MCID: GM1006
MIFTS: 30

Gm1-Gangliosidosis, Type Iii

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

Aliases & Classifications for Gm1-Gangliosidosis, Type Iii

MalaCards integrated aliases for Gm1-Gangliosidosis, Type Iii:

Name: Gm1-Gangliosidosis, Type Iii 53 13
Gangliosidosis Gm1 Type 3 72 49 28
Gangliosidosis Generalized Gm1 Chronic Type 49 71
Gangliosidosis, Generalized Gm1, Type 3 53 69
Gm1 Gangliosidosis Type 3 49 55
Gangliosidosis, Generalized Gm1, Chronic Type 53
Gangliosidosis, Generalized Gm1, Adult Type 53
Gangliosidosis, Generalized Gm1, Type Iii 53
Gm1-Gangliosidosis Generalized Adult Type 71
Gangliosidosis Generalized Gm1 Type 3 71
Beta-Galactosidase Deficiency Type 3 49
Adult-Onset Gm1 Gangliosidosis 55
Adult Gm1 Gangliosidosis 49
Gm1-Gangliosidosis 3 71
Gm1g3 71

Characteristics:

Orphanet epidemiological data:

55
gm1 gangliosidosis type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset of disease 3-30 years


HPO:

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


Classifications:



External Ids:

OMIM 53 230650
Orphanet 55 ORPHA79257
UMLS via Orphanet 70 C0268273
ICD10 via Orphanet 33 E75.1
MedGen 39 C0268273
MeSH 41 D016537
UMLS 69 C0268273

Summaries for Gm1-Gangliosidosis, Type Iii

NIH Rare Diseases : 49 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 gm1 type 3, is related to generalized gangliosidoses and dystonia, and has symptoms including dystonia, scoliosis and kyphosis. An important gene associated with Gm1-Gangliosidosis, Type Iii is GLB1 (Galactosidase Beta 1). Affiliated tissues include brain, spinal cord and bone.

OMIM : 53 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)

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.

Wikipedia : 72 The GM1 gangliosidoses (or GM1 gangliosidosis) are caused by a deficiency of beta-galactosidase, with... more...

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:

# Related Disease Score Top Affiliating Genes
1 generalized gangliosidoses 11.3
2 dystonia 10.1

Symptoms & Phenotypes for Gm1-Gangliosidosis, Type Iii

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
dystonia
mental retardation, mild
normal early development
cerebral atrophy, mild, diffuse
no myoclonus
more
Growth Height:
short stature

Skeletal Pelvis:
flared iliac wings
hypoplastic acetabulae
flat femoral heads

Head And Neck Eyes:
corneal clouding
no cherry red spots

Abdomen Liver:
no hepatomegaly

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

Skeletal Spine:
scoliosis
kyphosis
mild platyspondyly
mild anterior beaking of lumbar vertebrae

Voice:
slurred speech

Muscle Soft Tissue:
muscle atrophy

Head And Neck Face:
normal facies

Abdomen Spleen:
no splenomegaly

Hematology:
foam cells (bone marrow)


Clinical features from OMIM:

230650

Human phenotypes related to Gm1-Gangliosidosis, Type Iii:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 dystonia 31 HP:0001332
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 anterior beaking of lumbar vertebrae 31 HP:0008430
5 short stature 31 HP:0004322
6 intellectual disability, mild 31 HP:0001256
7 skeletal muscle atrophy 31 HP:0003202
8 opacification of the corneal stroma 31 HP:0007759
9 platyspondyly 31 HP:0000926
10 slurred speech 31 HP:0001350
11 abnormality of the face 31 HP:0000271
12 abnormality of blood and blood-forming tissues 31 HP:0001871
13 flared iliac wings 31 HP:0002869
14 diffuse cerebral atrophy 31 HP:0002506
15 foam cells 31 HP:0003651
16 hypoplastic acetabulae 31 HP:0003274
17 decreased beta-galactosidase activity 31 HP:0008166

Drugs & Therapeutics for Gm1-Gangliosidosis, Type Iii

Search Clinical Trials , NIH Clinical Center for Gm1-Gangliosidosis, Type Iii

Genetic Tests for Gm1-Gangliosidosis, Type Iii

Genetic tests related to Gm1-Gangliosidosis, Type Iii:

# Genetic test Affiliating Genes
1 Gangliosidosis Gm1 Type 3 28 GLB1

Anatomical Context for Gm1-Gangliosidosis, Type Iii

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

38
Brain, Spinal Cord, Bone, Eye, Bone Marrow, Skeletal Muscle

Publications for Gm1-Gangliosidosis, Type Iii

Articles related to Gm1-Gangliosidosis, Type Iii:

# Title Authors Year
1
GM1 gangliosidosis type 3 with severe jaw-closing impairment. ( 9395131 )
1997

Variations for Gm1-Gangliosidosis, Type Iii

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

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

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70 UMLS via Orphanet
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