MCID: GM1006

Gm1-Gangliosidosis, Type Iii

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

Aliases & Classifications for Gm1-Gangliosidosis, Type Iii

MalaCards integrated aliases for Gm1-Gangliosidosis, Type Iii:

Name: Gm1-Gangliosidosis, Type Iii 54 13
Gangliosidosis Generalized Gm1 Chronic Type 50 71
Gm1 Gangliosidosis Type 3 50 56
Gangliosidosis Gm1 Type 3 50 29
Gm1-Gangliosidosis Generalized Adult Type 71
Gangliosidosis, Generalized Gm1, Type 3 69
Gangliosidosis Generalized Gm1 Type 3 71
Beta-Galactosidase Deficiency Type 3 50
Adult-Onset Gm1 Gangliosidosis 56
Gm1 Gangliosidosis Type Iii 24
Adult Gm1 Gangliosidosis 50
Gm1-Gangliosidosis 3 71
Gm1g3 71


Orphanet epidemiological data:

gm1 gangliosidosis type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;


autosomal recessive

onset of disease 3-30 years


gm1-gangliosidosis, type iii:
Inheritance autosomal recessive inheritance


Summaries for Gm1-Gangliosidosis, Type Iii

NIH Rare Diseases : 50 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. last updated: 11/17/2015

MalaCards based summary : Gm1-Gangliosidosis, Type Iii, also known as gangliosidosis generalized gm1 chronic type, is related to generalized gangliosidoses and dystonia, and has symptoms including short stature, scoliosis and dystonia. An important gene associated with Gm1-Gangliosidosis, Type Iii is GLB1 (Galactosidase Beta 1). The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone.

UniProtKB/Swiss-Prot : 71 GM1-gangliosidosis 3: A gangliosidosis with a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive.

OMIM : 54
GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (230600). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001). (230650)

Related Diseases for Gm1-Gangliosidosis, Type Iii

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

id Related Disease Score Top Affiliating Genes
1 generalized gangliosidoses 11.1
2 dystonia 10.0

Symptoms & Phenotypes for Gm1-Gangliosidosis, Type Iii

Symptoms via clinical synopsis from OMIM:


Growth- Height:
short stature

Neurologic- Central Nervous System:
normal early development
mental retardation, mild
cerebral atrophy, mild, diffuse
no myoclonus
Muscle Soft Tissue:
muscle atrophy

Head And Neck- Face:
normal facies

Abdomen- Spleen:
no splenomegaly

Head And Neck- Eyes:
no cherry red spots
corneal clouding

Skeletal- Spine:
mild platyspondyly
mild anterior beaking of lumbar vertebrae

Skeletal- Pelvis:
flared iliac wings
hypoplastic acetabulae
flat femoral heads

slurred speech

Abdomen- Liver:
no hepatomegaly

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

foam cells (bone marrow)

Clinical features from OMIM:


Human phenotypes related to Gm1-Gangliosidosis, Type Iii:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 scoliosis 32 HP:0002650
3 dystonia 32 HP:0001332
4 platyspondyly 32 HP:0000926
5 kyphosis 32 HP:0002808
6 intellectual disability, mild 32 HP:0001256
7 flared iliac wings 32 HP:0002869
8 diffuse cerebral atrophy 32 HP:0002506
9 slurred speech 32 HP:0001350
10 hypoplastic acetabulae 32 HP:0003274
11 anterior beaking of lumbar vertebrae 32 HP:0008430
12 skeletal muscle atrophy 32 HP:0003202
13 opacification of the corneal stroma 32 HP:0007759
14 abnormality of the face 32 HP:0000271
15 abnormality of blood and blood-forming tissues 32 HP:0001871
16 decreased beta-galactosidase activity 32 HP:0008166
17 foam cells 32 HP:0003651

Drugs & Therapeutics for Gm1-Gangliosidosis, Type Iii

Drugs for Gm1-Gangliosidosis, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5 Alkylating Agents Phase 2, Phase 3
6 Antilymphocyte Serum Phase 2, Phase 3
7 Antirheumatic Agents Phase 2, Phase 3
8 Immunosuppressive Agents Phase 2, Phase 3
9 Methylprednisolone acetate Phase 2, Phase 3
10 Methylprednisolone Hemisuccinate Phase 2, Phase 3
11 Prednisolone acetate Phase 2, Phase 3
12 Prednisolone hemisuccinate Phase 2, Phase 3
13 Prednisolone phosphate Phase 2, Phase 3

