubercular Phase 1, Phase 2
48 Neuroprotective Agents Phase 1, Phase 2
49 Chlorhexidine gluconate Phase 1, Phase 2
50 Hormone Antagonists 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 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
6 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
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 Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1) Recruiting NCT04310163
9 Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients Recruiting NCT04041102
10 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Recruiting NCT04470713
11 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
12 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
13 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
14 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329

Search NIH Clinical Center for Gm1 Gangliosidosis

Cochrane evidence based reviews: gangliosidosis, gm1

Genetic Tests for Gm1 Gangliosidosis

Genetic tests related to Gm1 Gangliosidosis:

# Genetic test Affiliating Genes
1 Gm1 Gangliosidosis 29

Anatomical Context for Gm1 Gangliosidosis

MalaCards organs/tissues related to Gm1 Gangliosidosis:

40
Eye, Spinal Cord, Brain, Spleen, Retina, Liver, Heart

Publications for Gm1 Gangliosidosis

Articles related to Gm1 Gangliosidosis:

(show top 50) (show all 705)
# Title Authors PMID Year
1
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 61 54 6
19472408 2009
2
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 54 6 61
17309651 2007
3
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 54 61 6
17221873 2007
4
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 61 54 6
12644936 2003
5
The Clinical and Molecular Spectrum of GM1 Gangliosidosis. 61 6
31761138 2019
6
[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis]. 61 6
30675867 2019
7
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. 61 6
30555092 2018
8
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. 6 61
30267299 2018
9
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. 6 61
29439846 2018
10
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. 6 61
29352662 2018
11
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 6 61
29451896 2018
12
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. 6 61
29160035 2018
13
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene. 61 6
28716012 2017
14
(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. 61 6
27750150 2017
15
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 61 6
27679996 2016
16
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 61 6
26646981 2016
17
Recurrent and novel GLB1 mutations in India. 61 6
25936995 2015
18
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 6 61
25443580 2015
19
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 6 61
25600812 2015
20
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 61 6
25557439 2015
21
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 61 6
26108645 2015
22
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. 61 6
24777551 2014
23
GLB1-Related Disorders 61 6
24156116 2013
24
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. 6 61
23831247 2013
25
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 6 61
23337983 2013
26
β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype. 61 6
23430499 2013
27
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE. 6 61
23430803 2013
28
Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. 61 6
23151865 2012
29
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. 6 61
22675082 2012
30
Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis. 61 6
22234367 2012
31
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. 61 6
21214877 2012
32
A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene. 61 6
22371915 2012
33
Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 6 61
22128166 2012
34
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 61 6
21497194 2011
35
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 6 61
20175788 2010
36
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. 61 6
20920281 2010
37
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts. 61 6
20409738 2010
38
Structural bases of GM1 gangliosidosis and Morquio B disease. 6 61
19644515 2009
39
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. 6 61
18571950 2009
40
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. 6 61
18524657 2008
41
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 6 61
17664528 2007
42
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. 6 61
16941474 2006
43
Fibroblast screening for chaperone therapy in beta-galactosidosis. 6 61
16617000 2006
44
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. 61 6
16314480 2005
45
Dystonia and parkinsonism in GM1 type 3 gangliosidosis. 61 6
15986423 2005
46
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 61 6
15714521 2005
47
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village. 6 61
15943552 2005
48
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 61 6
15365997 2004
49
Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease. 6 61
12393180 2002
50
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B. 61 6
11511921 2001

Variations for Gm1 Gangliosidosis

ClinVar genetic disease variations for Gm1 Gangliosidosis:

