MCID: GNG001
MIFTS: 54

Gangliosidosis Gm1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases categories

Aliases & Classifications for Gangliosidosis Gm1

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Gangliosidosis Gm1, Aliases & Descriptions:

Name: Gangliosidosis Gm1 9 43 60
Gm1 Gangliosidosis 9 41 20 21 47 22
Beta-Galactosidase-1 Deficiency 41 47
Beta-Galactosidase Deficiency 9 60
Glb1 Deficiency 41 47
Landing Disease 41 47
Gangliosidosis, Generalized Gm1, Type 1 60
 
Beta-Galactosidase-1 Deficiency 21
Deficiency of Beta-Galactosidase 9
Beta Galactosidase 1 Deficiency 41
Gm 1 Gangliosidosis 9
Beta-Galactosidosis 41
Landing Syndrome 9
Glb 1 Deficiency 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
gm1 gangliosidosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-5/10000 (Malta),1-9/100000 (Brazil); Age of onset: Childhood; Age of death: any age


External Ids:

Disease Ontology9 DOID:3322
NCIt38 C84739
MeSH33 D016537
Orphanet47 354
SNOMED-CT55 238025006, 32917001
MESH via Orphanet34 D016537
ICD10 via Orphanet26 E75.1
UMLS via Orphanet61 C0085131

Summaries for Gangliosidosis Gm1

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NIH Rare Diseases:41 Gm1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. the three types include: classic infantile (type 1), juvenile (type 2), and adult onset or chronic (type 3). although the three types differ in severity, their features can overlap significantly. because of this overlap, other researchers believe that gm1 gangliosidosis represents a continuous disease spectrum instead of three distinct types. this condition is caused by mutations in the glb1 gene and is inherited in an autosomal recessive fashion. last updated: 4/3/2012

MalaCards based summary: Gangliosidosis Gm1, also known as gm1 gangliosidosis, is related to mucolipidosis and krabbe disease, and has symptoms including coarse facial features, long philtrum and macrotia. An important gene associated with Gangliosidosis Gm1 is GLB1 (galactosidase, beta 1), and among its related pathways are Galactose metabolism and Glycosaminoglycan degradation. The compounds Galactosylglycerol and D-Galactose have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related mouse phenotypes are hearing/vestibular/ear and hematopoietic system.

Genetics Home Reference:21 GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.

Related Diseases for Gangliosidosis Gm1

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Diseases in the Gangliosidosis family:

Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii Gm2-Gangliosidosis, Ab Variant
gangliosidosis gm1 Gangliosidosis Gm2
Gm2 Gangliosidosis, 0 Variant Gm2-Gangliosidosis, B, B1, Ab Variant

Diseases related to Gangliosidosis Gm1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis30.9ARSA, GLB1
2krabbe disease30.7PSAP, GLB1, ARSA
3gangliosidosis30.5HEXA, GLB1, NEU1, PSAP
4mucopolysaccharidosis iv30.4GLB1, NEU1
5fabry disease30.2PSAP, GLA, ARSA
6mucopolysaccharidosis30.2ARSA, HEXA, GLB1
7lysosomal storage disease29.3ARSA, GLB1, PSAP, NEU1, HEXA, GLA
8dystonia10.7
9neuronitis10.5
10gm1-gangliosidosis, type i10.5
11gm1-gangliosidosis, type iii10.5
12mongolian spot10.5
13galactosialidosis10.5
14cerebritis10.4
15neuronal ceroid lipofuscinosis10.4
16fucosidosis10.3HEXA
17gaucher's disease10.3PSAP
18leukodystrophy10.2PSAP
19gm1-gangliosidosis, type ii10.2
20insulin-like growth factor i10.2
21dilated cardiomyopathy10.2
22hepatitis10.2
23basal ganglia calcification10.2
24angiokeratoma10.2
25dementia10.2
26myopathy10.2
27hydrops fetalis10.2
28rhombencephalosynapsis10.2
29cerebral atrophy10.2
30cerebellar ataxia10.2
31mucolipidoses10.2
32myoclonus epilepsy10.2
33ataxia10.2
34myoclonus10.2
35sphingolipidosis10.1PSAP, ARSA
36metachromatic leukodystrophy10.1ARSA, PSAP
37sandhoff disease, infantile, juvenile, and adult forms10.1HEXA, ARSA
38noonan syndrome 110.1GLB1, GLA
39mucolipidosis ii alpha/beta9.9NEU1, PSAP
40iga glomerulonephritis9.8GLA, NEU1
41alcohol dependence9.8ARSA, NEU1
42tay-sachs disease9.7PSAP, NEU1, HEXA
43metabolic syndrome x9.5ARSA, GLA, NEU1, HEXA

