GM1G1
MCID: GM1004
MIFTS: 42

Gm1-Gangliosidosis, Type I (GM1G1)

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

Aliases & Classifications for Gm1-Gangliosidosis, Type I

MalaCards integrated aliases for Gm1-Gangliosidosis, Type I:

Name: Gm1-Gangliosidosis, Type I 57 13
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 generalized gangliosidoses 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 brain, spinal cord and heart, and related phenotypes are hypertelorism and short neck

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 generalized gangliosidoses 11.6
2 gm1-gangliosidosis, type ii 11.4
3 gm1-gangliosidosis, type iii 11.2
4 gangliosidosis gm1 10.2
5 hydrops fetalis, nonimmune, and/or atrial septal defect 10.2
6 lysosomal storage disease 10.2
7 fetal edema 10.2
8 hydrops fetalis 10.2
9 angiokeratoma 10.2

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:

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

Abdomen Spleen:
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 hypertelorism 32 HP:0000316
2 short neck 32 HP:0000470
3 frontal bossing 32 HP:0002007
4 intellectual disability 32 HP:0001249
5 scoliosis 32 HP:0002650
6 kyphosis 32 HP:0002808
7 inguinal hernia 32 HP:0000023
8 gingival overgrowth 32 HP:0000212
9 coarse facial features 32 HP:0000280
10 splenomegaly 32 HP:0001744
11 hepatomegaly 32 HP:0002240
12 joint stiffness 32 HP:0001387
13 beaking of vertebral bodies 32 HP:0004568
14 cherry red spot of the macula 32 frequent (33%) HP:0010729
15 hypertrophic cardiomyopathy 32 HP:0001639
16 congestive heart failure 32 HP:0001635
17 dilated cardiomyopathy 32 HP:0001644
18 depressed nasal ridge 32 HP:0000457
19 severe short stature 32 HP:0003510
20 abnormality of the urinary system 32 HP:0000079
21 hypoplastic vertebral bodies 32 HP:0008479
22 hypertrichosis 32 HP:0000998
23 vacuolated lymphocytes 32 HP:0001922
24 angiokeratoma corporis diffusum 32 HP:0001071
25 thickened ribs 32 HP:0000900
26 cerebral degeneration 32 HP:0007313
27 abnormal heart valve morphology 32 HP:0001654
28 decreased beta-galactosidase activity 32 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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2
1-Deoxynojirimycin Experimental, Investigational Phase 4 19130-96-2 1374
3 Glycoside Hydrolase Inhibitors Phase 4
4 Antiviral Agents Phase 4
5 Hypoglycemic Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Anti-HIV Agents Phase 4
8 Anti-Retroviral Agents Phase 4
9 Cardiac Glycosides Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat

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

Publications for Gm1-Gangliosidosis, Type I

Articles related to Gm1-Gangliosidosis, Type I:

(show all 32)
# Title Authors Year
1
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )
2018
2
Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis. ( 29720806 )
2018
3
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. ( 30555092 )
2018
4
An autopsy case of infantile GM1 gangliosidosis with adrenal calcification. ( 21800097 )
2011
5
Teaching neuroimages: T2 hypointense thalami in infantile GM1 gangliosidosis. ( 20308674 )
2010
6
MR imaging findings in 2 cases of late infantile GM1 gangliosidosis. ( 19279282 )
2009
7
GM1-gangliosidosis type I. ( 16942584 )
2006
8
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population. ( 16466959 )
2006
9
Neuroimaging findings in infantile GM1 gangliosidosis. ( 17052929 )
2006
10
The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction. ( 15042387 )
2004
11
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. ( 10841810 )
2000
12
Neuroimaging findings in late infantile GM1 gangliosidosis. ( 9802482 )
1998
13
Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis. ( 8950839 )
1996
14
Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis. ( 8199591 )
1994
15
Thalamic hyperdensity on CT in infantile GM1-gangliosidosis. ( 7694998 )
1994
16
A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis. ( 8500799 )
1993
17
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1- gangliosidosis patient. ( 1487238 )
1992
18
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
19
Hyperphosphatasemia in infantile GM1 gangliosidosis: possible association with microscopic bone marrow osteoblastosis. ( 2135166 )
1990
20
A case of GM1 gangliosidosis type I. ( 2500629 )
1989
21
GM1 gangliosidosis type I. ( 2513275 )
1989
22
Manifestation of infantile GM1 gangliosidosis in the fetal eye. An electron microscopic study. ( 3125087 )
1988
23
Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I. ( 3123871 )
1987
24
Anomalous eosinophil granulocytes in blood and bone marrow: a diagnostic marker for infantile GM1-gangliosidosis? ( 3926503 )
1985
25
Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots. ( 6783061 )
1981
26
GM1 gangliosidosis type I (Norman-Landing disease) (report of a case with enzymatic analysis of the family). ( 6789518 )
1980
27
Infantile GM1-gangliosidosis with marked manifestation of lungs. ( 121907 )
1979
28
Infantile GM1 gangliosidosis: an easy diagnosis. ( 415507 )
1977
29
Ultrastructural study of a muscle biopsy in a case of GM1 gangliosidosis type I. ( 132626 )
1976
30
GM1 gangliosidosis type I. ( 4759862 )
1973
31
Infantile GM1 gangliosidosis. Histochemical, ultrastructural and biochemical studies. ( 4257921 )
1971
32
Isolation and characterization of keratan sulfates from the liver of a patient with GM1-gangliosidosis type I. ( 4319219 )
1970

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 228)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.145C> T (p.Arg49Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555358 GRCh37 Chromosome 3, 33114136: 33114136
2 GLB1 NM_000404.3(GLB1): c.145C> T (p.Arg49Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555358 GRCh38 Chromosome 3, 33072644: 33072644
3 GLB1 NM_000404.3(GLB1): c.1369C> T (p.Arg457Ter) single nucleotide variant Pathogenic rs72555359 GRCh37 Chromosome 3, 33058311: 33058311
4 GLB1 NM_000404.3(GLB1): c.1369C> T (p.Arg457Ter) single nucleotide variant Pathogenic rs72555359 GRCh38 Chromosome 3, 33016819: 33016819
5 GLB1 NM_000404.3(GLB1): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555360 GRCh37 Chromosome 3, 33099713: 33099713
6 GLB1 NM_000404.3(GLB1): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555360 GRCh38 Chromosome 3, 33058221: 33058221
7 GLB1 NM_000404.3(GLB1): c.152T> C (p.Ile51Thr) single nucleotide variant Pathogenic rs72555390 GRCh37 Chromosome 3, 33114129: 33114129
8 GLB1 NM_000404.3(GLB1): c.152T> C (p.Ile51Thr) single nucleotide variant Pathogenic rs72555390 GRCh38 Chromosome 3, 33072637: 33072637
9 GLB1 NM_000404.2(GLB1): c.1069_1233dup duplication Pathogenic GRCh38 Chromosome 3, 33018562: 33046119
10 GLB1 NM_000404.3(GLB1): c.367G> A (p.Gly123Arg) single nucleotide variant Likely pathogenic rs28934274 GRCh37 Chromosome 3, 33110341: 33110341
11 GLB1 NM_000404.3(GLB1): c.367G> A (p.Gly123Arg) single nucleotide variant Likely pathogenic rs28934274 GRCh38 Chromosome 3, 33068849: 33068849
12 GLB1 NM_000404.3(GLB1): c.947A> G (p.Tyr316Cys) single nucleotide variant Likely pathogenic rs72555361 GRCh37 Chromosome 3, 33093258: 33093258
13 GLB1 NM_000404.3(GLB1): c.947A> G (p.Tyr316Cys) single nucleotide variant Likely pathogenic rs72555361 GRCh38 Chromosome 3, 33051766: 33051766
14 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
15 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh38 Chromosome 3, 33016743: 33016743
16 GLB1 NM_000404.3(GLB1): c.256_278dup23 (p.Gln95Thrfs) duplication Pathogenic rs587776524 GRCh37 Chromosome 3, 33110430: 33110452
17 GLB1 NM_000404.3(GLB1): c.256_278dup23 (p.Gln95Thrfs) duplication Pathogenic rs587776524 GRCh38 Chromosome 3, 33068938: 33068960
18 GLB1 NM_000404.3(GLB1): c.245C> T (p.Thr82Met) single nucleotide variant Pathogenic/Likely pathogenic rs72555393 GRCh37 Chromosome 3, 33114036: 33114036
19 GLB1 NM_000404.3(GLB1): c.245C> T (p.Thr82Met) single nucleotide variant Pathogenic/Likely pathogenic rs72555393 GRCh38 Chromosome 3, 33072544: 33072544
20 GLB1 NM_000404.3(GLB1): c.75+2dupT duplication Pathogenic rs587776525 GRCh37 Chromosome 3, 33138501: 33138501
21 GLB1 NM_000404.3(GLB1): c.75+2dupT duplication Pathogenic rs587776525 GRCh38 Chromosome 3, 33097009: 33097009
22 GLB1 NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys) single nucleotide variant Uncertain significance rs72555365 GRCh37 Chromosome 3, 33058236: 33058236
23 GLB1 NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys) single nucleotide variant Uncertain significance rs72555365 GRCh38 Chromosome 3, 33016744: 33016744
24 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
25 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh38 Chromosome 3, 33058200: 33058200
26 GLB1 NM_000404.3(GLB1): c.1051C> T (p.Arg351Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72555372 GRCh37 Chromosome 3, 33087629: 33087629
27 GLB1 NM_000404.3(GLB1): c.1051C> T (p.Arg351Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72555372 GRCh38 Chromosome 3, 33046137: 33046137
28 GLB1 NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala) single nucleotide variant Likely pathogenic rs72555368 GRCh37 Chromosome 3, 33055784: 33055784
29 GLB1 NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala) single nucleotide variant Likely pathogenic rs72555368 GRCh38 Chromosome 3, 33014292: 33014292
30 GLB1 NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro) single nucleotide variant Uncertain significance rs72555369 GRCh37 Chromosome 3, 33063068: 33063068
31 GLB1 NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro) single nucleotide variant Uncertain significance rs72555369 GRCh38 Chromosome 3, 33021576: 33021576
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.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh38 Chromosome 3, 33072613: 33072613
34 GLB1 NM_000404.3(GLB1): c.1772A> G (p.Tyr591Cys) single nucleotide variant Uncertain significance rs72555371 GRCh37 Chromosome 3, 33038799: 33038799
35 GLB1 NM_000404.3(GLB1): c.1772A> G (p.Tyr591Cys) single nucleotide variant Uncertain significance rs72555371 GRCh38 Chromosome 3, 32997307: 32997307
36 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh37 Chromosome 3, 33087676: 33087676
37 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh38 Chromosome 3, 33046184: 33046184
38 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic/Likely pathogenic rs398123348 GRCh37 Chromosome 3, 33063116: 33063117
39 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic/Likely pathogenic rs398123348 GRCh38 Chromosome 3, 33021624: 33021625
40 GLB1 NM_001135602.2(GLB1): c.913C> T (p.Leu305Phe) single nucleotide variant Benign/Likely benign rs34421970 GRCh37 Chromosome 3, 33059981: 33059981
41 GLB1 NM_001135602.2(GLB1): c.913C> T (p.Leu305Phe) single nucleotide variant Benign/Likely benign rs34421970 GRCh38 Chromosome 3, 33018489: 33018489
42 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202237232 GRCh37 Chromosome 3, 33059977: 33059977
43 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202237232 GRCh38 Chromosome 3, 33018485: 33018485
44 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic/Likely pathogenic rs398123349 GRCh37 Chromosome 3, 33058214: 33058224
45 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic/Likely pathogenic rs398123349 GRCh38 Chromosome 3, 33016722: 33016732
46 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123350 GRCh37 Chromosome 3, 33114110: 33114110
47 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123350 GRCh38 Chromosome 3, 33072618: 33072618
48 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Conflicting interpretations of pathogenicity rs398123351 GRCh37 Chromosome 3, 33038802: 33038802
49 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Conflicting interpretations of pathogenicity rs398123351 GRCh38 Chromosome 3, 32997310: 32997310
50 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123353 GRCh37 Chromosome 3, 33109783: 33109783

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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