GM1G3
MCID: GM1006
MIFTS: 46

Gm1-Gangliosidosis, Type Iii (GM1G3)

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

Aliases & Classifications for Gm1-Gangliosidosis, Type Iii

MalaCards integrated aliases for Gm1-Gangliosidosis, Type Iii:

Name: Gm1-Gangliosidosis, Type Iii 57 13
Gm1 Gangliosidosis Type 3 12 20 58 29 6 15
Gangliosidosis Generalized Gm1 Chronic Type 20 72
Gangliosidosis, Generalized Gm1, Type 3 57 70
Adult-Onset Gm1 Gangliosidosis 12 58
Gangliosidosis Gm1 Type 3 73 20
Gangliosidosis, Generalized Gm1, Chronic Type 57
Gangliosidosis, Generalized Gm1, Adult Type 57
Gangliosidosis, Generalized Gm1, Type Iii 57
Gm1-Gangliosidosis Generalized Adult Type 72
Gangliosidosis Generalized Gm1 Type 3 72
Beta-Galactosidase Deficiency Type 3 20
Gangliosidosis, Gm1 Type Iii 39
Adult Gm1 Gangliosidosis 20
Gm1-Gangliosidosis 3 72
Gm1g3 72

Characteristics:

Orphanet epidemiological data:

58
gm1 gangliosidosis type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of disease 3-30 years


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0080489
OMIM® 57 230650
MeSH 44 D016537
ICD10 via Orphanet 33 E75.1
UMLS via Orphanet 71 C0268273
Orphanet 58 ORPHA79257
MedGen 41 C0268273
UMLS 70 C0268273

Summaries for Gm1-Gangliosidosis, Type Iii

GARD : 20 GM1 gangliosidosis is an inherited lysosomal 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 gm1 gangliosidosis type 3, is related to gm1 gangliosidosis and gm1-gangliosidosis, type i. An important gene associated with Gm1-Gangliosidosis, Type Iii is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Sphingolipid metabolism and Keratan sulfate/keratin metabolism. Affiliated tissues include spinal cord, bone marrow and bone, and related phenotypes are scoliosis and kyphosis

Disease Ontology : 12 A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage... more...

Related Diseases for Gm1-Gangliosidosis, Type Iii

Diseases in the Gangliosidosis family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii Gm2-Gangliosidosis, Ab Variant
Gm2 Gangliosidosis Gm1 Gangliosidosis
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:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 gm1 gangliosidosis 32.2 TMPPE GLB1
2 gm1-gangliosidosis, type i 30.9 TMPPE GLB1
3 mucopolysaccharidosis, type ivb 30.4 TMPPE GLB1
4 mucopolysaccharidosis iv 30.4 TMPPE GLB1
5 gangliosidosis 30.0 TMPPE HEXB GLB1
6 gm1-gangliosidosis, type ii 29.2 TMPPE PLBD2 HEXB GLB1
7 generalized gangliosidoses 11.3
8 lysosomal storage disease 10.3
9 parkinsonism 10.2
10 myoclonus 10.2
11 speech disorder 10.2
12 dystonia 10.1
13 ataxia and polyneuropathy, adult-onset 10.1
14 inguinal hernia 10.1
15 dysostosis 10.1
16 gingival hypertrophy 10.1
17 glb1-related disorders 10.1
18 chronic pain 10.1
19 hypertonia 10.1
20 lysosomal storage disease with skeletal involvement 10.1
21 morquio syndrome 10.1 TMPPE GLB1
22 chromosome 19q13.11 deletion syndrome 10.0 ZNF302 ZNF181
23 brugada syndrome 5 10.0 ZNF302 ZNF181
24 gm2-gangliosidosis, ab variant 10.0 HEXB GLB1
25 tay-sachs disease 9.8 HEXB GLB1
26 sea-blue histiocyte disease 9.8 SLC66A1 PLBD2
27 mucopolysaccharidosis-plus syndrome 9.7 HEXB GLB1
28 sandhoff disease 9.7 HEXB GLB1 GBA2
29 gm2 gangliosidosis 9.7 HEXB GLB1 GBA2
30 sphingolipidosis 9.7 HEXB GLB1 GBA2
31 gallbladder papillomatosis 9.5 SLC66A1 PLBD2 HEXB

Graphical network of the top 20 diseases related to Gm1-Gangliosidosis, Type Iii:



Diseases related to Gm1-Gangliosidosis, Type Iii

Symptoms & Phenotypes for Gm1-Gangliosidosis, Type Iii

Human phenotypes related to Gm1-Gangliosidosis, Type Iii:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