Graphical network of the top 20 diseases related to Gangliosidosis Gm1:



Diseases related to gangliosidosis gm1

Symptoms for Gangliosidosis Gm1

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Symptoms:

 47 (show all 50)
  • frontal bossing/prominent forehead
  • coarse face
  • nystagmus
  • broad nose/nasal bridge
  • flattened nose
  • long philtrum
  • long/large ear
  • scoliosis
  • absent/hypotonic/flaccid abdominal wall muscles
  • storage liver disease
  • splenomegaly
  • encephalitis
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • rough trabeculation of bone
  • metaphyseal anomaly
  • epiphyseal anomaly
  • diaphyseal anomaly
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • lipidosis/sulfatidosis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • prognathism/prognathia
  • corneal clouding/opacity/vascularisation
  • strabismus/squint
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • thickened/hypertrophic/fibromatous gingivae
  • lordosis
  • abnormal vertebral size/shape
  • inguinal/inguinoscrotal/crural hernia
  • camptodactyly of fingers
  • anomalies of skin, subcutaneous tissue and mucosae
  • hirsutism/hypertrichosis/increased body hair
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • tremor
  • dystonia/torticollis/writer's cramp/blepharospasms
  • seizures/epilepsy/absences/spasms/status epilepticus
  • retinal vascular anomalies/retinal telangiectasia
  • macular pigmentary anomaly/cherry-red spot
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • repeat respiratory infections
  • heart/cardiac failure
  • scrotum abnormalities

HPO human phenotypes related to Gangliosidosis Gm1:

(show all 42)
id Description Frequency HPO Source Accession
1 coarse facial features hallmark (90%) HP:0000280
2 long philtrum hallmark (90%) HP:0000343
3 macrotia hallmark (90%) HP:0000400
4 depressed nasal ridge hallmark (90%) HP:0000457
5 nystagmus hallmark (90%) HP:0000639
6 abnormal diaphysis morphology hallmark (90%) HP:0000940
7 abnormality of the metaphyses hallmark (90%) HP:0000944
8 muscular hypotonia hallmark (90%) HP:0001252
9 hypertonia hallmark (90%) HP:0001276
10 hyperreflexia hallmark (90%) HP:0001347
11 limitation of joint mobility hallmark (90%) HP:0001376
12 splenomegaly hallmark (90%) HP:0001744
13 weight loss hallmark (90%) HP:0001824
14 frontal bossing hallmark (90%) HP:0002007
15 encephalitis hallmark (90%) HP:0002383
16 scoliosis hallmark (90%) HP:0002650
17 skeletal dysplasia hallmark (90%) HP:0002652
18 arthralgia hallmark (90%) HP:0002829
19 short stature hallmark (90%) HP:0004322
20 abnormality of the epiphyses hallmark (90%) HP:0005930
21 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
22 rough bone trabeculation hallmark (90%) HP:0100670
23 abnormality of the tongue typical (50%) HP:0000157
24 gingival overgrowth typical (50%) HP:0000212
25 mandibular prognathia typical (50%) HP:0000303
26 strabismus typical (50%) HP:0000486
27 hypertrichosis typical (50%) HP:0000998
28 seizures typical (50%) HP:0001250
29 tremor typical (50%) HP:0001337
30 incoordination typical (50%) HP:0002311
31 hyperlordosis typical (50%) HP:0003307
32 abnormal form of the vertebral bodies typical (50%) HP:0003312
33 hernia of the abdominal wall typical (50%) HP:0004299
34 opacification of the corneal stroma typical (50%) HP:0007759
35 camptodactyly of finger typical (50%) HP:0100490
36 abnormality of the scrotum occasional (7.5%) HP:0000045
37 visual impairment occasional (7.5%) HP:0000505
38 optic atrophy occasional (7.5%) HP:0000648
39 abnormality of the macula occasional (7.5%) HP:0001103
40 congestive heart failure occasional (7.5%) HP:0001635
41 recurrent respiratory infections occasional (7.5%) HP:0002205
42 abnormality of the retinal vasculature occasional (7.5%) HP:0008046

Drugs & Therapeutics for Gangliosidosis Gm1

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Drug clinical trials:

Search ClinicalTrials for Gangliosidosis Gm1

Search NIH Clinical Center for Gangliosidosis Gm1

Genetic Tests for Gangliosidosis Gm1

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Genetic tests related to Gangliosidosis Gm1:

id Genetic test Affiliating Genes
1 Gm1 Gangliosidosis20 22

Anatomical Context for Gangliosidosis Gm1

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MalaCards organs/tissues related to Gangliosidosis Gm1:

31
Brain, Spinal cord, Bone, Heart, Tongue, Eye, Liver, Skin

Animal Models for Gangliosidosis Gm1 or affiliated genes

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MGI Mouse Phenotypes related to Gangliosidosis Gm1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6PSAP, HEXA, ARSA
2MP:00053978.3PSAP, ARSA, GLB1, NEU1
3MP:00053908.0GLB1, PSAP, NEU1, HEXA
4MP:00053877.9GLB1, PSAP, ARSA, NEU1, GLA
5MP:00053707.8NEU1, HEXA, GLA, PSAP, GLB1
6MP:00053677.7GLB1, PSAP, GLA, NEU1, HEXA
7MP:00036317.7GLB1, NEU1, PSAP, ARSA, HEXA
8MP:00053767.6NEU1, ARSA, GLB1, PSAP, HEXA
9MP:00053867.3ARSA, HEXA, NEU1, PSAP, GLA, GLB1

Publications for Gangliosidosis Gm1

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Articles related to Gangliosidosis Gm1:

idTitleAuthorsYear
1
Gangliosidosis (GM1). A re-evaluation of the vertebral deformity. (4134673)
1974
2
Ultrastructure of heart muscle in generalized gangliosidosis GM1. (5580605)
1971
3
Generalized gangliosidosis--GM1 (Langing disease). II. Morphological study. (4191160)
1970

Variations for Gangliosidosis Gm1

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Clinvar genetic disease variations for Gangliosidosis Gm1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GLB1NM_000404.2(GLB1): c.601C> T (p.Arg201Cys)single nucleotide variantPathogenicrs72555360GRCh37Chr 3, 33099713: 33099713
2GLB1NM_000404.2(GLB1): c.202C> T (p.Arg68Trp)single nucleotide variantPathogenicrs72555370GRCh37Chr 3, 33114079: 33114079
3GLB1NM_000404.2(GLB1): c.176G> A (p.Arg59His)single nucleotide variantPathogenicrs72555392GRCh37Chr 3, 33114105: 33114105

Expression for genes affiliated with Gangliosidosis Gm1

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Search GEO for disease gene expression data for Gangliosidosis Gm1.

Pathways for genes affiliated with Gangliosidosis Gm1

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Pathways related to Gangliosidosis Gm1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I36
galactose degradation I (Leloir pathway)36
Cori Cycle36
9.5GLA, GLB1
2
Show member pathways
9.4GLB1, HEXA
3
Show member pathways
9.4GLB1, HEXA
4
Show member pathways
Ganglio Sphingolipid Metabolism36
9.4GLB1, HEXA
59.3HEXA, GLA
68.6HEXA, GLB1, NEU1
77.1GLA, PSAP, ARSA, NEU1, HEXA, GLB1
8
Show member pathways
7.1GLB1, HEXA, NEU1, PSAP, GLA, ARSA
9
Show member pathways
7.1HEXA, PSAP, GLA, GLB1, ARSA, NEU1

