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
Gangliosidosis Gm1 12 54
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 ii and gm1-gangliosidosis, type i. 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 spleen, 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 151)
# Related Disease Score Top Affiliating Genes
1 gm1-gangliosidosis, type ii 33.3 GM2A GLB1 CTSA
2 gm1-gangliosidosis, type i 32.3 PSAP NPC2 NPC1 GLB1 GALC ELN
3 morquio syndrome 30.9 TMPPE NEU1 GLB1 GALNS CTSA
4 gangliosidosis 30.8 UGCG TMPPE PSAP NEU1 HEXA GM2A
5 fabry disease 30.4 UGCG PSAP GLA CHIT1 ARSA
6 lysosomal disease 30.2 NEU1 GALC
7 angiokeratoma 30.2 UGCG NEU1 GLA CTSA
8 cerebral lipidosis 30.1 UGCG NPC1 GLB1 CHIT1
9 mucolipidosis ii alpha/beta 30.1 PSAP IDUA GM2A GALNS
10 galactosialidosis 30.1 PSAP NEU1 IDUA GLB1 GALNS CTSA
11 dystonia 30.1 NPC2 NPC1 GM2A GLB1 GALC ARSA
12 gingival hypertrophy 30.0 IDUA GLB1 ARSA
13 niemann-pick disease, type c1 29.6 UGCG PSAP NPC2 NPC1 ARSA
14 fucosidosis 29.5 IDUA GLB1 GALNS CHIT1 ARSB
15 mucopolysaccharidosis, type ivb 29.5 IDUA GLB1L3 GLB1 GALNS CTSA ARSB
16 mucolipidosis 29.4 PSAP NPC1 NEU1 HEXA GALNS CTSA
17 glycoproteinosis 29.3 PSAP NEU1 GLB1 GALNS CTSA CLN3
18 inherited metabolic disorder 29.3 NPC2 NPC1 IDUA GLA CLN3
19 leukodystrophy 29.3 PSAP IDUA GALC ARSB ARSA
20 hurler syndrome 29.2 NEU1 IDUA GLB1 GALNS CTSA ARSB
21 sandhoff disease 29.0 UGCG PSAP NPC2 NPC1 HEXA GM2A
22 gaucher's disease 28.7 UGCG PSAP NPC2 NPC1 IDUA HEXA
23 mucopolysaccharidosis, type ii 28.6 IDUA GLB1 GLA GALNS GALC ARSB
24 mucopolysaccharidosis iv 28.6 IDUA GLB1L3 GLB1 GLA GALNS GALC
25 gm2 gangliosidosis 28.6 UGCG PSAP NPC2 NPC1 NEU1 HEXA
26 mucopolysaccharidosis, type iva 28.6 IDUA GLB1 GLA GALNS GALC CTSA
27 niemann-pick disease 28.5 UGCG PSAP NPC2 NPC1 IDUA GM2A
28 krabbe disease 28.0 UGCG PSAP NPC2 NPC1 IDUA GLB1
29 tay-sachs disease 27.9 UGCG PSAP NPC2 NPC1 NEU1 IDUA
30 sphingolipidosis 27.7 UGCG PSAP NPC2 NPC1 IDUA HEXA
31 lysosomal storage disease 27.6 PSAP NPC2 NPC1 NEU1 IDUA HEXA
32 mucopolysaccharidosis-plus syndrome 27.3 NPC2 NPC1 NEU1 IDUA HEXA GLB1
33 gm1-gangliosidosis, type iii 12.0
34 generalized gangliosidoses 11.4
35 glb1-related disorders 10.6
36 dysostosis 10.5
37 myoclonus 10.5
38 ataxia and polyneuropathy, adult-onset 10.4
39 lysosomal storage disease with skeletal involvement 10.4
40 hypotonia 10.4
41 tremor 10.4
42 neuraminidase deficiency 10.3
43 autosomal recessive disease 10.3
44 dwarfism 10.3
45 metachromatic leukodystrophy, late infantile form 10.3 PSAP ARSA
46 metachromatic leukodystrophy, adult form 10.3 PSAP ARSA
47 3-methylglutaconic aciduria, type iii 10.2
48 neuronal ceroid lipofuscinosis 10.2
49 cholera 10.2
50 cerebral atrophy 10.2