Abdomen Spleen:
no splenomegaly

Hematology:
foam cells (bone marrow)

Clinical features from OMIM®:

230650 (Updated 05-Apr-2021)

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 Gm1 Gangliosidosis Type 3 29 GLB1

Anatomical Context for Gm1-Gangliosidosis, Type Iii

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

40
Spinal Cord, Bone Marrow, Bone, Skeletal Muscle, Globus Pallidus, Liver, Skin

Publications for Gm1-Gangliosidosis, Type Iii

Articles related to Gm1-Gangliosidosis, Type Iii:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. 57 6
8198123 1994
2
GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients. 57 6
1353343 1992
3
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. 57 6
1909089 1991
4
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. 57 6
1907800 1991
5
Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features. 6 57
6791574 1981
6
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. 6
27750150 2017
7
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 6
27679996 2016
8
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 6
26646981 2016
9
Recurrent and novel GLB1 mutations in India. 6
25936995 2015
10
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 6
25557439 2015
11
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 6
25443580 2015
12
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 6
25600812 2015
13
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 6
26108645 2015
14
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
15
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
16
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. 6
24777551 2014
17
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 6
24767253 2014
18
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. 6
23831247 2013
19
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 6
23337983 2013
20
Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. 6
23151865 2012
21
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. 6
21214877 2012
22
Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 6
22128166 2012
23
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 6
21520340 2011
24
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 6
21497194 2011
25
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 6
20175788 2010
26
Structural bases of GM1 gangliosidosis and Morquio B disease. 6
19644515 2009
27
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 6
19472408 2009
28
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 6
17664528 2007
29
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 6
17309651 2007
30
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 6
17221873 2007
31
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. 6
16941474 2006
32
Fibroblast screening for chaperone therapy in beta-galactosidosis. 6
16617000 2006
33
Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. 6
16674934 2006
34
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 6
16626397 2006
35
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. 6
16314480 2005
36
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 6
15714521 2005
37
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 6
15365997 2004
38
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B. 6
11511921 2001
39
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. 6
10841810 2000
40
Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. 6
10839995 2000
41
Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme. 6
10744681 2000
42
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. 6
10338095 1999
43
Normal serum beta-galactosidase in juvenile GM1 gangliosidosis. 6
8068159 1994
44
Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis). 6
8112731 1994
45
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. 6
8213816 1993
46
Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. 57
1336295 1992
47
Purification and characterization of human liver beta-galactosidase from a patient with the adult form of GM1 gangliosidosis and a normal control. 57
3124890 1988
48
GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor. 57
3084469 1986
49
Chronic GM1 gangliosidosis presenting as dystonia: II. Biochemical studies. 57
6791575 1981
50
Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. 57
6777095 1980

