MCID: GM1006
MIFTS: 29

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 57 13
Gangliosidosis Gm1 Type 3 76 53 29 6 40
Gangliosidosis Generalized Gm1 Chronic Type 53 75
Gangliosidosis, Generalized Gm1, Type 3 57 73
Gm1 Gangliosidosis Type 3 53 59
Gangliosidosis, Generalized Gm1, Chronic Type 57
Gangliosidosis, Generalized Gm1, Adult Type 57
Gangliosidosis, Generalized Gm1, Type Iii 57
Gm1-Gangliosidosis Generalized Adult Type 75
Gangliosidosis Generalized Gm1 Type 3 75
Beta-Galactosidase Deficiency Type 3 53
Adult-Onset Gm1 Gangliosidosis 59
Adult Gm1 Gangliosidosis 53
Gm1-Gangliosidosis 3 75
Gm1g3 75

Characteristics:

Orphanet epidemiological data:

59
gm1 gangliosidosis type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of disease 3-30 years


HPO:

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


Classifications:



External Ids:

OMIM 57 230650
Orphanet 59 ORPHA79257
ICD10 via Orphanet 34 E75.1
UMLS via Orphanet 74 C0268273
MedGen 42 C0268273
MeSH 44 D016537
UMLS 73 C0268273

Summaries for Gm1-Gangliosidosis, Type Iii

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.

MalaCards based summary : Gm1-Gangliosidosis, Type Iii, also known as gangliosidosis gm1 type 3, is related to generalized gangliosidoses and gangliosidosis gm1. An important gene associated with Gm1-Gangliosidosis, Type Iii is GLB1 (Galactosidase Beta 1). Affiliated tissues include spinal cord, brain and bone, and related phenotypes are abnormality of the face and platyspondyly

OMIM : 57 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 : 75 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 : 76 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 11.2
2 gangliosidosis gm1 10.0

Symptoms & Phenotypes for Gm1-Gangliosidosis, Type Iii

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis
mild platyspondyly
mild anterior beaking of lumbar vertebrae

Voice:
slurred speech

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)

Growth Height:
short stature

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

Head And Neck Face:
normal facies

AbdomenSpleen:
no splenomegaly

Hematology:
foam cells (bone marrow)


Clinical features from OMIM:

230650

Human phenotypes related to Gm1-Gangliosidosis, Type Iii:

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

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 29 GLB1

Anatomical Context for Gm1-Gangliosidosis, Type Iii

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

41
Spinal Cord, Brain, Bone, Skeletal Muscle, Eye, Bone Marrow

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:

75 (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 48)
# 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.152T> C (p.Ile51Thr) single nucleotide variant Pathogenic rs72555390 GRCh38 Chromosome 3, 33072637: 33072637
3 GLB1 NM_000404.3(GLB1): c.1370G> A (p.Arg457Gln) single nucleotide variant Pathogenic rs28934886 GRCh37 Chromosome 3, 33058310: 33058310
4 GLB1 NM_000404.3(GLB1): c.1370G> A (p.Arg457Gln) single nucleotide variant Pathogenic rs28934886 GRCh38 Chromosome 3, 33016818: 33016818
5 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
6 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh38 Chromosome 3, 33016743: 33016743
7 GLB1 NM_000404.3(GLB1): c.245C> T (p.Thr82Met) single nucleotide variant Pathogenic rs72555393 GRCh37 Chromosome 3, 33114036: 33114036
8 GLB1 NM_000404.3(GLB1): c.245C> T (p.Thr82Met) single nucleotide variant Pathogenic rs72555393 GRCh38 Chromosome 3, 33072544: 33072544
9 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
10 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh38 Chromosome 3, 33058200: 33058200
11 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh37 Chromosome 3, 33114105: 33114105
12 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh38 Chromosome 3, 33072613: 33072613
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.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh37 Chromosome 3, 33038803: 33038803
40 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh38 Chromosome 3, 32997311: 32997311
41 GLB1 NM_000404.3(GLB1): c.169delT (p.Tyr57Thrfs) deletion Pathogenic rs794727249 GRCh37 Chromosome 3, 33114112: 33114112
42 GLB1 NM_000404.3(GLB1): c.169delT (p.Tyr57Thrfs) deletion Pathogenic rs794727249 GRCh38 Chromosome 3, 33072620: 33072620
43 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh37 Chromosome 3, 33099712: 33099712
44 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh38 Chromosome 3, 33058220: 33058220
45 GLB1 NM_000404.3(GLB1): c.245+1G> A single nucleotide variant Likely pathogenic rs778423653 GRCh37 Chromosome 3, 33114035: 33114035
46 GLB1 NM_000404.3(GLB1): c.245+1G> A single nucleotide variant Likely pathogenic rs778423653 GRCh38 Chromosome 3, 33072543: 33072543
47 GLB1 NM_000404.3(GLB1): c.175C> T (p.Arg59Cys) single nucleotide variant Pathogenic rs756878418 GRCh37 Chromosome 3, 33114106: 33114106
48 GLB1 NM_000404.3(GLB1): c.175C> T (p.Arg59Cys) single nucleotide variant Pathogenic rs756878418 GRCh38 Chromosome 3, 33072614: 33072614

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

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....