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 Anti-HIV Agents Phase 4
4 Cardiac Glycosides Phase 4
5 Antiviral Agents Phase 4
6 Anti-Retroviral Agents Phase 4
7 Hypoglycemic Agents Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
10
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
13
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
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 Immunosuppressive Agents Phase 2, Phase 3
18 Methylprednisolone Acetate Phase 2, Phase 3
19 Immunologic Factors Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Alkylating Agents Phase 2, Phase 3
22 Antilymphocyte Serum Phase 2, Phase 3
23
Melphalan Approved Phase 2 148-82-3 4053 460612
24
tannic acid Approved Phase 2 1401-55-4
25
Hydroxyurea Approved Phase 2 127-07-1 3657
26
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
27
alemtuzumab Approved, Investigational Phase 2 216503-57-0
28
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
29
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
30
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
31
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
32
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
33
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
34
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
35
Chlorhexidine Approved, Vet_approved Phase 1, Phase 2 55-56-1 9552079 2713
36 Antimetabolites Phase 2
37 Cyclosporins Phase 2
38 Dermatologic Agents Phase 2
39 Calcineurin Inhibitors Phase 2
40 Protective Agents Phase 1, Phase 2
41 Antifungal Agents Phase 1, Phase 2
42 Antineoplastic Agents, Immunological Phase 1, Phase 2
43 Gastrointestinal Agents Phase 1, Phase 2
44 Antibiotics, Antitubercular Phase 1, Phase 2
45 Pharmaceutical Solutions Phase 1, Phase 2
46 Hormones Phase 1, Phase 2
47 Anti-Inflammatory Agents Phase 1, Phase 2
48 Anesthetics Phase 1, Phase 2
49 Hormone Antagonists Phase 1, Phase 2
50 Neuroprotective Agents 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 Beta-galactosidase in Type I and 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 Not yet 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 A Natural History Study of the Gangliosidoses Completed NCT00668187
9 Natural History Study Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1) Recruiting NCT04310163
10 Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients Recruiting NCT04041102
11 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Recruiting NCT04470713
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, Spleen, Retina, Brain, Heart, Bone Marrow

Publications for Gm1 Gangliosidosis

Articles related to Gm1 Gangliosidosis:

(show top 50) (show all 687)
# Title Authors PMID Year
1
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 54 6 61
17309651 2007
2
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 6 54 61
12644936 2003
3
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 6 61
10737981 2000
4
A common mutation site in the beta-galactosidase gene originates in Puerto Rico. 6 61
8652017 1996
5
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. 61 6
8198123 1994
6
Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis. 61 6
8199591 1994
7
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. 6 61
8213816 1993
8
A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis. 6 61
8500799 1993
9
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient. 6 61
1487238 1992
10
GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient. 61 6
1606711 1992
11
GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients. 6 61
1353343 1992
12
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. 6 61
1909089 1991
13
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. 6 61
1907800 1991
14
Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features. 61 6
6791574 1981
15
Human beta-galactosidase gene mutations in morquio B disease. 6
1928092 1991
16
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 61 54
19472408 2009
17
Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA. 61 54
18392450 2008
18
Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. 54 61
17661814 2007
19
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 61 54
17221873 2007
20
Profiling oligosaccharidurias by electrospray tandem mass spectrometry: quantifying reducing oligosaccharides. 61 54
16111643 2005
21
Sphingolipidoses in Turkey. 54 61
15275696 2004
22
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]. 61 54
14997456 2004
23
Correction of acid beta-galactosidase deficiency in GM1 gangliosidosis human fibroblasts by retrovirus vector-mediated gene transfer: higher efficiency of release and cross-correction by the murine enzyme. 54 61
10757351 2000
24
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. 61 54
10571006 1999
25
Broad screening test for sphingolipid-storage diseases. 61 54
10489949 1999
26
Inherited metabolic disorders in Thailand--Siriraj experience. 61 54
11400749 1999
27
[beta-Galactosidosis (acid beta-galactosidase deficiency: GM1 gangliosidosis, Morquio B disease)]. 54 61
9645093 1998
28
Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis. 54 61
9105659 1997
29
Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases. 54 61
2110365 1990
30
A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis. 61
33394287 2021
31
A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy. 61
33583210 2021
32
Morquio B disease: From pathophysiology towards diagnosis. 61
33558080 2021
33
Mongolian spots in GM1 gangliosidosis: a pictorial report. 61
33038107 2021
34
Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry. 61
32506457 2021
35
A Single Injection of an Optimized Adeno-Associated Viral Vector into Cerebrospinal Fluid Corrects Neurological Disease in a Murine Model of GM1 Gangliosidosis. 61
33045869 2020
36
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex. 61
33266180 2020
37
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience. 61
32779865 2020
38
Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice. 61
31481471 2020
39
Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency 61
32727849 2020
40
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support. 61
32219895 2020
41
Utility of metabolic screening in neurological presentations of infancy. 61
32495504 2020
42
7T MRI Predicts Amelioration of Neurodegeneration in the Brain after AAV Gene Therapy. 61
31970203 2020
43
Novel Drug Candidates Improve Ganglioside Accumulation and Neural Dysfunction in GM1 Gangliosidosis Models with Autophagy Activation. 61
32302553 2020
44
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis. 61
32219518 2020
45
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. 61
32134517 2020
46
Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GM1-Gangliosidosis. 61
32252429 2020
47
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis. 61
31937438 2020
48
The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention. 61
31704340 2020
49
Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies. 61
32050523 2020
50
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel. 61
32071839 2020

Variations for Gm1 Gangliosidosis

ClinVar genetic disease variations for Gm1 Gangliosidosis:

6 (show top 50) (show all 334)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLB1 NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) SNV Pathogenic 923 rs72555358 3:33114136-33114136 3:33072644-33072644
2 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 3:33058311-33058311 3:33016819-33016819
3 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 3:33099713-33099713 3:33058221-33058221
4 GLB1 NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) SNV Pathogenic 926 rs72555390 3:33114129-33114129 3:33072637-33072637
5 GLB1 NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) SNV Pathogenic 928 rs28934274 3:33110341-33110341 3:33068849-33068849
6 GLB1 NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) SNV Pathogenic 929 rs72555361 3:33093258-33093258 3:33051766-33051766
7 GLB1 NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) SNV Pathogenic 930 rs28934886 3:33058310-33058310 3:33016818-33016818
8 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 3:33058235-33058235 3:33016743-33016743
9 GLB1 NM_000404.4(GLB1):c.245C>T (p.Thr82Met) SNV Pathogenic 935 rs72555393 3:33114036-33114036 3:33072544-33072544
10 GLB1 NM_000404.4(GLB1):c.75+2dup Duplication Pathogenic 936 rs587776525 3:33138500-33138501 3:33097008-33097009
11 GLB1 NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) SNV Pathogenic 944 rs72555370 3:33114079-33114079 3:33072587-33072587
12 GLB1 NM_000404.2(GLB1):c.1069_1233dup Duplication Pathogenic 927
13 GLB1 NM_000404.4(GLB1):c.256_278dup (p.Gln95fs) Duplication Pathogenic 934 rs587776524 3:33110429-33110430 3:33068937-33068938
14 GLB1 NM_000404.4(GLB1):c.1188dup (p.Pro397fs) Duplication Pathogenic 100725 rs587779403 3:33063102-33063103 3:33021610-33021611
15 GLB1 NM_000404.2:c.672_673delAT Deletion Pathogenic 100726
16 GLB1 NM_000404.4(GLB1):c.922T>C (p.Phe308Leu) SNV Pathogenic 100727 rs587779404 3:33093283-33093283 3:33051791-33051791
17 GLB1 NM_000404.4(GLB1):c.1318C>T (p.His440Tyr) SNV Pathogenic 827672 rs1575414831 3:33059969-33059969 3:33018477-33018477
18 GLB1 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) SNV Pathogenic 194596 rs794727165 3:33038803-33038803 3:32997311-32997311
19 GLB1 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) Duplication Pathogenic 202191 rs794729217 3:33055704-33055705 3:33014212-33014213
20 GLB1 NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) SNV Pathogenic 928 rs28934274 3:33110341-33110341 3:33068849-33068849
21 GLB1 NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) SNV Pathogenic 252985 rs371582179 3:33055549-33055549 3:33014057-33014057
22 GLB1 NM_000404.4(GLB1):c.602G>A (p.Arg201His) SNV Pathogenic 198077 rs189115557 3:33099712-33099712 3:33058220-33058220
23 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 3:33099713-33099713 3:33058221-33058221
24 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 3:33099713-33099713 3:33058221-33058221
25 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 3:33114035-33114035 3:33072543-33072543
26 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 3:33058235-33058235 3:33016743-33016743
27 GLB1 NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) SNV Pathogenic 528328 rs564428355 3:33059962-33059962 3:33018470-33018470
28 GLB1 NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) SNV Pathogenic 941 rs72555372 3:33087629-33087629 3:33046137-33046137
29 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 3:33058311-33058311 3:33016819-33016819
30 GLB1 NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) SNV Pathogenic 264673 rs748830051 3:33110432-33110432 3:33068940-33068940
31 GLB1 NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) SNV Pathogenic 926 rs72555390 3:33114129-33114129 3:33072637-33072637
32 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 3:33093443-33093443 3:33051951-33051951
33 GLB1 NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) SNV Pathogenic 553205 rs778700089 3:33109733-33109733 3:33068241-33068241
34 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 3:33114035-33114035 3:33072543-33072543
35 GLB1 NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) SNV Pathogenic 284172 rs376663785 3:33093481-33093481 3:33051989-33051989
36 GLB1 NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) Indel Pathogenic 568792 rs1559401428 3:33093471-33093472 3:33051979-33051980
37 GLB1 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) SNV Pathogenic 194596 rs794727165 3:33038803-33038803 3:32997311-32997311
38 GLB1 NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) SNV Pathogenic 923 rs72555358 3:33114136-33114136 3:33072644-33072644
39 GLB1 NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) SNV Pathogenic 944 rs72555370 3:33114079-33114079 3:33072587-33072587
40 GLB1 NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) SNV Pathogenic 264673 rs748830051 3:33110432-33110432 3:33068940-33068940
41 GLB1 NM_000404.4(GLB1):c.553-1G>C SNV Pathogenic 639100 rs1575459735 3:33099762-33099762 3:33058270-33058270
42 GLB1 NM_000404.4(GLB1):c.75+2dup Duplication Pathogenic 936 rs587776525 3:33138500-33138501 3:33097008-33097009
43 GLB1 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) Duplication Pathogenic 202191 rs794729217 3:33055704-33055705 3:33014212-33014213
44 GLB1 NM_000404.4(GLB1):c.163del (p.Ile55fs) Deletion Pathogenic 657106 rs1575475703 3:33114118-33114118 3:33072626-33072626
45 GLB1 NM_000404.4(GLB1):c.602G>A (p.Arg201His) SNV Pathogenic 198077 rs189115557 3:33099712-33099712 3:33058220-33058220
46 GLB1 NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) SNV Pathogenic 940 rs72555367 3:33059974-33059974 3:33018482-33018482
47 GLB1 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) Duplication Pathogenic 202191 rs794729217 3:33055704-33055705 3:33014212-33014213
48 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 3:33093443-33093443 3:33051951-33051951
49 GLB1 NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) SNV Pathogenic 496895 rs756878418 3:33114106-33114106 3:33072614-33072614
50 GLB1 NM_000404.4(GLB1):c.716C>T (p.Thr239Met) SNV Pathogenic 807421 rs746766232 3:33099598-33099598 3:33058106-33058106

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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