GM1G2
MCID: GM1005
MIFTS: 37

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 40
Gm1 Gangliosidosis Type 2 53 59 29 6
Gangliosidosis, Generalized Gm1, Type 2 57 73
Gangliosidosis Generalized Gm1 Type 2 53 75
Gangliosidosis, Generalized Gm1, Late-Infantile Type 29
Gangliosidosis Generalized Gm1 Late Infantile Type 75
Gangliosidosis, Generalized Gm1, Juvenile Type 57
Gangliosidosis Generalized Gm1 Juvenile Type 53
Gm1-Gangliosidosis Generalized Juvenile Type 75
Gangliosidosis, Generalized Gm1, Type Ii 57
Late-Infantile Gm1 Gangliosidosis 59
Juvenile Gm1 Gangliosidosis 59
Gm1-Gangliosidosis 2 75
Gm1g2 75

Characteristics:

Orphanet epidemiological data:

59
gm1 gangliosidosis type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
gm1-gangliosidosis, type ii:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Gm1-Gangliosidosis, Type Ii, also known as gm1 gangliosidosis type 2, is related to generalized gangliosidoses and gm1-gangliosidosis, type i, and has symptoms including myoclonic seizures An important gene associated with Gm1-Gangliosidosis, Type Ii 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 bone, and related phenotypes are ataxia and gait disturbance

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

# Related Disease Score Top Affiliating Genes
1 generalized gangliosidoses 11.5
2 gm1-gangliosidosis, type i 10.5
3 lysosomal storage disease 10.3
4 gangliosidosis gm1 10.0

Symptoms & Phenotypes for Gm1-Gangliosidosis, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic atrophy

Neurologic Central Nervous System:
progressive psychomotor deterioration
ventriculomegaly
cerebral atrophy
myoclonic seizures
spastic quadriplegia
more
Head And Neck Face:
normal facies

Abdomen Spleen:
no splenomegaly

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

Skeletal Pelvis:
coxa valga
mild flaring of iliac wings

Skeletal Spine:
mild platyspondyly

Abdomen Liver:
no hepatomegaly

Hematology:
sea-blue histiocyte (bone marrow)


Clinical features from OMIM:

230600

Human phenotypes related to Gm1-Gangliosidosis, Type Ii:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 gait disturbance 32 HP:0001288
3 optic atrophy 32 HP:0000648
4 spastic tetraplegia 32 HP:0002510
5 generalized myoclonic seizures 32 HP:0002123
6 platyspondyly 32 HP:0000926
7 coxa valga 32 HP:0002673
8 developmental stagnation 32 HP:0007281
9 progressive psychomotor deterioration 32 HP:0007272
10 ventriculomegaly 32 HP:0002119
11 abnormality of the face 32 HP:0000271
12 abnormality of the spleen 32 HP:0001743
13 abnormality of the liver 32 HP:0001392
14 cerebral atrophy 32 HP:0002059
15 sea-blue histiocytosis 32 HP:0001982
16 decreased beta-galactosidase activity 32 HP:0008166

UMLS symptoms related to Gm1-Gangliosidosis, Type Ii:


myoclonic seizures

Drugs & Therapeutics for Gm1-Gangliosidosis, Type Ii

Drugs for Gm1-Gangliosidosis, Type Ii (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 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:

41
Brain, Spinal Cord, Bone, Liver, Eye, Spleen, Bone Marrow

Publications for Gm1-Gangliosidosis, Type Ii

Articles related to Gm1-Gangliosidosis, Type Ii:

# Title Authors Year
1
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. ( 30187681 )
2018
2
GM1 gangliosidosis type 2 in two siblings. ( 1588015 )
1992
3
GM1 gangliosidosis, type 2: ocular clinicopathologic correlation. ( 6440832 )
1984
4
GM1 gangliosidosis, type II. ( 7118242 )
1982
5
Abnormalities in cerebral lipids and hepatic cholesterol glucuronide of a patient with GM1-gangliosidosis type 2. ( 7136918 )
1982
6
A variant of GM1-gangliosidosis type 2 and enzymic differences between GM1-gangliosidosis types 1 and 2. ( 810921 )
1975
7
Studies on GM1-gangliosidosis, type II. ( 4217089 )
1974
8
Intrauterine detection of GM1 gangliosidosis, type 2. ( 4742246 )
1973
9
GM1 gangliosidosis type II. ( 5473215 )
1970

Variations for Gm1-Gangliosidosis, Type Ii

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

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

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

6 (show top 50) (show all 222)
# 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_000404.3(GLB1): c.947A> G (p.Tyr316Cys) single nucleotide variant Likely pathogenic rs72555361 GRCh37 Chromosome 3, 33093258: 33093258
10 GLB1 NM_000404.3(GLB1): c.947A> G (p.Tyr316Cys) single nucleotide variant Likely pathogenic rs72555361 GRCh38 Chromosome 3, 33051766: 33051766
11 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
12 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh38 Chromosome 3, 33016743: 33016743
13 GLB1 NM_000404.3(GLB1): c.245C> T (p.Thr82Met) single nucleotide variant Pathogenic/Likely pathogenic rs72555393 GRCh37 Chromosome 3, 33114036: 33114036
14 GLB1 NM_000404.3(GLB1): c.245C> T (p.Thr82Met) single nucleotide variant Pathogenic/Likely pathogenic rs72555393 GRCh38 Chromosome 3, 33072544: 33072544
15 GLB1 NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys) single nucleotide variant Uncertain significance rs72555365 GRCh37 Chromosome 3, 33058236: 33058236
16 GLB1 NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys) single nucleotide variant Uncertain significance rs72555365 GRCh38 Chromosome 3, 33016744: 33016744
17 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
18 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh38 Chromosome 3, 33058200: 33058200
19 GLB1 NM_000404.3(GLB1): c.1051C> T (p.Arg351Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72555372 GRCh37 Chromosome 3, 33087629: 33087629
20 GLB1 NM_000404.3(GLB1): c.1051C> T (p.Arg351Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72555372 GRCh38 Chromosome 3, 33046137: 33046137
21 GLB1 NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala) single nucleotide variant Likely pathogenic rs72555368 GRCh37 Chromosome 3, 33055784: 33055784
22 GLB1 NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala) single nucleotide variant Likely pathogenic rs72555368 GRCh38 Chromosome 3, 33014292: 33014292
23 GLB1 NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro) single nucleotide variant Uncertain significance rs72555369 GRCh37 Chromosome 3, 33063068: 33063068
24 GLB1 NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro) single nucleotide variant Uncertain significance rs72555369 GRCh38 Chromosome 3, 33021576: 33021576
25 GLB1 NM_000404.3(GLB1): c.202C> T (p.Arg68Trp) single nucleotide variant Pathogenic rs72555370 GRCh37 Chromosome 3, 33114079: 33114079
26 GLB1 NM_000404.3(GLB1): c.202C> T (p.Arg68Trp) single nucleotide variant Pathogenic rs72555370 GRCh38 Chromosome 3, 33072587: 33072587
27 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh37 Chromosome 3, 33114105: 33114105
28 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh38 Chromosome 3, 33072613: 33072613
29 GLB1 NM_000404.3(GLB1): c.1772A> G (p.Tyr591Cys) single nucleotide variant Uncertain significance rs72555371 GRCh37 Chromosome 3, 33038799: 33038799
30 GLB1 NM_000404.3(GLB1): c.1772A> G (p.Tyr591Cys) single nucleotide variant Uncertain significance rs72555371 GRCh38 Chromosome 3, 32997307: 32997307
31 GLB1 NM_000404.3(GLB1): c.1061T> G (p.Ile354Ser) single nucleotide variant not provided rs397515613 GRCh37 Chromosome 3, 33087619: 33087619
32 GLB1 NM_000404.3(GLB1): c.1061T> G (p.Ile354Ser) single nucleotide variant not provided rs397515613 GRCh38 Chromosome 3, 33046127: 33046127
33 GLB1 NM_000404.3(GLB1): c.1150A> T (p.Thr384Ser) single nucleotide variant not provided rs397515614 GRCh37 Chromosome 3, 33063141: 33063141
34 GLB1 NM_000404.3(GLB1): c.1150A> T (p.Thr384Ser) single nucleotide variant not provided rs397515614 GRCh38 Chromosome 3, 33021649: 33021649
35 GLB1 NM_000404.3(GLB1): c.319T> C (p.Phe107Leu) single nucleotide variant Likely pathogenic rs397515616 GRCh37 Chromosome 3, 33110389: 33110389
36 GLB1 NM_000404.3(GLB1): c.319T> C (p.Phe107Leu) single nucleotide variant Likely pathogenic rs397515616 GRCh38 Chromosome 3, 33068897: 33068897
37 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh37 Chromosome 3, 33106989: 33106989
38 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh38 Chromosome 3, 33065497: 33065497
39 GLB1 NM_000404.3(GLB1): c.456A> T (p.Pro152=) single nucleotide variant not provided rs397515618 GRCh37 Chromosome 3, 33109723: 33109723
40 GLB1 NM_000404.3(GLB1): c.456A> T (p.Pro152=) single nucleotide variant not provided rs397515618 GRCh38 Chromosome 3, 33068231: 33068231
41 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh37 Chromosome 3, 33087676: 33087676
42 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh38 Chromosome 3, 33046184: 33046184
43 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic/Likely pathogenic rs398123348 GRCh37 Chromosome 3, 33063116: 33063117
44 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic/Likely pathogenic rs398123348 GRCh38 Chromosome 3, 33021624: 33021625
45 GLB1 NM_001135602.2(GLB1): c.913C> T (p.Leu305Phe) single nucleotide variant Benign/Likely benign rs34421970 GRCh37 Chromosome 3, 33059981: 33059981
46 GLB1 NM_001135602.2(GLB1): c.913C> T (p.Leu305Phe) single nucleotide variant Benign/Likely benign rs34421970 GRCh38 Chromosome 3, 33018489: 33018489
47 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202237232 GRCh37 Chromosome 3, 33059977: 33059977
48 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202237232 GRCh38 Chromosome 3, 33018485: 33018485
49 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic/Likely pathogenic rs398123349 GRCh37 Chromosome 3, 33058214: 33058224
50 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic/Likely pathogenic rs398123349 GRCh38 Chromosome 3, 33016722: 33016732

Expression for Gm1-Gangliosidosis, Type Ii

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

Pathways for Gm1-Gangliosidosis, Type Ii

GO Terms for Gm1-Gangliosidosis, Type Ii

Sources for Gm1-Gangliosidosis, Type Ii

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
Content
Loading form....