MCID: GM1004
MIFTS: 42

Gm1-Gangliosidosis, Type I

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

Aliases & Classifications for Gm1-Gangliosidosis, Type I

MalaCards integrated aliases for Gm1-Gangliosidosis, Type I:

Name: Gm1-Gangliosidosis, Type I 57 13
Beta-Galactosidase-1 Deficiency 57 53 75
Infantile Gm1 Gangliosidosis 59 29 6
Gangliosidosis, Generalized Gm1, Type 1 57 73
Gangliosidosis Generalized Gm1 Type 1 53 75
Gm1 Gangliosidosis Type 1 53 59
Glb1 Deficiency 57 75
Gangliosidosis, Generalized Gm1, Infantile Form 57
Gangliosidosis Generalized Gm1 Infantile Form 53
Gangliosidosis Generalized Gm1 Infantile Type 75
Gangliosidosis, Generalized Gm1, Type I 57
Beta Galactosidase Deficiency Type 1 53
Gangliosidosis, Gm1, Infantile 40
Beta-Galactosidase Deficiency 73
Gm1-Gangliosidosis Infantile 75
Gangliosidosis Gm1 Infantile 55
Norman-Landing Disease 59
Glb Deficiency Type 1 53
Gm1-Gangliosidosis 1 75
Gangliosidosis Gm1 73
Gm1g1 75

Characteristics:

Orphanet epidemiological data:

59
gm1 gangliosidosis type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
death in infancy
allelic to mucopolysaccharidosis ivb

Inheritance:
autosomal recessive


HPO:

32
gm1-gangliosidosis, type i:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gm1-Gangliosidosis, Type I

OMIM : 57 GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (230600), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (230650), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001). See also Morquio B disease (253010), an allelic disorder with skeletal anomalies and no neurologic involvement. The GM2-gangliosidoses include Tay-Sachs disease (272800) and Sandhoff disease (268800). (230500)

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 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 spinal cord, brain and heart, and related phenotypes are inguinal hernia and abnormality of the urinary system

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 GM1-gangliosidosis 1: An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life.

Related Diseases for Gm1-Gangliosidosis, Type I

Diseases in the Gangliosidosis 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 type i 10.0

Symptoms & Phenotypes for Gm1-Gangliosidosis, Type I

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
clear cornea
cherry-red spot in half the patients

Skeletal Spine:
scoliosis
kyphosis
hypoplastic vertebral bodies
beaked vertebral bodies

AbdomenSpleen:
splenomegaly

Skeletal Limbs:
joint stiffness

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 Ribs Sternum Clavicles And Scapulae:
thick ribs

Head And Neck Neck:
short neck

Abdomen External Features:
inguinal hernia

Abdomen Liver:
hepatomegaly

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:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 abnormality of the urinary system 32 HP:0000079
3 gingival overgrowth 32 HP:0000212
4 coarse facial features 32 HP:0000280
5 hypertelorism 32 HP:0000316
6 depressed nasal ridge 32 HP:0000457
7 short neck 32 HP:0000470
8 thickened ribs 32 HP:0000900
9 hypertrichosis 32 HP:0000998
10 angiokeratoma corporis diffusum 32 HP:0001071
11 intellectual disability 32 HP:0001249
12 joint stiffness 32 HP:0001387
13 congestive heart failure 32 HP:0001635
14 hypertrophic cardiomyopathy 32 HP:0001639
15 dilated cardiomyopathy 32 HP:0001644
16 abnormal heart valve morphology 32 HP:0001654
17 splenomegaly 32 HP:0001744
18 vacuolated lymphocytes 32 HP:0001922
19 frontal bossing 32 HP:0002007
20 hepatomegaly 32 HP:0002240
21 scoliosis 32 HP:0002650
22 kyphosis 32 HP:0002808
23 severe short stature 32 HP:0003510
24 beaking of vertebral bodies 32 HP:0004568
25 cerebral degeneration 32 HP:0007313
26 decreased beta-galactosidase activity 32 HP:0008166
27 hypoplastic vertebral bodies 32 HP:0008479
28 cherry red spot of the macula 32 frequent (33%) HP:0010729

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 43)
# 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 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
17 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
18 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
19 Methylprednisolone acetate Phase 2, Phase 3
20 Methylprednisolone Hemisuccinate Phase 2, Phase 3
21 Prednisolone acetate Phase 2, Phase 3
22 Prednisolone hemisuccinate Phase 2, Phase 3
23 Prednisolone phosphate Phase 2, Phase 3
24
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
25
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
26
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
27
Hydroxyurea Approved Phase 2 127-07-1 3657
28
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
29
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
30 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
31 Antifungal Agents Phase 2,Not Applicable
32 Antimetabolites Phase 2,Not Applicable
33 Antimetabolites, Antineoplastic Phase 2,Not Applicable
34 Calcineurin Inhibitors Phase 2,Not Applicable
35 Cyclosporins Phase 2,Not Applicable
36 Dermatologic Agents Phase 2,Not Applicable
37 Nucleic Acid Synthesis Inhibitors Phase 2
38
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078
39
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
40 Anti-Bacterial Agents Not Applicable
41 Antibiotics, Antitubercular Not Applicable
42 Antitubercular Agents Not Applicable
43 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 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
9 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
10 Biomarker for GM1/GM2 - Gangliosidoses Active, not recruiting NCT02298647

Search NIH Clinical Center for Gm1-Gangliosidosis, Type I

Genetic Tests for Gm1-Gangliosidosis, Type I

Genetic tests related to Gm1-Gangliosidosis, Type I:

# Genetic test Affiliating Genes
1 Infantile Gm1 Gangliosidosis 29 GLB1

Anatomical Context for Gm1-Gangliosidosis, Type I

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

41
Spinal Cord, Brain, Heart, Bone, Eye, Skin, Bone Marrow

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
GM1-gangliosidosis type I. ( 16942584 )
2006
6
Neuroimaging findings in infantile GM1 gangliosidosis. ( 17052929 )
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
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
13
Hyperphosphatasemia in infantile GM1 gangliosidosis: possible association with microscopic bone marrow osteoblastosis. ( 2135166 )
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:

75 (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 top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.1369C> T (p.Arg457Ter) single nucleotide variant Pathogenic rs72555359 GRCh37 Chromosome 3, 33058311: 33058311
2 GLB1 NM_000404.3(GLB1): c.1369C> T (p.Arg457Ter) single nucleotide variant Pathogenic rs72555359 GRCh38 Chromosome 3, 33016819: 33016819
3 GLB1 NM_000404.2(GLB1): c.1069_1233dup duplication Pathogenic GRCh38 Chromosome 3, 33018562: 33046119
4 GLB1 NM_000404.3(GLB1): c.367G> A (p.Gly123Arg) single nucleotide variant Likely pathogenic rs28934274 GRCh37 Chromosome 3, 33110341: 33110341
5 GLB1 NM_000404.3(GLB1): c.367G> A (p.Gly123Arg) single nucleotide variant Likely pathogenic rs28934274 GRCh38 Chromosome 3, 33068849: 33068849
6 GLB1 NM_000404.3(GLB1): c.947A> G (p.Tyr316Cys) single nucleotide variant Pathogenic rs72555361 GRCh37 Chromosome 3, 33093258: 33093258
7 GLB1 NM_000404.3(GLB1): c.947A> G (p.Tyr316Cys) single nucleotide variant Pathogenic rs72555361 GRCh38 Chromosome 3, 33051766: 33051766
8 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
9 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh38 Chromosome 3, 33016743: 33016743
10 GLB1 NM_000404.3(GLB1): c.256_278dup23 (p.Gln95Thrfs) duplication Pathogenic rs587776524 GRCh37 Chromosome 3, 33110430: 33110452
11 GLB1 NM_000404.3(GLB1): c.256_278dup23 (p.Gln95Thrfs) duplication Pathogenic rs587776524 GRCh38 Chromosome 3, 33068938: 33068960
12 GLB1 NM_000404.3(GLB1): c.245C> T (p.Thr82Met) single nucleotide variant Pathogenic rs72555393 GRCh37 Chromosome 3, 33114036: 33114036
13 GLB1 NM_000404.3(GLB1): c.245C> T (p.Thr82Met) single nucleotide variant Pathogenic rs72555393 GRCh38 Chromosome 3, 33072544: 33072544
14 GLB1 NM_000404.3(GLB1): c.75+2dupT duplication Pathogenic rs587776525 GRCh37 Chromosome 3, 33138501: 33138501
15 GLB1 NM_000404.3(GLB1): c.75+2dupT duplication Pathogenic rs587776525 GRCh38 Chromosome 3, 33097009: 33097009
16 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
17 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh38 Chromosome 3, 33058200: 33058200
18 GLB1 NM_000404.3(GLB1): c.1051C> T (p.Arg351Ter) single nucleotide variant Likely pathogenic rs72555372 GRCh37 Chromosome 3, 33087629: 33087629
19 GLB1 NM_000404.3(GLB1): c.1051C> T (p.Arg351Ter) single nucleotide variant Likely pathogenic rs72555372 GRCh38 Chromosome 3, 33046137: 33046137
20 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh37 Chromosome 3, 33114105: 33114105
21 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh38 Chromosome 3, 33072613: 33072613
22 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh37 Chromosome 3, 33087676: 33087676
23 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh38 Chromosome 3, 33046184: 33046184
24 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh37 Chromosome 3, 33063116: 33063117
25 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh38 Chromosome 3, 33021624: 33021625
26 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh37 Chromosome 3, 33059977: 33059977
27 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh38 Chromosome 3, 33018485: 33018485
28 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh37 Chromosome 3, 33058214: 33058224
29 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh38 Chromosome 3, 33016722: 33016732
30 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh37 Chromosome 3, 33114110: 33114110
31 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh38 Chromosome 3, 33072618: 33072618
32 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh37 Chromosome 3, 33038802: 33038802
33 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh38 Chromosome 3, 32997310: 32997310
34 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh37 Chromosome 3, 33109783: 33109783
35 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh38 Chromosome 3, 33068291: 33068291
36 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh37 Chromosome 3, 33109737: 33109737
37 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh38 Chromosome 3, 33068245: 33068245
38 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh37 Chromosome 3, 33109720: 33109720
39 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh38 Chromosome 3, 33068228: 33068228
40 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh37 Chromosome 3, 33138527: 33138527
41 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh38 Chromosome 3, 33097035: 33097035
42 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh37 Chromosome 3, 33138502: 33138502
43 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh38 Chromosome 3, 33097010: 33097010
44 GLB1 NM_000404.3(GLB1): c.1188dupG (p.Pro397Alafs) duplication Pathogenic rs587779403 GRCh37 Chromosome 3, 33063103: 33063103
45 GLB1 NM_000404.3(GLB1): c.1188dupG (p.Pro397Alafs) duplication Pathogenic rs587779403 GRCh38 Chromosome 3, 33021611: 33021611
46 GLB1 NM_000404.2: c.672_673delAT deletion Pathogenic
47 GLB1 NM_000404.3(GLB1): c.922T> C (p.Phe308Leu) single nucleotide variant Pathogenic rs587779404 GRCh37 Chromosome 3, 33093283: 33093283
48 GLB1 NM_000404.3(GLB1): c.922T> C (p.Phe308Leu) single nucleotide variant Pathogenic rs587779404 GRCh38 Chromosome 3, 33051791: 33051791
49 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh37 Chromosome 3, 33093388: 33093388
50 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh38 Chromosome 3, 33051896: 33051896

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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