MCID: GM1004
MIFTS: 41

Gm1-Gangliosidosis, Type I

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

Aliases & Classifications for Gm1-Gangliosidosis, Type I

MalaCards integrated aliases for Gm1-Gangliosidosis, Type I:

Name: Gm1-Gangliosidosis, Type I 53 13
Beta-Galactosidase-1 Deficiency 53 49 71
Gangliosidosis, Generalized Gm1, Type 1 53 69
Gangliosidosis Generalized Gm1 Type 1 49 71
Infantile Gm1 Gangliosidosis 55 28
Gm1 Gangliosidosis Type 1 49 55
Glb1 Deficiency 53 71
Gangliosidosis, Generalized Gm1, Infantile Form 53
Gangliosidosis Generalized Gm1 Infantile Form 49
Gangliosidosis Generalized Gm1 Infantile Type 71
Gangliosidosis, Generalized Gm1, Type I 53
Beta Galactosidase Deficiency Type 1 49
Beta-Galactosidase Deficiency 69
Gm1-Gangliosidosis Infantile 71
Gangliosidosis Gm1 Infantile 51
Norman-Landing Disease 55
Glb Deficiency Type 1 49
Gm1-Gangliosidosis 1 71
Gangliosidosis Gm1 69
Gm1g1 71

Characteristics:

Orphanet epidemiological data:

55
gm1 gangliosidosis type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Miscellaneous:
death in infancy
allelic to mucopolysaccharidosis ivb

Inheritance:
autosomal recessive


HPO:

31
gm1-gangliosidosis, type i:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gm1-Gangliosidosis, Type I

OMIM : 53 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)

MalaCards based summary : Gm1-Gangliosidosis, Type I, also known as beta-galactosidase-1 deficiency, is related to gangliosidosis gm1 and gm1-gangliosidosis, type ii, and has symptoms including joint stiffness, hypertelorism and short neck. An important gene associated with Gm1-Gangliosidosis, Type I is GLB1 (Galactosidase Beta 1). The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 GM1 gangliosidosis is an inheritedlysosomal 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. Last updated: 11/17/2015

Related Diseases for Gm1-Gangliosidosis, Type I

Diseases in the Gangliosidosis Gm2 family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii Gm2-Gangliosidosis, Ab Variant
Gangliosidosis Gm1 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:

# Related Disease Score Top Affiliating Genes
1 gangliosidosis gm1 11.4
2 gm1-gangliosidosis, type ii 11.3
3 gm1-gangliosidosis, type iii 11.1
4 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
5 lysosomal storage disease 10.0
6 hydrops fetalis 10.0
7 angiokeratoma 10.0

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

Symptoms via clinical synopsis from OMIM:

53
Skeletal Limbs:
joint stiffness

Head And Neck Neck:
short neck

Abdomen External Features:
inguinal hernia

Abdomen Liver:
hepatomegaly

Immunology:
vacuolated lymphocytes

Head And Neck Face:
coarse facies
flat nose
full forehead

Head And Neck Mouth:
gingival hyperplasia

Metabolic Features:
no mucopolysacchariduria
beta-galactosidase-1 deficiency

Chest RibsSternum Clavicles And Scapulae:
thick ribs

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

Skeletal Spine:
scoliosis
kyphosis
hypoplastic vertebral bodies
beaked vertebral bodies

Abdomen Spleen:
splenomegaly

Skin Nails Hair Hair:
hypertrichosis

Skin Nails Hair Skin:
angiokeratoma corporis diffusum
dermal melanocytosis

Neurologic Central Nervous System:
mental retardation
cerebral degeneration

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


Clinical features from OMIM:

230500

Human phenotypes related to Gm1-Gangliosidosis, Type I:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 31 HP:0001387
2 hypertelorism 31 HP:0000316
3 short neck 31 HP:0000470
4 frontal bossing 31 HP:0002007
5 intellectual disability 31 HP:0001249
6 scoliosis 31 HP:0002650
7 kyphosis 31 HP:0002808
8 inguinal hernia 31 HP:0000023
9 gingival overgrowth 31 HP:0000212
10 coarse facial features 31 HP:0000280
11 splenomegaly 31 HP:0001744
12 hepatomegaly 31 HP:0002240
13 beaking of vertebral bodies 31 HP:0004568
14 cherry red spot of the macula 31 frequent (33%) HP:0010729
15 hypertrophic cardiomyopathy 31 HP:0001639
16 congestive heart failure 31 HP:0001635
17 depressed nasal ridge 31 HP:0000457
18 severe short stature 31 HP:0003510
19 abnormality of the urinary system 31 HP:0000079
20 dilated cardiomyopathy 31 HP:0001644
21 hypoplastic vertebral bodies 31 HP:0008479
22 hypertrichosis 31 HP:0000998
23 vacuolated lymphocytes 31 HP:0001922
24 angiokeratoma corporis diffusum 31 HP:0001071
25 thickened ribs 31 HP:0000900
26 cerebral degeneration 31 HP:0007313
27 abnormal heart valve morphology 31 HP:0001654
28 decreased beta-galactosidase activity 31 HP:0008166

UMLS symptoms related to Gm1-Gangliosidosis, Type I:


joint stiffness

Drugs & Therapeutics for Gm1-Gangliosidosis, Type I

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2
1-Deoxynojirimycin Experimental Phase 4 19130-96-2 1374
3 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
4 Anti-HIV Agents Phase 4
5 Anti-Retroviral Agents Phase 4
6 Antiviral Agents Phase 4
7 Cardiac Glycosides Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9 Hypoglycemic Agents Phase 4
10
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
12
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
13
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
14 Alkylating Agents Phase 2, Phase 3,Not Applicable
15 Antilymphocyte Serum Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
17 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
18 Methylprednisolone acetate Phase 2, Phase 3
19 Methylprednisolone Hemisuccinate Phase 2, Phase 3
20 Prednisolone acetate Phase 2, Phase 3
21 Prednisolone hemisuccinate Phase 2, Phase 3
22 Prednisolone phosphate Phase 2, Phase 3
23
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
24
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
25
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
26
Hydroxyurea Approved Phase 2 127-07-1 3657
27
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
28
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
29 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
30 Antifungal Agents Phase 2,Not Applicable
31 Antimetabolites Phase 2,Not Applicable
32 Antimetabolites, Antineoplastic Phase 2,Not Applicable
33 Calcineurin Inhibitors Phase 2,Not Applicable
34 Cyclosporins Phase 2,Not Applicable
35 Dermatologic Agents Phase 2,Not Applicable
36 Nucleic Acid Synthesis Inhibitors Phase 2
37
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078
38
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
39 Anti-Bacterial Agents Not Applicable
40 Antibiotics, Antitubercular Not Applicable
41 Antitubercular Agents Not Applicable
42 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
4 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
5 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
6 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
7 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
8 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647
9 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
10 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422

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 28 GLB1

Anatomical Context for Gm1-Gangliosidosis, Type I

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

38
Brain, Spinal Cord, Heart, Bone, Eye, Skin

Publications for Gm1-Gangliosidosis, Type I

Articles related to Gm1-Gangliosidosis, Type I:

(show all 15)
# Title Authors Year
1
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )
2018
2
An autopsy case of infantile GM1 gangliosidosis with adrenal calcification. ( 21800097 )
2011
3
Teaching neuroimages: T2 hypointense thalami in infantile GM1 gangliosidosis. ( 20308674 )
2010
4
MR imaging findings in 2 cases of late infantile GM1 gangliosidosis. ( 19279282 )
2009
5
Neuroimaging findings in infantile GM1 gangliosidosis. ( 17052929 )
2006
6
GM1-gangliosidosis type I. ( 16942584 )
2006
7
The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction. ( 15042387 )
2004
8
Neuroimaging findings in late infantile GM1 gangliosidosis. ( 9802482 )
1998
9
Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis. ( 8950839 )
1996
10
A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis. ( 8500799 )
1993
11
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1- gangliosidosis patient. ( 1487238 )
1992
12
Hyperphosphatasemia in infantile GM1 gangliosidosis: possible association with microscopic bone marrow osteoblastosis. ( 2135166 )
1990
13
A case of GM1-gangliosidosis type I: glycosphingolipid profiles of urine and transformed lymphocytes and beta-D-galactosidase activities in peripheral lymphocytes, cultured skin fibroblasts and transformed lymphocytes. ( 2117086 )
1990
14
Manifestation of infantile GM1 gangliosidosis in the fetal eye. An electron microscopic study. ( 3125087 )
1988
15
Infantile GM1 gangliosidosis: an easy diagnosis. ( 415507 )
1977

Variations for Gm1-Gangliosidosis, Type I

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

71 (show top 50) (show all 51)
# Symbol AA change Variation ID SNP ID
1 GLB1 p.Arg49Cys VAR_003329
2 GLB1 p.Gly123Arg VAR_003331
3 GLB1 p.Arg201Cys VAR_003332
4 GLB1 p.Tyr316Cys VAR_003334
5 GLB1 p.Arg482His VAR_003336
6 GLB1 p.Pro10Leu VAR_008671 rs7637099
7 GLB1 p.Arg59His VAR_008672
8 GLB1 p.Arg121Ser VAR_008675
9 GLB1 p.Arg208Cys VAR_008676
10 GLB1 p.Val240Met VAR_008677
11 GLB1 p.Asp491Asn VAR_008679
12 GLB1 p.Lys578Arg VAR_008682
13 GLB1 p.Tyr591Cys VAR_008684
14 GLB1 p.Tyr591Asn VAR_008685
15 GLB1 p.Arg148Ser VAR_013541
16 GLB1 p.Arg201His VAR_013542
17 GLB1 p.Val216Ala VAR_013544
18 GLB1 p.His281Tyr VAR_013548
19 GLB1 p.Asp332Asn VAR_013549
20 GLB1 p.Gly494Cys VAR_013553
21 GLB1 p.Gly579Asp VAR_013555
22 GLB1 p.Arg59Cys VAR_026129
23 GLB1 p.Arg68Trp VAR_026130
24 GLB1 p.Asp151Tyr VAR_026131
25 GLB1 p.Thr239Met VAR_026132
26 GLB1 p.Gly134Val VAR_037937
27 GLB1 p.Leu162Ser VAR_037940
28 GLB1 p.Asp491Tyr VAR_037943
29 GLB1 p.Pro549Leu VAR_037944
30 GLB1 p.Arg590Cys VAR_037946
31 GLB1 p.Gly272Asp VAR_038346
32 GLB1 p.Met132Thr VAR_062344
33 GLB1 p.Pro136Ser VAR_062345
34 GLB1 p.Asp151Val VAR_062348
35 GLB1 p.Leu173Pro VAR_062349
36 GLB1 p.Gln184Arg VAR_062350
37 GLB1 p.Gly190Asp VAR_062351
38 GLB1 p.Tyr199Cys VAR_062353
39 GLB1 p.Gln255His VAR_062354
40 GLB1 p.Thr329Ile VAR_062357
41 GLB1 p.Asp332Glu VAR_062358
42 GLB1 p.Lys346Asn VAR_062360
43 GLB1 p.Tyr347Cys VAR_062361
44 GLB1 p.Thr420Pro VAR_062364
45 GLB1 p.Leu422Arg VAR_062365
46 GLB1 p.Asp441Asn VAR_062366
47 GLB1 p.Arg442Gln VAR_062367
48 GLB1 p.Pro597Ser VAR_062370
49 GLB1 p.Leu236Pro VAR_074056
50 GLB1 p.Leu337Pro VAR_074061