6 (show top 50) (show all 351)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLB1 NM_000404.2(GLB1):c.1069_1233dup Duplication Pathogenic 927 GRCh37:
GRCh38:
2 GLB1 NM_000404.4(GLB1):c.256_278dup (p.Gln95fs) Duplication Pathogenic 934 rs587776524 GRCh37: 3:33110429-33110430
GRCh38: 3:33068937-33068938
3 GLB1 NM_000404.4(GLB1):c.1188dup (p.Pro397fs) Duplication Pathogenic 100725 rs587779403 GRCh37: 3:33063102-33063103
GRCh38: 3:33021610-33021611
4 GLB1 NM_000404.2:c.672_673delAT Deletion Pathogenic 100726 GRCh37:
GRCh38:
5 GLB1 NM_000404.4(GLB1):c.922T>C (p.Phe308Leu) SNV Pathogenic 100727 rs587779404 GRCh37: 3:33093283-33093283
GRCh38: 3:33051791-33051791
6 GLB1 NM_000404.4(GLB1):c.1318C>T (p.His440Tyr) SNV Pathogenic 827672 rs1575414831 GRCh37: 3:33059969-33059969
GRCh38: 3:33018477-33018477
7 GLB1 NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) SNV Pathogenic 930 rs28934886 GRCh37: 3:33058310-33058310
GRCh38: 3:33016818-33016818
8 GLB1 NM_000404.4(GLB1):c.716C>T (p.Thr239Met) SNV Pathogenic 807421 rs746766232 GRCh37: 3:33099598-33099598
GRCh38: 3:33058106-33058106
9 GLB1 NM_000404.4(GLB1):c.699del (p.Gln234fs) Deletion Pathogenic 928700 GRCh37: 3:33099615-33099615
GRCh38: 3:33058123-33058123
10 GLB1 NM_000404.4(GLB1):c.1254C>G (p.Tyr418Ter) SNV Pathogenic 973577 GRCh37: 3:33060033-33060033
GRCh38: 3:33018541-33018541
11 GLB1 NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) SNV Pathogenic 923 rs72555358 GRCh37: 3:33114136-33114136
GRCh38: 3:33072644-33072644
12 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
13 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 GRCh37: 3:33099713-33099713
GRCh38: 3:33058221-33058221
14 GLB1 NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) SNV Pathogenic 926 rs72555390 GRCh37: 3:33114129-33114129
GRCh38: 3:33072637-33072637
15 GLB1 NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) SNV Pathogenic 928 rs28934274 GRCh37: 3:33110341-33110341
GRCh38: 3:33068849-33068849
16 GLB1 NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) SNV Pathogenic 929 rs72555361 GRCh37: 3:33093258-33093258
GRCh38: 3:33051766-33051766
17 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 GRCh37: 3:33058235-33058235
GRCh38: 3:33016743-33016743
18 GLB1 NM_000404.4(GLB1):c.245C>T (p.Thr82Met) SNV Pathogenic 935 rs72555393 GRCh37: 3:33114036-33114036
GRCh38: 3:33072544-33072544
19 GLB1 , TMPPE NM_000404.4(GLB1):c.75+2dup Duplication Pathogenic 936 rs587776525 GRCh37: 3:33138500-33138501
GRCh38: 3:33097008-33097009
20 GLB1 NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) SNV Pathogenic 944 rs72555370 GRCh37: 3:33114079-33114079
GRCh38: 3:33072587-33072587
21 GLB1 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) SNV Pathogenic 194596 rs794727165 GRCh37: 3:33038803-33038803
GRCh38: 3:32997311-32997311
22 GLB1 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) Duplication Pathogenic 202191 rs794729217 GRCh37: 3:33055704-33055705
GRCh38: 3:33014212-33014213
23 GLB1 NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) SNV Pathogenic 928 rs28934274 GRCh37: 3:33110341-33110341
GRCh38: 3:33068849-33068849
24 GLB1 NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) SNV Pathogenic 252985 rs371582179 GRCh37: 3:33055549-33055549
GRCh38: 3:33014057-33014057
25 GLB1 NM_000404.4(GLB1):c.602G>A (p.Arg201His) SNV Pathogenic 198077 rs189115557 GRCh37: 3:33099712-33099712