Compounds for genes affiliated with Gangliosidosis Gm1

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Sources:
24HMDB, 43Novoseek
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Compounds related to Gangliosidosis Gm1 according to GeneCards Suite gene sharing:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1Galactosylglycerol249.7GLB1, GLA
2D-Galactose249.5GLB1, GLA
3galactosylceramide439.4PSAP, ARSA
4glycosphingolipid439.4GLA, ARSA, PSAP
5cerebroside439.3ARSA, GLA, HEXA
6glucosylceramide43 2410.2PSAP, GLB1, GLA
7Ganglioside GA2 (d18:1/22:0)249.0GLB1, NEU1, HEXA
8Ganglioside GA2 (d18:1/16:0)249.0NEU1, GLB1, HEXA
9Ganglioside GA2 (d18:1/12:0)249.0HEXA, NEU1, GLB1
10Ganglioside GA2 (d18:1/24:1(15Z))249.0GLB1, NEU1, HEXA
11Ganglioside GA2 (d18:1/18:0)249.0GLB1, NEU1, HEXA
12Ganglioside GA2 (d18:1/20:0)249.0HEXA, NEU1, GLB1
13Ganglioside GA2 (d18:1/24:0)249.0HEXA, GLB1, NEU1
14Ganglioside GA2 (d18:1/25:0)249.0NEU1, HEXA, GLB1
15Ganglioside GA2 (d18:1/26:0)249.0GLB1, HEXA, NEU1
16Ganglioside GA2 (d18:1/9Z-18:1)249.0HEXA, NEU1, GLB1
17Ganglioside GA2 (d18:1/26:1(17Z))249.0NEU1, HEXA, GLB1
18Ganglioside GM2 (d18:1/24:1(15Z))249.0HEXA, NEU1, GLB1
19Ganglioside GM2 (d18:1/24:0)249.0HEXA, NEU1, GLB1
20Ganglioside GM2 (d18:1/22:0)249.0HEXA, NEU1, GLB1
21valine439.0ARSA, GLA, PSAP
22Ganglioside GM2 (d18:1/25:0)249.0NEU1, HEXA, GLB1
23Galactosylceramide (d18:1/26:1(17Z))249.0GLA, NEU1, ARSA
24Ganglioside GM2 (d18:1/26:0)249.0GLB1, HEXA, NEU1
25Ganglioside GM2 (d18:1/9Z-18:1)249.0HEXA, NEU1, GLB1
26Galactosylceramide (d18:1/18:1(9Z))249.0ARSA, NEU1, GLA
27Ganglioside GM2 (d18:1/26:1(17Z))249.0HEXA, NEU1, GLB1
28Galactosylceramide (d18:1/18:0)248.9NEU1, GLA, ARSA
29Ganglioside GM2 (d18:1/18:0)248.9HEXA, NEU1, GLB1
30Ganglioside GM2 (d18:1/12:0)248.9HEXA, GLB1, NEU1
31Galactosylceramide (d18:1/16:0)248.9NEU1, GLA, ARSA
32Ganglioside GM2 (d18:1/16:0)248.9GLB1, NEU1, HEXA
33Galactosylceramide (d18:1/24:1(15Z))248.9NEU1, GLA, ARSA
34Galactosylceramide (d18:1/22:0)248.9NEU1, ARSA, GLA
35Galactosylceramide (d18:1/20:0)248.9ARSA, GLA, NEU1
36sulfatide438.7GLB1, PSAP, NEU1, ARSA
37n-acetylglucosamine438.7NEU1, HEXA, ARSA
38ceramide438.7GLA, ARSA, PSAP
39Lactosylceramide (d18:1/25:0)248.5GLB1, GLA, NEU1, HEXA
40Lactosylceramide (d18:1/12:0)248.5NEU1, HEXA, GLA, GLB1
41Lactosylceramide (d18:1/24:1(15Z))248.5HEXA, NEU1, GLA, GLB1
42Lactosylceramide (d18:1/16:0)248.5GLB1, GLA, NEU1, HEXA
43Lactosylceramide (d18:1/26:0)248.5GLB1, GLA, NEU1, HEXA
44Lactosylceramide (d18:1/26:1(17Z))248.5GLB1, GLA, HEXA, NEU1
45mannose438.4HEXA, NEU1, GLA, ARSA
46glycolipid438.4GLA, HEXA, NEU1, PSAP
47Water248.0ARSA, GLB1, NEU1, GLA, HEXA
48mannose 6-phosphate43 249.0HEXA, ARSA, GLA, NEU1, PSAP
49serine437.6PSAP, HEXA, GLA, ARSA, NEU1
50ganglioside437.6HEXA, NEU1, PSAP, GLA, GLB1, ARSA

GO Terms for genes affiliated with Gangliosidosis Gm1

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Cellular components related to Gangliosidosis Gm1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057648.7ARSA, GLA, NEU1
2lysosomal lumenGO:00432026.8ARSA, GLB1, GLA, PSAP, NEU1, HEXA

Biological processes related to Gangliosidosis Gm1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan metabolic processGO:00302039.4HEXA, GLB1
2keratan sulfate catabolic processGO:00423409.3HEXA, GLB1
3keratan sulfate metabolic processGO:00423399.1HEXA, GLB1
4sphingolipid metabolic processGO:00066657.2ARSA, HEXA, NEU1, PSAP, GLA, GLB1
5glycosphingolipid metabolic processGO:00066877.2HEXA, NEU1, PSAP, GLA, GLB1, ARSA
6small molecule metabolic processGO:00442817.1GLB1, GLA, PSAP, NEU1, ARSA, HEXA

Molecular functions related to Gangliosidosis Gm1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1galactoside bindingGO:00169369.5GLB1, GLA

Products for genes affiliated with Gangliosidosis Gm1

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  • Antibodies
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Sources for Gangliosidosis Gm1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet