GM1G2
MCID: GM1005
MIFTS: 50

Gm1-Gangliosidosis, Type Ii (GM1G2)

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

Aliases & Classifications for Gm1-Gangliosidosis, Type Ii

MalaCards integrated aliases for Gm1-Gangliosidosis, Type Ii:

Name: Gm1-Gangliosidosis, Type Ii 57 13
Gm1 Gangliosidosis Type 2 12 20 58 29 6 15
Gangliosidosis, Generalized Gm1, Type 2 57 70
Gangliosidosis Generalized Gm1 Type 2 20 72
Juvenile Gm1 Gangliosidosis 12 58
Gangliosidosis, Generalized Gm1, Late-Infantile Type 29
Gangliosidosis Generalized Gm1 Late Infantile Type 72
Gangliosidosis, Generalized Gm1, Juvenile Type 57
Gangliosidosis Generalized Gm1 Juvenile Type 20
Gm1-Gangliosidosis Generalized Juvenile Type 72
Gangliosidosis, Generalized Gm1, Type Ii 57
Late-Infantile Gm1 Gangliosidosis 58
Gangliosidosis, Gm1, Type Ii 39
Gm1-Gangliosidosis 2 72
Gm1g2 72

Characteristics:

Orphanet epidemiological data:

58
gm1 gangliosidosis type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of disease 7 months to 3 years
survival to 10 years


HPO:

31
gm1-gangliosidosis, type ii:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0080501
OMIM® 57 230600
MeSH 44 D016537
ICD10 via Orphanet 33 E75.1
UMLS via Orphanet 71 C0268272
Orphanet 58 ORPHA79256
UMLS 70 C0268272

Summaries for Gm1-Gangliosidosis, Type Ii

OMIM® : 57 GM1-gangliosidosis type II is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the 'late-infantile' form, whereas those with slightly later onset and survival into late childhood are referred to as having the 'juvenile' form (Caciotti et al., 2003). However, there is no strict age marker to distinguish between these 2 type II forms. GLB1 enzyme activity in type II ranges from approximately 1 to 4% of control values (Nishimoto et al., 1991; Yoshida et al., 1991). (230600) (Updated 05-Apr-2021)

MalaCards based summary : Gm1-Gangliosidosis, Type Ii, also known as gm1 gangliosidosis type 2, is related to gm1 gangliosidosis and glycoproteinosis, and has symptoms including myoclonic seizures An important gene associated with Gm1-Gangliosidosis, Type Ii is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Chondroitin sulfate/dermatan sulfate metabolism and Sphingolipid metabolism. Affiliated tissues include eye, spinal cord and liver, and related phenotypes are ataxia and gait disturbance

Disease Ontology : 12 A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.

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.

UniProtKB/Swiss-Prot : 72 GM1-gangliosidosis 2: A gangliosidosis characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive.

Related Diseases for Gm1-Gangliosidosis, Type Ii

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, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 gm1 gangliosidosis 31.9 TMPPE GM2A GLB1 CTSA
2 glycoproteinosis 30.3 GLB1 CTSA
3 galactosialidosis 30.3 GLB1 CTSA
4 gangliosidosis 30.0 TMPPE HEXB GM2A GLB1 CTSA
5 gm2 gangliosidosis 30.0 HEXB GM2A GLB1
6 mucopolysaccharidosis, type ivb 29.7 TMPPE IDS GLB1 CTSA
7 mucopolysaccharidosis iv 29.7 TMPPE IDS GLB1 CTSA
8 gm1-gangliosidosis, type i 29.6 TMPPE GLB1 CSNK1G1 CCDC33
9 gm1-gangliosidosis, type iii 29.6 TMPPE PLBD2 HEXB GLB1
10 lysosomal storage disease 29.4 IDS HEXB GM2A GLB1 CTSA
11 mucopolysaccharidosis-plus syndrome 29.4 IDS HEXB GM2A GLB1 CTSA
12 generalized gangliosidoses 11.4
13 cerebral atrophy 10.2
14 rare neurodegenerative disease 10.2
15 myoclonic epilepsy of unverricht and lundborg 10.1
16 neuraminidase deficiency 10.1
17 neuronal ceroid lipofuscinosis 10.1
18 epilepsy 10.1
19 early myoclonic encephalopathy 10.1
20 lactic acidosis 10.1
21 retinal degeneration 10.1
22 hyperacusis 10.1
23 beta-thalassemia 10.1
24 pontocerebellar hypoplasia, type 1c 10.1
25 pontocerebellar hypoplasia 10.1
26 gaucher's disease 10.1
27 glb1-related disorders 10.1
28 thalassemia 10.1
29 mucopolysaccharidosis, type vi 10.0 IDS GLB1
30 morquio syndrome 9.9 TMPPE GLB1 CTSA
31 mucopolysaccharidosis, type ii 9.9 IDS GLB1
32 krabbe disease 9.9 IDS GLB1
33 gm2-gangliosidosis, ab variant 9.9 HEXB GM2A GLB1
34 gallbladder papillomatosis 9.9 PLBD2 HEXB
35 sandhoff disease 9.9 HEXB GM2A GLB1
36 mucopolysaccharidosis iii 9.9 IDS GLB1
37 hurler syndrome 9.8 IDS GLB1 CTSA
38 mucopolysaccharidosis, type iva 9.8 IDS GLB1 CTSA
39 scheie syndrome 9.8 IDS GLB1 CTSA
40 mucolipidosis 9.8 GLB1 CTSA
41 aortic valve prolapse 9.8 CSNK1G1 CCDC33
42 sphingolipidosis 9.7 HEXB GM2A GLB1 CTSA
43 tay-sachs disease 9.6 IDS HEXB GM2A GLB1

Graphical network of the top 20 diseases related to Gm1-Gangliosidosis, Type Ii:



Diseases related to Gm1-Gangliosidosis, Type Ii

Symptoms & Phenotypes for Gm1-Gangliosidosis, Type Ii

Human phenotypes related to Gm1-Gangliosidosis, Type Ii:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 gait disturbance 31 HP:0001288
3 optic atrophy 31 HP:0000648
4 spastic tetraplegia 31 HP:0002510
5 developmental stagnation 31 HP:0007281
6 progressive psychomotor deterioration 31 HP:0007272
7 abnormality of the face 31 HP:0000271
8 platyspondyly 31 HP:0000926
9 ventriculomegaly 31 HP:0002119
10 coxa valga 31 HP:0002673
11 abnormality of the spleen 31 HP:0001743
12 abnormality of the liver 31 HP:0001392
13 cerebral atrophy 31 HP:0002059
14 decreased beta-galactosidase activity 31 HP:0008166
15 sea-blue histiocytosis 31 HP:0001982
16 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
optic atrophy

Skeletal Pelvis:
coxa valga
mild flaring of iliac wings

Head And Neck Face:
normal facies

Abdomen Spleen:
no splenomegaly

Laboratory Abnormalities:
decreased beta-galactosidase activity (leukocyte, fibroblast, plasma)

Neurologic Central Nervous System:
progressive psychomotor deterioration
ventriculomegaly
cerebral atrophy
myoclonic seizures
spastic quadriplegia
more
Skeletal Spine:
mild platyspondyly

Abdomen Liver:
no hepatomegaly

Hematology:
sea-blue histiocyte (bone marrow)

Clinical features from OMIM®:

230600 (Updated 05-Apr-2021)

UMLS symptoms related to Gm1-Gangliosidosis, Type Ii:


myoclonic seizures

Drugs & Therapeutics for Gm1-Gangliosidosis, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients Recruiting NCT04041102
2 Natural History Study Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1) Recruiting NCT04310163

Search NIH Clinical Center for Gm1-Gangliosidosis, Type Ii

Genetic Tests for Gm1-Gangliosidosis, Type Ii

Genetic tests related to Gm1-Gangliosidosis, Type Ii:

# Genetic test Affiliating Genes
1 Gm1 Gangliosidosis Type 2 29 GLB1
2 Gangliosidosis, Generalized Gm1, Late-Infantile Type 29

Anatomical Context for Gm1-Gangliosidosis, Type Ii

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

40
Eye, Spinal Cord, Liver, Bone Marrow, Bone, Spleen, Globus Pallidus

Publications for Gm1-Gangliosidosis, Type Ii

Articles related to Gm1-Gangliosidosis, Type Ii:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 57 6
12644936 2003
2
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. 57 6
1909089 1991
3
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. 6 57
1907800 1991
4
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. 6
27750150 2017
5
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 6
27679996 2016
6
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 6
26646981 2016
7
Recurrent and novel GLB1 mutations in India. 6
25936995 2015
8
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 6
25557439 2015
9
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 6
25443580 2015
10
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 6
25600812 2015
11
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 6
26108645 2015
12
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
13
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
14
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. 6
24777551 2014
15
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 6
24767253 2014
16
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. 6
23831247 2013
17
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 6
23337983 2013
18
Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. 6
23151865 2012
19
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. 6
21214877 2012
20
Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 6
22128166 2012
21
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 6
21520340 2011
22
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 6
21497194 2011
23
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 6
20175788 2010
24
Structural bases of GM1 gangliosidosis and Morquio B disease. 6
19644515 2009
25
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 6
19472408 2009
26
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 6
17664528 2007
27
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 6
17309651 2007
28
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 6
17221873 2007
29
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. 6
16941474 2006
30
Fibroblast screening for chaperone therapy in beta-galactosidosis. 6
16617000 2006
31
Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. 6
16674934 2006
32
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 6
16626397 2006
33
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. 6
16314480 2005
34
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 6
15714521 2005
35
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 6
15365997 2004
36
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B. 6
11511921 2001
37
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. 6
10841810 2000
38
Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. 6
10839995 2000
39
Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme. 6
10744681 2000
40
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. 6
10338095 1999
41
Normal serum beta-galactosidase in juvenile GM1 gangliosidosis. 6
8068159 1994
42
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. 6
8198123 1994
43
Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis). 6
8112731 1994
44
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. 6
8213816 1993
45
GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients. 6
1353343 1992
46
Feline GM1 gangliosidosis: characterization of the residual liver acid beta-galactosidase. 57
83795 1978
47
Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis? 57
4278184 1974
48
GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant. 57
4420522 1974
49
Juvenile GM1 gangliosidosis. Occurrence with absence of two beta-galactosidase components. 57
4368854 1974
50
Clinical and enzymatic variations in G M1 generalized gangliosidosis. 57
5031983 1972

Variations for Gm1-Gangliosidosis, Type Ii

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

6 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLB1 NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) SNV Pathogenic 944 rs72555370 GRCh37: 3:33114079-33114079
GRCh38: 3:33072587-33072587
2 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
3 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
4 GLB1 NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) SNV Pathogenic 926 rs72555390 GRCh37: 3:33114129-33114129
GRCh38: 3:33072637-33072637
5 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 GRCh37: 3:33093443-33093443
GRCh38: 3:33051951-33051951
6 GLB1 NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) SNV Pathogenic 553205 rs778700089 GRCh37: 3:33109733-33109733
GRCh38: 3:33068241-33068241
7 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 GRCh37: 3:33093443-33093443
GRCh38: 3:33051951-33051951
8 GLB1 NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) SNV Pathogenic 496895 rs756878418 GRCh37: 3:33114106-33114106
GRCh38: 3:33072614-33072614
9 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 GRCh37: 3:33099713-33099713
GRCh38: 3:33058221-33058221
10 GLB1 NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) SNV Pathogenic 941 rs72555372 GRCh37: 3:33087629-33087629
GRCh38: 3:33046137-33046137
11 GLB1 NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) SNV Pathogenic 265179 rs376710410 GRCh37: 3:33107043-33107043
GRCh38: 3:33065551-33065551
12 GLB1 NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) SNV Pathogenic 264673 rs748830051 GRCh37: 3:33110432-33110432
GRCh38: 3:33068940-33068940
13 GLB1 NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) SNV Pathogenic 940 rs72555367 GRCh37: 3:33059974-33059974
GRCh38: 3:33018482-33018482
14 GLB1 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) Duplication Pathogenic 202191 rs794729217 GRCh37: 3:33055704-33055705
GRCh38: 3:33014212-33014213
15 GLB1 NM_000404.4(GLB1):c.602G>A (p.Arg201His) SNV Pathogenic 198077 rs189115557 GRCh37: 3:33099712-33099712
GRCh38: 3:33058220-33058220
16 GLB1 NM_000404.4(GLB1):c.176G>A (p.Arg59His) SNV Pathogenic 945 rs72555392 GRCh37: 3:33114105-33114105
GRCh38: 3:33072613-33072613
17 GLB1 NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) SNV Pathogenic 252985 rs371582179 GRCh37: 3:33055549-33055549
GRCh38: 3:33014057-33014057
18 GLB1 NM_000404.4(GLB1):c.176G>A (p.Arg59His) SNV Pathogenic 945 rs72555392 GRCh37: 3:33114105-33114105
GRCh38: 3:33072613-33072613
19 GLB1 NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) SNV Pathogenic 939 rs72555366 GRCh37: 3:33099692-33099692
GRCh38: 3:33058200-33058200
20 GLB1 NM_000404.4(GLB1):c.716C>T (p.Thr239Met) SNV Pathogenic 807421 rs746766232 GRCh37: 3:33099598-33099598
GRCh38: 3:33058106-33058106
21 GLB1 NM_000404.4(GLB1):c.425_426del (p.Lys142fs) Deletion Likely pathogenic 558711 rs1553612150 GRCh37: 3:33109753-33109754
GRCh38: 3:33068261-33068262
22 GLB1 NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) SNV Likely pathogenic 252985 rs371582179 GRCh37: 3:33055549-33055549
GRCh38: 3:33014057-33014057
23 GLB1 NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) SNV Likely pathogenic 92907 rs192732174 GRCh37: 3:33109737-33109737
GRCh38: 3:33068245-33068245
24 GLB1 NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) SNV Likely pathogenic 551757 rs192732174 GRCh37: 3:33109737-33109737
GRCh38: 3:33068245-33068245
25 GLB1 NM_000404.4(GLB1):c.397-1G>A SNV Likely pathogenic 92906 rs398123353 GRCh37: 3:33109783-33109783
GRCh38: 3:33068291-33068291
26 GLB1 NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) SNV Likely pathogenic 92900 rs398123350 GRCh37: 3:33114110-33114110
GRCh38: 3:33072618-33072618
27 GLB1 NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) SNV Likely pathogenic 557709 rs778375259 GRCh37: 3:33038825-33038825
GRCh38: 3:32997333-32997333
28 GLB1 NM_000404.4(GLB1):c.443G>A (p.Arg148His) SNV Likely pathogenic 522884 rs745864233 GRCh37: 3:33109736-33109736
GRCh38: 3:33068244-33068244
29 GLB1 NM_000404.4(GLB1):c.245C>T (p.Thr82Met) SNV Likely pathogenic 935 rs72555393 GRCh37: 3:33114036-33114036
GRCh38: 3:33072544-33072544
30 GLB1 NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter) SNV Likely pathogenic 983740 GRCh37: 3:33059975-33059975
GRCh38: 3:33018483-33018483
31 GLB1 NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter) SNV Likely pathogenic 983741 GRCh37: 3:33093287-33093287
GRCh38: 3:33051795-33051795
32 GLB1 NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) SNV Likely pathogenic 983742 GRCh37: 3:33093470-33093470
GRCh38: 3:33051978-33051978
33 GLB1 NM_000404.4(GLB1):c.775G>T (p.Glu259Ter) SNV Likely pathogenic 983743 GRCh37: 3:33095000-33095000
GRCh38: 3:33053508-33053508
34 GLB1 NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) SNV Likely pathogenic 551496 rs780724173 GRCh37: 3:33059966-33059966
GRCh38: 3:33018474-33018474
35 GLB1 NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) Insertion Likely pathogenic 555117 rs1553606128 GRCh37: 3:33055771-33055772
GRCh38: 3:33014279-33014280
36 GLB1 NM_000404.4(GLB1):c.245+1G>C SNV Likely pathogenic 554728 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
37 GLB1 NM_000404.4(GLB1):c.765G>C (p.Gln255His) SNV Likely pathogenic 554850 rs1553610553 GRCh37: 3:33095010-33095010
GRCh38: 3:33053518-33053518
38 GLB1 , TMPPE NM_000404.4(GLB1):c.65_75+1del Deletion Likely pathogenic 555329 rs1382394474 GRCh37: 3:33138502-33138513
GRCh38: 3:33097010-33097021
39 GLB1 NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) SNV Likely pathogenic 556285 rs1803200 GRCh37: 3:33055568-33055568
GRCh38: 3:33014076-33014076
40 GLB1 NM_000404.4(GLB1):c.1233+1G>A SNV Likely pathogenic 556286 rs1553606984 GRCh37: 3:33063057-33063057
GRCh38: 3:33021565-33021565
41 GLB1 NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) Deletion Likely pathogenic 92893 rs398123348 GRCh37: 3:33063116-33063117
GRCh38: 3:33021624-33021625
42 GLB1 NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) SNV Likely pathogenic 923 rs72555358 GRCh37: 3:33114136-33114136
GRCh38: 3:33072644-33072644
43 GLB1 NM_000404.4(GLB1):c.769_792+13del Deletion Likely pathogenic 556646 rs1282958432 GRCh37: 3:33094970-33095006
GRCh38: 3:33053478-33053514
44 GLB1 NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) SNV Likely pathogenic 929 rs72555361 GRCh37: 3:33093258-33093258
GRCh38: 3:33051766-33051766
45 GLB1 NM_000404.4(GLB1):c.1144-2A>G SNV Likely pathogenic 557226 rs1553607014 GRCh37: 3:33063149-33063149
GRCh38: 3:33021657-33021657
46 GLB1 NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) SNV Likely pathogenic 92910 rs398123355 GRCh37: 3:33107026-33107026
GRCh38: 3:33065534-33065534
47 GLB1 NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) SNV Likely pathogenic 942 rs72555368 GRCh37: 3:33055784-33055784
GRCh38: 3:33014292-33014292
48 GLB1 NM_000404.4(GLB1):c.302del (p.Asp101fs) Deletion Likely pathogenic 557540 rs1553612213 GRCh37: 3:33110406-33110406
GRCh38: 3:33068914-33068914
49 GLB1 NM_000404.4(GLB1):c.626del (p.His209fs) Deletion Likely pathogenic 557667 rs1553611044 GRCh37: 3:33099688-33099688
GRCh38: 3:33058196-33058196
50 GLB1 NM_000404.4(GLB1):c.1479+1G>A SNV Likely pathogenic 557669 rs1022476871 GRCh37: 3:33058200-33058200
GRCh38: 3:33016708-33016708

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

72 (show all 19)
# Symbol AA change Variation ID SNP ID
1 GLB1 p.Arg49Cys VAR_003329 rs72555358
2 GLB1 p.Arg201Cys VAR_003332 rs72555360
3 GLB1 p.Arg590His VAR_008683 rs398123351
4 GLB1 p.Glu632Gly VAR_008686
5 GLB1 p.Arg201His VAR_013542 rs189115557
6 GLB1 p.Gly579Asp VAR_013555 rs746350513
7 GLB1 p.Arg68Trp VAR_026130 rs72555370
8 GLB1 p.Leu155Arg VAR_037939 rs376710410
9 GLB1 p.Arg68Gln VAR_062341 rs572237881
10 GLB1 p.Arg148Cys VAR_062346 rs192732174
11 GLB1 p.Leu264Ser VAR_062355
12 GLB1 p.Tyr333His VAR_062359
13 GLB1 p.Gly262Glu VAR_074057 rs377174858
14 GLB1 p.Phe314Leu VAR_074059
15 GLB1 p.Leu337Pro VAR_074061 rs752177002
16 GLB1 p.Gly414Val VAR_074062
17 GLB1 p.Lys493Asn VAR_074063 rs117243588
18 GLB1 p.Pro597Leu VAR_074065
19 GLB1 p.Thr600Ile VAR_074066

Expression for Gm1-Gangliosidosis, Type Ii

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

Pathways for Gm1-Gangliosidosis, Type Ii

Pathways related to Gm1-Gangliosidosis, Type Ii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 IDS HEXB GLB1
2
Show member pathways
11.86 HEXB GM2A GLB1 CTSA
3
Show member pathways
11.35 HEXB GLB1
4 11.13 IDS HEXB GM2A GLB1 CTSA
5
Show member pathways
10.77 HEXB GLB1
6 10.51 HEXB GLB1
7
Show member pathways
10.43 IDS HEXB GLB1

GO Terms for Gm1-Gangliosidosis, Type Ii

Cellular components related to Gm1-Gangliosidosis, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 PLBD2 HEXB GM2A GLB1 CTSA
2 azurophil granule lumen GO:0035578 9.46 HEXB GM2A GLB1 CTSA
3 lysosome GO:0005764 9.43 PLBD2 IDS HEXB GM2A GLB1 CTSA
4 lysosomal lumen GO:0043202 9.1 PLBD2 IDS HEXB GM2A GLB1 CTSA

Biological processes related to Gm1-Gangliosidosis, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.67 HEXB GM2A GLB1 CTSA
2 neuromuscular process controlling balance GO:0050885 9.46 HEXB GM2A
3 glycosaminoglycan catabolic process GO:0006027 9.43 IDS GLB1
4 lipid storage GO:0019915 9.4 HEXB GM2A
5 chondroitin sulfate catabolic process GO:0030207 9.32 IDS HEXB
6 keratan sulfate catabolic process GO:0042340 9.26 HEXB GLB1
7 oligosaccharide catabolic process GO:0009313 9.16 HEXB GM2A
8 ganglioside catabolic process GO:0006689 8.96 HEXB GM2A
9 glycosphingolipid metabolic process GO:0006687 8.92 HEXB GM2A GLB1 CTSA

Molecular functions related to Gm1-Gangliosidosis, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.32 HEXB GLB1
2 enzyme activator activity GO:0008047 9.26 GM2A CTSA
3 hydrolase activity GO:0016787 9.17 TMPPE PLBD2 IDS HEXB GM2A GLB1
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 HEXB GLB1
5 beta-N-acetylhexosaminidase activity GO:0004563 8.96 HEXB GM2A

Sources for Gm1-Gangliosidosis, Type Ii

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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