Interventional clinical trials:

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin

Search NIH Clinical Center for Gm1-Gangliosidosis, Type Iii

Genetic Tests for Gm1-Gangliosidosis, Type Iii

Genetic tests related to Gm1-Gangliosidosis, Type Iii:

id Genetic test Affiliating Genes
1 Gangliosidosis Gm1 Type 3 29
2 Gm1 Gangliosidosis Type Iii 24 GLB1

Anatomical Context for Gm1-Gangliosidosis, Type Iii

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

Brain, Spinal Cord, Bone, Skeletal Muscle, Bone Marrow, Eye

Publications for Gm1-Gangliosidosis, Type Iii

Variations for Gm1-Gangliosidosis, Type Iii

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

71 (show all 15)
id Symbol AA change Variation ID SNP ID
1 GLB1 p.Ile51Thr VAR_003330
2 GLB1 p.Arg457Gln VAR_003335
3 GLB1 p.Thr82Met VAR_008673
4 GLB1 p.Asp214Tyr VAR_013543
5 GLB1 p.Pro263Ser VAR_013545
6 GLB1 p.Asn266Ser VAR_013546
7 GLB1 p.Tyr270Asp VAR_013547
8 GLB1 p.His281Tyr VAR_013548
9 GLB1 p.Gly438Glu VAR_013551
10 GLB1 p.Leu155Arg VAR_037939
11 GLB1 p.Arg49His VAR_062340
12 GLB1 p.Lys73Glu VAR_062342
13 GLB1 p.Arg148Cys VAR_062346
14 GLB1 p.Thr420Lys VAR_062363
15 GLB1 p.Leu297Phe VAR_074058

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

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.152T> C (p.Ile51Thr) single nucleotide variant Pathogenic rs72555390 GRCh37 Chromosome 3, 33114129: 33114129
2 GLB1 NM_000404.3(GLB1): c.1370G> A (p.Arg457Gln) single nucleotide variant Pathogenic rs28934886 GRCh37 Chromosome 3, 33058310: 33058310
3 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
4 GLB1 NM_000404.3(GLB1): c.245C> T (p.Thr82Met) single nucleotide variant Pathogenic rs72555393 GRCh37 Chromosome 3, 33114036: 33114036
5 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
6 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh37 Chromosome 3, 33114105: 33114105
7 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh37 Chromosome 3, 33087676: 33087676
8 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh37 Chromosome 3, 33063116: 33063117
9 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh37 Chromosome 3, 33059977: 33059977
10 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh37 Chromosome 3, 33058214: 33058224
11 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh37 Chromosome 3, 33114110: 33114110
12 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh37 Chromosome 3, 33038802: 33038802
13 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh37 Chromosome 3, 33109783: 33109783
14 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh37 Chromosome 3, 33109737: 33109737
15 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh37 Chromosome 3, 33109720: 33109720
16 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh37 Chromosome 3, 33138527: 33138527
17 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh37 Chromosome 3, 33138502: 33138502
18 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh38 Chromosome 3, 33051896: 33051896
19 GLB1 NM_000404.3(GLB1): c.1077delA (p.Val360Tyrfs) deletion Pathogenic rs727503952 GRCh37 Chromosome 3, 33065809: 33065809
20 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh37 Chromosome 3, 33038803: 33038803
21 GLB1 NM_000404.3(GLB1): c.169delT (p.Tyr57Thrfs) deletion Pathogenic rs794727249 GRCh37 Chromosome 3, 33114112: 33114112
22 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh37 Chromosome 3, 33099712: 33099712
23 GLB1 NM_000404.3(GLB1): c.245+1G> A single nucleotide variant Likely pathogenic rs778423653 GRCh37 Chromosome 3, 33114035: 33114035

Expression for Gm1-Gangliosidosis, Type Iii

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

Pathways for Gm1-Gangliosidosis, Type Iii

GO Terms for Gm1-Gangliosidosis, Type Iii

Sources for Gm1-Gangliosidosis, Type Iii

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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