Variations for Gm1-Gangliosidosis, Type Iii

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

6 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLB1 NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) SNV Pathogenic 926 rs72555390 GRCh37: 3:33114129-33114129
GRCh38: 3:33072637-33072637
2 GLB1 NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) SNV Pathogenic 930 rs28934886 GRCh37: 3:33058310-33058310
GRCh38: 3:33016818-33016818
3 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
4 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
5 GLB1 NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) SNV Pathogenic 926 rs72555390 GRCh37: 3:33114129-33114129
GRCh38: 3:33072637-33072637
6 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 GRCh37: 3:33093443-33093443
GRCh38: 3:33051951-33051951
7 GLB1 NM_000404.4(GLB1):c.245C>T (p.Thr82Met) SNV Pathogenic 935 rs72555393 GRCh37: 3:33114036-33114036
GRCh38: 3:33072544-33072544
8 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 GRCh37: 3:33099713-33099713
GRCh38: 3:33058221-33058221
9 GLB1 NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) SNV Pathogenic 941 rs72555372 GRCh37: 3:33087629-33087629
GRCh38: 3:33046137-33046137
10 GLB1 NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) SNV Pathogenic 265179 rs376710410 GRCh37: 3:33107043-33107043
GRCh38: 3:33065551-33065551
11 GLB1 NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) SNV Pathogenic 264673 rs748830051 GRCh37: 3:33110432-33110432
GRCh38: 3:33068940-33068940
12 GLB1 NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) SNV Pathogenic 940 rs72555367 GRCh37: 3:33059974-33059974
GRCh38: 3:33018482-33018482
13 GLB1 NM_000404.4(GLB1):c.176G>A (p.Arg59His) SNV Pathogenic 945 rs72555392 GRCh37: 3:33114105-33114105
GRCh38: 3:33072613-33072613
14 GLB1 NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) SNV Pathogenic 939 rs72555366 GRCh37: 3:33099692-33099692
GRCh38: 3:33058200-33058200
15 GLB1 NM_000404.4(GLB1):c.176G>A (p.Arg59His) SNV Likely pathogenic 945 rs72555392 GRCh37: 3:33114105-33114105
GRCh38: 3:33072613-33072613
16 GLB1 NM_000404.4(GLB1):c.245C>T (p.Thr82Met) SNV Likely pathogenic 935 rs72555393 GRCh37: 3:33114036-33114036
GRCh38: 3:33072544-33072544
17 GLB1 NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) SNV Likely pathogenic 252985 rs371582179 GRCh37: 3:33055549-33055549
GRCh38: 3:33014057-33014057
18 GLB1 NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) SNV Likely pathogenic 92907 rs192732174 GRCh37: 3:33109737-33109737
GRCh38: 3:33068245-33068245
19 GLB1 NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) SNV Likely pathogenic 551757 rs192732174 GRCh37: 3:33109737-33109737
GRCh38: 3:33068245-33068245
20 GLB1 NM_000404.4(GLB1):c.397-1G>A SNV Likely pathogenic 92906 rs398123353 GRCh37: 3:33109783-33109783
GRCh38: 3:33068291-33068291
21 GLB1 NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) SNV Likely pathogenic 92900 rs398123350 GRCh37: 3:33114110-33114110
GRCh38: 3:33072618-33072618
22 GLB1 NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) SNV Likely pathogenic 557709 rs778375259 GRCh37: 3:33038825-33038825
GRCh38: 3:32997333-32997333
23 GLB1 NM_000404.4(GLB1):c.425_426del (p.Lys142fs) Deletion Likely pathogenic 558711 rs1553612150 GRCh37: 3:33109753-33109754
GRCh38: 3:33068261-33068262
24 GLB1 NM_000404.4(GLB1):c.443G>A (p.Arg148His) SNV Likely pathogenic 522884 rs745864233 GRCh37: 3:33109736-33109736
GRCh38: 3:33068244-33068244
25 GLB1 NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter) SNV Likely pathogenic 983740 GRCh37: 3:33059975-33059975
GRCh38: 3:33018483-33018483
26 GLB1 NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter) SNV Likely pathogenic 983741 GRCh37: 3:33093287-33093287
GRCh38: 3:33051795-33051795
27 GLB1 NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) SNV Likely pathogenic 983742 GRCh37: 3:33093470-33093470
GRCh38: 3:33051978-33051978
28 GLB1 NM_000404.4(GLB1):c.775G>T (p.Glu259Ter) SNV Likely pathogenic 983743 GRCh37: 3:33095000-33095000
GRCh38: 3:33053508-33053508
29 GLB1 NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) SNV Likely pathogenic 929 rs72555361 GRCh37: 3:33093258-33093258
GRCh38: 3:33051766-33051766
30 GLB1 NM_000404.4(GLB1):c.1144-2A>G SNV Likely pathogenic 557226 rs1553607014 GRCh37: 3:33063149-33063149
GRCh38: 3:33021657-33021657
31 GLB1 NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) SNV Likely pathogenic 92910 rs398123355 GRCh37: 3:33107026-33107026
GRCh38: 3:33065534-33065534
32 GLB1 NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) SNV Likely pathogenic 942 rs72555368 GRCh37: 3:33055784-33055784
GRCh38: 3:33014292-33014292
33 GLB1 NM_000404.4(GLB1):c.302del (p.Asp101fs) Deletion Likely pathogenic 557540 rs1553612213 GRCh37: 3:33110406-33110406
GRCh38: 3:33068914-33068914
34 GLB1 NM_000404.4(GLB1):c.626del (p.His209fs) Deletion Likely pathogenic 557667 rs1553611044 GRCh37: 3:33099688-33099688
GRCh38: 3:33058196-33058196
35 GLB1 NM_000404.4(GLB1):c.1479+1G>A SNV Likely pathogenic 557669 rs1022476871 GRCh37: 3:33058200-33058200
GRCh38: 3:33016708-33016708
36 GLB1 NM_000404.4(GLB1):c.733+2_733+4del Deletion Likely pathogenic 557859 rs1553611016 GRCh37: 3:33099577-33099579
GRCh38: 3:33058085-33058087
37 GLB1 NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) SNV Likely pathogenic 558213 rs749980306 GRCh37: 3:33087642-33087642
GRCh38: 3:33046150-33046150
38 GLB1 NM_000404.4(GLB1):c.645_648del (p.Val216fs) Deletion Likely pathogenic 554283 rs1553611040 GRCh37: 3:33099666-33099669
GRCh38: 3:33058174-33058177
39 GLB1 NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) SNV Likely pathogenic 551496 rs780724173 GRCh37: 3:33059966-33059966
GRCh38: 3:33018474-33018474
40 GLB1 NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) Insertion Likely pathogenic 555117 rs1553606128 GRCh37: 3:33055771-33055772
GRCh38: 3:33014279-33014280
41 GLB1 , TMPPE NM_000404.4(GLB1):c.65_75+1del Deletion Likely pathogenic 555329 rs1382394474 GRCh37: 3:33138502-33138513
GRCh38: 3:33097010-33097021
42 GLB1 NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) SNV Likely pathogenic 556285 rs1803200 GRCh37: 3:33055568-33055568
GRCh38: 3:33014076-33014076
43 GLB1 NM_000404.4(GLB1):c.1233+1G>A SNV Likely pathogenic 556286 rs1553606984 GRCh37: 3:33063057-33063057
GRCh38: 3:33021565-33021565
44 GLB1 NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) Deletion Likely pathogenic 92893 rs398123348 GRCh37: 3:33063116-33063117
GRCh38: 3:33021624-33021625
45 GLB1 NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) SNV Likely pathogenic 923 rs72555358 GRCh37: 3:33114136-33114136
GRCh38: 3:33072644-33072644
46 GLB1 NM_000404.4(GLB1):c.769_792+13del Deletion Likely pathogenic 556646 rs1282958432 GRCh37: 3:33094970-33095006
GRCh38: 3:33053478-33053514
47 GLB1 NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) SNV Likely pathogenic 284172 rs376663785 GRCh37: 3:33093481-33093481
GRCh38: 3:33051989-33051989
48 GLB1 NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) SNV Likely pathogenic 528328 rs564428355 GRCh37: 3:33059962-33059962
GRCh38: 3:33018470-33018470
49 GLB1 NM_000404.4(GLB1):c.1634dup (p.Asn545fs) Duplication Likely pathogenic 550413 rs754131566 GRCh37: 3:33055647-33055648
GRCh38: 3:33014155-33014156
50 GLB1 NM_000404.4(GLB1):c.433_437del (p.Ile145fs) Deletion Likely pathogenic 550513 rs1553612145 GRCh37: 3:33109742-33109746
GRCh38: 3:33068250-33068254