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

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh37 Chromosome 3, 33087676: 33087676
2 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh37 Chromosome 3, 33063116: 33063117
3 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh37 Chromosome 3, 33059977: 33059977
4 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh37 Chromosome 3, 33058214: 33058224
5 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh37 Chromosome 3, 33114110: 33114110
6 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh37 Chromosome 3, 33038802: 33038802
7 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh37 Chromosome 3, 33109783: 33109783
8 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh37 Chromosome 3, 33109737: 33109737
9 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh37 Chromosome 3, 33109720: 33109720
10 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh37 Chromosome 3, 33138527: 33138527
11 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh37 Chromosome 3, 33138502: 33138502
12 GLB1 NM_000404.3(GLB1): c.1188dupG (p.Pro397Alafs) duplication Pathogenic rs587779403 GRCh37 Chromosome 3, 33063103: 33063103
13 GLB1 NM_000404.2: c.672_673delAT deletion Pathogenic
14 GLB1 NM_000404.3(GLB1): c.922T> C (p.Phe308Leu) single nucleotide variant Pathogenic rs587779404 GRCh37 Chromosome 3, 33093283: 33093283
15 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh38 Chromosome 3, 33051896: 33051896
16 GLB1 NM_000404.3(GLB1): c.1077delA (p.Val360Tyrfs) deletion Pathogenic rs727503952 GRCh37 Chromosome 3, 33065809: 33065809
17 GLB1 NM_000404.3(GLB1): c.1A> C (p.Met1Leu) single nucleotide variant Likely pathogenic rs794726886 GRCh37 Chromosome 3, 33138577: 33138577
18 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh37 Chromosome 3, 33038803: 33038803
19 GLB1 NM_000404.3(GLB1): c.169delT (p.Tyr57Thrfs) deletion Pathogenic rs794727249 GRCh37 Chromosome 3, 33114112: 33114112
20 GLB1 NM_000404.3(GLB1): c.203G> A (p.Arg68Gln) single nucleotide variant Pathogenic rs572237881 GRCh37 Chromosome 3, 33114078: 33114078
21 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh37 Chromosome 3, 33099712: 33099712
22 GLB1 NM_000404.3(GLB1): c.809A> G (p.Tyr270Cys) single nucleotide variant Likely pathogenic rs371546950 GRCh37 Chromosome 3, 33093480: 33093480
23 GLB1 NM_000404.3(GLB1): c.1572dupG (p.Trp527Leufs) duplication Pathogenic rs794729217 GRCh38 Chromosome 3, 33014218: 33014218
24 GLB1 NM_000404.3(GLB1): c.1369C> T (p.Arg457Ter) single nucleotide variant Pathogenic rs72555359 GRCh37 Chromosome 3, 33058311: 33058311
25 GLB1 NM_000404.2(GLB1): c.1069_1233dup duplication Pathogenic GRCh38 Chromosome 3, 33018562: 33046119
26 GLB1 NM_000404.3(GLB1): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28934274 GRCh37 Chromosome 3, 33110341: 33110341
27 GLB1 NM_000404.3(GLB1): c.947A> G (p.Tyr316Cys) single nucleotide variant Pathogenic rs72555361 GRCh37 Chromosome 3, 33093258: 33093258
28 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
29 GLB1 NM_000404.3(GLB1): c.256_278dup23 (p.Gln95Thrfs) duplication Pathogenic rs587776524 GRCh37 Chromosome 3, 33110430: 33110452
30 GLB1 NM_000404.3(GLB1): c.75+2dupT duplication Pathogenic rs587776525 GRCh37 Chromosome 3, 33138501: 33138501
31 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
32 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh37 Chromosome 3, 33114105: 33114105
33 GLB1 NM_000404.3(GLB1): c.808T> G (p.Tyr270Asp) single nucleotide variant Pathogenic rs376663785 GRCh37 Chromosome 3, 33093481: 33093481
34 GLB1 NM_000404.3(GLB1): c.245+1G> A single nucleotide variant Likely pathogenic rs778423653 GRCh37 Chromosome 3, 33114035: 33114035

Expression for Gm1-Gangliosidosis, Type I

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

Pathways for Gm1-Gangliosidosis, Type I

GO Terms for Gm1-Gangliosidosis, Type I

Sources for Gm1-Gangliosidosis, Type I

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