GRCh38: 3:33058220-33058220
26 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 GRCh37: 3:33099713-33099713
GRCh38: 3:33058221-33058221
27 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 GRCh37: 3:33099713-33099713
GRCh38: 3:33058221-33058221
28 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
29 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 GRCh37: 3:33058235-33058235
GRCh38: 3:33016743-33016743
30 GLB1 NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) SNV Pathogenic 528328 rs564428355 GRCh37: 3:33059962-33059962
GRCh38: 3:33018470-33018470
31 GLB1 NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) SNV Pathogenic 941 rs72555372 GRCh37: 3:33087629-33087629
GRCh38: 3:33046137-33046137
32 GLB1 , TMPPE NM_000404.4(GLB1):c.75+2dup Duplication Pathogenic 936 rs587776525 GRCh37: 3:33138500-33138501
GRCh38: 3:33097008-33097009
33 GLB1 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) Duplication Pathogenic 202191 rs794729217 GRCh37: 3:33055704-33055705
GRCh38: 3:33014212-33014213
34 GLB1 NM_000404.4(GLB1):c.1697C>A (p.Pro566His) SNV Pathogenic 645125 rs1575410340 GRCh37: 3:33055585-33055585
GRCh38: 3:33014093-33014093
35 GLB1 NM_000404.4(GLB1):c.841C>T (p.His281Tyr) SNV Pathogenic 372371 rs745386663 GRCh37: 3:33093448-33093448
GRCh38: 3:33051956-33051956
36 GLB1 NM_000404.4(GLB1):c.163del (p.Ile55fs) Deletion Pathogenic 657106 rs1575475703 GRCh37: 3:33114118-33114118
GRCh38: 3:33072626-33072626
37 GLB1 NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) SNV Pathogenic 264673 rs748830051 GRCh37: 3:33110432-33110432
GRCh38: 3:33068940-33068940
38 GLB1 NM_000404.4(GLB1):c.553-1G>C SNV Pathogenic 639100 rs1575459735 GRCh37: 3:33099762-33099762
GRCh38: 3:33058270-33058270
39 GLB1 NM_000404.4(GLB1):c.602G>A (p.Arg201His) SNV Pathogenic 198077 rs189115557 GRCh37: 3:33099712-33099712
GRCh38: 3:33058220-33058220
40 GLB1 NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) SNV Pathogenic 940 rs72555367 GRCh37: 3:33059974-33059974
GRCh38: 3:33018482-33018482
41 GLB1 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) Duplication Pathogenic 202191 rs794729217 GRCh37: 3:33055704-33055705
GRCh38: 3:33014212-33014213
42 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 GRCh37: 3:33093443-33093443
GRCh38: 3:33051951-33051951
43 GLB1 NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) SNV Pathogenic 496895 rs756878418 GRCh37: 3:33114106-33114106
GRCh38: 3:33072614-33072614
44 GLB1 NM_000404.4(GLB1):c.602G>A (p.Arg201His) SNV Pathogenic 198077 rs189115557 GRCh37: 3:33099712-33099712
GRCh38: 3:33058220-33058220
45 GLB1 NC_000003.12:g.(?_33097001)_(33097095_?)del Deletion Pathogenic 832564 GRCh37: 3:33138493-33138587
GRCh38:
46 GLB1 NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) SNV Pathogenic 252985 rs371582179 GRCh37: 3:33055549-33055549
GRCh38: 3:33014057-33014057
47 GLB1 NM_000404.4(GLB1):c.733+1G>A SNV Pathogenic 553125 rs1041204916 GRCh37: 3:33099580-33099580
GRCh38: 3:33058088-33058088
48 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 GRCh37: 3:33099713-33099713
GRCh38: 3:33058221-33058221
49 GLB1 NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer) Deletion Pathogenic 817580 rs767704163 GRCh37: 3:33093407-33093408
GRCh38: 3:33051915-33051916
50 GLB1 NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp) SNV Pathogenic 973576 GRCh37: 3:33060032-33060032
GRCh38: 3:33018540-33018540