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

72 (show all 15)
# Symbol AA change Variation ID SNP ID
1 GLB1 p.Ile51Thr VAR_003330 rs72555390
2 GLB1 p.Arg457Gln VAR_003335 rs28934886
3 GLB1 p.Thr82Met VAR_008673 rs72555393
4 GLB1 p.Asp214Tyr VAR_013543
5 GLB1 p.Pro263Ser VAR_013545
6 GLB1 p.Asn266Ser VAR_013546 rs121429588
7 GLB1 p.Tyr270Asp VAR_013547 rs376663785
8 GLB1 p.His281Tyr VAR_013548 rs745386663
9 GLB1 p.Gly438Glu VAR_013551 rs72555367
10 GLB1 p.Leu155Arg VAR_037939 rs376710410
11 GLB1 p.Arg49His VAR_062340 rs780523881
12 GLB1 p.Lys73Glu VAR_062342
13 GLB1 p.Arg148Cys VAR_062346 rs192732174
14 GLB1 p.Thr420Lys VAR_062363
15 GLB1 p.Leu297Phe VAR_074058

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

Cellular components related to Gm1-Gangliosidosis, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.26 SLC66A1 PLBD2 HEXB GLB1
2 azurophil granule lumen GO:0035578 9.16 HEXB GLB1
3 lysosomal lumen GO:0043202 8.8 PLBD2 HEXB GLB1

Biological processes related to Gm1-Gangliosidosis, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.43 HEXB GLB1 GBA2
2 metabolic process GO:0008152 9.33 HEXB GLB1 GBA2
3 keratan sulfate catabolic process GO:0042340 8.96 HEXB GLB1
4 glycosphingolipid metabolic process GO:0006687 8.8 HEXB GLB1 GBA2

Molecular functions related to Gm1-Gangliosidosis, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.55 TMPPE PLBD2 HEXB GLB1 GBA2
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 HEXB GLB1 GBA2
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.8 HEXB GLB1 GBA2

Sources for Gm1-Gangliosidosis, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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