MCID: GM1005
MIFTS: 35

Gm1-Gangliosidosis, Type Ii

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic 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 gangliosidosis gm1, 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 gangliosidosis gm1 10.3

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

AbdomenSpleen:
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 Phase 4 19130-96-2 1374
3 Anti-HIV Agents Phase 4
4 Anti-Infective 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

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, Bone Marrow, Spleen

Publications for Gm1-Gangliosidosis, Type Ii

Articles related to Gm1-Gangliosidosis, Type Ii:

# Title Authors Year
1
GM1 gangliosidosis type 2 in two siblings. ( 1588015 )
1992
2
GM1 gangliosidosis, type 2: ocular clinicopathologic correlation. ( 6440832 )
1984
3
Studies on GM1-gangliosidosis, type II. ( 4217089 )
1974
4
Intrauterine detection of GM1 gangliosidosis, type 2. ( 4742246 )
1973

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 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
2 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh38 Chromosome 3, 33016743: 33016743
3 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
4 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh38 Chromosome 3, 33058200: 33058200
5 GLB1 NM_000404.3(GLB1): c.202C> T (p.Arg68Trp) single nucleotide variant Pathogenic rs72555370 GRCh37 Chromosome 3, 33114079: 33114079
6 GLB1 NM_000404.3(GLB1): c.202C> T (p.Arg68Trp) single nucleotide variant Pathogenic rs72555370 GRCh38 Chromosome 3, 33072587: 33072587
7 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh37 Chromosome 3, 33114105: 33114105
8 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh38 Chromosome 3, 33072613: 33072613
9 GLB1 NM_000404.3(GLB1): c.319T> C (p.Phe107Leu) single nucleotide variant Likely pathogenic rs397515616 GRCh37 Chromosome 3, 33110389: 33110389
10 GLB1 NM_000404.3(GLB1): c.319T> C (p.Phe107Leu) single nucleotide variant Likely pathogenic rs397515616 GRCh38 Chromosome 3, 33068897: 33068897
11 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh37 Chromosome 3, 33106989: 33106989
12 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh38 Chromosome 3, 33065497: 33065497
13 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh37 Chromosome 3, 33087676: 33087676
14 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh38 Chromosome 3, 33046184: 33046184
15 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh37 Chromosome 3, 33063116: 33063117
16 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh38 Chromosome 3, 33021624: 33021625
17 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh37 Chromosome 3, 33059977: 33059977
18 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh38 Chromosome 3, 33018485: 33018485
19 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh37 Chromosome 3, 33058214: 33058224
20 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh38 Chromosome 3, 33016722: 33016732
21 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh37 Chromosome 3, 33114110: 33114110
22 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh38 Chromosome 3, 33072618: 33072618
23 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh37 Chromosome 3, 33038802: 33038802
24 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh38 Chromosome 3, 32997310: 32997310
25 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh37 Chromosome 3, 33109783: 33109783
26 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh38 Chromosome 3, 33068291: 33068291
27 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh37 Chromosome 3, 33109737: 33109737
28 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh38 Chromosome 3, 33068245: 33068245
29 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh37 Chromosome 3, 33109720: 33109720
30 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh38 Chromosome 3, 33068228: 33068228
31 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh37 Chromosome 3, 33138527: 33138527
32 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh38 Chromosome 3, 33097035: 33097035
33 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh37 Chromosome 3, 33138502: 33138502
34 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh38 Chromosome 3, 33097010: 33097010
35 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh37 Chromosome 3, 33093388: 33093388
36 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh38 Chromosome 3, 33051896: 33051896
37 GLB1 NM_000404.3(GLB1): c.1077delA (p.Val360Tyrfs) deletion Pathogenic rs727503952 GRCh37 Chromosome 3, 33065809: 33065809
38 GLB1 NM_000404.3(GLB1): c.1077delA (p.Val360Tyrfs) deletion Pathogenic rs727503952 GRCh38 Chromosome 3, 33024317: 33024317
39 GLB1 NM_000404.3(GLB1): c.1A> C (p.Met1Leu) single nucleotide variant Likely pathogenic rs794726886 GRCh37 Chromosome 3, 33138577: 33138577
40 GLB1 NM_000404.3(GLB1): c.1A> C (p.Met1Leu) single nucleotide variant Likely pathogenic rs794726886 GRCh38 Chromosome 3, 33097085: 33097085
41 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh37 Chromosome 3, 33038803: 33038803
42 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh38 Chromosome 3, 32997311: 32997311
43 GLB1 NM_000404.3(GLB1): c.169delT (p.Tyr57Thrfs) deletion Pathogenic rs794727249 GRCh37 Chromosome 3, 33114112: 33114112
44 GLB1 NM_000404.3(GLB1): c.169delT (p.Tyr57Thrfs) deletion Pathogenic rs794727249 GRCh38 Chromosome 3, 33072620: 33072620
45 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh37 Chromosome 3, 33099712: 33099712
46 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh38 Chromosome 3, 33058220: 33058220
47 GLB1 NM_000404.3(GLB1): c.1733A> G (p.Lys578Arg) single nucleotide variant Pathogenic rs371582179 GRCh37 Chromosome 3, 33055549: 33055549
48 GLB1 NM_000404.3(GLB1): c.1733A> G (p.Lys578Arg) single nucleotide variant Pathogenic rs371582179 GRCh38 Chromosome 3, 33014057: 33014057
49 GLB1 NM_000404.3(GLB1): c.245+1G> A single nucleotide variant Likely pathogenic rs778423653 GRCh37 Chromosome 3, 33114035: 33114035
50 GLB1 NM_000404.3(GLB1): c.245+1G> A single nucleotide variant Likely pathogenic rs778423653 GRCh38 Chromosome 3, 33072543: 33072543

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

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