Expression for Gm1 Gangliosidosis

Search GEO for disease gene expression data for Gm1 Gangliosidosis.

Pathways for Gm1 Gangliosidosis

Pathways related to Gm1 Gangliosidosis according to KEGG:

36
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Glycosaminoglycan degradation hsa00531
3 Sphingolipid metabolism hsa00600
4 Glycosphingolipid biosynthesis - ganglio series hsa00604
5 Lysosome hsa04142

Pathways related to Gm1 Gangliosidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 UGCG PSAP NPC2 NPC1 NEU1 IDUA
2
Show member pathways
13.7 PSAP NPC2 NEU1 GM2A GLB1 GLA
3
Show member pathways
12.55 IDUA HEXA GLB1 CHIT1 ARSB
4
Show member pathways
12.27 IDUA HEXA GLB1 ARSB
5
Show member pathways
12.1 UGCG PSAP NEU1 HEXA GM2A GLB1
6 11.61 PSAP NPC2 NPC1 NEU1 IDUA HEXA
7
Show member pathways
10.85 IDUA HEXA GLB1 GALNS ARSB
8 10.75 NEU1 HEXA GLB1
9
Show member pathways
10.58 NPC2 NPC1

GO Terms for Gm1 Gangliosidosis

Cellular components related to Gm1 Gangliosidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.13 PSAP NPC2 NPC1 NEU1 GM2A GLB1
2 extracellular exosome GO:0070062 10.07 PSAP NPC2 NPC1 NEU1 IDUA HEXA
3 intracellular membrane-bounded organelle GO:0043231 9.91 PSAP NEU1 HEXA GM2A GLB1 CTSA
4 lysosomal membrane GO:0005765 9.8 PSAP NPC1 NEU1 CTSA CLN3
5 lysosomal lumen GO:0043202 9.77 PSAP NPC2 NEU1 IDUA HEXA GM2A
6 azurophil granule lumen GO:0035578 9.76 NPC2 GM2A GLB1 GLA GALNS CTSA
7 vacuole GO:0005773 9.54 GLB1L3 GLB1 CLN3
8 lysosome GO:0005764 9.53 PSAP NPC2 NPC1 NEU1 IDUA HEXA

Biological processes related to Gm1 Gangliosidosis according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10 UGCG PSAP NPC2 NPC1 NEU1 GM2A
2 lipid transport GO:0006869 9.8 PSAP NPC2 NPC1 GM2A
3 carbohydrate metabolic process GO:0005975 9.8 NEU1 IDUA HEXA GLB1L3 GLB1 GLA
4 metabolic process GO:0008152 9.76 NEU1 IDUA HEXA GLB1L3 GLB1 GLA
5 neutrophil degranulation GO:0043312 9.7 PSAP NPC2 NEU1 GM2A GLB1 GLA
6 sphingolipid metabolic process GO:0006665 9.67 UGCG PSAP GM2A GALC
7 lysosomal transport GO:0007041 9.65 PSAP NPC1 ARSB
8 chondroitin sulfate catabolic process GO:0030207 9.61 IDUA HEXA ARSB
9 glycosaminoglycan catabolic process GO:0006027 9.59 IDUA GLB1
10 cholesterol efflux GO:0033344 9.58 NPC2 NPC1
11 low-density lipoprotein particle clearance GO:0034383 9.58 NPC2 NPC1
12 keratan sulfate catabolic process GO:0042340 9.58 HEXA GLB1 GALNS
13 cholesterol transport GO:0030301 9.57 NPC2 NPC1
14 intracellular cholesterol transport GO:0032367 9.56 NPC2 NPC1
15 response to pH GO:0009268 9.55 ARSB ARSA
16 oligosaccharide catabolic process GO:0009313 9.54 NEU1 GM2A
17 response to methylmercury GO:0051597 9.52 ARSB ARSA
18 glycolipid transport GO:0046836 9.51 NPC2 CLN3
19 ganglioside catabolic process GO:0006689 9.5 NEU1 HEXA GM2A
20 glycosphingolipid metabolic process GO:0006687 9.32 UGCG PSAP NEU1 HEXA GM2A GLB1

Molecular functions related to Gm1 Gangliosidosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10 TMPPE NEU1 IDUA HEXA GM2A GLB1L3
2 catalytic activity GO:0003824 9.89 GLA GALNS GALC ARSB ARSA
3 enzyme activator activity GO:0008047 9.63 PSAP GM2A CTSA
4 sulfuric ester hydrolase activity GO:0008484 9.54 GALNS ARSB ARSA
5 arylsulfatase activity GO:0004065 9.5 GALNS ARSB ARSA
6 galactoside binding GO:0016936 9.48 GLB1 GLA
7 beta-N-acetylhexosaminidase activity GO:0004563 9.43 HEXA GM2A
8 beta-galactosidase activity GO:0004565 9.43 PSAP GLB1L3 GLB1
9 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 IDUA HEXA GLB1L3 GLB1 GLA CHIT1
10 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.4 GALNS ARSB
11 hydrolase activity, acting on glycosyl bonds GO:0016798 9.23 NEU1 IDUA HEXA GLB1L3 GLB1 GLA

Sources for Gm1 Gangliosidosis

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....